Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
..Starting node
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Neonatal hypotonia (HP:0001319)help
Term ID: 1319
Name: Neonatal hypotonia
Synonym: Congenital hypotonia; Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset
Definition: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Comments:
Reference: HP:0001319
Genes and Diseases:
 
       Child Nodes:
........expandSevere neonatal hypotonia in males (HP:0006830) help
........expandGeneralized neonatal hypotonia (HP:0008935) help

 Sister Nodes: 
..expandAppendicular hypotonia (HP:0012389) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandGeneralized hypotonia (HP:0001290) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandMuscular hypotonia of the trunk (HP:0008936) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001319HP:0001319Neonatal hypotonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001319HP:0001319Neonatal hypotonia0ACTA1 CL E G H5897240ORPHA1392129102610
HP:0001319HP:0001319Neonatal hypotonia0ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001319HP:0001319Neonatal hypotonia0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0001319HP:0001319Neonatal hypotonia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001319HP:0001319Neonatal hypotonia0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM119632456613666
HP:0001319HP:0001319Neonatal hypotonia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001319HP:0001319Neonatal hypotonia0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001319HP:0001319Neonatal hypotonia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001319HP:0001319Neonatal hypotonia0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001319HP:0001319Neonatal hypotonia0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001319HP:0001319Neonatal hypotonia0ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001319HP:0001319Neonatal hypotonia0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001319HP:0001319Neonatal hypotonia0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM19481097164757
HP:0001319HP:0001319Neonatal hypotonia0CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0001319HP:0001319Neonatal hypotonia0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0001319HP:0001319Neonatal hypotonia0CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16128033616735
HP:0001319HP:0001319Neonatal hypotonia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001319HP:0001319Neonatal hypotonia0CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001319HP:0001319Neonatal hypotonia0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0001319HP:0001319Neonatal hypotonia0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0001319HP:0001319Neonatal hypotonia0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0001319HP:0001319Neonatal hypotonia0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0001319HP:0001319Neonatal hypotonia0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0001319HP:0001319Neonatal hypotonia0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0001319HP:0001319Neonatal hypotonia0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0001319HP:0001319Neonatal hypotonia0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001319HP:0001319Neonatal hypotonia0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001319HP:0001319Neonatal hypotonia0COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA119442188120320
HP:0001319HP:0001319Neonatal hypotonia0COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA114702211120220
HP:0001319HP:0001319Neonatal hypotonia0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0001319HP:0001319Neonatal hypotonia0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0001319HP:0001319Neonatal hypotonia0COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA116442212120240
HP:0001319HP:0001319Neonatal hypotonia0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0001319HP:0001319Neonatal hypotonia0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0001319HP:0001319Neonatal hypotonia0COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA124142213120250
HP:0001319HP:0001319Neonatal hypotonia0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0001319HP:0001319Neonatal hypotonia0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0001319HP:0001319Neonatal hypotonia0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0001319HP:0001319Neonatal hypotonia0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0001319HP:0001319Neonatal hypotonia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0001319HP:0001319Neonatal hypotonia0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001319HP:0001319Neonatal hypotonia0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0001319HP:0001319Neonatal hypotonia0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0001319HP:0001319Neonatal hypotonia0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM14933192602959
HP:0001319HP:0001319Neonatal hypotonia0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001319HP:0001319Neonatal hypotonia0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM143126922615667
HP:0001319HP:0001319Neonatal hypotonia0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM16883688136350
HP:0001319HP:0001319Neonatal hypotonia0FKRP CL E G H79147370980ORPHA178717997606596
HP:0001319HP:0001319Neonatal hypotonia0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0001319HP:0001319Neonatal hypotonia0FKTN CL E G H2218370980ORPHA17833622607440
HP:0001319HP:0001319Neonatal hypotonia0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM125383754300017
HP:0001319HP:0001319Neonatal hypotonia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0001319HP:0001319Neonatal hypotonia0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM129130778614998
HP:0001319HP:0001319Neonatal hypotonia0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM18124247610516
HP:0001319HP:0001319Neonatal hypotonia0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1100329670607840
HP:0001319HP:0001319Neonatal hypotonia0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1634574138246
HP:0001319HP:0001319Neonatal hypotonia0HADH CL E G H303371212ORPHA11684799601609
HP:0001319HP:0001319Neonatal hypotonia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0001319HP:0001319Neonatal hypotonia0HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001319HP:0001319Neonatal hypotonia0HNF1A CL E G H6927324575ORPHA172511621142410
HP:0001319HP:0001319Neonatal hypotonia0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14485024600281
HP:0001319HP:0001319Neonatal hypotonia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0001319HP:0001319Neonatal hypotonia0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0001319HP:0001319Neonatal hypotonia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0001319HP:0001319Neonatal hypotonia0ISPD CL E G H729920370980ORPHA164737276614631
HP:0001319HP:0001319Neonatal hypotonia0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM17186143600536
HP:0001319HP:0001319Neonatal hypotonia0KAT6A CL E G H7994457193ORPHA154513013601408
HP:0001319HP:0001319Neonatal hypotonia0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM154513013601408
HP:0001319HP:0001319Neonatal hypotonia0KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0001319HP:0001319Neonatal hypotonia0LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0001319HP:0001319Neonatal hypotonia0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM112421365613311
HP:0001319HP:0001319Neonatal hypotonia0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11716783159460
HP:0001319HP:0001319Neonatal hypotonia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0001319HP:0001319Neonatal hypotonia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0001319HP:0001319Neonatal hypotonia0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1123611957300188
HP:0001319HP:0001319Neonatal hypotonia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001319HP:0001319Neonatal hypotonia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0001319HP:0001319Neonatal hypotonia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001319HP:0001319Neonatal hypotonia0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM17014048609204
HP:0001319HP:0001319Neonatal hypotonia0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0001319HP:0001319Neonatal hypotonia0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0001319HP:0001319Neonatal hypotonia0NADK2 CL E G H133686431361ORPHA116426404615787
HP:0001319HP:0001319Neonatal hypotonia0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM116426404615787
HP:0001319HP:0001319Neonatal hypotonia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0001319HP:0001319Neonatal hypotonia0NEB CL E G H4703171436ORPHA164447720161650
HP:0001319HP:0001319Neonatal hypotonia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001319HP:0001319Neonatal hypotonia0NEXMIF CL E G H34053385277ORPHA181729433300524
HP:0001319HP:0001319Neonatal hypotonia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0001319HP:0001319Neonatal hypotonia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0001319HP:0001319Neonatal hypotonia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1139014234606681
HP:0001319HP:0001319Neonatal hypotonia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001319HP:0001319Neonatal hypotonia0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001319HP:0001319Neonatal hypotonia0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0001319HP:0001319Neonatal hypotonia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0001319HP:0001319Neonatal hypotonia0PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM114123041610564
HP:0001319HP:0001319Neonatal hypotonia0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM112058850602136
HP:0001319HP:0001319Neonatal hypotonia0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM16548851602859
HP:0001319HP:0001319Neonatal hypotonia0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM13468857603360
HP:0001319HP:0001319Neonatal hypotonia0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0001319HP:0001319Neonatal hypotonia0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM143122965608666
HP:0001319HP:0001319Neonatal hypotonia0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM110858859601498
HP:0001319HP:0001319Neonatal hypotonia0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM126125712611655
HP:0001319HP:0001319Neonatal hypotonia0PLOD1 CL E G H53511900ORPHA17949081153454
HP:0001319HP:0001319Neonatal hypotonia0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM124426267615247
HP:0001319HP:0001319Neonatal hypotonia0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM124426267615247
HP:0001319HP:0001319Neonatal hypotonia0POMT1 CL E G H10585370980ORPHA17379202607423
HP:0001319HP:0001319Neonatal hypotonia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001319HP:0001319Neonatal hypotonia0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13939701600473
HP:0001319HP:0001319Neonatal hypotonia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0001319HP:0001319Neonatal hypotonia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0001319HP:0001319Neonatal hypotonia0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM14339863601592
HP:0001319HP:0001319Neonatal hypotonia0RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0001319HP:0001319Neonatal hypotonia0RYR1 CL E G H6261117000117000117000OMIM1506210483180901
HP:0001319HP:0001319Neonatal hypotonia0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0001319HP:0001319Neonatal hypotonia0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0001319HP:0001319Neonatal hypotonia0SCN4A CL E G H6329684ORPHA1139110591603967
HP:0001319HP:0001319Neonatal hypotonia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1218610680600857
HP:0001319HP:0001319Neonatal hypotonia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM16033867612848
HP:0001319HP:0001319Neonatal hypotonia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM160710683602690
HP:0001319HP:0001319Neonatal hypotonia0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0001319HP:0001319Neonatal hypotonia0SH2B1 CL E G H25970261222ORPHA120430417608937
HP:0001319HP:0001319Neonatal hypotonia0SHANK3 CL E G H8535848652ORPHA177614294606230
HP:0001319HP:0001319Neonatal hypotonia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0001319HP:0001319Neonatal hypotonia0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM191110914604878
HP:0001319HP:0001319Neonatal hypotonia0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM135510923300095
HP:0001319HP:0001319Neonatal hypotonia0SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM147819954609302
HP:0001319HP:0001319Neonatal hypotonia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM190311055300036
HP:0001319HP:0001319Neonatal hypotonia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0001319HP:0001319Neonatal hypotonia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0001319HP:0001319Neonatal hypotonia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0001319HP:0001319Neonatal hypotonia0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0001319HP:0001319Neonatal hypotonia0SUMF1 CL E G H285362585ORPHA156420376607939
HP:0001319HP:0001319Neonatal hypotonia0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM156420376607939
HP:0001319HP:0001319Neonatal hypotonia0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001319HP:0001319Neonatal hypotonia0TBR1 CL E G H107161617ORPHA115911590604616
HP:0001319HP:0001319Neonatal hypotonia0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0001319HP:0001319Neonatal hypotonia0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0001319HP:0001319Neonatal hypotonia0TNNT1 CL E G H713898902ORPHA129811948191041
HP:0001319HP:0001319Neonatal hypotonia0TPM2 CL E G H7169171436ORPHA128012011190990
HP:0001319HP:0001319Neonatal hypotonia0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0001319HP:0001319Neonatal hypotonia0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0001319HP:0001319Neonatal hypotonia0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM130212367604723
HP:0001319HP:0001319Neonatal hypotonia0TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM124212410605742
HP:0001319HP:0001319Neonatal hypotonia0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM127312420602389
HP:0001319HP:0001319Neonatal hypotonia0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM121316297606673
HP:0001319HP:0001319Neonatal hypotonia0UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14921237614461
HP:0001319HP:0001319Neonatal hypotonia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM137882183607817
HP:0001319HP:0001319Neonatal hypotonia0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0001319HP:0008935Generalized neonatal hypotonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0001319HP:0008935Generalized neonatal hypotonia1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001319HP:0008935Generalized neonatal hypotonia1ACTA1 CL E G H5897240ORPHA1392129102610
HP:0001319HP:0008935Generalized neonatal hypotonia1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0001319HP:0008935Generalized neonatal hypotonia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001319HP:0008935Generalized neonatal hypotonia1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM119632456613666
HP:0001319HP:0008935Generalized neonatal hypotonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1300572607245
HP:0001319HP:0008935Generalized neonatal hypotonia1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001319HP:0008935Generalized neonatal hypotonia1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001319HP:0008935Generalized neonatal hypotonia1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM167918060300382
HP:0001319HP:0008935Generalized neonatal hypotonia1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001319HP:0008935Generalized neonatal hypotonia1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001319HP:0008935Generalized neonatal hypotonia1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001319HP:0008935Generalized neonatal hypotonia1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM19481097164757
HP:0001319HP:0008935Generalized neonatal hypotonia1CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0001319HP:0008935Generalized neonatal hypotonia1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0001319HP:0008935Generalized neonatal hypotonia1CCDC174 CL E G H51244616816Hypotonia, infantile, with psychomotor retardation616816C4225196OMIM16128033616735
HP:0001319HP:0008935Generalized neonatal hypotonia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001319HP:0008935Generalized neonatal hypotonia1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001319HP:0008935Generalized neonatal hypotonia1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM14191938612395
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13571961100710
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM13571961100710
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM14081965100720
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM14081965100720
HP:0001319HP:0008935Generalized neonatal hypotonia1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM17951966100725
HP:0001319HP:0008935Generalized neonatal hypotonia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001319HP:0008935Generalized neonatal hypotonia1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001319HP:0008935Generalized neonatal hypotonia1COL12A1 CL E G H1303610Alopecia macular degeneration growth retardationORPHA119442188120320
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A1 CL E G H1291610Alopecia macular degeneration growth retardationORPHA114702211120220
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A2 CL E G H1292610Alopecia macular degeneration growth retardationORPHA116442212120240
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A3 CL E G H1293610Alopecia macular degeneration growth retardationORPHA124142213120250
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0001319HP:0008935Generalized neonatal hypotonia1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0001319HP:0008935Generalized neonatal hypotonia1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM120919693612898
HP:0001319HP:0008935Generalized neonatal hypotonia1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0001319HP:0008935Generalized neonatal hypotonia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0001319HP:0008935Generalized neonatal hypotonia1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001319HP:0008935Generalized neonatal hypotonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM125329419612799
HP:0001319HP:0008935Generalized neonatal hypotonia1EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0001319HP:0008935Generalized neonatal hypotonia1EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM14933192602959
HP:0001319HP:0008935Generalized neonatal hypotonia1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001319HP:0008935Generalized neonatal hypotonia1ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM143126922615667
HP:0001319HP:0008935Generalized neonatal hypotonia1FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM16883688136350
HP:0001319HP:0008935Generalized neonatal hypotonia1FKRP CL E G H79147370980ORPHA178717997606596
HP:0001319HP:0008935Generalized neonatal hypotonia1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0001319HP:0008935Generalized neonatal hypotonia1FKTN CL E G H2218370980ORPHA17833622607440
HP:0001319HP:0008935Generalized neonatal hypotonia1FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM125383754300017
HP:0001319HP:0008935Generalized neonatal hypotonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0001319HP:0008935Generalized neonatal hypotonia1GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM129130778614998
HP:0001319HP:0008935Generalized neonatal hypotonia1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM18124247610516
HP:0001319HP:0008935Generalized neonatal hypotonia1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1100329670607840
HP:0001319HP:0008935Generalized neonatal hypotonia1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1634574138246
HP:0001319HP:0008935Generalized neonatal hypotonia1HADH CL E G H303371212ORPHA11684799601609
HP:0001319HP:0008935Generalized neonatal hypotonia1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0001319HP:0008935Generalized neonatal hypotonia1HIST1H1E CL E G H3008617537RAHMAN SYNDROME617537C4479637OMIM14718142220
HP:0001319HP:0008935Generalized neonatal hypotonia1HNF1A CL E G H6927324575ORPHA172511621142410
HP:0001319HP:0008935Generalized neonatal hypotonia1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14485024600281
HP:0001319HP:0008935Generalized neonatal hypotonia1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0001319HP:0008935Generalized neonatal hypotonia1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM112718550609382
HP:0001319HP:0008935Generalized neonatal hypotonia1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0001319HP:0008935Generalized neonatal hypotonia1ISPD CL E G H729920370980ORPHA164737276614631
HP:0001319HP:0008935Generalized neonatal hypotonia1ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM17186143600536
HP:0001319HP:0008935Generalized neonatal hypotonia1KAT6A CL E G H7994457193ORPHA154513013601408
HP:0001319HP:0008935Generalized neonatal hypotonia1KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM154513013601408
HP:0001319HP:0008935Generalized neonatal hypotonia1KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0001319HP:0008935Generalized neonatal hypotonia1LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0001319HP:0008935Generalized neonatal hypotonia1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM112421365613311
HP:0001319HP:0008935Generalized neonatal hypotonia1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11716783159460
HP:0001319HP:0008935Generalized neonatal hypotonia1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0001319HP:0008935Generalized neonatal hypotonia1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM16206814605283
HP:0001319HP:0008935Generalized neonatal hypotonia1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1123611957300188
HP:0001319HP:0008935Generalized neonatal hypotonia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001319HP:0008935Generalized neonatal hypotonia1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0001319HP:0008935Generalized neonatal hypotonia1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001319HP:0008935Generalized neonatal hypotonia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM17014048609204
HP:0001319HP:0008935Generalized neonatal hypotonia1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14967525601296
HP:0001319HP:0008935Generalized neonatal hypotonia1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0001319HP:0008935Generalized neonatal hypotonia1NADK2 CL E G H133686431361ORPHA116426404615787
HP:0001319HP:0008935Generalized neonatal hypotonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM116426404615787
HP:0001319HP:0008935Generalized neonatal hypotonia1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0001319HP:0008935Generalized neonatal hypotonia1NEB CL E G H4703171436ORPHA164447720161650
HP:0001319HP:0008935Generalized neonatal hypotonia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001319HP:0008935Generalized neonatal hypotonia1NEXMIF CL E G H34053385277ORPHA181729433300524
HP:0001319HP:0008935Generalized neonatal hypotonia1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM12047871300084
HP:0001319HP:0008935Generalized neonatal hypotonia1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0001319HP:0008935Generalized neonatal hypotonia1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1139014234606681
HP:0001319HP:0008935Generalized neonatal hypotonia1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001319HP:0008935Generalized neonatal hypotonia1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001319HP:0008935Generalized neonatal hypotonia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0001319HP:0008935Generalized neonatal hypotonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0001319HP:0008935Generalized neonatal hypotonia1PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM114123041610564
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM112058850602136
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM16548851602859
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM13468857603360
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM143122965608666
HP:0001319HP:0008935Generalized neonatal hypotonia1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM110858859601498
HP:0001319HP:0008935Generalized neonatal hypotonia1PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM126125712611655
HP:0001319HP:0008935Generalized neonatal hypotonia1PLOD1 CL E G H53511900ORPHA17949081153454
HP:0001319HP:0008935Generalized neonatal hypotonia1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM124426267615247
HP:0001319HP:0008935Generalized neonatal hypotonia1POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM124426267615247
HP:0001319HP:0008935Generalized neonatal hypotonia1POMT1 CL E G H10585370980ORPHA17379202607423
HP:0001319HP:0008935Generalized neonatal hypotonia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001319HP:0008935Generalized neonatal hypotonia1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM13939701600473
HP:0001319HP:0008935Generalized neonatal hypotonia1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0001319HP:0008935Generalized neonatal hypotonia1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0001319HP:0008935Generalized neonatal hypotonia1RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM14339863601592
HP:0001319HP:0008935Generalized neonatal hypotonia1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0001319HP:0008935Generalized neonatal hypotonia1RYR1 CL E G H6261117000117000117000OMIM1506210483180901
HP:0001319HP:0008935Generalized neonatal hypotonia1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0001319HP:0008935Generalized neonatal hypotonia1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0001319HP:0008935Generalized neonatal hypotonia1SCN4A CL E G H6329684ORPHA1139110591603967
HP:0001319HP:0008935Generalized neonatal hypotonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1218610680600857
HP:0001319HP:0008935Generalized neonatal hypotonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM16033867612848
HP:0001319HP:0008935Generalized neonatal hypotonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM160710683602690
HP:0001319HP:0008935Generalized neonatal hypotonia1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0001319HP:0008935Generalized neonatal hypotonia1SH2B1 CL E G H25970261222ORPHA120430417608937
HP:0001319HP:0008935Generalized neonatal hypotonia1SHANK3 CL E G H8535848652ORPHA177614294606230
HP:0001319HP:0008935Generalized neonatal hypotonia1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0001319HP:0008935Generalized neonatal hypotonia1SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM191110914604878
HP:0001319HP:0008935Generalized neonatal hypotonia1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM135510923300095
HP:0001319HP:0008935Generalized neonatal hypotonia1SLC25A22 CL E G H79751609304Early myoclonic encephalopathy609304C0270855OMIM147819954609302
HP:0001319HP:0008935Generalized neonatal hypotonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM190311055300036
HP:0001319HP:0008935Generalized neonatal hypotonia1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0001319HP:0008935Generalized neonatal hypotonia1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0001319HP:0008935Generalized neonatal hypotonia1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0001319HP:0008935Generalized neonatal hypotonia1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0001319HP:0008935Generalized neonatal hypotonia1SUMF1 CL E G H285362585ORPHA156420376607939
HP:0001319HP:0008935Generalized neonatal hypotonia1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM156420376607939
HP:0001319HP:0008935Generalized neonatal hypotonia1TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM18711540602955
HP:0001319HP:0008935Generalized neonatal hypotonia1TBR1 CL E G H107161617ORPHA115911590604616
HP:0001319HP:0008935Generalized neonatal hypotonia1TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0001319HP:0008935Generalized neonatal hypotonia1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM16518188614123
HP:0001319HP:0008935Generalized neonatal hypotonia1TNNT1 CL E G H713898902ORPHA129811948191041
HP:0001319HP:0008935Generalized neonatal hypotonia1TPM2 CL E G H7169171436ORPHA128012011190990
HP:0001319HP:0008935Generalized neonatal hypotonia1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0001319HP:0008935Generalized neonatal hypotonia1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0001319HP:0008935Generalized neonatal hypotonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM130212367604723
HP:0001319HP:0008935Generalized neonatal hypotonia1TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM124212410605742
HP:0001319HP:0008935Generalized neonatal hypotonia1TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM127312420602389
HP:0001319HP:0008935Generalized neonatal hypotonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM121316297606673
HP:0001319HP:0008935Generalized neonatal hypotonia1UQCC2 CL E G H84300615824Mitochondrial complex III deficiency, nuclear type 7615824C4014408OMIM14921237614461
HP:0001319HP:0008935Generalized neonatal hypotonia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM137882183607817
HP:0001319HP:0008935Generalized neonatal hypotonia1VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001319HP:0001319Neonatal hypotonia0ARID1B CL E G H57492251056ORPHA0120618040614556
HP:0001319HP:0001319Neonatal hypotonia0BCS1L CL E G H617603358GRACILE syndrome603358C1864002OMIM03341020603647
HP:0001319HP:0001319Neonatal hypotonia0CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM07061497300172
HP:0001319HP:0001319Neonatal hypotonia0DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0001319HP:0001319Neonatal hypotonia0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA03784174601656
HP:0001319HP:0001319Neonatal hypotonia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA032836482156225
HP:0001319HP:0001319Neonatal hypotonia0LMNA CL E G H4000264ORPHA016226636150330
HP:0001319HP:0001319Neonatal hypotonia0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001319HP:0001319Neonatal hypotonia0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM075526270613629
HP:0001319HP:0001319Neonatal hypotonia0POMT1 CL E G H1058586812ORPHA07379202607423
HP:0001319HP:0001319Neonatal hypotonia0PRDM5 CL E G H1110790354ORPHA03479349614161
HP:0001319HP:0001319Neonatal hypotonia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM044326162617220
HP:0001319HP:0001319Neonatal hypotonia0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM0139110591603967
HP:0001319HP:0001319Neonatal hypotonia0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM023922082300913
HP:0001319HP:0001319Neonatal hypotonia0ZNF469 CL E G H8462790354ORPHA0241523216612078
HP:0001319HP:0008935Generalized neonatal hypotonia1ARID1B CL E G H57492251056ORPHA0120618040614556
HP:0001319HP:0008935Generalized neonatal hypotonia1BCS1L CL E G H617603358GRACILE syndrome603358C1864002OMIM03341020603647
HP:0001319HP:0008935Generalized neonatal hypotonia1CASK CL E G H8573300422FG syndrome 4300422CN033933OMIM07061497300172
HP:0001319HP:0008935Generalized neonatal hypotonia1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0001319HP:0008935Generalized neonatal hypotonia1GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA03784174601656
HP:0001319HP:0008935Generalized neonatal hypotonia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA032836482156225
HP:0001319HP:0008935Generalized neonatal hypotonia1LMNA CL E G H4000264ORPHA016226636150330
HP:0001319HP:0008935Generalized neonatal hypotonia1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001319HP:0008935Generalized neonatal hypotonia1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM075526270613629
HP:0001319HP:0008935Generalized neonatal hypotonia1POMT1 CL E G H1058586812ORPHA07379202607423
HP:0001319HP:0008935Generalized neonatal hypotonia1PRDM5 CL E G H1110790354ORPHA03479349614161
HP:0001319HP:0008935Generalized neonatal hypotonia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM044326162617220
HP:0001319HP:0008935Generalized neonatal hypotonia1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM0139110591603967
HP:0001319HP:0008935Generalized neonatal hypotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM023922082300913
HP:0001319HP:0008935Generalized neonatal hypotonia1ZNF469 CL E G H8462790354ORPHA0241523216612078


Genes (146) :ACOX1 ACTA1 ALG11 AP4B1 AP4E1 AP4M1 ARID1B ARX ATP2B3 ATXN7 BCS1L BIN1 BPTF BRAF CAMTA1 CASK CCDC174 CCDC88A CFL2 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLPB CNTN1 COG4 COL12A1 COL6A1 COL6A2 COL6A3 COQ4 CPT2 CRPPA DLAT DNAJC19 DST EARS2 EEF1A2 EGR2 ERCC6L2 FGFR1 FIG4 FKRP FKTN FLNA FOXG1 GATA6 GATAD2B GLYCTK GNPTAB GRIA4 HADH HERC2 HIST1H1E HNF1A HNF4A HSD17B4 IER3IP1 IPW ISPD ITGA7 KAT6A KLHL41 LAMA2 LMNA LMOD3 LYRM4 MAG MAGEL2 MED12 MEGF10 MKRN3 MKRN3-AS1 MRPS16 MUSK MYH7 NADK2 NDN NEB NEXMIF NONO NPAP1 NSD1 OCRL PCLO PDHX PDSS2 PEX1 PEX10 PEX12 PEX16 PEX2 PEX26 PEX3 PEX6 PGAP1 PIEZO2 PLOD1 POMK POMT1 PRDM5 PRPS1 PSMD12 PURA PWAR1 PWRN1 PYROXD1 RAPSN RYR1 SCN4A SDHA SDHAF1 SDHD SELENON SH2B1 SHANK3 SLC12A6 SLC16A2 SLC25A22 SLC6A8 SNORD115-1 SNORD116-1 SNRPN SOX10 SUMF1 TAF6 TBC1D24 TBR1 TGFB3 TMCO1 TNNT1 TPM2 TPM3 TRNE TRNT TSFM TUBA8 TUFM UPB1 UQCC2 VAC14 VMA21 VPS13B VPS53 ZNF469

Diseases (143) :264470 171436 97240 255310 161800 613661 614066 613744 612936 251056 300004 302500 94147 603358 255200 613707 314647 614756 300422 616816 617507 602541 608930 616313 616314 616321 616322 616324 616271 612540 610 158810 254090 616276 608836 370980 245348 66634 614653 614924 616409 616393 605253 615715 615465 606612 300321 613454 2255 615074 220120 252500 617864 71212 176270 617537 324575 263455 261515 614231 613204 457193 616268 258 264 615595 616680 615547 305450 614399 610498 616325 431361 616034 256030 85277 300967 117550 534 309000 608027 245349 614652 601539 614871 614877 614867 614873 614863 615802 617146 1900 615249 616094 86812 90354 301835 616158 617258 616326 178145 117000 255320 684 168300 252011 261222 48652 606232 218000 300523 609304 300352 609136 585 272200 617126 1617 615582 213980 98902 2596 610505 613180 610678 613161 615824 310440 216550 615851 314978 529962 263501 3472 614870 614859 614876 614866 614872 614882 614862 352596 254857
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.