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Fragile X Syndrome Genetic Testing

July 20, 2018

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
SYNJ1 604297 Parkinson disease 20, early-onset; early infantile epileptic encephalopathy type 53 AR
SYP 313475 mental retardation 96 XLR
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
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
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
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