Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Delayed ability to walk (HP:0031936)

Term ID:

31936

Name:

Delayed ability to walk

Synonym:

Delayed walking

Definition:

A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.

Comments:

Reference:

HP:0031936

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031936	HP:0031936	Delayed ability to walk	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0031936	HP:0031936	Delayed ability to walk	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0031936	HP:0031936	Delayed ability to walk	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0031936	HP:0031936	Delayed ability to walk	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0031936	HP:0031936	Delayed ability to walk	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0031936	HP:0031936	Delayed ability to walk	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0031936	HP:0031936	Delayed ability to walk	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent	36
HP:0031936	HP:0031936	Delayed ability to walk	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0031936	HP:0031936	Delayed ability to walk	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0031936	HP:0031936	Delayed ability to walk	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0031936	HP:0031936	Delayed ability to walk	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0031936	HP:0031936	Delayed ability to walk	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0031936	HP:0031936	Delayed ability to walk	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0031936	HP:0031936	Delayed ability to walk	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0031936	HP:0031936	Delayed ability to walk	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0031936	HP:0031936	Delayed ability to walk	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0031936	HP:0031936	Delayed ability to walk	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0031936	HP:0031936	Delayed ability to walk	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	4
HP:0031936	HP:0031936	Delayed ability to walk	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0031936	HP:0031936	Delayed ability to walk	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0031936	HP:0031936	Delayed ability to walk	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0031936	HP:0031936	Delayed ability to walk	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0031936	HP:0031936	Delayed ability to walk	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0031936	HP:0031936	Delayed ability to walk	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0031936	HP:0031936	Delayed ability to walk	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0031936	HP:0031936	Delayed ability to walk	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0031936	HP:0031936	Delayed ability to walk	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0031936	HP:0031936	Delayed ability to walk	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0031936	HP:0031936	Delayed ability to walk	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0031936	HP:0031936	Delayed ability to walk	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0031936	HP:0031936	Delayed ability to walk	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0031936	HP:0031936	Delayed ability to walk	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0031936	HP:0031936	Delayed ability to walk	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0031936	HP:0031936	Delayed ability to walk	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0031936	HP:0031936	Delayed ability to walk	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0031936	HP:0031936	Delayed ability to walk	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0031936	HP:0031936	Delayed ability to walk	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031936	HP:0031936	Delayed ability to walk	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0031936	HP:0031936	Delayed ability to walk	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0031936	HP:0031936	Delayed ability to walk	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0031936	HP:0031936	Delayed ability to walk	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0031936	HP:0031936	Delayed ability to walk	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2	.	65
HP:0031936	HP:0031936	Delayed ability to walk	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent	65
HP:0031936	HP:0031936	Delayed ability to walk	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0031936	HP:0031936	Delayed ability to walk	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0031936	HP:0031936	Delayed ability to walk	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0031936	HP:0031936	Delayed ability to walk	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0031936	HP:0031936	Delayed ability to walk	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS		2
HP:0031936	HP:0031936	Delayed ability to walk	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0031936	HP:0031936	Delayed ability to walk	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0031936	HP:0031936	Delayed ability to walk	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0031936	HP:0031936	Delayed ability to walk	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0031936	HP:0031936	Delayed ability to walk	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0031936	HP:0031936	Delayed ability to walk	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0031936	HP:0031936	Delayed ability to walk	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0031936	HP:0031936	Delayed ability to walk	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0031936	HP:0031936	Delayed ability to walk	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0031936	HP:0031936	Delayed ability to walk	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0031936	HP:0031936	Delayed ability to walk	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0031936	HP:0031936	Delayed ability to walk	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0031936	HP:0031936	Delayed ability to walk	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0031936	HP:0031936	Delayed ability to walk	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0031936	HP:0031936	Delayed ability to walk	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0031936	HP:0031936	Delayed ability to walk	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0031936	HP:0031936	Delayed ability to walk	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0031936	HP:0031936	Delayed ability to walk	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0031936	HP:0031936	Delayed ability to walk	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0031936	HP:0031936	Delayed ability to walk	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0031936	HP:0031936	Delayed ability to walk	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0031936	HP:0031936	Delayed ability to walk	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0031936	HP:0031936	Delayed ability to walk	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0031936	HP:0031936	Delayed ability to walk	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0031936	HP:0031936	Delayed ability to walk	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0031936	HP:0031936	Delayed ability to walk	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0031936	HP:0031936	Delayed ability to walk	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0031936	HP:0031936	Delayed ability to walk	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0031936	HP:0031936	Delayed ability to walk	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0031936	HP:0031936	Delayed ability to walk	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0031936	HP:0031936	Delayed ability to walk	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0031936	HP:0031936	Delayed ability to walk	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0031936	HP:0031936	Delayed ability to walk	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0031936	HP:0031936	Delayed ability to walk	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0031936	HP:0031936	Delayed ability to walk	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0031936	HP:0031936	Delayed ability to walk	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0031936	HP:0031936	Delayed ability to walk	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0031936	HP:0031936	Delayed ability to walk	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0031936	HP:0031936	Delayed ability to walk	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0031936	HP:0031936	Delayed ability to walk	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0031936	HP:0031936	Delayed ability to walk	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0031936	HP:0031936	Delayed ability to walk	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0031936	HP:0031936	Delayed ability to walk	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040281 - Very frequent	108
HP:0031936	HP:0031936	Delayed ability to walk	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0031936	HP:0031936	Delayed ability to walk	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0031936	HP:0031936	Delayed ability to walk	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0031936	HP:0031936	Delayed ability to walk	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0031936	HP:0031936	Delayed ability to walk	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0031936	HP:0031936	Delayed ability to walk	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0031936	HP:0031936	Delayed ability to walk	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0031936	HP:0031936	Delayed ability to walk	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0031936	HP:0031936	Delayed ability to walk	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0031936	HP:0031936	Delayed ability to walk	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0031936	HP:0031936	Delayed ability to walk	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0031936	HP:0031936	Delayed ability to walk	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0031936	HP:0031936	Delayed ability to walk	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0031936	HP:0031936	Delayed ability to walk	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0031936	HP:0031936	Delayed ability to walk	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0031936	HP:0031936	Delayed ability to walk	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0031936	HP:0031936	Delayed ability to walk	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0031936	HP:0031936	Delayed ability to walk	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0031936	HP:0031936	Delayed ability to walk	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0031936	HP:0031936	Delayed ability to walk	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0031936	HP:0031936	Delayed ability to walk	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040282 - Frequent	13
HP:0031936	HP:0031936	Delayed ability to walk	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0031936	HP:0031936	Delayed ability to walk	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0031936	HP:0031936	Delayed ability to walk	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0031936	HP:0031936	Delayed ability to walk	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0031936	HP:0031936	Delayed ability to walk	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0031936	HP:0031936	Delayed ability to walk	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0031936	HP:0031936	Delayed ability to walk	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0031936	HP:0031936	Delayed ability to walk	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0031936	HP:0031936	Delayed ability to walk	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0031936	HP:0031936	Delayed ability to walk	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0031936	HP:0031936	Delayed ability to walk	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.	5
HP:0031936	HP:0031936	Delayed ability to walk	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0031936	HP:0031936	Delayed ability to walk	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0031936	HP:0031936	Delayed ability to walk	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0031936	HP:0031936	Delayed ability to walk	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0031936	HP:0031936	Delayed ability to walk	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0031936	HP:0031936	Delayed ability to walk	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0031936	HP:0031936	Delayed ability to walk	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0031936	HP:0031936	Delayed ability to walk	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0031936	HP:0031936	Delayed ability to walk	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0031936	HP:0031936	Delayed ability to walk	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0031936	HP:0031936	Delayed ability to walk	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0031936	HP:0031936	Delayed ability to walk	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0031936	HP:0031936	Delayed ability to walk	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0031936	HP:0031936	Delayed ability to walk	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0031936	HP:0031936	Delayed ability to walk	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0031936	HP:0031936	Delayed ability to walk	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0031936	HP:0031936	Delayed ability to walk	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0031936	HP:0031936	Delayed ability to walk	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0031936	HP:0031936	Delayed ability to walk	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0031936	HP:0031936	Delayed ability to walk	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.	7
HP:0031936	HP:0031936	Delayed ability to walk	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23	.	7
HP:0031936	HP:0031936	Delayed ability to walk	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0031936	HP:0031936	Delayed ability to walk	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0031936	HP:0031936	Delayed ability to walk	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0031936	HP:0031936	Delayed ability to walk	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0031936	HP:0031936	Delayed ability to walk	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0031936	HP:0031936	Delayed ability to walk	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0031936	HP:0031936	Delayed ability to walk	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0031936	HP:0031936	Delayed ability to walk	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0031936	HP:0031936	Delayed ability to walk	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0031936	HP:0031936	Delayed ability to walk	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0031936	HP:0031936	Delayed ability to walk	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0031936	HP:0031936	Delayed ability to walk	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0031936	HP:0031936	Delayed ability to walk	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031936	HP:0031936	Delayed ability to walk	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0031936	HP:0031936	Delayed ability to walk	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0031936	HP:0031936	Delayed ability to walk	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0031936	HP:0031936	Delayed ability to walk	0	PIGC CL E G H	5279	8960	OMIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0031936	HP:0031936	Delayed ability to walk	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0031936	HP:0031936	Delayed ability to walk	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0031936	HP:0031936	Delayed ability to walk	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0031936	HP:0031936	Delayed ability to walk	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent	7
HP:0031936	HP:0031936	Delayed ability to walk	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040284 - Very rare	65
HP:0031936	HP:0031936	Delayed ability to walk	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0031936	HP:0031936	Delayed ability to walk	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0031936	HP:0031936	Delayed ability to walk	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0031936	HP:0031936	Delayed ability to walk	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0031936	HP:0031936	Delayed ability to walk	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent	10
HP:0031936	HP:0031936	Delayed ability to walk	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0031936	HP:0031936	Delayed ability to walk	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0031936	HP:0031936	Delayed ability to walk	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	HP:0040284 - Very rare
HP:0031936	HP:0031936	Delayed ability to walk	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0031936	HP:0031936	Delayed ability to walk	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0031936	HP:0031936	Delayed ability to walk	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0031936	HP:0031936	Delayed ability to walk	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent	150
HP:0031936	HP:0031936	Delayed ability to walk	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0031936	HP:0031936	Delayed ability to walk	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0031936	HP:0031936	Delayed ability to walk	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0031936	HP:0031936	Delayed ability to walk	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0031936	HP:0031936	Delayed ability to walk	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0031936	HP:0031936	Delayed ability to walk	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0031936	HP:0031936	Delayed ability to walk	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0031936	HP:0031936	Delayed ability to walk	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0031936	HP:0031936	Delayed ability to walk	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0031936	HP:0031936	Delayed ability to walk	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0031936	HP:0031936	Delayed ability to walk	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0031936	HP:0031936	Delayed ability to walk	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0031936	HP:0031936	Delayed ability to walk	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0031936	HP:0031936	Delayed ability to walk	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0031936	HP:0031936	Delayed ability to walk	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031936	HP:0031936	Delayed ability to walk	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0031936	HP:0031936	Delayed ability to walk	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES		2
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.	9
HP:0031936	HP:0031936	Delayed ability to walk	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0031936	HP:0031936	Delayed ability to walk	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0031936	HP:0031936	Delayed ability to walk	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0031936	HP:0031936	Delayed ability to walk	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0031936	HP:0031936	Delayed ability to walk	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18		2
HP:0031936	HP:0031936	Delayed ability to walk	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	37
HP:0031936	HP:0031936	Delayed ability to walk	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0031936	HP:0031936	Delayed ability to walk	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0031936	HP:0031936	Delayed ability to walk	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0031936	HP:0031936	Delayed ability to walk	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0031936	HP:0031936	Delayed ability to walk	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0031936	HP:0031936	Delayed ability to walk	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0031936	HP:0031936	Delayed ability to walk	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0031936	HP:0031936	Delayed ability to walk	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0031936	HP:0031936	Delayed ability to walk	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0031936	HP:0031936	Delayed ability to walk	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0031936	HP:0031936	Delayed ability to walk	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0031936	HP:0031936	Delayed ability to walk	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0031936	HP:0031936	Delayed ability to walk	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031936	HP:0031936	Delayed ability to walk	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0031936	HP:0031936	Delayed ability to walk	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040284 - Very rare	71
HP:0031936	HP:0031936	Delayed ability to walk	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0031936	HP:0031936	Delayed ability to walk	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0031936	HP:0031936	Delayed ability to walk	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0031936	HP:0031936	Delayed ability to walk	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0031936	HP:0031936	Delayed ability to walk	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0031936	HP:0031936	Delayed ability to walk	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0031936	HP:0031936	Delayed ability to walk	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0031936	HP:0031936	Delayed ability to walk	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0031936	HP:0031936	Delayed ability to walk	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0031936	HP:0031936	Delayed ability to walk	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0031936	HP:0031936	Delayed ability to walk	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	278
HP:0031936	HP:0031936	Delayed ability to walk	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0031936	HP:0031936	Delayed ability to walk	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0031936	HP:0031936	Delayed ability to walk	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0031936	HP:0031936	Delayed ability to walk	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0031936	HP:0031936	Delayed ability to walk	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0031936	HP:0031936	Delayed ability to walk	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0031936	HP:0031936	Delayed ability to walk	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0031936	HP:0031936	Delayed ability to walk	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0031936	HP:0031936	Delayed ability to walk	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0031936	HP:0031936	Delayed ability to walk	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0031936	HP:0031936	Delayed ability to walk	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0031936	HP:0031936	Delayed ability to walk	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0031936	HP:0031936	Delayed ability to walk	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0031936	HP:0031936	Delayed ability to walk	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (255) :ABCA2 ACTN2 ADARB1 ADCY5 ADGRL1 AHDC1 AHI1 ALMS1 ALS2 AMN AMPD2 AP3B2 ARID1B ARL13B ASXL3 ATG5 ATG7 ATP10A ATP6V0A1 ATP6V1A BCL11B BRAT1 BRPF1 BSND CADM3 CAMK2A CASK CCDC134 CDK13 CELF2 CFL2 CHAMP1 CHD3 CHMP1A CHRNB1 CLCN3 CLCNKA CLCNKB CLDN11 CNKSR2 CNOT3 CNTNAP2 COG1 COL12A1 COL3A1 COPB1 CPLX1 CRBN CREBBP CSNK2B CTNNB1 CUBN CUL3 CWC27 CYP2U1 CYP3A4 DAG1 DDOST DHPS DHX30 DLAT DOCK3 DOLK DPF2 DPM3 DPYSL5 DYNC1H1 DYNC1I2 EBF3 EIF2AK1 EIF3F EP300 ERLIN2 EXOC6B FAR1 FASTKD2 FBLN1 FBXL3 FBXO11 FITM2 FKBP14 FLVCR1 FOXG1 FOXP1 FRMPD4 FUS GALNS GALNT2 GARS1 GNAI1 GNPTAB GRIA4 GRIK2 GRIN1 H3-3A HDAC4 HECW2 HERC2 HIVEP2 HK1 HNRNPK HS6ST2 HUWE1 HYCC1 INPP5E IQSEC1 ITPR1 JAG1 KARS1 KAT6A KDM1A KDM3B KDM5B KLHL15 KMT2E KPTN LAMA2 LARGE1 LBR LMNB1 LMNB2 LRRC32 LSS MACF1 MAGEL2 MAPK8IP3 MBOAT7 MCM3AP MECP2 MEF2C MEGF8 MID1 MKS1 MPZ MRAS MRPS14 MRPS25 MSL3 MTPAP MYO9A MYT1L NARS1 NBEA NCAPG2 NCDN NDUFA1 NDUFA12 NEUROD2 NFASC NFIX NMNAT1 NONO NUDT2 ODC1 OPHN1 P4HTM PACS2 PAK1 PAK3 PCYT2 PGAP1 PHEX PIEZO2 PIGC PIGG PIGO PLOD1 PLP1 PMPCA PNPLA2 POLR1C POLR2A POLR3B POMK PPP2CA PPP2R5D PRMT7 PUS7 RAB11B RAB3GAP1 RAB3GAP2 RAI1 RALA RBL2 REPS1 RORA RPL10 RUBCN RUSC2 RYR1 SATB1 SDHB SELENON SEMA6B SET SETD5 SHMT2 SHOC2 SIGMAR1 SLC12A2 SLC16A2 SLC18A2 SLC25A1 SLC25A12 SLC25A42 SLC37A4 SLC5A7 SLC9A7 SMARCA2 SMARCD1 SMC1A SNAP25 SNRPN SON SPG11 SPOP SPTLC1 SRCAP STAG2 SYNE1 SYT1 TANGO2 TBR1 TCF20 TFG TIMM50 TMEM106B TMEM147 TMEM222 TMEM63A TMEM94 TMTC3 TNPO3 TRAPPC10 TRAPPC9 TRIM2 TRIM8 TRIO TRIT1 TRMT1 TRRAP TTI2 UBE3A WASF1 WASHC4 WDR26 WDR4 XYLT1 YY1 ZBTB11 ZC4H2 ZEB2 ZNF148 ZNF407 ZSWIM6

Diseases (258) :OMIM:618808 OMIM:618654 OMIM:618862 OMIM:606703 OMIM:619651 OMIM:620065 ORPHA:412069 OMIM:608629 ORPHA:64 ORPHA:300605 ORPHA:35858 OMIM:615686 OMIM:617276 OMIM:135900 OMIM:612291 OMIM:615485 OMIM:617584 OMIM:619422 ORPHA:411515 OMIM:619970 OMIM:618012 OMIM:618092 OMIM:618056 OMIM:617333 ORPHA:89938 OMIM:619519 OMIM:617798 OMIM:300749 OMIM:619795 OMIM:617360 OMIM:619561 OMIM:610687 OMIM:616579 OMIM:618205 OMIM:614961 OMIM:616313 OMIM:619517 OMIM:619328 OMIM:301008 OMIM:618672 ORPHA:163681 OMIM:611209 OMIM:616471 ORPHA:536516 OMIM:618343 OMIM:619255 OMIM:617976 OMIM:607417 OMIM:618332 OMIM:618732 OMIM:615075 OMIM:619239 OMIM:250410 OMIM:615030 OMIM:619073 ORPHA:370997 OMIM:614507 OMIM:618480 OMIM:617804 ORPHA:79244 OMIM:618292 ORPHA:91131 OMIM:618027 OMIM:618992 OMIM:619435 OMIM:158600 OMIM:618492 OMIM:617330 OMIM:618878 OMIM:618295 OMIM:618333 OMIM:611225 OMIM:618395 OMIM:619338 OMIM:618855 ORPHA:404451 OMIM:606220 OMIM:618089 OMIM:618635 OMIM:614557 OMIM:609033 OMIM:613454 OMIM:613670 OMIM:300983 OMIM:253000 OMIM:618885 OMIM:619042 OMIM:619854 OMIM:252500 OMIM:617864 OMIM:619580 ORPHA:208447 OMIM:619720 OMIM:619797 OMIM:617268 OMIM:615516 OMIM:616977 OMIM:618547 ORPHA:352665 ORPHA:453504 OMIM:301025 OMIM:309590 OMIM:610532 OMIM:213300 OMIM:618687 OMIM:117360 OMIM:619574 OMIM:619147 OMIM:616268 ORPHA:477993 OMIM:618846 OMIM:618109 OMIM:300982 OMIM:618512 ORPHA:397612 OMIM:618138 OMIM:608840 OMIM:618019 OMIM:619179 OMIM:619180 OMIM:619074 OMIM:618840 OMIM:618325 OMIM:615547 OMIM:618443 OMIM:617188 OMIM:618124 OMIM:300260 OMIM:300055 OMIM:613443 OMIM:614976 ORPHA:2745 OMIM:249000 OMIM:618184 OMIM:618499 OMIM:618378 OMIM:619025 OMIM:301032 OMIM:613672 OMIM:618198 OMIM:616521 OMIM:619091 OMIM:619092 OMIM:619157 OMIM:618460 OMIM:619373 OMIM:301020 OMIM:618244 OMIM:618374 OMIM:618356 OMIM:602535 OMIM:619260 OMIM:300967 OMIM:619844 OMIM:619075 OMIM:300486 OMIM:618493 OMIM:618067 OMIM:618158 OMIM:300558 OMIM:618770 OMIM:615802 ORPHA:89936 OMIM:617146 OMIM:617816 ORPHA:488635 OMIM:614749 OMIM:225400 ORPHA:280219 ORPHA:1170 OMIM:610717 OMIM:616494 OMIM:618603 OMIM:619742 OMIM:616094 OMIM:618354 ORPHA:457279 OMIM:616355 OMIM:617157 OMIM:618342 OMIM:617807 OMIM:619420 OMIM:212720 ORPHA:477817 OMIM:619311 OMIM:619690 OMIM:617916 OMIM:618060 OMIM:300998 OMIM:615705 OMIM:617773 OMIM:117000 OMIM:619542 OMIM:619229 OMIM:619224 OMIM:602771 OMIM:618876 OMIM:618106 OMIM:615761 OMIM:619121 OMIM:607721 OMIM:619083 ORPHA:59 OMIM:618049 OMIM:618197 OMIM:612949 OMIM:618416 OMIM:619525 OMIM:617143 OMIM:301024 OMIM:619293 OMIM:618779 OMIM:301044 OMIM:616330 OMIM:617140 OMIM:618828 OMIM:618829 OMIM:136140 OMIM:301022 OMIM:618484 OMIM:618218 ORPHA:480864 OMIM:606053 OMIM:618430 OMIM:615658 ORPHA:505216 OMIM:617698 OMIM:617964 OMIM:620075 OMIM:619470 OMIM:618688 OMIM:618316 OMIM:617255 OMIM:608423 OMIM:620027 OMIM:613192 OMIM:615490 OMIM:619428 OMIM:618825 OMIM:617061 OMIM:617873 OMIM:618302 OMIM:618454 OMIM:615541 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:618347 OMIM:615777 ORPHA:506358 OMIM:618383 OMIM:301041 ORPHA:261552 ORPHA:261537 OMIM:617260 OMIM:619557 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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