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

Grandparent Node:
Abnormality of prenatal development or birth (HP:0001197)

Parent Node:
Prenatal movement abnormality (HP:0001557)

..Starting node
..Decreased fetal movement (HP:0001558)

Term ID:

1558

Name:

Decreased fetal movement

Synonym:

Decreased fetal activity; Decreased fetal movements; Decreased foetal activity; Decreased foetal movement; Decreased foetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Foetal hypokinesia; Less than 10 fetal movements in 12 hours; Less than 10 foetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements; Reduced foetal movement; Reduced foetal movements

Definition:

An abnormal reduction in quantity or strength of fetal movements.

Comments:

Reference:

HP:0001558

Genes and Diseases:

Child Nodes:

........

Fetal akinesia sequence (HP:0001989)

Sister Nodes:

Increased fetal movement (HP:0010519)

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:0001558	HP:0001558	Decreased fetal movement	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0001558	HP:0001558	Decreased fetal movement	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0001558	HP:0001558	Decreased fetal movement	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001558	HP:0001558	Decreased fetal movement	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0001558	HP:0001558	Decreased fetal movement	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001558	HP:0001558	Decreased fetal movement	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001558	HP:0001558	Decreased fetal movement	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0001558	HP:0001558	Decreased fetal movement	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0001558	HP:0001558	Decreased fetal movement	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001558	HP:0001558	Decreased fetal movement	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001558	HP:0001558	Decreased fetal movement	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	15
HP:0001558	HP:0001558	Decreased fetal movement	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0001558	HP:0001558	Decreased fetal movement	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0001558	HP:0001558	Decreased fetal movement	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0001558	HP:0001558	Decreased fetal movement	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001558	HP:0001558	Decreased fetal movement	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0001558	HP:0001558	Decreased fetal movement	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional	46
HP:0001558	HP:0001558	Decreased fetal movement	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0001558	HP:0001558	Decreased fetal movement	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0001558	HP:0001558	Decreased fetal movement	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001558	HP:0001558	Decreased fetal movement	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0001558	HP:0001558	Decreased fetal movement	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001558	HP:0001558	Decreased fetal movement	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0001558	HP:0001558	Decreased fetal movement	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0001558	HP:0001558	Decreased fetal movement	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001558	HP:0001558	Decreased fetal movement	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type		74
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type		88
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	HP:0040283 - Occasional	88
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0001558	HP:0001558	Decreased fetal movement	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type		68
HP:0001558	HP:0001558	Decreased fetal movement	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0001558	HP:0001558	Decreased fetal movement	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001558	HP:0001558	Decreased fetal movement	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0001558	HP:0001558	Decreased fetal movement	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001558	HP:0001558	Decreased fetal movement	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0001558	HP:0001558	Decreased fetal movement	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0001558	HP:0001558	Decreased fetal movement	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	65
HP:0001558	HP:0001558	Decreased fetal movement	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0001558	HP:0001558	Decreased fetal movement	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	442
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	478
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0001558	HP:0001558	Decreased fetal movement	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	702
HP:0001558	HP:0001558	Decreased fetal movement	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.	104
HP:0001558	HP:0001558	Decreased fetal movement	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0001558	HP:0001558	Decreased fetal movement	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0001558	HP:0001558	Decreased fetal movement	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001558	HP:0001558	Decreased fetal movement	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001558	HP:0001558	Decreased fetal movement	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001558	HP:0001558	Decreased fetal movement	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001558	HP:0001558	Decreased fetal movement	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0001558	HP:0001558	Decreased fetal movement	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001558	HP:0001558	Decreased fetal movement	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0001558	HP:0001558	Decreased fetal movement	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0001558	HP:0001558	Decreased fetal movement	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0001558	HP:0001558	Decreased fetal movement	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0001558	HP:0001558	Decreased fetal movement	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0001558	HP:0001558	Decreased fetal movement	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0001558	HP:0001558	Decreased fetal movement	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0001558	HP:0001558	Decreased fetal movement	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0001558	HP:0001558	Decreased fetal movement	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0001558	HP:0001558	Decreased fetal movement	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0001558	HP:0001558	Decreased fetal movement	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	HP:0040283 - Occasional	91
HP:0001558	HP:0001558	Decreased fetal movement	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0001558	HP:0001558	Decreased fetal movement	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001558	HP:0001558	Decreased fetal movement	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001558	HP:0001558	Decreased fetal movement	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001558	HP:0001558	Decreased fetal movement	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0001558	HP:0001558	Decreased fetal movement	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0001558	HP:0001558	Decreased fetal movement	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0001558	HP:0001558	Decreased fetal movement	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001558	HP:0001558	Decreased fetal movement	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001558	HP:0001558	Decreased fetal movement	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001558	HP:0001558	Decreased fetal movement	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0001558	HP:0001558	Decreased fetal movement	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0001558	HP:0001558	Decreased fetal movement	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001558	HP:0001558	Decreased fetal movement	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0001558	HP:0001558	Decreased fetal movement	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001558	HP:0001558	Decreased fetal movement	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001558	HP:0001558	Decreased fetal movement	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0001558	HP:0001558	Decreased fetal movement	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0001558	HP:0001558	Decreased fetal movement	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0001558	HP:0001558	Decreased fetal movement	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001558	HP:0001558	Decreased fetal movement	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001558	HP:0001558	Decreased fetal movement	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0001558	HP:0001558	Decreased fetal movement	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001558	HP:0001558	Decreased fetal movement	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.	6
HP:0001558	HP:0001558	Decreased fetal movement	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0001558	HP:0001558	Decreased fetal movement	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0001558	HP:0001558	Decreased fetal movement	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001558	HP:0001558	Decreased fetal movement	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0001558	HP:0001558	Decreased fetal movement	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001558	HP:0001558	Decreased fetal movement	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0001558	HP:0001558	Decreased fetal movement	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001558	HP:0001558	Decreased fetal movement	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0001558	HP:0001558	Decreased fetal movement	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0001558	HP:0001558	Decreased fetal movement	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	HP:0040284 - Very rare
HP:0001558	HP:0001558	Decreased fetal movement	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0001558	HP:0001558	Decreased fetal movement	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0001558	HP:0001558	Decreased fetal movement	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0001558	HP:0001558	Decreased fetal movement	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0001558	HP:0001558	Decreased fetal movement	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0001558	HP:0001558	Decreased fetal movement	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9		13
HP:0001558	HP:0001558	Decreased fetal movement	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0001558	HP:0001558	Decreased fetal movement	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0001558	HP:0001558	Decreased fetal movement	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001558	HP:0001558	Decreased fetal movement	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0001558	HP:0001558	Decreased fetal movement	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional	645
HP:0001558	HP:0001558	Decreased fetal movement	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0001558	HP:0001558	Decreased fetal movement	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0001558	HP:0001558	Decreased fetal movement	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0001558	HP:0001558	Decreased fetal movement	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.	11
HP:0001558	HP:0001558	Decreased fetal movement	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0001558	HP:0001558	Decreased fetal movement	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001558	HP:0001558	Decreased fetal movement	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0001558	HP:0001558	Decreased fetal movement	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001558	HP:0001558	Decreased fetal movement	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0001558	HP:0001558	Decreased fetal movement	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0001558	HP:0001558	Decreased fetal movement	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0001558	HP:0001558	Decreased fetal movement	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0001558	HP:0001558	Decreased fetal movement	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0001558	HP:0001558	Decreased fetal movement	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0001558	HP:0001558	Decreased fetal movement	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0001558	HP:0001558	Decreased fetal movement	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0001558	HP:0001558	Decreased fetal movement	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0001558	HP:0001558	Decreased fetal movement	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0001558	HP:0001558	Decreased fetal movement	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001558	HP:0001558	Decreased fetal movement	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0001558	HP:0001558	Decreased fetal movement	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0001558	HP:0001558	Decreased fetal movement	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0001558	HP:0001558	Decreased fetal movement	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001558	HP:0001558	Decreased fetal movement	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001558	HP:0001558	Decreased fetal movement	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0001558	HP:0001558	Decreased fetal movement	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001558	HP:0001558	Decreased fetal movement	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001558	HP:0001558	Decreased fetal movement	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0001558	HP:0001558	Decreased fetal movement	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0001558	HP:0001558	Decreased fetal movement	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0001558	HP:0001558	Decreased fetal movement	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001558	HP:0001558	Decreased fetal movement	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0001558	HP:0001558	Decreased fetal movement	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.	1
HP:0001558	HP:0001558	Decreased fetal movement	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0001558	HP:0001558	Decreased fetal movement	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0001558	HP:0001558	Decreased fetal movement	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0001558	HP:0001558	Decreased fetal movement	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001558	HP:0001558	Decreased fetal movement	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001558	HP:0001558	Decreased fetal movement	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0001558	HP:0001558	Decreased fetal movement	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0001558	HP:0001558	Decreased fetal movement	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0001558	HP:0001558	Decreased fetal movement	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001558	HP:0001558	Decreased fetal movement	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001558	HP:0001558	Decreased fetal movement	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0001558	HP:0001558	Decreased fetal movement	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001558	HP:0001558	Decreased fetal movement	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0001558	HP:0001558	Decreased fetal movement	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0001558	HP:0001558	Decreased fetal movement	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0001558	HP:0001558	Decreased fetal movement	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001558	HP:0001558	Decreased fetal movement	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0001558	HP:0001558	Decreased fetal movement	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001558	HP:0001558	Decreased fetal movement	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001558	HP:0001558	Decreased fetal movement	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0001558	HP:0001558	Decreased fetal movement	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001558	HP:0001558	Decreased fetal movement	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	86
HP:0001558	HP:0001558	Decreased fetal movement	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0001558	HP:0001558	Decreased fetal movement	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001558	HP:0001558	Decreased fetal movement	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0001558	HP:0001558	Decreased fetal movement	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001558	HP:0001558	Decreased fetal movement	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0001558	HP:0001558	Decreased fetal movement	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	7
HP:0001558	HP:0001558	Decreased fetal movement	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0001558	HP:0001558	Decreased fetal movement	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0001558	HP:0001558	Decreased fetal movement	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0001558	HP:0001558	Decreased fetal movement	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0001558	HP:0001558	Decreased fetal movement	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0001558	HP:0001558	Decreased fetal movement	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0001558	HP:0001558	Decreased fetal movement	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.	73
HP:0001558	HP:0001558	Decreased fetal movement	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	572
HP:0001558	HP:0001558	Decreased fetal movement	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease		1200
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0001558	HP:0001558	Decreased fetal movement	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0001558	HP:0001558	Decreased fetal movement	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0001558	HP:0001558	Decreased fetal movement	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0001558	HP:0001558	Decreased fetal movement	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001558	HP:0001558	Decreased fetal movement	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0001558	HP:0001558	Decreased fetal movement	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0001558	HP:0001558	Decreased fetal movement	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional	36
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	55
HP:0001558	HP:0001558	Decreased fetal movement	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0001558	HP:0001558	Decreased fetal movement	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0001558	HP:0001558	Decreased fetal movement	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.	2
HP:0001558	HP:0001558	Decreased fetal movement	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001558	HP:0001558	Decreased fetal movement	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001558	HP:0001558	Decreased fetal movement	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	37
HP:0001558	HP:0001558	Decreased fetal movement	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0001558	HP:0001558	Decreased fetal movement	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0001558	HP:0001558	Decreased fetal movement	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0001558	HP:0001558	Decreased fetal movement	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0001558	HP:0001558	Decreased fetal movement	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0001558	HP:0001558	Decreased fetal movement	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001558	HP:0001558	Decreased fetal movement	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001558	HP:0001558	Decreased fetal movement	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0001558	HP:0001558	Decreased fetal movement	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0001558	HP:0001558	Decreased fetal movement	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001558	HP:0001558	Decreased fetal movement	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0001558	HP:0001558	Decreased fetal movement	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0001558	HP:0001558	Decreased fetal movement	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0001558	HP:0001558	Decreased fetal movement	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0001558	HP:0001558	Decreased fetal movement	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0001558	HP:0001558	Decreased fetal movement	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0001558	HP:0001558	Decreased fetal movement	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0001558	HP:0001558	Decreased fetal movement	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001558	HP:0001558	Decreased fetal movement	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0001558	HP:0001558	Decreased fetal movement	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0001558	HP:0001558	Decreased fetal movement	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001558	HP:0001558	Decreased fetal movement	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0001558	HP:0001558	Decreased fetal movement	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0001558	HP:0001558	Decreased fetal movement	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0001558	HP:0001558	Decreased fetal movement	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0001558	HP:0001558	Decreased fetal movement	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001558	HP:0001558	Decreased fetal movement	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0001558	HP:0001558	Decreased fetal movement	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0001558	HP:0001558	Decreased fetal movement	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0001558	HP:0001558	Decreased fetal movement	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0001558	HP:0001558	Decreased fetal movement	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0001558	HP:0001558	Decreased fetal movement	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001558	HP:0001558	Decreased fetal movement	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.	1
HP:0001558	HP:0001558	Decreased fetal movement	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0001558	HP:0001558	Decreased fetal movement	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0001558	HP:0001558	Decreased fetal movement	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0001558	HP:0001558	Decreased fetal movement	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0001558	HP:0001989	Fetal akinesia sequence	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001558	HP:0001989	Fetal akinesia sequence	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0001558	HP:0001989	Fetal akinesia sequence	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0001558	HP:0001989	Fetal akinesia sequence	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0001558	HP:0001989	Fetal akinesia sequence	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0001558	HP:0001989	Fetal akinesia sequence	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001558	HP:0001989	Fetal akinesia sequence	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0001558	HP:0001989	Fetal akinesia sequence	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0001558	HP:0001989	Fetal akinesia sequence	1	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0001558	HP:0001989	Fetal akinesia sequence	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0001558	HP:0001989	Fetal akinesia sequence	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0001558	HP:0001989	Fetal akinesia sequence	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001558	HP:0001989	Fetal akinesia sequence	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001558	HP:0001989	Fetal akinesia sequence	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0001558	HP:0001989	Fetal akinesia sequence	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0001558	HP:0001989	Fetal akinesia sequence	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001558	HP:0001989	Fetal akinesia sequence	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional	13
HP:0001558	HP:0001989	Fetal akinesia sequence	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare	63
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001558	HP:0001989	Fetal akinesia sequence	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001558	HP:0001989	Fetal akinesia sequence	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001558	HP:0001989	Fetal akinesia sequence	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001558	HP:0001989	Fetal akinesia sequence	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001558	HP:0001989	Fetal akinesia sequence	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001558	HP:0001989	Fetal akinesia sequence	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0001558	HP:0001989	Fetal akinesia sequence	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0001558	HP:0001989	Fetal akinesia sequence	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare	1200
HP:0001558	HP:0001989	Fetal akinesia sequence	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0001558	HP:0001989	Fetal akinesia sequence	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001558	HP:0001989	Fetal akinesia sequence	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001558	HP:0001989	Fetal akinesia sequence	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0001558	HP:0001989	Fetal akinesia sequence	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0001558	HP:0001989	Fetal akinesia sequence	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19

Genes (222) :AARS1 ACTA1 ACTL6B ADGRG6 AGRN ALG14 ALG8 ALG9 AP3B2 ARV1 ASCC1 ASCL1 ATP1A2 ATP1A3 ATP6V1A B3GLCT BICD2 BIN1 CACNA1A CACNA1B CACNA2D1 CAMKMT CCDC174 CDC42BPB CDK19 CELF2 CHAT CHRNA1 CHRND CHRNE CHRNG CHUK CLPB CLTC CNKSR2 CNTN1 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COX15 CPLX1 CPSF3 CRPPA CTBP1 CYFIP2 DALRD3 DEAF1 DHCR7 DHDDS DMPK DNA2 DNM1 DNM1L DNM2 DOK7 DPAGT1 DPH5 DPYSL5 EBF3 EEF1A2 ERBB3 ERCC5 ERGIC1 EXOSC9 FBXO28 FGF12 FGF13 FGFR3 FGFRL1 FKBP14 FLII FXR1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GBA1 GBE1 GFPT1 GGPS1 GLDN GLE1 GMPPB GNB2 GPKOW GRIN2D H19 H4C3 HACD1 HCN1 HERC2 IGF2 IGHMBP2 IL2RB IPW IQSEC2 ITGA7 KBTBD13 KCNA2 KCNB1 KIF5C KLHL40 KLHL41 LETM1 LGI4 LMNA LMOD3 MAGEL2 MAP3K20 MAP3K7 MEGF10 MKRN3 MKRN3-AS1 MPZ MTM1 MTMR14 MUSK MYCN MYF6 MYH3 MYH7 MYL1 MYL2 MYMK MYO9A MYOD1 MYPN NAA10 NAA20 NDN NEB NECAP1 NEK9 NELFA NFASC NPAP1 NSD1 NSD2 NTRK2 NUP188 NUP88 NUS1 OCA2 ODC1 PARS2 PAX7 PEX19 PEX3 PHGDH PHOX2B PIGG PIGS PLOD1 POLR2A PPM1B PPP3CA PREPL PRUNE1 PSAT1 PTRH2 PWAR1 PWRN1 RAI1 RAPSN RET RIPK4 RYR1 SCN3A SCN8A SCYL2 SELENON SHQ1 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A26 SLC38A3 SLC3A1 SLC5A7 SMN1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX10 SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TBCK TMCO1 TOR1A TPM2 TPM3 TRAIP TRAK1 TRIP4 TRPV4 TSFM TUBA1A UBA1 UBA5 UNC45B USP7 VAMP1 VPS13B WDR62 WWOX YWHAG ZBTB42 ZC4H2 ZMPSTE24

Diseases (164) :ORPHA:442835 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:161800 ORPHA:171430 ORPHA:97240 OMIM:616503 ORPHA:98914 OMIM:619036 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:616867 ORPHA:99803 OMIM:619602 ORPHA:709 ORPHA:363454 OMIM:618291 ORPHA:169189 OMIM:255200 ORPHA:163693 OMIM:616816 OMIM:619841 OMIM:253290 OMIM:616322 OMIM:608931 OMIM:265000 OMIM:613630 OMIM:616271 OMIM:612540 OMIM:616286 OMIM:618186 ORPHA:75840 ORPHA:1143 OMIM:158810 OMIM:615119 ORPHA:280 OMIM:194190 OMIM:619876 OMIM:614643 ORPHA:819 OMIM:270400 ORPHA:589821 OMIM:160900 ORPHA:352470 OMIM:614388 OMIM:615368 ORPHA:994 OMIM:618389 OMIM:254300 ORPHA:86309 OMIM:620070 OMIM:619435 OMIM:617330 OMIM:607598 OMIM:616570 OMIM:618065 OMIM:619777 OMIM:187600 OMIM:187601 OMIM:614557 OMIM:618823 ORPHA:85212 OMIM:608013 OMIM:232500 OMIM:619518 OMIM:617194 OMIM:611890 OMIM:615351 OMIM:619503 ORPHA:2570 ORPHA:231144 OMIM:619758 OMIM:176270 OMIM:604320 OMIM:618495 OMIM:615282 OMIM:615348 OMIM:615731 OMIM:617468 ORPHA:157973 OMIM:613205 ORPHA:1662 OMIM:619793 OMIM:616165 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:157800 OMIM:614399 OMIM:618184 OMIM:310400 ORPHA:596 OMIM:208150 OMIM:164280 OMIM:193700 OMIM:618414 OMIM:254940 OMIM:618198 OMIM:618975 OMIM:300855 OMIM:619717 OMIM:619334 OMIM:256030 OMIM:615833 OMIM:617022 OMIM:618356 OMIM:117550 OMIM:618804 OMIM:618393 OMIM:619075 OMIM:618578 OMIM:614886 OMIM:614882 OMIM:256520 OMIM:618143 OMIM:225400 OMIM:618603 ORPHA:163690 OMIM:617481 OMIM:616038 ORPHA:456312 OMIM:618388 OMIM:616326 OMIM:263650 ORPHA:597 ORPHA:98905 OMIM:619542 OMIM:255320 OMIM:618766 OMIM:619922 ORPHA:59 ORPHA:99742 OMIM:616794 OMIM:253300 OMIM:616330 OMIM:609136 OMIM:618484 ORPHA:88644 ORPHA:319332 OMIM:619461 OMIM:616900 OMIM:213980 OMIM:618947 OMIM:616777 OMIM:616866 OMIM:156530 OMIM:600175 OMIM:610505 OMIM:301830 OMIM:619178 ORPHA:500055 OMIM:618323 ORPHA:193 OMIM:604317 OMIM:616248 OMIM:314580 OMIM:301041 OMIM:275210

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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