Phenotype: Delayed ability to sit (HP:0025336)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: COL3A1
disease_id: OMIM:618343
disease_name: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: CHRND
disease_id: OMIM:616321
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: TRIO
disease_id: OMIM:618825
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: FOXG1
disease_id: OMIM:613454
disease_name: RETT SYNDROME, CONGENITAL VARIANT
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: CUL3
disease_id: OMIM:619239
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
gene_symbol: ZNF142
disease_id: OMIM:618425
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: PLP1
disease_id: ORPHA:280219
disease_name: Pelizaeus-Merzbacher disease, classic form
Classic PMD
gene_symbol: ACTA1
disease_id: OMIM:620265
disease_name: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE
gene_symbol: ADGRL1
disease_id: OMIM:620065
disease_name: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: DAG1
disease_id: ORPHA:370997
disease_name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
MEB disease with bilateral multicystic leucodystrophy
gene_symbol: ADCY5
disease_id: OMIM:606703
disease_name: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
gene_symbol: ADCY5
disease_id: OMIM:619651
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: GAA
disease_id: ORPHA:308552
disease_name: Glycogen storage disease due to acid maltase deficiency, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
GSD type 2, infantile onset
GSD type II, infantile onset
Glycogen storage disease type 2, infantile onset
Glycogen storage disease type II, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogenosis type 2, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: CELF2
disease_id: OMIM:619561
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: TTC5
disease_id: OMIM:619244
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
gene_symbol: GRIN2B
disease_id: OMIM:616139
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
gene_symbol: GRIN1
disease_id: OMIM:617820
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
gene_symbol: DCPS
disease_id: OMIM:616459
disease_name: AL-RAQAD SYNDROME
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: ROBO3
disease_id: OMIM:607313
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1
gene_symbol: LARGE1
disease_id: OMIM:608840
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: TAF8
disease_id: OMIM:619972
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
gene_symbol: VAMP1
disease_id: OMIM:618323
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: VPS51
disease_id: OMIM:618606
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 13
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
gene_symbol: GNAI1
disease_id: OMIM:619854
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: CTBP1
disease_id: OMIM:617915
disease_name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: EIF3F
disease_id: OMIM:618295
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: NEUROD2
disease_id: OMIM:618374
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
gene_symbol: PCYT2
disease_id: OMIM:618770
disease_name: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE
gene_symbol: CHRNB1
disease_id: OMIM:616313
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
gene_symbol: MEF2C
disease_id: OMIM:613443
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY