GenTIGS

RGDs registry under the 'Neurodevelopmental disorders'

Disorder Name (Total=36)	Aliases	Sub-Category	Gene	Indian Reports	Link
Rett syndrome X-linked recessive	•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	Reports Updated as of Sep 15, 2022	PubMed
Angelman syndrome Autosomal dominant	•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	Reports Updated as of Sep 15, 2022	PubMed
Phelan-McDermid syndrome Autosomal dominant	•Monosomy 22q13.3 •Phelan McDermid syndrome	Intellectual disability	SHANK3 SH3 and multiple ankyrin repeat domains 3	Reports Updated as of Sep 15, 2022	PubMed
Oromandibular-limb hypogenesis spectrum Autosomal dominant	•Moebius syndrome	Cranial nerve diseases	SIM1 SIM bHLH transcription factor 1 EBF3 EBF transcription factor 3 CHN1 chimerin 1	Reports Updated as of Sep 15, 2022	PubMed
Hereditary hyperekplexia Autosomal dominant, Autosomal recessive		Movement disorders	GLRA1 glycine receptor alpha 1	Reports Updated as of Mar 09, 2023	PubMed
Noonan syndrome Autosomal dominant	•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	Reports Updated as of Mar 09, 2023	PubMed
Kabuki syndrome Autosomal dominant		Intellectual disability	KMT2D lysine methyltransferase 2D KDM6A lysine demethylase 6A KMT2A lysine methyltransferase 2A KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
Prader-willi syndrome Autosomal dominant		Intellectual disability	HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IPW imprinted in Prader-Willi syndrome MAGEL2 MAGE family member L2 MKRN3 makorin ring finger protein 3 SNORD115-1 small nucleolar RNA, C/D box 115-1 SNRPN small nuclear ribonucleoprotein polypeptide N NPAP1 nuclear pore associated protein 1 PWAR1 Prader Willi/Angelman region RNA 1 PWRN1 Prader-Willi region non-protein coding RNA 1 SNORD116-1 small nucleolar RNA, C/D box 116-1	Reports Updated as of Mar 09, 2023	PubMed
Hyperekplexia 1 Autosomal dominant, Autosomal recessive	•Stiff-person syndrome, congenital •HKPX1,Stiff man syndrome •Stiff person spectrum disorder	Movement disorder	GLRA1 glycine receptor alpha 1	Reports Updated as of Mar 09, 2023	PubMed
Obsessive compulsive disorder Autosomal dominant		Anxiety disorder	HTR2A 5-hydroxytryptamine receptor 2A SLC6A4 solute carrier family 6 member 4 HTR2C 5-hydroxytryptamine receptor 2C	Reports Updated as of Mar 09, 2023	PubMed
Sotos syndrome Autosomal dominant		Intellectual disability	NSD1 nuclear receptor binding SET domain protein 1	Reports Updated as of Mar 09, 2023	PubMed
Dystonia 28 Autosomal dominant	•DYT-KMT2B	Movement disorder	KMT2B lysine methyltransferase 2B	Reports Updated as of Mar 09, 2023	PubMed
Joubert syndrome Autosomal recessive, X-linked dominant		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	Reports Updated as of May 24, 2023	PubMed
Kleefstra syndrome Autosomal dominant		Intellectual disability	EHMT1 euchromatic histone lysine methyltransferase 1 KMT2C lysine methyltransferase 2C PAEP progestagen associated endometrial protein	Reports Updated as of May 24, 2023	PubMed
Lennox-Gastaut syndrome Autosomal dominant		Epilepsy	GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 CHD2 chromodomain helicase DNA binding protein 2 DNM1 dynamin 1	Reports Updated as of May 24, 2023	PubMed
Warburg micro syndrome Autosomal recessive	•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	Reports Updated as of Sep 05, 2023	PubMed
Williams syndrome Autosomal dominant		Intellectual disability	ELN elastin	Reports Updated as of Sep 05, 2023	PubMed
Fragile X syndrome X-linked recessive		Intellectual disability	FMR1 fragile X messenger ribonucleoprotein 1	Reports Updated as of Sep 05, 2023	PubMed
Silver-Russell syndrome Autosomal dominant	•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	Reports Updated as of Nov 02, 2023	PubMed
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Autosomal dominant	•ADNP syndrome •HVDAS •Helsmoortel-Van Der Aa Syndrome	Intellectual disability	ADNP activity dependent neuroprotector homeobox	Reports Updated as of Nov 30, 2023	PubMed
Hemimegalencephaly	•Unilateral megalencephaly	Epilepsy	PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding PTEN phosphatase and tensin homolog	Reports Updated as of Dec 07, 2023	PubMed
Severe myoclonic epilepsy in infancy Autosomal dominant	•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	Reports Updated as of Dec 29, 2023	PubMed
EAST syndrome Autosomal recessive	•SeSAME syndrome •Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance Syndrome	Intellectual disability	KCNJ10 potassium inwardly rectifying channel subfamily J member 10	Reports Updated as of Dec 29, 2023	PubMed
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	Reports Updated as of Dec 29, 2023	PubMed
Subcortical band heterotopia Autosomal recessive, X-linked dominant	•Subcortical laminar heterotopia	Epilepsy	PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 DCX doublecortin	Reports Updated as of Dec 29, 2023	PubMed
Dystonia 12 Autosomal dominant	•Rapid-onset dystonia-parkinsonism •DYT-ATP1A3	Movement disorder	ATP1A3 ATPase Na+/K+ transporting subunit alpha 3	Reports Updated as of Jan 04, 2024	PubMed
Primary erythromelalgia Autosomal dominant	•SCN9A-Related Inherited Erythromelalgia •Primary erythermalgia •Erythermalgia, primary	Peripheral neuropathy	SCN9A sodium voltage-gated channel alpha subunit 9	Reports Updated as of Jan 04, 2024	PubMed
Lateral meningocele syndrome Autosomal dominant	•Lehman syndrome	Neural tube defect	NOTCH3 notch receptor 3	Reports Updated as of Feb 01, 2024	PubMed
Orofaciodigital syndrome I X-linked recessive	•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	Reports Updated as of Feb 01, 2024	PubMed
Schuurs-Hoeijmakers syndrome Autosomal dominant	•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	Reports Updated as of Jul 20, 2024	PubMed
Combined oxidative phosphorylation deficiency 53 Autosomal recessive	•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	Reports Updated as of Jul 20, 2024	PubMed
Microcephaly 5, primary, autosomal recessive Autosomal recessive	•ASPM autosomal recessive primary microcephaly •autosomal recessive primary microcephaly caused by mutation in ASPM	Intellectual disability	ASPM assembly factor for spindle microtubules	Reports Updated as of Feb 01, 2025	PubMed
Allan-Herndon-Dudley syndrome X-linked recessive	•MCT8-specific thyroid hormone cell-membrane transporter deficiency •monocarboxylate transporter 8 deficiency •MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency •mental retardation and muscular atrophy •monocarboxylate transporter-8 deficiency •T3 resistance •Triiodothyronine resistance •X-linked mental retardation with hypotonia •Allan-Herndon syndrome •MCT8 deficiency •MCT8-specific thyroid hormone cell membrane transporter deficiency •MCT8-Specific Thyroid Hormone Cell Transporter Deficiency •X-linked intellectual disability-hypotonia syndrome •AHDS	Intellectual disability	SLC16A2 solute carrier family 16 member 2	Reports Updated as of Feb 01, 2025	PubMed
SIN3A-related intellectual disability syndrome due to a point mutation Autosomal dominant	•Chromosome 15q24 deletion syndrome •15q24 microdeletion syndrome •Witteveen-kolk syndrome •15q24 recurrent microdeletion syndrome •Del(15)(q24) •monosomy 15q24	Intellectual disability	SIN3A SIN3 transcription regulator family member A	Reports Updated as of Feb 04, 2025	PubMed
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Autosomal recessive	•-	Intellectual disability	NALCN sodium leak channel, non-selective	Reports Updated as of Feb 26, 2025	PubMed
Early infantile epileptic encephalopathy with suppression bursts Autosomal dominant, Autosomal recessive, X-linked recessive	•Developmental and epileptic encephalopathy •Ohtahara syndrome •Early infantile epileptic encephalopathy •infantile spasm •early infantile epileptic encephalopathy with burst-suppression •early infantile epileptic encephalopathy with suppression-bursts •epileptic encephalopathy, early infantile • epileptic encephalopathy, infantile •infantile epileptic encephalopathy •DEE •EIEE	Epilepsy	KCNQ2 potassium voltage-gated channel subfamily Q member 2 KCNH5 potassium voltage-gated channel subfamily H member 5 SCN1A sodium voltage-gated channel alpha subunit 1 SCN8A sodium voltage-gated channel alpha subunit 8 STXBP1 syntaxin binding protein 1 SPTAN1 spectrin alpha, non-erythrocytic 1 SLC25A22 solute carrier family 25 member 22 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 GNAO1 G protein subunit alpha o1 PIGP phosphatidylinositol glycan anchor biosynthesis class P ARHGEF15 Rho guanine nucleotide exchange factor 15 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 CDKL5 cyclin dependent kinase like 5 GOT2 glutamic-oxaloacetic transaminase 2 KCNB1 potassium voltage-gated channel subfamily B member 1 SNAP25 synaptosome associated protein 25 SCN2A sodium voltage-gated channel alpha subunit 2 CACNA1E calcium voltage-gated channel subunit alpha1 E KCNC2 potassium voltage-gated channel subfamily C member 2 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ANO4 anoctamin 4 UBA5 ubiquitin like modifier activating enzyme 5 GRIA3 glutamate ionotropic receptor AMPA type subunit 3	Reports Updated as of Feb 26, 2025	PubMed