Phenotype: Broad-based gait (HP:0002136)
Associated genes and diseases:
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: NBEA
disease_id: OMIM:619157
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: ATCAY
disease_id: ORPHA:94122
disease_name: Cerebellar ataxia, Cayman type
Cayman ataxia
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
gene_symbol: ACTL6B
disease_id: OMIM:618470
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
gene_symbol: RAI1
disease_id: ORPHA:477817
disease_name: PMP22-RAI1 contiguous gene duplication syndrome
17p11.2p12 microduplication syndrome
Dup(17)(p11.2p12)
Trisomy 17p11.2-p12
Trisomy 17p11.2p12
Yuan-Harel-Lupski syndrome
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: NDUFAF2
disease_id: OMIM:618233
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: CCDC88C
disease_id: ORPHA:423275
disease_name: Spinocerebellar ataxia type 40
SCA40
gene_symbol: DNAJC12
disease_id: OMIM:617384
disease_name: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
gene_symbol: PIEZO2
disease_id: OMIM:617146
disease_name: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: YWHAG
disease_id: OMIM:617665
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
gene_symbol: DDX3X
disease_id: ORPHA:457260
disease_name: X-linked intellectual disability-hypotonia-movement disorder syndrome
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: EXT2
disease_id: ORPHA:466926
disease_name: Seizures-scoliosis-macrocephaly syndrome
SSM syndrome
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: MAP1B
disease_id: OMIM:618918
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 9
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:98795
disease_name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
UPD(15)pat
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: ADGRG1
disease_id: OMIM:606854
disease_name: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
gene_symbol: TRIM2
disease_id: OMIM:615490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
gene_symbol: HTT
disease_id: ORPHA:248111
disease_name: Juvenile Huntington disease
JHD
Juvenile Huntington chorea
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: RNU12
disease_id: OMIM:620208
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation
gene_symbol: NRXN1
disease_id: OMIM:614325
disease_name: PITT-HOPKINS-LIKE SYNDROME 2
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: CERT1
disease_id: OMIM:616351
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: PURA
disease_id: ORPHA:438216
disease_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: HACE1
disease_id: OMIM:616756
disease_name: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
gene_symbol: MECP2
disease_id: ORPHA:3077
disease_name: X-linked intellectual disability-psychosis-macroorchidism syndrome
Lindsay-Burn syndrome
PPM-X
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: AP5Z1
disease_id: ORPHA:306511
disease_name: Autosomal recessive spastic paraplegia type 48
SPG48
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: SGCG
disease_id: ORPHA:353
disease_name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Autosomal recessive limb-girdle muscular dystrophy type 2C
Gamma-sarcoglycan-related LGMD R5
Gamma-sarcoglycanopathy
LGMD due to gamma-sarcoglycan deficiency
LGMD type 2C
LGMD2C
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2C
gene_symbol: KCND3
disease_id: ORPHA:98772
disease_name: Spinocerebellar ataxia type 19/22
SCA19/22
gene_symbol: TMEM222
disease_id: OMIM:619470
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: PPM1D
disease_id: OMIM:617450
disease_name: JANSEN-DE VRIES SYNDROME
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: VCP
disease_id: ORPHA:435387
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: UROC1
disease_id: OMIM:276880
disease_name: UROCANASE DEFICIENCY
gene_symbol: UROC1
disease_id: ORPHA:210128
disease_name: Urocanic aciduria
Encephalopathy due to urocanase deficiency
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
gene_symbol: COPB2
disease_id: OMIM:619884
disease_name: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: PRDM13
disease_id: OMIM:619761
disease_name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: DEAF1
disease_id: ORPHA:468620
disease_name: Intellectual disability-epilepsy-extrapyramidal syndrome
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: TPP1
disease_id: ORPHA:284324
disease_name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: GTF2E2
disease_id: OMIM:616943
disease_name: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: GPT2
disease_id: ORPHA:477673
disease_name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: PRX
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: SGCB
disease_id: ORPHA:119
disease_name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Autosomal recessive limb-girdle muscular dystrophy type 2E
Beta-sarcoglycan-related LGMD R4
Beta-sarcoglycanopathy
LGMD due to beta-sarcoglycan deficiency
LGMD type 2E
LGMD2E
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Limb-girdle muscular dystrophy type 2E
gene_symbol: PMP22
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: MPZ
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: EGR2
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY