Fragile X Syndrome Genetic Testing
Disease summary:
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and one of the leading causes of monogenic forms of autism2. FXS is a repeat disorder caused by the expansion and methylation of CGG trinucleotide repeats in the FMR1 gene to over 200 repeats (Normal allele = 44 repeats). This causes silencing of the gene leading to the absence of the FMRP protein which is needed for normal brain development3. CGG expansions within the FMR1 are also associated with other phenotypes, including a risk of primary ovarian insufficiency in women and the fragile X-associated tremor/ataxia syndrome (FXTAS) when the repeat size is in the range of 55-200 repeats (premutation allele)3. FXS can rarely also be caused by FMR1 point mutations or deletions 4.
X-linked dominant
1 in 4,000 males
1 in 8,000 females
Major clinical symptoms for FXS 3:
- Delayed developmental milestones (developmental delay, difficulties siting, walking, speech delay)
- Intellectual disability (IQ 30-50) and autism
- Abnormal facial features (long face, prominent forehead and jaw, large ears)
- Macroorchidism
- Strabismus
- Joint hyperextensibility
- Flat feet
- Cardiological defects (mitral valve prolapse, aortic root dilatation)
- Abnormally soft skin
Major clinical findings for FXTAS 3, 7:
- Late-onset progressive cerebellar ataxia and intention tremor
- Short-term memory loss, executive function deficits
- Cognitive decline
- Dementia
- Parkinsonism
- Peripheral neuropathy
- Presence of the characteristic clinical features
- Positive family history of FXS or FXTAS
- Identification of an expanded CGG repeat allele in the FMR1 gene
- Identification of other types of pathogenic variants in the FMR1 gene
There is no cure for FXS to date, but symptomatic treatment can relieve symptoms. Management may include the following 3:
- Special education and early developmental intervention (speech therapy; psychological and physiotherapeutically support and others)
- Individualized pharmacological treatment for behavioral problems
- Routine treatment of strabismus, seizures, cardiological problems and others
- Ongoing clinical trials are testing the potential new therapeutics for Fragile X syndrome 8
- Sotos syndrome caused by pathogenic variants in NSD1
- Prader-Willi syndrome (PWS) associated with abnormal imprinting within critical region on chromosome 15
- Fragile XE syndrome caused by pathogenic variants in the FMR2 gene
- Rett syndrome caused by pathogenic variants in the MECP2 gene
- Autism spectrum disorders, Asperger syndrome
- Attention deficit hyperactivity disorders and disorders with learning difficulties
- Step 1: Repeat Expansion/Fragment Length Analysis is recommended as the first step as:
- higher fraction of cases observed to carry disease-causing repeat expansion in CentoMD® over SNVs/CNVs
- higher number of disease-causing expansions have been documented in public literature
- Step 2: FMR1 gene sequencing – covers the entire coding region, exon/intron boundaries and 200 bp of the gene promoter.
- Step 2: FMR1 deletion/duplication analysis/pathogenic variant scanning using MLPA/qPCR
- Males with intellectual disability and/or autism
- Individuals with most common symptoms of FXS (regardless of family history)
- Individuals with the clinical a positive family history of FXS or FXTAS
Confirmation of a clinical diagnosis through genetic testing of Fragile X syndrome can allow for genetic counseling and may direct medical management.
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABAT | 137150 | GABA-transaminase deficiency | AR |
| ABCD1 | 300371 | adrenoleukodystrophy | XLR |
| ACE | 106180 | Renal tubular dysgenesis; Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to | AR |
| ACSL4 | 300157 | mental retardation 63 | XLD |
| ACTB | 102630 | Baraitser-Winter syndrome 1; Dystonia, juvenile-onset | AD |
| ACTG1 | 102560 | Deafness, Autosomal Dominant 20; Baraitser-Winter syndrome 2 | AD |
| ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
| ADA | 608958 | Adenosine deaminase deficiency | AR |
| ADAR | 146920 | Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome type 6 | AD, AR |
| ADCY5 | 600293 | Dyskinesia, familial, with facial myokymia | AD |
| ADGRG1 | 604110 | bilateral frontoparietal polymicrogyria; bilateral perisylvian polymicrogyria | AR |
| ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
| ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
| ADSL | 608222 | Adenylosuccinase deficiency | AR |
| AFF2 | 300806 | Mental Retardation, X-Linked, Associated With Fragile Site Fraxe | XLR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| AIMP1 | 603605 | hypomyelinating leukodystrophy-3 | AR |
| AKAP9 | 604001 | long QT syndrome 11 | AD |
| AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
| ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
| ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
| ALDH7A1 | 107323 | pyridoxine-dependent epilepsy | AR |
| ALG11 | 613666 | congenital disorder of glycosylation type 1p | AR |
| ALG13 | 300776 | congenital disorder of glycosylation type 1s | XLD |
| ALX4 | 605420 | Parietal foramina 2; Frontonasal dysplasia 2 | AD, AR |
| AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
| AMPD2 | 102771 | pontocerebellar hypoplasia 9 | AR |
| AMT | 238310 | glycine encephalopathy | AR |
| ANK2 | 106410 | long QT syndrome-4 | AD |
| ANK3 | 600465 | autosomal recessive mental retardation type 37 | AR |
| ANKRD11 | 611192 | KBG syndrome | AD |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP1S2 | 300629 | Pettigrew syndrome | XLR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome type 2 | AR |
| AP4B1 | 607245 | spastic paraplegia 47 | AR |
| AP4M1 | 602296 | autosomal recessive spastic paraplegia type 50 | AR |
| ARFGEF2 | 605371 | Periventricular heterotopia with microcephaly | AR |
| ARHGEF10 | 608136 | slowed nerve conduction velocity | AD |
| ARHGEF6 | 300267 | ||
| ARHGEF9 | 300429 | Epileptic encephalopathy, early infantile, 8 | XLR |
| ARID1A | 603024 | Coffin-Siris syndrome type 2 | AD |
| ARID1B | 614556 | Coffin-Siris syndrome 1 | AD |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARX | 300382 | Proud syndrome; X-linked lissencephaly-2; ARX- related mental retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome | XL, XLR |
| ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy; Farber lipogranulomatosis | AR |
| ASCL1 | 100790 | congenital central hypoventilation syndrome | AD |
| ASPM | 605481 | primary microcephaly 5 | AR |
| ASXL1 | 612990 | Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic | AD |
| ASXL3 | 615115 | Bainbridge-Ropers syndrome | AD |
| ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
| ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
| ATP6AP2 | 300556 | syndromic mental retardation, Hedera type | XLR |
| ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
| ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
| ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
| ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
| ATRX | 300032 | Alpha-Thalassemia Myelodysplasia Syndrome; Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; Mental retardation-hypotonic facies syndrome, X-linked | XLD, XLR |
| AUTS2 | 607270 | mental retardation- 26 | AD |
| B3GALNT2 | 610194 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 | AR |
| B4GAT1 | 605517 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A13 | AR |
| B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
| B9D2 | 611951 | Meckel syndrome 10 | AR |
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination; ddch contiguous abcd1/dxs1375e deletion syndrome, included; cadds, included | XLR |
| BCKDK | 614901 | BCKDK deficiency | |
| BCOR | 300485 | Microphthalmia, syndromic 2 | XLD |
| BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
| BDNF | 113505 | ||
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BLOC1S6 | 604310 | Hermansky-pudlak syndrome 9 | AR |
| BRAF | 164757 | Cardiofaciocutaneous Syndrome 1; Lung Cancer; Noonan syndrome 7; LEOPARD syndrome 3 | AD |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| BRWD3 | 300553 | mental retardation 93 | XLR |
| C12orf57 | 615140 | Temtamy syndrome | AR |
| C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
| C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
| CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
| CACNA1C | 114205 | Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8 | AD |
| CACNA1D | 114206 | Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities | AD, AR |
| CACNA1F | 300110 | Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease | XL, XLR |
| CACNA1H | 607904 | childhood absence epilepsy type 6 | AD |
| CACNB2 | 600003 | Brugada syndrome 4 | |
| CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
| CARD11 | 607210 | Immunodeficiency 11B with atopic dermatitis | AD, AR |
| CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
| CBS | 613381 | homocystinuria with or without response to pyridoxine | AR |
| CC2D1A | 610055 | mental retardation 3 | AR |
| CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
| CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
| CDH15 | 114019 | autosomal dominant mental retardation, 3 | |
| CDK5RAP2 | 608201 | primary microcephaly 3 | AR |
| CDKL5 | 300203 | early infantile epileptic encephalopathy 2 | XLD |
| CDON | 608707 | Holoprosencephaly 11 | AD |
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
| CEP135 | 611423 | primary microcephaly 8 | AR |
| CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
| CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP63 | 614724 | Seckel syndrome 6 | AR |
| CHD2 | 602119 | childhood-onset epileptic encephalopathy | AD |
| CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
| CHD8 | 610528 | Autism, susceptibility to, 18 | AD |
| CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
| CHRM3 | 118494 | Prune belly syndrome | AR |
| CIB2 | 605564 | deafness type 48; Usher syndrome type 1J | AR |
| CLCN4 | 302910 | MENTAL RETARDATION, X-LINKED 49 | XLD |
| CLIC2 | 300138 | mental retardation 32 | XLR |
| CLN8 | 607837 | neuronal ceroid lipofuscinosis type 8; neuronal ceroid lipofuscinosistype 8, Northern epilepsy variant | AR |
| CNGB3 | 605080 | Achromatopsia type 3 | AR |
| CNTNAP2 | 604569 | Pitt-Hopkins like syndrome 1; Autism susceptibility 15 | AR |
| COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
| COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
| CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
| CPT2 | 600650 | stress-induced myopathic CPT II deficiency; infantile CPT deficiency; lethal neonatal CPT II deficiency; susceptibility to infection-induced acute encephalopathy type 4 | AD, AR |
| CRADD | 603454 | Mental retardation, autosomal recessive 34, with variant lissencephaly | AR |
| CRBN | 609262 | mental retardation 2 | AR |
| CREBBP | 600140 | Rubinstein-Taybi syndrome 1 | AD |
| CRIPT | 604594 | Short stature with microcephaly and distinctive facies | AR |
| CRPPA | 614631 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C7 | AR |
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTNNA3 | 607667 | familial arrhythmogenic right ventricular dysplasia type 13 | AD |
| CTNNB1 | 116806 | colorectal cancer; Hepatocellular Carcinoma; Medulloblastoma; Ovarian Cancer; neurodevelopmental disorder with spastic diplegia and visual defects | AD |
| CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
| CUL4B | 300304 | MENTAL RETARDATION, X-LINKED 15 | XLR |
| CUL7 | 609577 | 3-M syndrome | AR |
| CYB5R3 | 613213 | methemoglobinemia type I | AR |
| CYP11B1 | 610613 | Glucocorticoid-Remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | AD, AR |
| CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
| DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
| DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
| DCX | 300121 | type 1 lissencephaly | XL |
| DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
| DDX3X | 300160 | mental retardation 102 | XLD, XLR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DKC1 | 300126 | X-linked dyskeratosis congenita | XLR |
| DLG3 | 300189 | mental retardation 90 | XLR |
| DNM1 | 602377 | early infantile epileptic encephalopathy, 31 | AD |
| DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
| DPYD | 612779 | Dihydropyrimidine dehydrogenase deficiency | AR |
| DRD3 | 126451 | schizophrenia | AD |
| DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| DYNC1H1 | 600112 | lower extremity-predominant spinal muscular atrophy type 1; type 2O Charcot-Marie-Tooth disease; mental retardation-13 | AD |
| DYRK1A | 600855 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 | AD |
| EDN3 | 131242 | congenital central hypoventilation syndrome; Waardenburg syndrome type 4B; Hirschsprung disease 4 | AD, AR |
| EDNRB | 131244 | Waardenburg syndrome type 4A; Hirschsprung disease, susceptibility to, 2; ABCD syndrome | AD, AR |
| EEF1A2 | 602959 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; early infantile epileptic encephalopathy type 33 | AD |
| EFTUD2 | 603892 | Mandibulofacial dysostosis, Guion-Almeida type | AD |
| EHMT1 | 607001 | Kleefstra syndrome | AD |
| EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
| EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
| EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
| EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
| EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
| EIF4E | 133440 | ||
| ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
| EMX2 | 600035 | Schizencephaly | |
| EP300 | 602700 | colorectal cancer; Rubinstein-Taybi syndrome 2 | AD |
| EPB41L1 | 602879 | mental retardation-11 | AD |
| ESRRB | 602167 | deafness type 35 | AR |
| ETFB | 130410 | multiple acyl-CoA dehydrogenase deficiency | AR |
| EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
| FAM126A | 610531 | hypomyelinating leukodystrophy-5 | AR |
| FANCB | 300515 | Fanconi anemia of complementation group B | XLR |
| FBN1 | 134797 | Marfan syndrome; stiff skin syndrome; Weill-Marchesani syndrome 2; geleophysic dysplasia 2; Marfan lipodystrophy syndrome | AD |
| FGA | 134820 | Amyloidosis, familial visceral; Afibrinogenemia, congenital; Dysfibrinogenemia, congenital | AD, AR |
| FGD1 | 300546 | Aarskog-Scott syndrome | XLR |
| FGFR2 | 176943 | Apert syndrome; Saethre-Chotzen Syndrome; Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; Crouzon syndrome; Beare-Stevenson cutis gyrata syndrome; Lacrimoauriculodentodigital Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Scaphocephaly, maxillary retrusion, and mental retardation; Gastric Cancer; Bent bone dysplasia syndrome | AD |
| FGFR3 | 134934 | Achondroplasia; Bladder Cancer; colorectal cancer; Hypochondroplasia; Lacrimoauriculodentodigital Syndrome; Nevus, Epidermal; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II; Spermatocytic seminoma, somatic; Muenke syndrome; Cervical cancer, somatic; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans | AD, AR |
| FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | AR |
| FKTN | 607440 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A4; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C4; dilated cardiomyopathy type 1X; congenital muscular dystrophy-dystroglycanopathy without mental retardation type B4 | AR |
| FLNA | 300017 | Congenital short bowel syndrome; Heterotopia, periventricular / X-linked periventricular heterotopia; Terminal osseous dysplasia; FG syndrome 2; Otopalatodigital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needles syndrome; otopalatodigital syndrome type I; Cardiac valvular dysplasia, X-linked | XL, XLD, XLR |
| FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
| FMR1 | 309550 | fragile X tremor/ataxia syndrome; fragile X mental retardation syndrome; premature ovarian failure type 1 | XL, XLD |
| FOLR1 | 136430 | cerebral folate transport deficiency | AR |
| FOXC1 | 601090 | Iridogoniodysgenesis, type 1; Axenfeld-Rieger syndrome, type 3 | AD |
| FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
| FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis | AD, AR |
| FOXP1 | 605515 | Mental retardation with language impairment and with or without autistic features | AD |
| FOXP2 | 605317 | Speech-Language Disorder 1 | AD |
| FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
| FTO | 610966 | Growth retardation, developmental delay, facial dysmorphism | AR |
| FTSJ1 | 300499 | MENTAL RETARDATION, X-LINKED 9 | XLR |
| G6PD | 305900 | glucose-6-phosphate dehydrogenase deficiency; resistance to malaria | XLD |
| GABRB3 | 137192 | Epilepsy, Childhood Absence, Susceptibility To, 5 | AD |
| GAD1 | 605363 | Cerebral palsy, spastic quadriplegic, 1 | AR |
| GAMT | 601240 | guanidinoacetate methyltransferase deficiency | AR |
| GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AD, AR |
| GCK | 138079 | MODY type 2; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Hyperinsulinemic hypoglycemia, familial, 3; permanent neonatal diabetes mellitus | AD, AR |
| GDI1 | 300104 | mental retardation 41 | XLD |
| GDNF | 600837 | pheochromocytoma; congenital central hypoventilation syndrome; Hirschsprung Disease, Susceptibility To, 3 | AD |
| GFAP | 137780 | Alexander disease | AD |
| GIGYF2 | 612003 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | |
| GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
| GK | 300474 | Glycerol kinase deficiency | XLR |
| GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
| GLRB | 138492 | Hyperekplexia 2, autosomal recessive | AR |
| GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
| GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR |
| GNAO1 | 139311 | early infantile epileptic encephalopathy 17; neurodevelopmental disorder with involuntary movements | AD |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| GPHN | 603930 | Molybdenum cofactor deficiency, complementation group c | AR |
| GPT2 | 138210 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | AR |
| GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GRIA3 | 305915 | syndromic mental retardation, Wu type | XLR |
| GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
| GRIK2 | 138244 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | AR |
| GRIN1 | 138249 | mental retardation- 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures | AD, AR |
| GRIN2A | 138253 | Epilepsy, focal, with speech disorder and with or without mental retardation | AD |
| GRIN2B | 138252 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; early infantile epileptic encephalopathy 27 | AD |
| GRIP1 | 604597 | AR | |
| HBB | 141900 | Heinz Body Anemias; Delta-beta thalassemia; dominantly inherited inclusion body beta-thalassemia; sickle cell anemia; resistance to malaria; beta-thalassemia | AD, AR |
| HCCS | 300056 | Microphthalmia, syndromic 7 | XLD |
| HCFC1 | 300019 | mental retardation 3 | XLR |
| HCN1 | 602780 | early infantile epileptic encephalopathy 24 | AD |
| HDAC4 | 605314 | ||
| HDAC8 | 300269 | Cornelia de Lange syndrome 5 | XLD |
| HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
| HERC2 | 605837 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 | AR |
| HNRNPU | 602869 | Epileptic encephalopathy, early infantile, 54 | AD |
| HOXA1 | 142955 | Bosley-Salih-Alorainy syndrome | |
| HPRT1 | 308000 | Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome | XLR |
| HPS1 | 604982 | Hermansky-Pudlak syndrome type 1 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome type 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome type 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome type 6 | AR |
| HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
| HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
| HSPD1 | 118190 | spastic paraplegia 13; hypomyelinating leukodystrophy-4 | AD, AR |
| HUWE1 | 300697 | syndromic mental retardation, Turner type | XL |
| HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
| IDS | 300823 | mucopolysaccharidosis type II | XLR |
| IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFIH1 | 606951 | Singleton-Merten syndrome type 1; Aicardi-Goutieres syndrome 7 | AD |
| IGBP1 | 300139 | mental retardation 28 | XLR |
| IGF1 | 147440 | Insulin-Like Growth Factor I Deficiency | AR |
| IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
| IL1RAPL1 | 300206 | mental retardation 21 | XLR |
| INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| INVS | 243305 | nephronophthisis 2 | AR |
| IQSEC2 | 300522 | MENTAL RETARDATION, X-LINKED 1 | XLD |
| IRX5 | 606195 | Hamamy syndrome | AR |
| ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
| ITGB3 | 173470 | Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia; Myocardial infarction, decreased susceptibility to | AD, AR |
| ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
| JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
| KANK1 | 607704 | Cerebral palsy, spastic quadriplegic, 2 | |
| KAT6A | 601408 | mental retardation- 32 | AD |
| KAT6B | 605880 | Ohdo syndrome, SBBYS variant; Genitopatellar syndrome | AD |
| KATNB1 | 602703 | lissencephaly 6 | AR |
| KCNB1 | 600397 | early infantile epileptic encephalopathy 26 | AD |
| KCNC1 | 176258 | Progressive myoclonic epilepsy 7 | AD |
| KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
| KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
| KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
| KCNK9 | 605874 | ||
| KCNMA1 | 600150 | Generalized epilepsy and paroxysmal dyskinesia; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16 | AD, AR |
| KCNQ2 | 602235 | benign familial neonatal epilepsy; early-onset epileptic encephalopathy 7 | AD |
| KCNQ3 | 602232 | Seizures, Benign Familial Neonatal, 2 | AD |
| KDM5C | 314690 | syndromic mental retardation - Claes-Jensen type | XLR |
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KIF11 | 148760 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | AD |
| KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
| KIF5C | 604593 | Cortical dysplasia, complex, with other brain malformations 2 | AD |
| KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
| KIRREL3 | 607761 | ||
| KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
| KMT2C | 606833 | Kleefstra syndrome type 2 | AD |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KNL1 | 609173 | primary microcephaly 4 | AR |
| KRAS | 190070 | Arteriovenous malformations of the brain; Bladder Cancer; familial breast-ovarian cancer type 2; Gastric Cancer, Hereditary Diffuse; Schimmelpenning-Feuerstein-Mims Syndrome; Lung Cancer; Pancreatic Cancer; acute myeloid leukemia; Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type IV; Cardiofaciocutaneous syndrome 2 | AD |
| L1CAM | 308840 | spastic paraplegia type 1; partial agenesis of the corpus callosum; hydrocephalus with stenosis of the aqueduct of Sylvius | XLR |
| LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
| LAMA2 | 156225 | congenital muscular dystrophy type 1A; limb-girdle Muscular dystrophy type 23 | AR |
| LAMB1 | 150240 | lissencephaly 5 | AR |
| LAMC3 | 604349 | Cortical malformations, occipital | AR |
| LAMP2 | 309060 | Danon disease | XLD |
| LARGE1 | 603590 | congenital muscular dystrophy-dystroglycanopathy with mental retardation type B6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 | AR |
| LEP | 164160 | Leptin deficiency | AR |
| LINS1 | 610350 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 | AR |
| LMX1B | 602575 | Nail-patella syndrome | AD |
| LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
| LRP2 | 600073 | Donnai-Barrow syndrome | AR |
| LZTR1 | 600574 | Noonan syndrome type 2; SCHWANNOMATOSIS 2; Noonan syndrome 10 | AD, AR |
| MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
| MAGT1 | 300715 | Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | XLR |
| MAN1B1 | 604346 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | AR |
| MAOA | 309850 | Brunner syndrome | XLR |
| MBD5 | 611472 | mental retardation-1 | AD |
| MBTPS2 | 300294 | IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked | XLR |
| MCCC2 | 609014 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCM4 | 602638 | Natural killer cell and glucocorticoid deficiency with DNA repair defect | AR |
| MCPH1 | 607117 | primary microcephaly 1 | AR |
| MECP2 | 300005 | MENTAL RETARDATION, X-LINKED 13; X-linked syndromic mental retardation, Lubs type; Autism susceptibility, X-linked 3; severe neonatal encephalopathy; Rett syndrome | XL, XLD, XLR |
| MED12 | 300188 | Opitz-Kaveggia syndrome /FG syndrome-1; Lujan-Fryns syndrome | XLR |
| MED13L | 608771 | Mental retardation and distinctive facial features with or without cardiac defects | AD |
| MED17 | 603810 | postnatal progressive microcephaly, seizures, and brain atrophy | AR |
| MED23 | 605042 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | AR |
| MEF2C | 600662 | mental retardation- 20 | AD |
| MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
| MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
| MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
| MFRP | 606227 | Nanophthalmos 2; isolated microphthalmia 5 | AR |
| MFSD2A | 614397 | Microcephaly 15, primary, autosomal recessive | AR |
| MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
| MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
| MID1 | 300552 | Opitz GBBB syndrome, X-linked | XLR |
| MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
| MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
| MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
| MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
| MPDZ | 603785 | Hydrocephalus, nonsyndromic, autosomal recessive 2 | AR |
| MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
| MTHFR | 607093 | schizophrenia; thrombophilia due to thrombin defect; homocystinuria due to MTHFR deficiency; folate-sensitive neural tube defects | AD, AR |
| MTM1 | 300415 | X-linked myotubular myopathy | XLR |
| MTOR | 601231 | Smith-Kingsmore syndrome | AD |
| MTR | 156570 | homocystinuria-megaloblastic anemia, cblG complementation type; folate-sensitive neural tube defects | AR |
| MYCN | 164840 | Feingold syndrome | AD |
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| NAA10 | 300013 | Ogden syndrome; Microphthalmia, syndromic 1 | XL, XLD, XLR |
| NAGA | 104170 | Schindler disease, type I, III | AR |
| NALCN | 611549 | Hypotonia, infantile, with psychomotor retardation and characteristic facies; Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD, AR |
| NDE1 | 609449 | lissencephaly 4 | AR |
| NDP | 300658 | Exudative Vitreoretinopathy 2, X-Linked; Norrie disease | XLD, XLR |
| NDST1 | 600853 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 | AR |
| NDUFA1 | 300078 | XLR | |
| NECTIN1 | 600644 | Cleft lip/palate ectodermal dysplasia syndrome | AR |
| NEXMIF | 300524 | mental retardation 98 | XLD |
| NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
| NFIX | 164005 | Marshall-Smith syndrome; Sotos syndrome 2 | AD |
| NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
| NHS | 300457 | Nance-Horan syndrome | XL, XLD |
| NIPA1 | 608145 | spastic paraplegia type 6 | AD |
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NLGN3 | 300336 | Autism, Susceptibility To, X-Linked 1; Asperger Syndrome, X-Linked, Susceptibility To, 1 | XL |
| NLGN4X | 300427 | Autism, Susceptibility To, X-Linked 2; Asperger Syndrome, X-Linked, Susceptibility To, 2 | XL |
| NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
| NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
| NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
| NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
| NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
| NRXN1 | 600565 | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | AR |
| NSD1 | 606681 | Sotos syndrome 1 | AD |
| NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
| NSUN2 | 610916 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | AR |
| NTRK1 | 191315 | hereditary sensory and autonomic neuropathy type 4 | AR |
| NXF5 | 300319 | ||
| OCLN | 602876 | Band-like calcification with simplified gyration and polymicrogyria | AR |
| OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
| OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
| OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
| ORC1 | 601902 | Meier-gorlin syndrome 1 | AR |
| OTC | 300461 | ornithine transcarbamylase deficiency | XLR |
| PAFAH1B1 | 601545 | lissencephaly type 1 | AD |
| PAH | 612349 | phenylketonuria | AR |
| PAK3 | 300142 | mental retardation 30 | XLR |
| PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
| PAX3 | 606597 | Waardenburg syndrome, type 3; Waardenburg syndrome type 1 | AD, AR |
| PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
| PCDH15 | 605514 | Usher syndrome type 1D; Usher syndrome type 1F; deafness type 23 | AR, DiR |
| PCDH19 | 300460 | early infantile epileptic encephalopathy type 9 | XL |
| PCNT | 605925 | microcephalic osteodysplastic primordial dwarfism type 2 | AR |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PDHA1 | 300502 | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
| PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
| PEX11B | 603867 | peroxisome biogenesis disorder 14B (Zellweger) | AR |
| PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
| PEX13 | 601789 | peroxisome biogenesis disorder 11A (Zellweger); peroxisome biogenesis disorder 11B | AR |
| PEX14 | 601791 | peroxisome biogenesis disorder 13A (Zellweger) | AR |
| PEX16 | 603360 | peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B | AR |
| PEX19 | 600279 | peroxisome biogenesis disorder 12A (Zellweger) | AR |
| PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
| PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
| PEX3 | 603164 | peroxisome biogenesis disorder 10A (Zellweger) | AR |
| PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
| PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
| PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
| PGAP1 | 611655 | mental retardation 42 | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PHC1 | 602978 | primary microcephaly 11 | AR |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PHF8 | 300560 | syndromic mental retardation, Siderius type | XLR |
| PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
| PIGL | 605947 | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome | AR |
| PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome type 1 | AR |
| PIGO | 614730 | Hyperphosphatasia with mental retardation syndrome 2 | AR |
| PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome type 1 | AR |
| PIK3R2 | 603157 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome | AD |
| PITX2 | 601542 | Axenfeld-Rieger syndrome, type 1 | AD |
| PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
| PLCB1 | 607120 | early infantile epileptic encephalopathy 12 | AR |
| PLK4 | 605031 | autosomal recessive microcephaly and chorioretinopathy, 2 | AR |
| PLN | 172405 | dilated cardiomyopathy-1P; Cardiomyopathy, familial hypertrophic, 18 | AD |
| PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
| PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
| POGZ | 614787 | White-Sutton syndrome | AD |
| POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
| POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
| POMGNT1 | 606822 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B3; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C3; retinitis pigmentosa type 76 | AR |
| POMGNT2 | 614828 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 | AR |
| POMK | 615247 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type C12 | AR |
| POMT1 | 607423 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C1; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B1 | AR |
| POMT2 | 607439 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2; congenital limb-girdle muscular dystrophy-dystroglycanopathy type C2 | AR |
| PORCN | 300651 | Focal dermal hypoplasia | XLD |
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| PPOX | 600923 | variegate porphyria | AD |
| PPT1 | 600722 | neuronal ceroid lipofuscinosis type 1 | AR |
| PQBP1 | 300463 | Renpenning Syndrome 1 | XLR |
| PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
| PRKN | 602544 | Ovarian Cancer; Lung Cancer; Parkinson disease 2 | AR |
| PRODH | 606810 | Hyperprolinemia, type I; susceptibility to Schizophrenia, 4 | AD, AR |
| PRPS1 | 311850 | Phosphoribosylpyrophosphate synthetase superactivity; Arts syndrome; deafness type 1; type X5 Charcot-Marie-Tooth | XL, XLR |
| PRSS12 | 606709 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | AR |
| PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
| PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
| PTPN11 | 176876 | LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic | AD |
| PTPRC | 151460 | Severe combined imunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK-cell positive; Hepatitis C Virus, Susceptibility To | AR |
| PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
| PURA | 600473 | mental retardation- 31 | AD |
| PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
| PYCR2 | 616406 | hypomyelinating leukodystrophy-10 | AR |
| QARS1 | 603727 | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | AR |
| RAB18 | 602207 | Warburg micro syndrome 3 | AR |
| RAB39B | 300774 | mental retardation 72 | XLR |
| RAB3GAP1 | 602536 | Warburg micro syndrome 1 | AR |
| RAB3GAP2 | 609275 | Martsolf syndrome; Warburg micro syndrome 2 | AR |
| RAD21 | 606462 | Cornelia de Lange syndrome type 4 | AD, AR |
| RAI1 | 607642 | Smith-Magenis syndrome | AD |
| RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
| RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
| RBFOX1 | 605104 | ||
| RBM10 | 300080 | TARP syndrome | XLR |
| RELN | 600514 | lissencephaly 2; familial temporal lobe epilepsy, 7 | AD, AR |
| RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
| RIMS1 | 606629 | Cone-rod dystrophy 7 | |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome type 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome type 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| ROGDI | 614574 | Kohlschutter-Tonz syndrome | AR |
| ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
| RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
| RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | XLR |
| RPS6KA3 | 300075 | MENTAL RETARDATION, X-LINKED 19; Coffin-Lowry syndrome | XLD |
| RXYLT1 | 605862 | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies A10 | AR |
| SALL1 | 602218 | Townes-Brocks syndrome | AD |
| SAMHD1 | 606754 | Aicardi-Goutieres syndrome type 5; Chilblain lupus type 2 | AD, AR |
| SASS6 | 609321 | autosomal recessive primary microcephaly, 14 | AR |
| SATB2 | 608148 | SATB2-associated syndrome (SAS) :Glass syndrome | AD |
| SBF1 | 603560 | type 4B3 Charcot-Marie-Tooth disease | AR |
| SCN1A | 182389 | generalized epilepsy with febrile seizures plus 2; early infantile epileptic encephalopathy 6; familial hemiplegic migraine-3 | AD |
| SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
| SCN4A | 603967 | Paramyotonia congenita; Hyperkalemic periodic paralysis, type 2; Atypical myotonia congenita, acetazolamide-responsive; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, acetazolamide-responsive | AD, AR |
| SCN8A | 600702 | Cognitive impairment with or without cerebellar ataxia; early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 | AD |
| SCN9A | 603415 | primary erythermalgia; Paroxysmal extreme pain disorder; INDIFFERENCE TO PAIN, CONGENITAL; generalized epilepsy with febrile seizures plus 7 | AD, AR |
| SCO2 | 604272 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 | AD, AR |
| SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
| SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
| SEPSECS | 613009 | pontocerebellar hypoplasia type 2D | AR |
| SETBP1 | 611060 | Schinzel-giedion midface retraction syndrome; mental retardation type 29 | AD |
| SETD2 | 612778 | Luscan-Lumish syndrome | AD |
| SGCA | 600119 | limb-girdle Muscular dystrophy type 3 | AR |
| SHANK2 | 603290 | Autism susceptibility 17 | |
| SHH | 600725 | Holoprosencephaly 3; Solitary Median Maxillary Central Incisor; Schizencephaly; Microphthalmia, Isolated, With Coloboma 5 | AD |
| SHROOM4 | 300579 | Stocco dos Santos X-linked mental retardation syndrome | XL |
| SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
| SIX3 | 603714 | Holoprosencephaly 2; Schizencephaly | AD |
| SLC12A5 | 606726 | early infantile epileptic encephalopathy type 34; susceptibility to idiopathic generalized epilepsy-14 | AD, AR |
| SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
| SLC25A12 | 603667 | Epileptic encephalopathy, early infantile, 39 | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A19 | 606521 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| SLC27A4 | 604194 | Ichthyosis prematurity syndrome | |
| SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
| SLC35A2 | 314375 | congenital disorder of glycosylation type 2m | XLD |
| SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
| SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
| SLC6A3 | 126455 | Tobacco Addiction, Susceptibility To; Parkinsonism-dystonia, infantile | AR |
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome type 1 | XLR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
| SLC9A9 | 608396 | susceptibility to autism type 16 | |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| SMARCA2 | 600014 | Nicolaides-Baraitser syndrome | AD |
| SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
| SMARCB1 | 601607 | Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 | AD |
| SMARCE1 | 603111 | Meningioma, familial, susceptibility to | AD |
| SMC1A | 300040 | Cornelia de Lange syndrome 2 | XLD |
| SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
| SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
| SMS | 300105 | Snyder-Robinson mental retardation syndrome | XLR |
| SNAI2 | 602150 | Piebaldism; Waardenburg syndrome type 2d | AD, AR |
| SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SNIP1 | 608241 | AR | |
| SOBP | 613667 | AR | |
| SOD1 | 147450 | amyotrophic lateral sclerosis 1 | AD, AR |
| SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
| SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
| SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
| SPAST | 604277 | spastic paraplegia-4 | AD |
| SRD5A3 | 611715 | congenital disorder of glycosylation type 1q; Kahrizi syndrome | AR |
| ST3GAL3 | 606494 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; early infantile epileptic encephalopathy, 15 | AR |
| STAMBP | 606247 | Microcephaly-capillary malformation syndrome | AR |
| STIL | 181590 | primary microcephaly 7 | AR |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| STXBP1 | 602926 | early infantile epileptic encephalopathy 4 | AD |
| SYN1 | 313440 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | XLD, XLR |
| SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
| SYNGAP1 | 603384 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | AD |
| SYNJ1 | 604297 | Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 | AR |
| SYP | 313475 | mental retardation 96 | XLR |
| TAF2 | 604912 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | AR |
| TAF6 | 602955 | Alazami-Yuan syndrome | AR |
| TBC1D20 | 611663 | Warburg micro syndrome 4 | AR |
| TBC1D24 | 613577 | DOOR syndrome; Myoclonic epilepsy, infantile, familial; Rolandic epilepsy with proxysmal exercise-induced dystonia and writer's cramp; deafness type 86; Epileptic encephalopathy, early infantile, 16; deafness type 65 | AD, AR |
| TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome(SANJAD-SAKATI SYNDROME) | AR |
| TBL1XR1 | 608628 | Pierpont syndrome; Mental retardation, autosomal dominant 41 | AD |
| TBX1 | 602054 | Tetralogy of Fallot; DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal Heart Malformations | AD |
| TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
| TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
| TECR | 610057 | mental retardation 14 | AR |
| TECTA | 602574 | Deafness, autosomal dominant 8/12; deafness type 21 | AD, AR |
| TFAP2A | 107580 | Branchiooculofacial syndrome | AD |
| TGIF1 | 602630 | Holoprosencephaly-4 | AD |
| THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
| TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
| TINF2 | 604319 | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3 | AD |
| TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
| TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
| TMLHE | 300777 | susceptibility to autism type 6 | XLR |
| TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
| TRAPPC9 | 611966 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | AR |
| TREX1 | 606609 | systemic lupus erythematosus; retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome type 1; chilblain lupus type 1 | AD, AR |
| TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
| TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
| TSC1 | 605284 | tuberous sclerosis type 1 | AD |
| TSC2 | 191092 | tuberous sclerosis-2 | AD |
| TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
| TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
| TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
| TSPAN7 | 300096 | mental retardation 58 | XLR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
| TTI2 | 614426 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | AR |
| TTN | 188840 | Tibial muscular dystrophy, tardive; Hereditary myopathy with early respiratory failure; dilated cardiomyopathy type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 | AD, AR |
| TUBA1A | 602529 | lissencephaly 3 | AD |
| TUBA8 | 605742 | Polymicrogyria with optic nerve hypoplasia | AR |
| TUBB2B | 612850 | Polymicrogyria, symmetric or asymmetric | AD |
| TUBB3 | 602661 | Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations | AD |
| TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
| TUBGCP4 | 609610 | AR | |
| TUBGCP6 | 610053 | Microcephaly and chorioretinopathy with or without mental retardation | AR |
| TUSC3 | 601385 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | AR |
| TYR | 606933 | Albinism, Ocular, With Sensorineural Deafness; oculocutaneous albinism type 1A; Skin/hair/eye pigmentation 3; Albinism, oculocutaneous, type IB | AD, AR |
| UBE2A | 312180 | syndromic mental retardation, Nascimento type | XLR |
| UBE3A | 601623 | Angelman syndrome | AD |
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| UPF3B | 300298 | mental retardation 14 | XLR |
| USH2A | 608400 | Usher syndrome type 2A; retinitis pigmentosa type 39 | AR |
| USP9X | 300072 | mental retardation 99 | XLD, XLR |
| VDR | 601769 | vitamin D-dependent rickets type 2A | AR |
| VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
| VPS13B | 607817 | Cohen syndrome | AR |
| VPS53 | 615850 | pontocerebellar hypoplasia type 2E | AR |
| VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
| WAC | 615049 | Desanto-Shinawi syndrome | AD |
| WDR45 | 300526 | neurodegeneration with brain iron accumulation 5 | XLD |
| WDR62 | 613583 | primary microcephaly 2 | AR |
| WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
| WNT1 | 164820 | osteogenesis imperfecta type 15; susceptibility to early-onset autosomal dominant osteoporosis | AR |
| WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
| WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
| YWHAE | 605066 | ||
| ZBTB18 | 608433 | mental retardation- 22 | AD |
| ZDHHC9 | 300646 | syndromic mental retardation, ZDHHC9-related | XL |
| ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
| ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |
| ZIC2 | 603073 | Holoprosencephaly 5 | AD |
| ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
| ZNF335 | 610827 | primary microcephaly 10 | AR |
| ZNF41 | 314995 | ||
| ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
| ZNF711 | 314990 | mental retardation 97 | XL |
| ZNF81 | 314998 |