Phenotype: Mild global developmental delay (HP:0011342)
Associated genes and diseases:
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: FTCD
disease_id: ORPHA:51208
disease_name: Formiminoglutamic aciduria
FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: LRP5
disease_id: ORPHA:178377
disease_name: Osteosclerosis-developmental delay-craniosynostosis syndrome
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: CDH2
disease_id: OMIM:619957
disease_name: ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: DHTKD1
disease_id: OMIM:204750
disease_name: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: RRAS2
disease_id: OMIM:618624
disease_name: NOONAN SYNDROME 12
gene_symbol: SNF8
disease_id: OMIM:620784
disease_name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: DOLK
disease_id: ORPHA:91131
disease_name: DK1-CDG
CDG syndrome type Im
CDG-Im
CDG1M
Carbohydrate deficient glycoprotein syndrome type Im
Congenital disorder of glycosylation type 1m
Congenital disorder of glycosylation type Im
Dolichol kinase deficiency
Hypotonia and ichthyosis due to dolichol phosphate deficiency
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: RPE65
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: ALB
disease_id: ORPHA:86816
disease_name: Congenital analbuminemia
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: RBBP8
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: SOX3
disease_id: ORPHA:67045
disease_name: X-linked intellectual disability with isolated growth hormone deficiency
MRGH
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: DBR1
disease_id: OMIM:619441
disease_name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
gene_symbol: ASPA
disease_id: ORPHA:314918
disease_name: Mild Canavan disease
Juvenile Canavan disease
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: KCNJ11
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: NARS2
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: ACTB
disease_id: OMIM:620475
disease_name: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
gene_symbol: CENATAC
disease_id: OMIM:620153
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4
gene_symbol: MAP1B
disease_id: OMIM:618918
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 9
gene_symbol: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: ZNF408
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: IARS1
disease_id: ORPHA:541423
disease_name: Growth delay-intellectual disability-hepatopathy syndrome
gene_symbol: ATR
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CENPE
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CPAP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PCNT
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: DNA2
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CEP152
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PLK4
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PHKB
disease_id: ORPHA:79240
disease_name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
GSD due to liver and muscle phosphorylase kinase deficiency
GSD type 9B
GSD type IXb
Glycogen storage disease type 9B
Glycogen storage disease type IXb
Glycogenosis due to liver and muscle phosphorylase kinase deficiency
Glycogenosis type 9B
Glycogenosis type IXb
gene_symbol: PTF1A
disease_id: OMIM:615935
disease_name: PANCREATIC AGENESIS 2
gene_symbol: TMEM163
disease_id: OMIM:620243
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 25
gene_symbol: PDP1
disease_id: ORPHA:79246
disease_name: Pyruvate dehydrogenase phosphatase deficiency
PDH phosphatase deficiency
gene_symbol: MT-TK
disease_id: ORPHA:1349
disease_name: Mitochondrial DNA-related cardiomyopathy and hearing loss
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: TANGO2
disease_id: ORPHA:480864
disease_name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: TBX4
disease_id: ORPHA:261279
disease_name: 17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: TOP3A
disease_id: OMIM:618097
disease_name: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: ERMARD
disease_id: OMIM:615544
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 6
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: RNF168
disease_id: OMIM:611943
disease_name: RIDDLE SYNDROME
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: CDC6
disease_id: OMIM:613805
disease_name: MEIER-GORLIN SYNDROME 5
gene_symbol: ACAD8
disease_id: ORPHA:79159
disease_name: Isobutyryl-CoA dehydrogenase deficiency
Isobutyric aciduria