Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
..Starting node
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Prenatal movement abnormality (HP:0001557)help
Term ID: 1557
Name: Prenatal movement abnormality
Synonym: Abnormal intrauterine movements
Definition: An abnormality of fetal movement.
Comments:
Reference: HP:0001557
Genes and Diseases:
 
       Child Nodes:
........expandDecreased fetal movement (HP:0001558) help
................... HP:0001989 Fetal akinesia sequence
........expandIncreased fetal movement (HP:0010519) help

 Sister Nodes: 
..expandAbnormal delivery (HP:0001787) help
..expandAbnormalities of placenta or umbilical cord (HP:0001194) help
..expandAbnormality of the amniotic fluid (HP:0001560) help
..expandFemale fetal virilization (HP:0031170) help
..expandFetal ascites (HP:0001791) help
..expandFetal distress (HP:0025116) help
..expandFetal ultrasound soft marker (HP:0011425) help
..expandHydrops fetalis (HP:0001789) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntrauterine fetal demise of one twin after midgestation (HP:0030753) help
..expandLow APGAR score (HP:0030917) help
..expandPostterm pregnancy (HP:0031169) help
..expandPremature birth (HP:0001622) help
..expandPrenatal maternal abnormality (HP:0002686) help
..expandTwin-to-twin transfusion (HP:0031110) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001557HP:0001557Prenatal movement abnormality0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathy96
HP:0001557HP:0001557Prenatal movement abnormality0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0001557HP:0001557Prenatal movement abnormality0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001557HP:0001557Prenatal movement abnormality0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0001557HP:0001557Prenatal movement abnormality0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0001557HP:0001557Prenatal movement abnormality0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent.227
HP:0001557HP:0001557Prenatal movement abnormality0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent227
HP:0001557HP:0001557Prenatal movement abnormality0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001557HP:0001557Prenatal movement abnormality0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0001557HP:0001557Prenatal movement abnormality0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0001557HP:0001557Prenatal movement abnormality0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001557HP:0001557Prenatal movement abnormality0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0001557HP:0001557Prenatal movement abnormality0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001557HP:0001557Prenatal movement abnormality0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0001557HP:0001557Prenatal movement abnormality0ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0001557HP:0001557Prenatal movement abnormality0ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0001557HP:0001557Prenatal movement abnormality0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0001557HP:0001557Prenatal movement abnormality0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0001557HP:0001557Prenatal movement abnormality0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001557HP:0001557Prenatal movement abnormality0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0001557HP:0001557Prenatal movement abnormality0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy46
HP:0001557HP:0001557Prenatal movement abnormality0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0001557HP:0001557Prenatal movement abnormality0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0001557HP:0001557Prenatal movement abnormality0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001557HP:0001557Prenatal movement abnormality0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0001557HP:0001557Prenatal movement abnormality0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0001557HP:0001557Prenatal movement abnormality0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001557HP:0001557Prenatal movement abnormality0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0001557HP:0001557Prenatal movement abnormality0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndrome1
HP:0001557HP:0001557Prenatal movement abnormality0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0001557HP:0001557Prenatal movement abnormality0CDC42BPB CL E G H95781738OMIM:619841
HP:0001557HP:0001557Prenatal movement abnormality0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0001557HP:0001557Prenatal movement abnormality0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0001557HP:0001557Prenatal movement abnormality0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0001557HP:0001557Prenatal movement abnormality0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel88
HP:0001557HP:0001557Prenatal movement abnormality0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0001557HP:0001557Prenatal movement abnormality0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0001557HP:0001557Prenatal movement abnormality0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0001557HP:0001557Prenatal movement abnormality0CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0001557HP:0001557Prenatal movement abnormality0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001557HP:0001557Prenatal movement abnormality0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001557HP:0001557Prenatal movement abnormality0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0001557HP:0001557Prenatal movement abnormality0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0001557HP:0001557Prenatal movement abnormality0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 79
HP:0001557HP:0001557Prenatal movement abnormality0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 39
HP:0001557HP:0001557Prenatal movement abnormality0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0001557HP:0001557Prenatal movement abnormality0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0001557HP:0001557Prenatal movement abnormality0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0001557HP:0001557Prenatal movement abnormality0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0001557HP:0001557Prenatal movement abnormality0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0001557HP:0001557Prenatal movement abnormality0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0001557HP:0001557Prenatal movement abnormality0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0001557HP:0001557Prenatal movement abnormality0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0001557HP:0001557Prenatal movement abnormality0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0001557HP:0001557Prenatal movement abnormality0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6104
HP:0001557HP:0001557Prenatal movement abnormality0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0001557HP:0001557Prenatal movement abnormality0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001557HP:0001557Prenatal movement abnormality0CPSF3 CL E G H516922326OMIM:619876
HP:0001557HP:0001557Prenatal movement abnormality0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001557HP:0001557Prenatal movement abnormality0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001557HP:0001557Prenatal movement abnormality0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001557HP:0001557Prenatal movement abnormality0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001557HP:0001557Prenatal movement abnormality0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001557HP:0001557Prenatal movement abnormality0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001557HP:0001557Prenatal movement abnormality0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0001557HP:0001557Prenatal movement abnormality0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0001557HP:0001557Prenatal movement abnormality0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1152
HP:0001557HP:0001557Prenatal movement abnormality0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0001557HP:0001557Prenatal movement abnormality0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0001557HP:0001557Prenatal movement abnormality0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0001557HP:0001557Prenatal movement abnormality0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0001557HP:0001557Prenatal movement abnormality0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0001557HP:0001557Prenatal movement abnormality0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0001557HP:0001557Prenatal movement abnormality0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0001557HP:0001557Prenatal movement abnormality0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0001557HP:0001557Prenatal movement abnormality0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0001557HP:0001557Prenatal movement abnormality0DPH5 CL E G H5161124270OMIM:620070
HP:0001557HP:0001557Prenatal movement abnormality0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001557HP:0001557Prenatal movement abnormality0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001557HP:0001557Prenatal movement abnormality0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0001557HP:0001557Prenatal movement abnormality0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 212
HP:0001557HP:0001557Prenatal movement abnormality0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0001557HP:0001557Prenatal movement abnormality0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0001557HP:0001557Prenatal movement abnormality0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0001557HP:0001557Prenatal movement abnormality0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001557HP:0001557Prenatal movement abnormality0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001557HP:0001557Prenatal movement abnormality0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001557HP:0001557Prenatal movement abnormality0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0001557HP:0001557Prenatal movement abnormality0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0001557HP:0001557Prenatal movement abnormality0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001557HP:0001557Prenatal movement abnormality0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0001557HP:0001557Prenatal movement abnormality0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0001557HP:0001557Prenatal movement abnormality0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001557HP:0001557Prenatal movement abnormality0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001557HP:0001557Prenatal movement abnormality0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0001557HP:0001557Prenatal movement abnormality0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0001557HP:0001557Prenatal movement abnormality0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0001557HP:0001557Prenatal movement abnormality0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher disease
HP:0001557HP:0001557Prenatal movement abnormality0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001557HP:0001557Prenatal movement abnormality0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0001557HP:0001557Prenatal movement abnormality0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0001557HP:0001557Prenatal movement abnormality0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001557HP:0001557Prenatal movement abnormality0GLDN CL E G H34203529514OMIM:617194Lethal congenital contracture syndrome 116
HP:0001557HP:0001557Prenatal movement abnormality0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0001557HP:0001557Prenatal movement abnormality0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0001557HP:0001557Prenatal movement abnormality0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0001557HP:0001557Prenatal movement abnormality0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001557HP:0001557Prenatal movement abnormality0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001557HP:0001557Prenatal movement abnormality0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001557HP:0001557Prenatal movement abnormality0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication4
HP:0001557HP:0001557Prenatal movement abnormality0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001557HP:0001557Prenatal movement abnormality0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001557HP:0001557Prenatal movement abnormality0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0001557HP:0001557Prenatal movement abnormality0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0001557HP:0001557Prenatal movement abnormality0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001557HP:0001557Prenatal movement abnormality0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001557HP:0001557Prenatal movement abnormality0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication9
HP:0001557HP:0001557Prenatal movement abnormality0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0001557HP:0001557Prenatal movement abnormality0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001557HP:0001557Prenatal movement abnormality0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0001557HP:0001557Prenatal movement abnormality0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0001557HP:0001557Prenatal movement abnormality0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0001557HP:0001557Prenatal movement abnormality0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0001557HP:0001557Prenatal movement abnormality0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0001557HP:0001557Prenatal movement abnormality0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001557HP:0001557Prenatal movement abnormality0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0001557HP:0001557Prenatal movement abnormality0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathy28
HP:0001557HP:0001557Prenatal movement abnormality0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0001557HP:0001557Prenatal movement abnormality0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0001557HP:0001557Prenatal movement abnormality0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 913
HP:0001557HP:0001557Prenatal movement abnormality0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathy13
HP:0001557HP:0001557Prenatal movement abnormality0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001557HP:0001557Prenatal movement abnormality0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001557HP:0001557Prenatal movement abnormality0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0001557HP:0001557Prenatal movement abnormality0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutation645
HP:0001557HP:0001557Prenatal movement abnormality0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0001557HP:0001557Prenatal movement abnormality0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0001557HP:0001557Prenatal movement abnormality0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0001557HP:0001557Prenatal movement abnormality0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0001557HP:0001557Prenatal movement abnormality0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathy11
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutation63
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0001557HP:0001557Prenatal movement abnormality0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0001557HP:0001557Prenatal movement abnormality0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0001557HP:0001557Prenatal movement abnormality0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0001557HP:0001557Prenatal movement abnormality0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0001557HP:0001557Prenatal movement abnormality0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001557HP:0001557Prenatal movement abnormality0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0001557HP:0001557Prenatal movement abnormality0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0001557HP:0001557Prenatal movement abnormality0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0001557HP:0001557Prenatal movement abnormality0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0001557HP:0001557Prenatal movement abnormality0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0001557HP:0001557Prenatal movement abnormality0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequence72
HP:0001557HP:0001557Prenatal movement abnormality0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0001557HP:0001557Prenatal movement abnormality0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0001557HP:0001557Prenatal movement abnormality0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001557HP:0001557Prenatal movement abnormality0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0001557HP:0001557Prenatal movement abnormality0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0001557HP:0001557Prenatal movement abnormality0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001557HP:0001557Prenatal movement abnormality0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0001557HP:0001557Prenatal movement abnormality0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0001557HP:0001557Prenatal movement abnormality0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0001557HP:0001557Prenatal movement abnormality0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0001557HP:0001557Prenatal movement abnormality0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequence
HP:0001557HP:0001557Prenatal movement abnormality0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001557HP:0001557Prenatal movement abnormality0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0001557HP:0001557Prenatal movement abnormality0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001557HP:0001557Prenatal movement abnormality0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001557HP:0001557Prenatal movement abnormality0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0001557HP:0001557Prenatal movement abnormality0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutation
HP:0001557HP:0001557Prenatal movement abnormality0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001557HP:0001557Prenatal movement abnormality0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001557HP:0001557Prenatal movement abnormality0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001557HP:0001557Prenatal movement abnormality0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0001557HP:0001557Prenatal movement abnormality0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0001557HP:0001557Prenatal movement abnormality0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0001557HP:0001557Prenatal movement abnormality0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0001557HP:0001557Prenatal movement abnormality0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathy745
HP:0001557HP:0001557Prenatal movement abnormality0NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 211
HP:0001557HP:0001557Prenatal movement abnormality0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001557HP:0001557Prenatal movement abnormality0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0001557HP:0001557Prenatal movement abnormality0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0001557HP:0001557Prenatal movement abnormality0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001557HP:0001557Prenatal movement abnormality0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001557HP:0001557Prenatal movement abnormality0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0001557HP:0001557Prenatal movement abnormality0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001557HP:0001557Prenatal movement abnormality0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001557HP:0001557Prenatal movement abnormality0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0001557HP:0001557Prenatal movement abnormality0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001557HP:0001557Prenatal movement abnormality0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0001557HP:0001557Prenatal movement abnormality0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0001557HP:0001557Prenatal movement abnormality0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequence
HP:0001557HP:0001557Prenatal movement abnormality0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4
HP:0001557HP:0001557Prenatal movement abnormality0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001557HP:0001557Prenatal movement abnormality0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0001557HP:0001557Prenatal movement abnormality0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0001557HP:0001557Prenatal movement abnormality0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0001557HP:0001557Prenatal movement abnormality0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001557HP:0001557Prenatal movement abnormality0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0001557HP:0001557Prenatal movement abnormality0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001557HP:0001557Prenatal movement abnormality0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0001557HP:0001557Prenatal movement abnormality0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger)47
HP:0001557HP:0001557Prenatal movement abnormality0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0001557HP:0001557Prenatal movement abnormality0PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0001557HP:0001557Prenatal movement abnormality0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0001557HP:0001557Prenatal movement abnormality0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001557HP:0001557Prenatal movement abnormality0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001557HP:0001557Prenatal movement abnormality0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040282 - Frequent6
HP:0001557HP:0001557Prenatal movement abnormality0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001557HP:0001557Prenatal movement abnormality0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndrome
HP:0001557HP:0001557Prenatal movement abnormality0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001557HP:0001557Prenatal movement abnormality0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndrome7
HP:0001557HP:0001557Prenatal movement abnormality0PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndrome7
HP:0001557HP:0001557Prenatal movement abnormality0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0001557HP:0001557Prenatal movement abnormality0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0001557HP:0001557Prenatal movement abnormality0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0001557HP:0001557Prenatal movement abnormality0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0001557HP:0001557Prenatal movement abnormality0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0001557HP:0001557Prenatal movement abnormality0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequence73
HP:0001557HP:0001557Prenatal movement abnormality0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0001557HP:0001557Prenatal movement abnormality0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0001557HP:0001557Prenatal movement abnormality0RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0001557HP:0001557Prenatal movement abnormality0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0001557HP:0001557Prenatal movement abnormality0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0001557HP:0001557Prenatal movement abnormality0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0001557HP:0001557Prenatal movement abnormality0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0001557HP:0001557Prenatal movement abnormality0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001557HP:0001557Prenatal movement abnormality0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0001557HP:0001557Prenatal movement abnormality0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0001557HP:0001557Prenatal movement abnormality0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0001557HP:0001557Prenatal movement abnormality0SHQ1 CL E G H5516425543OMIM:619922
HP:0001557HP:0001557Prenatal movement abnormality0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0001557HP:0001557Prenatal movement abnormality0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0001557HP:0001557Prenatal movement abnormality0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequence2
HP:0001557HP:0001557Prenatal movement abnormality0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001557HP:0001557Prenatal movement abnormality0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001557HP:0001557Prenatal movement abnormality0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0001557HP:0001557Prenatal movement abnormality0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephaly36
HP:0001557HP:0001557Prenatal movement abnormality0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0001557HP:0001557Prenatal movement abnormality0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndrome55
HP:0001557HP:0001557Prenatal movement abnormality0SLC3A1 CL E G H651911025ORPHA:163690Hypotonia-cystinuria syndrome55
HP:0001557HP:0001557Prenatal movement abnormality0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0001557HP:0001557Prenatal movement abnormality0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0001557HP:0001557Prenatal movement abnormality0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0001557HP:0001557Prenatal movement abnormality0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0001557HP:0001557Prenatal movement abnormality0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0001557HP:0001557Prenatal movement abnormality0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001557HP:0001557Prenatal movement abnormality0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001557Prenatal movement abnormality0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutation37
HP:0001557HP:0001557Prenatal movement abnormality0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0001557HP:0001557Prenatal movement abnormality0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0001557HP:0001557Prenatal movement abnormality0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0001557HP:0001557Prenatal movement abnormality0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001557HP:0001557Prenatal movement abnormality0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0001557HP:0001557Prenatal movement abnormality0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0001557HP:0001557Prenatal movement abnormality0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001557HP:0001557Prenatal movement abnormality0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0001557HP:0001557Prenatal movement abnormality0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0001557HP:0001557Prenatal movement abnormality0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001557HP:0001557Prenatal movement abnormality0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0001557HP:0001557Prenatal movement abnormality0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0001557HP:0001557Prenatal movement abnormality0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0001557HP:0001557Prenatal movement abnormality0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0001557HP:0001557Prenatal movement abnormality0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001557HP:0001557Prenatal movement abnormality0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0001557HP:0001557Prenatal movement abnormality0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0001557HP:0001557Prenatal movement abnormality0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0001557HP:0001557Prenatal movement abnormality0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0001557HP:0001557Prenatal movement abnormality0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0001557HP:0001557Prenatal movement abnormality0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0001557HP:0001557Prenatal movement abnormality0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0001557HP:0001557Prenatal movement abnormality0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0001557HP:0001557Prenatal movement abnormality0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0001557HP:0001557Prenatal movement abnormality0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0001557HP:0001557Prenatal movement abnormality0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0001557HP:0001557Prenatal movement abnormality0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0001557HP:0001557Prenatal movement abnormality0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequence106
HP:0001557HP:0001557Prenatal movement abnormality0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0001557HP:0001557Prenatal movement abnormality0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0001557HP:0001557Prenatal movement abnormality0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0001557HP:0001557Prenatal movement abnormality0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0001557HP:0001557Prenatal movement abnormality0VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic2
HP:0001557HP:0001557Prenatal movement abnormality0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0001557HP:0001557Prenatal movement abnormality0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0001557HP:0001557Prenatal movement abnormality0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001557HP:0001557Prenatal movement abnormality0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0001557HP:0001557Prenatal movement abnormality0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001557HP:0001557Prenatal movement abnormality0ZBTB42 CL E G H10012892732550OMIM:616248Lethal congenital contracture syndrome 61
HP:0001557HP:0001557Prenatal movement abnormality0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0001557HP:0001557Prenatal movement abnormality0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001557HP:0001557Prenatal movement abnormality0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0001557HP:0001557Prenatal movement abnormality0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0001557HP:0001558Decreased fetal movement1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0001557HP:0001558Decreased fetal movement1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0001557HP:0001558Decreased fetal movement1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0001557HP:0001558Decreased fetal movement1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0001557HP:0001558Decreased fetal movement1ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001557HP:0001558Decreased fetal movement1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001557HP:0001558Decreased fetal movement1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0001557HP:0001558Decreased fetal movement1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0001557HP:0001558Decreased fetal movement1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0001557HP:0001558Decreased fetal movement1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001557HP:0001558Decreased fetal movement1ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0001557HP:0001558Decreased fetal movement1ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040283 - Occasional15
HP:0001557HP:0001558Decreased fetal movement1ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0001557HP:0001558Decreased fetal movement1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0001557HP:0001558Decreased fetal movement1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0001557HP:0001558Decreased fetal movement1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001557HP:0001558Decreased fetal movement1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0001557HP:0001558Decreased fetal movement1BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0001557HP:0001558Decreased fetal movement1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0001557HP:0001558Decreased fetal movement1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0001557HP:0001558Decreased fetal movement1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001557HP:0001558Decreased fetal movement1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0001557HP:0001558Decreased fetal movement1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001557HP:0001558Decreased fetal movement1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0001557HP:0001558Decreased fetal movement1CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation.1
HP:0001557HP:0001558Decreased fetal movement1CDC42BPB CL E G H95781738OMIM:619841
HP:0001557HP:0001558Decreased fetal movement1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0001557HP:0001558Decreased fetal movement1CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0001557HP:0001558Decreased fetal movement1CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0001557HP:0001558Decreased fetal movement1CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channelHP:0040283 - Occasional88
HP:0001557HP:0001558Decreased fetal movement1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0001557HP:0001558Decreased fetal movement1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001557HP:0001558Decreased fetal movement1CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0001557HP:0001558Decreased fetal movement1CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0001557HP:0001558Decreased fetal movement1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001557HP:0001558Decreased fetal movement1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0001557HP:0001558Decreased fetal movement1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0001557HP:0001558Decreased fetal movement1CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001557HP:0001558Decreased fetal movement1CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001557HP:0001558Decreased fetal movement1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0001557HP:0001558Decreased fetal movement1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0001557HP:0001558Decreased fetal movement1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0001557HP:0001558Decreased fetal movement1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0001557HP:0001558Decreased fetal movement1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0001557HP:0001558Decreased fetal movement1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0001557HP:0001558Decreased fetal movement1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0001557HP:0001558Decreased fetal movement1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0001557HP:0001558Decreased fetal movement1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0001557HP:0001558Decreased fetal movement1COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0001557HP:0001558Decreased fetal movement1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001557HP:0001558Decreased fetal movement1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0001557HP:0001558Decreased fetal movement1CPSF3 CL E G H516922326OMIM:619876
HP:0001557HP:0001558Decreased fetal movement1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0001557HP:0001558Decreased fetal movement1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001557HP:0001558Decreased fetal movement1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001557HP:0001558Decreased fetal movement1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0001557HP:0001558Decreased fetal movement1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001557HP:0001558Decreased fetal movement1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0001557HP:0001558Decreased fetal movement1DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0001557HP:0001558Decreased fetal movement1DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0001557HP:0001558Decreased fetal movement1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0001557HP:0001558Decreased fetal movement1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0001557HP:0001558Decreased fetal movement1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001557HP:0001558Decreased fetal movement1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0001557HP:0001558Decreased fetal movement1DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0001557HP:0001558Decreased fetal movement1DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0001557HP:0001558Decreased fetal movement1DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0001557HP:0001558Decreased fetal movement1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familialHP:0040283 - Occasional91
HP:0001557HP:0001558Decreased fetal movement1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0001557HP:0001558Decreased fetal movement1DPH5 CL E G H5161124270OMIM:620070
HP:0001557HP:0001558Decreased fetal movement1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001557HP:0001558Decreased fetal movement1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001557HP:0001558Decreased fetal movement1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0001557HP:0001558Decreased fetal movement1ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0001557HP:0001558Decreased fetal movement1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0001557HP:0001558Decreased fetal movement1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001557HP:0001558Decreased fetal movement1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001557HP:0001558Decreased fetal movement1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001557HP:0001558Decreased fetal movement1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0001557HP:0001558Decreased fetal movement1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0001557HP:0001558Decreased fetal movement1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0001557HP:0001558Decreased fetal movement1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0001557HP:0001558Decreased fetal movement1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0001557HP:0001558Decreased fetal movement1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001557HP:0001558Decreased fetal movement1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001557HP:0001558Decreased fetal movement1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0001557HP:0001558Decreased fetal movement1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0001557HP:0001558Decreased fetal movement1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0001557HP:0001558Decreased fetal movement1GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0001557HP:0001558Decreased fetal movement1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001557HP:0001558Decreased fetal movement1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001557HP:0001558Decreased fetal movement1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0001557HP:0001558Decreased fetal movement1GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001557HP:0001558Decreased fetal movement1GLDN CL E G H34203529514OMIM:617194Lethal congenital contracture syndrome 11.6
HP:0001557HP:0001558Decreased fetal movement1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0001557HP:0010519Increased fetal movement1GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0001557HP:0001558Decreased fetal movement1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0001557HP:0001558Decreased fetal movement1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001557HP:0001558Decreased fetal movement1GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040281 - Very frequent
HP:0001557HP:0001558Decreased fetal movement1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional4
HP:0001557HP:0001558Decreased fetal movement1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001557HP:0001558Decreased fetal movement1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0001557HP:0001558Decreased fetal movement1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001557HP:0001558Decreased fetal movement1IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional9
HP:0001557HP:0001558Decreased fetal movement1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001557HP:0001558Decreased fetal movement1IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunityHP:0040284 - Very rare
HP:0001557HP:0001558Decreased fetal movement1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0001557HP:0001558Decreased fetal movement1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0001557HP:0001558Decreased fetal movement1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0001557HP:0001558Decreased fetal movement1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001557HP:0001558Decreased fetal movement1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0001557HP:0001558Decreased fetal movement1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001557HP:0001558Decreased fetal movement1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0001557HP:0001558Decreased fetal movement1KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0001557HP:0001558Decreased fetal movement1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0001557HP:0001558Decreased fetal movement1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0001557HP:0001558Decreased fetal movement1KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 913
HP:0001557HP:0001558Decreased fetal movement1KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0001557HP:0001558Decreased fetal movement1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001557HP:0001558Decreased fetal movement1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001557HP:0001558Decreased fetal movement1LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0001557HP:0001558Decreased fetal movement1LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0001557HP:0001558Decreased fetal movement1LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0001557HP:0001558Decreased fetal movement1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0001557HP:0001558Decreased fetal movement1LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0001557HP:0001558Decreased fetal movement1LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0001557HP:0001558Decreased fetal movement1LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0001557HP:0001558Decreased fetal movement1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001557HP:0001558Decreased fetal movement1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0001557HP:0001558Decreased fetal movement1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001557HP:0001558Decreased fetal movement1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001557HP:0001558Decreased fetal movement1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0001557HP:0001558Decreased fetal movement1MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0001557HP:0001558Decreased fetal movement1MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0001557HP:0001558Decreased fetal movement1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0001557HP:0001558Decreased fetal movement1MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequence72
HP:0001557HP:0001558Decreased fetal movement1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0001557HP:0001558Decreased fetal movement1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0001557HP:0001558Decreased fetal movement1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0001557HP:0001558Decreased fetal movement1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001557HP:0001558Decreased fetal movement1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0001557HP:0001558Decreased fetal movement1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0001557HP:0001558Decreased fetal movement1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0001557HP:0001558Decreased fetal movement1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001557HP:0001558Decreased fetal movement1MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0001557HP:0001558Decreased fetal movement1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0001557HP:0001558Decreased fetal movement1MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequence
HP:0001557HP:0001558Decreased fetal movement1MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001557HP:0001558Decreased fetal movement1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0001557HP:0001558Decreased fetal movement1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001557HP:0001558Decreased fetal movement1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001557HP:0001558Decreased fetal movement1NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent
HP:0001557HP:0001558Decreased fetal movement1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0001557HP:0001558Decreased fetal movement1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0001557HP:0001558Decreased fetal movement1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0001557HP:0001558Decreased fetal movement1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0001557HP:0001558Decreased fetal movement1NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0001557HP:0001558Decreased fetal movement1NECAP1 CL E G H2597724539OMIM:615833Epileptic encephalopathy, early infantile, 21.1
HP:0001557HP:0001558Decreased fetal movement1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0001557HP:0001558Decreased fetal movement1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0001557HP:0010519Increased fetal movement1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001557HP:0001558Decreased fetal movement1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunctionHP:0040284 - Very rare
HP:0001557HP:0001558Decreased fetal movement1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001557HP:0001558Decreased fetal movement1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001557HP:0001558Decreased fetal movement1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0001557HP:0001558Decreased fetal movement1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0001557HP:0001558Decreased fetal movement1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0001557HP:0001558Decreased fetal movement1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0001557HP:0001558Decreased fetal movement1NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequence
HP:0001557HP:0001558Decreased fetal movement1NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0001557HP:0001558Decreased fetal movement1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001557HP:0001558Decreased fetal movement1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0001557HP:0001558Decreased fetal movement1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0001557HP:0001558Decreased fetal movement1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0001557HP:0001558Decreased fetal movement1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001557HP:0001558Decreased fetal movement1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0001557HP:0001558Decreased fetal movement1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001557HP:0001558Decreased fetal movement1PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0001557HP:0001558Decreased fetal movement1PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0001557HP:0001558Decreased fetal movement1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0001557HP:0001558Decreased fetal movement1PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040283 - Occasional86
HP:0001557HP:0001558Decreased fetal movement1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0001557HP:0001558Decreased fetal movement1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001557HP:0001558Decreased fetal movement1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001557HP:0001558Decreased fetal movement1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001557HP:0001558Decreased fetal movement1PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional7
HP:0001557HP:0001558Decreased fetal movement1PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent7
HP:0001557HP:0001558Decreased fetal movement1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001557HP:0001558Decreased fetal movement1PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0001557HP:0001558Decreased fetal movement1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0001557HP:0001558Decreased fetal movement1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0001557HP:0001558Decreased fetal movement1RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequence73
HP:0001557HP:0001558Decreased fetal movement1RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0001557HP:0001558Decreased fetal movement1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0001557HP:0001558Decreased fetal movement1RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040283 - Occasional572
HP:0001557HP:0001558Decreased fetal movement1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0001557HP:0001558Decreased fetal movement1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0001557HP:0001558Decreased fetal movement1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0001557HP:0001558Decreased fetal movement1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0001557HP:0001558Decreased fetal movement1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001557HP:0001558Decreased fetal movement1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0001557HP:0001558Decreased fetal movement1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0001557HP:0001558Decreased fetal movement1SHQ1 CL E G H5516425543OMIM:619922
HP:0001557HP:0001558Decreased fetal movement1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0001557HP:0001558Decreased fetal movement1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0001557HP:0001558Decreased fetal movement1SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequence2
HP:0001557HP:0001558Decreased fetal movement1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001557HP:0001558Decreased fetal movement1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001557HP:0001558Decreased fetal movement1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0001557HP:0001558Decreased fetal movement1SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040283 - Occasional36
HP:0001557HP:0001558Decreased fetal movement1SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0001557HP:0001558Decreased fetal movement1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional55
HP:0001557HP:0001558Decreased fetal movement1SLC3A1 CL E G H651911025ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent55
HP:0001557HP:0001558Decreased fetal movement1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0001557HP:0001558Decreased fetal movement1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0001557HP:0001558Decreased fetal movement1SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0001557HP:0001558Decreased fetal movement1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001557HP:0001558Decreased fetal movement1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001557HP:0001558Decreased fetal movement1SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent37
HP:0001557HP:0001558Decreased fetal movement1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0001557HP:0001558Decreased fetal movement1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0001557HP:0001558Decreased fetal movement1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0001557HP:0001558Decreased fetal movement1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001557HP:0001558Decreased fetal movement1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001557HP:0001558Decreased fetal movement1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0001557HP:0001558Decreased fetal movement1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001557HP:0001558Decreased fetal movement1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0001557HP:0001558Decreased fetal movement1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0001557HP:0001558Decreased fetal movement1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0001557HP:0001558Decreased fetal movement1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0001557HP:0001558Decreased fetal movement1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0001557HP:0001558Decreased fetal movement1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0001557HP:0001558Decreased fetal movement1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0001557HP:0001558Decreased fetal movement1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001557HP:0001558Decreased fetal movement1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0001557HP:0001558Decreased fetal movement1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0001557HP:0001558Decreased fetal movement1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0001557HP:0001558Decreased fetal movement1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0001557HP:0001558Decreased fetal movement1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0001557HP:0001558Decreased fetal movement1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0001557HP:0001558Decreased fetal movement1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0001557HP:0001558Decreased fetal movement1TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9.2
HP:0001557HP:0001558Decreased fetal movement1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0001557HP:0001558Decreased fetal movement1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasiaHP:0040283 - Occasional214
HP:0001557HP:0001558Decreased fetal movement1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0001557HP:0001558Decreased fetal movement1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0001557HP:0001558Decreased fetal movement1TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequence106
HP:0001557HP:0001558Decreased fetal movement1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0001557HP:0001558Decreased fetal movement1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001557HP:0001558Decreased fetal movement1UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0001557HP:0001558Decreased fetal movement1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001557HP:0001558Decreased fetal movement1VAMP1 CL E G H684312642OMIM:618323Myasthenic syndrome, congenital, 25, presynaptic.2
HP:0001557HP:0001558Decreased fetal movement1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0001557HP:0001558Decreased fetal movement1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0001557HP:0001558Decreased fetal movement1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.224
HP:0001557HP:0001558Decreased fetal movement1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0001557HP:0001558Decreased fetal movement1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001557HP:0001558Decreased fetal movement1ZBTB42 CL E G H10012892732550OMIM:616248Lethal congenital contracture syndrome 6.1
HP:0001557HP:0001558Decreased fetal movement1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0001557HP:0001558Decreased fetal movement1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0001557HP:0001558Decreased fetal movement1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0001557HP:0001558Decreased fetal movement1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0001557HP:0001989Fetal akinesia sequence2ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0001557HP:0001989Fetal akinesia sequence2ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0001557HP:0001989Fetal akinesia sequence2CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0001557HP:0001989Fetal akinesia sequence2CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0001557HP:0001989Fetal akinesia sequence2CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0001557HP:0001989Fetal akinesia sequence2CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0001557HP:0001989Fetal akinesia sequence2CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001557HP:0001989Fetal akinesia sequence2DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent91
HP:0001557HP:0001989Fetal akinesia sequence2DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0001557HP:0001989Fetal akinesia sequence2DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0001557HP:0001989Fetal akinesia sequence2GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0001557HP:0001989Fetal akinesia sequence2GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001557HP:0001989Fetal akinesia sequence2KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0001557HP:0001989Fetal akinesia sequence2KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0001557HP:0001989Fetal akinesia sequence2KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0001557HP:0001989Fetal akinesia sequence2KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0001557HP:0001989Fetal akinesia sequence2KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0001557HP:0001989Fetal akinesia sequence2LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0001557HP:0001989Fetal akinesia sequence2MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndromeHP:0040284 - Very rare63
HP:0001557HP:0001989Fetal akinesia sequence2MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0001557HP:0001989Fetal akinesia sequence2MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent72
HP:0001557HP:0001989Fetal akinesia sequence2MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0001557HP:0001989Fetal akinesia sequence2MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001557HP:0001989Fetal akinesia sequence2MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0001557HP:0001989Fetal akinesia sequence2NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0001557HP:0001989Fetal akinesia sequence2NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0001557HP:0001989Fetal akinesia sequence2NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0001557HP:0001989Fetal akinesia sequence2PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001557HP:0001989Fetal akinesia sequence2RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent73
HP:0001557HP:0001989Fetal akinesia sequence2RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0001557HP:0001989Fetal akinesia sequence2RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040284 - Very rare1200
HP:0001557HP:0001989Fetal akinesia sequence2SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent2
HP:0001557HP:0001989Fetal akinesia sequence2TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0001557HP:0001989Fetal akinesia sequence2TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0001557HP:0001989Fetal akinesia sequence2TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasiaHP:0040283 - Occasional214
HP:0001557HP:0001989Fetal akinesia sequence2TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent106
HP:0001557HP:0001989Fetal akinesia sequence2ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19


Genes (234) :AARS1 ACTA1 ACTL6B ADGRG6 AGRN ALDH7A1 ALG14 ALG8 ALG9 AP3B2 ARV1 ASCC1 ASCL1 ATP1A2 ATP1A3 ATP6V1A B3GLCT BICD2 BIN1 BRD4 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 GLRB GMPPB GNB2 GPKOW GRIN2D H19 H4C3 HACD1 HCN1 HDAC8 HERC2 HSPG2 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 NALCN NDN NEB NECAP1 NEK9 NELFA NEXMIF NFASC NIPBL NPAP1 NSD1 NSD2 NTRK2 NUP188 NUP88 NUS1 OCA2 ODC1 PARS2 PAX7 PEX19 PEX3 PHGDH PHOX2B PIGG PIGS PLOD1 PLPBP POLR2A PPM1B PPP3CA PREPL PRUNE1 PSAT1 PTRH2 PWAR1 PWRN1 RAD21 RAI1 RAPSN RET RIPK4 RYR1 SCN3A SCN8A SCYL2 SELENON SHQ1 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A26 SLC38A3 SLC3A1 SLC5A7 SMC1A SMC3 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 (171) :ORPHA:442835 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:255310 OMIM:161800 ORPHA:171430 ORPHA:97240 OMIM:616503 ORPHA:98914 OMIM:266100 ORPHA:3006 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:199 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:614619 OMIM:615351 OMIM:619503 ORPHA:2570 ORPHA:231144 OMIM:619758 OMIM:176270 ORPHA:800 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 ORPHA:2053 OMIM:618414 OMIM:254940 OMIM:618198 OMIM:618975 OMIM:300855 OMIM:619717 OMIM:619334 OMIM:256030 OMIM:615833 OMIM:617022 OMIM:300912 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.