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:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040282 - Frequent | | | 15 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ACADS CL E G H | 35 | 90 | ORPHA:26792 | Short chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 90 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040281 - Very frequent | | | 41 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040282 - Frequent | | | 78 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | HP:0040284 - Very rare | | | 13 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 118 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 405 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040281 - Very frequent | | | 79 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040282 - Frequent | | | 38 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040281 - Very frequent | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040282 - Frequent | | | 144 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 157 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | | | | 14 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040281 - Very frequent | | | 120 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GLYCTK CL E G H | 132158 | 24247 | ORPHA:941 | D-glyceric aciduria | HP:0040282 - Frequent | | | 6 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 34 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 36 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040282 - Frequent | | | 434 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040282 - Frequent | | | 30 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 145 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 136 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040281 - Very frequent | | | 93 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:293707 | Blepharophimosis-intellectual disability syndrome, MKB type | HP:0040282 - Frequent | | | 228 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 17 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040281 - Very frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040282 - Frequent | | | 36 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040282 - Frequent | | | 43 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 11 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 84 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 244 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 213 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 221 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040282 - Frequent | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | | | | 1200 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 126 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 427 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040281 - Very frequent | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040282 - Frequent | | | 19 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 50 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040281 - Very frequent | | | 60 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040282 - Frequent | | | 12 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040283 - Occasional | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040282 - Frequent | | | 278 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040282 - Frequent | | | 27 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040281 - Very frequent | | | 2 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 27 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040282 - Frequent | | | 64 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |