Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ALG11 CL E G H | 440138 | 32456 | OMIM:613661 | Congenital disorder of glycosylation, type Ip | . | | | 41 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | AP4B1 CL E G H | 10717 | 572 | OMIM:614066 | Spastic paraplegia 47, autosomal recessive | . | | | 49 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | . | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 405 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 35 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616314 | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | . | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | . | | | 88 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | . | | | 139 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | COQ4 CL E G H | 51117 | 19693 | OMIM:616276 | Coenzyme Q10 deficiency, primary, 7 | . | | | 24 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040284 - Very rare | | | 25 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616409 | Epileptic encephalopathy, early infantile, 33 | . | | | 60 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | . | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300321 | Fg syndrome 2 | | | | 493 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | . | | | 177 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618328 | Epileptic encephalopathy, early infantile, 71 | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040281 - Very frequent | | | 161 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | . | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | . | | | 34 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040283 - Occasional | | | 411 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | . | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | . | | | 60 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040283 - Occasional | | | 231 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PDSS2 CL E G H | 57107 | 23041 | OMIM:614652 | Coenzyme Q10 deficiency, primary, 3 | . | | | 54 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | | | | 65 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | | | | 59 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | | | | 106 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614873 | Peroxisome biogenesis disorder 7B | . | | | 106 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | | | | 47 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | | | | 98 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040281 - Very frequent | | | 105 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 58 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | . | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040282 - Frequent | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | | | | 1200 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040284 - Very rare | | | 263 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | HP:0040283 - Occasional | | | 263 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040282 - Frequent | | | 263 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040281 - Very frequent | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC25A22 CL E G H | 79751 | 19954 | OMIM:609304 | Epileptic encephalopathy, early infantile, 3 | . | | | 166 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 37 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | | | | 9 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | | | | 271 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TUBA8 CL E G H | 51807 | 12410 | ORPHA:250972 | Polymicrogyria with optic nerve hypoplasia | HP:0040281 - Very frequent | | | 21 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | . | | | 55 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | UPB1 CL E G H | 51733 | 16297 | OMIM:613161 | Beta-Ureidopropionase deficiency | . | | | 44 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | HP:0040283 - Occasional | | | 10 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | . | | | 26 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040282 - Frequent | | | 20 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040282 - Frequent | | | 20 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0001319 | HP:0001319 | Neonatal hypotonia | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 397 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | . | | | 106 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040282 - Frequent | | | 271 | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040283 - Occasional | | | | | |
HP:0001319 | HP:0008935 | Generalized neonatal hypotonia | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |