RGDs registry under the 'Neurodevelopmental disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Rett syndrome |
•Autism, dementia, ataxia, and loss of purposeful hand use •Classic Rett syndrome •Rett's disorder |
Intellectual disability |
MECP2 methyl-CpG binding protein 2 FOXG1 forkhead box G1 CDKL5 cyclin dependent kinase like 5 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 RHOBTB2 Rho related BTB domain containing 2 |
PubMed | Reports |
| 2 | Angelman syndrome |
•Happy puppet syndrome |
Intellectual disability |
UBE3A ubiquitin protein ligase E3A MECP2 methyl-CpG binding protein 2 CDKL5 cyclin dependent kinase like 5 HIVEP2 HIVEP zinc finger 2 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 |
PubMed | Reports |
| 3 | Phelan-McDermid syndrome |
•Monosomy 22q13.3 •Phelan McDermid syndrome |
Intellectual disability |
SHANK3 SH3 and multiple ankyrin repeat domains 3 |
PubMed | Reports |
| 4 | Oromandibular-limb hypogenesis spectrum |
•Moebius syndrome |
Cranial nerve diseases |
SIM1 SIM bHLH transcription factor 1 EBF3 EBF transcription factor 3 CHN1 chimerin 1 |
PubMed | Reports |
| 5 | Hereditary hyperekplexia | Movement disorders |
GLRA1 glycine receptor alpha 1 |
PubMed | Reports | |
| 6 | Noonan syndrome |
•MAP2K1-Related Noonan Syndrome •Noonan's syndrome •Pseudo-Turner syndrome |
Intellectual disability |
SHOC2 SHOC2 leucine rich repeat scaffold protein RRAS2 RAS related 2 KRAS KRAS proto-oncogene, GTPase SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 PTPN11 protein tyrosine phosphatase non-receptor type 11 CBL Cbl proto-oncogene NRAS NRAS proto-oncogene, GTPase RAF1 Raf-1 proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase RIT1 Ras like without CAAX 1 SPRED1 sprouty related EVH1 domain containing 1 LZTR1 leucine zipper like post translational regulator 1 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 PPP1CB protein phosphatase 1 catalytic subunit beta MAP2K1 mitogen-activated protein kinase kinase 1 A2ML1 alpha-2-macroglobulin like 1 RRAS RAS related MRAS muscle RAS oncogene homolog GJB2 gap junction protein beta 2 MAPK1 mitogen-activated protein kinase 1 CLTC clathrin heavy chain SPRED2 sprouty related EVH1 domain containing 2 MAP2K2 mitogen-activated protein kinase kinase 2 RASA2 RAS p21 protein activator 2 |
PubMed | Reports |
| 7 | Kabuki syndrome | Intellectual disability |
KMT2D lysine methyltransferase 2D KDM6A lysine demethylase 6A KMT2A lysine methyltransferase 2A KMT2B lysine methyltransferase 2B |
PubMed | Reports | |
| 8 | Prader-willi syndrome | Intellectual disability |
MAGEL2 MAGE family member L2 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
PubMed | Reports | |
| 9 | Hyperekplexia 1 |
•Stiff-person syndrome, congenital •HKPX1,Stiff man syndrome •Stiff person spectrum disorder |
Movement disorder |
GLRA1 glycine receptor alpha 1 |
PubMed | Reports |
| 10 | Obsessive compulsive disorder | Anxiety disorder |
HTR2A 5-hydroxytryptamine receptor 2A SLC6A4 solute carrier family 6 member 4 HTR2C 5-hydroxytryptamine receptor 2C |
PubMed | Reports | |
| 11 | Sotos syndrome | Intellectual disability |
NSD1 nuclear receptor binding SET domain protein 1 |
PubMed | Reports | |
| 12 | Dystonia 28 |
•DYT-KMT2B |
Movement disorder |
KMT2B lysine methyltransferase 2B |
PubMed | Reports |
| 13 | Joubert syndrome | Cerebellar disorders |
TMEM216 transmembrane protein 216 INPP5E inositol polyphosphate-5-phosphatase E CC2D2A coiled-coil and C2 domain containing 2A RPGRIP1L RPGRIP1 like CEP290 centrosomal protein 290 TMEM67 transmembrane protein 67 ARL13B ADP ribosylation factor like GTPase 13B AHI1 Abelson helper integration site 1 OFD1 OFD1 centriole and centriolar satellite protein TCTN1 tectonic family member 1 CEP41 centrosomal protein 41 KIF7 kinesin family member 7 TMEM237 transmembrane protein 237 TMEM138 transmembrane protein 138 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 TCTN3 tectonic family member 3 ZNF423 zinc finger protein 423 TMEM231 transmembrane protein 231 CSPP1 centrosome and spindle pole associated protein 1 PDE6D phosphodiesterase 6D KIAA0586 KIAA0586 TCTN2 tectonic family member 2 CEP104 centrosomal protein 104 MKS1 MKS transition zone complex subunit 1 B9D1 B9 domain containing 1 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 NPHP1 nephrocystin 1 SLC30A7 solute carrier family 30 member 7 MICALL2 MICAL like 2 CEP120 centrosomal protein 120 SUFU SUFU negative regulator of hedgehog signaling PIBF1 progesterone immunomodulatory binding factor 1 KATNIP katanin interacting protein ARMC9 armadillo repeat containing 9 ARL3 ADP ribosylation factor like GTPase 3 FAM149B1 family with sequence similarity 149 member B1 TOGARAM1 TOG array regulator of axonemal microtubules 1 KIAA0753 KIAA0753 IFT74 intraflagellar transport 74 NPHP3 nephrocystin 3 TMEM218 transmembrane protein 218 KIF14 kinesin family member 14 B9D2 B9 domain containing 2 |
PubMed | Reports | |
| 14 | Kleefstra syndrome | Intellectual disability |
EHMT1 euchromatic histone lysine methyltransferase 1 KMT2C lysine methyltransferase 2C PAEP progestagen associated endometrial protein |
PubMed | Reports | |
| 15 | Lennox-Gastaut syndrome | Epilepsy |
GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 CHD2 chromodomain helicase DNA binding protein 2 DNM1 dynamin 1 |
PubMed | Reports | |
| 16 | Warburg micro syndrome |
•Micro syndrome |
Intellectual disability |
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 RAB18 RAB18, member RAS oncogene family RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 TBC1D20 TBC1 domain family member 20 |
PubMed | Reports |
| 17 | Williams syndrome | Intellectual disability |
ELN elastin |
PubMed | Reports | |
| 18 | Fragile X syndrome | Intellectual disability |
FMR1 fragile X messenger ribonucleoprotein 1 |
PubMed | Reports | |
| 19 | Silver-Russell syndrome |
•Silver-Russell dwarfism •Silver Russell syndrome |
Intellectual disability |
CDKN1C cyclin dependent kinase inhibitor 1C IGF2 insulin like growth factor 2 PLAG1 PLAG1 zinc finger HMGA2 high mobility group AT-hook 2 |
PubMed | Reports |
| 20 | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
•ADNP syndrome •HVDAS •Helsmoortel-Van Der Aa Syndrome |
Intellectual disability |
ADNP activity dependent neuroprotector homeobox |
PubMed | Reports |
| 21 | Hemimegalencephaly |
•Unilateral megalencephaly |
Epilepsy |
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding PTEN phosphatase and tensin homolog |
PubMed | Reports |
| 22 | Severe myoclonic epilepsy in infancy |
•Dravet syndrome •Severe myoclonus epilepsy of infancy •SMEI |
Epilepsy |
SCN1A sodium voltage-gated channel alpha subunit 1 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 SNX27 sorting nexin 27 SCN9A sodium voltage-gated channel alpha subunit 9 |
PubMed | Reports |
| 23 | EAST syndrome |
•SeSAME syndrome •Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance Syndrome |
Intellectual disability |
KCNJ10 potassium inwardly rectifying channel subfamily J member 10 |
PubMed | Reports |
| 24 | Autism spectrum disorder |
•ASD •Autism spectrum disorders |
Intellectual disability |
TSC2 TSC complex subunit 2 SLC35A3 solute carrier family 35 member A3 AUTS2 activator of transcription and developmental regulator AUTS2 MEF2C myocyte enhancer factor 2C EHMT1 euchromatic histone lysine methyltransferase 1 TOP2B DNA topoisomerase II beta SHANK2 SH3 and multiple ankyrin repeat domains 2 SNRPN small nuclear ribonucleoprotein polypeptide N SCN2A sodium voltage-gated channel alpha subunit 2 POGZ pogo transposable element derived with ZNF domain CNTNAP2 contactin associated protein 2 PTEN phosphatase and tensin homolog HEPACAM hepatic and glial cell adhesion molecule DEAF1 DEAF1 transcription factor NF1 neurofibromin 1 SBF1 SET binding factor 1 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 KMT2D lysine methyltransferase 2D UBN2 ubinuclein 2 MAP1B microtubule associated protein 1B ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 PTCHD1 patched domain containing 1 SETD5 SET domain containing 5 PTPN11 protein tyrosine phosphatase non-receptor type 11 RERE arginine-glutamic acid dipeptide repeats NR4A2 nuclear receptor subfamily 4 group A member 2 SATB2 SATB homeobox 2 WDFY3 WD repeat and FYVE domain containing 3 ARID1B AT-rich interaction domain 1B KAT6A lysine acetyltransferase 6A STXBP1 syntaxin binding protein 1 ASXL1 ASXL transcriptional regulator 1 ADNP activity dependent neuroprotector homeobox ACTL6B actin like 6B DNMT3A DNA methyltransferase 3 alpha CNTN6 contactin 6 CIC capicua transcriptional repressor CHD2 chromodomain helicase DNA binding protein 2 CSNK2B casein kinase 2 beta KDM6A lysine demethylase 6A DYNC1H1 dynein cytoplasmic 1 heavy chain 1 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 EED embryonic ectoderm development MECP2 methyl-CpG binding protein 2 DCC DCC netrin 1 receptor TCF20 transcription factor 20 NR2F1 nuclear receptor subfamily 2 group F member 1 KDM5B lysine demethylase 5B SETD2 SET domain containing 2, histone lysine methyltransferase CEP104 centrosomal protein 104 SETD1A SET domain containing 1A, histone lysine methyltransferase SPEN spen family transcriptional repressor GRIN2B glutamate ionotropic receptor NMDA type subunit 2B DIP2A disco interacting protein 2 homolog A NBEA neurobeachin KDM3B lysine demethylase 3B ASXL2 ASXL transcriptional regulator 2 CHD3 chromodomain helicase DNA binding protein 3 EBF3 EBF transcription factor 3 GIGYF1 GRB10 interacting GYF protein 1 IRF2BPL interferon regulatory factor 2 binding protein like ASXL3 ASXL transcriptional regulator 3 BCL11B BCL11 transcription factor B HECTD4 HECT domain E3 ubiquitin protein ligase 4 AEBP1 AE binding protein 1 NRXN1 neurexin 1 ANK2 ankyrin 2 TNRC6B trinucleotide repeat containing adaptor 6B RIMS1 regulating synaptic membrane exocytosis 1 CHD8 chromodomain helicase DNA binding protein 8 KMT2A lysine methyltransferase 2A |
PubMed | Reports |
| 25 | Subcortical band heterotopia |
•Subcortical laminar heterotopia |
Epilepsy |
PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 DCX doublecortin |
PubMed | Reports |
| 26 | Dystonia 12 |
•Rapid-onset dystonia-parkinsonism •DYT-ATP1A3 |
Movement disorder |
ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 |
PubMed | Reports |
| 27 | Primary erythromelalgia |
•SCN9A-Related Inherited Erythromelalgia •Primary erythermalgia •Erythermalgia, primary |
Peripheral neuropathy |
SCN9A sodium voltage-gated channel alpha subunit 9 |
PubMed | Reports |
| 28 | Lateral meningocele syndrome |
•Lehman syndrome |
Neural tube defect |
NOTCH3 notch receptor 3 |
PubMed | Reports |
| 29 | Orofaciodigital syndrome I |
•OFD syndrome 1 •Oral-facial-digital syndrome type 1 •Orofaciodigital syndrome 1 •Papillon-Léage-Psaume syndrome •OFDS 1 |
Craniofacial and digital malformations |
OFD1 OFD1 centriole and centriolar satellite protein |
PubMed | Reports |
| 30 | Schuurs-Hoeijmakers syndrome |
•Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome •PACS1-related syndrome •Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) •Mental Retardation, Autosomal Dominant 17 |
Intellectual disability |
PACS1 phosphofurin acidic cluster sorting protein 1 |
PubMed | Reports |
| 31 | Combined oxidative phosphorylation deficiency 53 |
•Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) •C2orf69-associated COXPD53 •Elbracht-Isikay syndrome •Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation |
Intellectual disability |
C2orf69 chromosome 2 open reading frame 69 |
PubMed | Reports |
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