Generalized hypotonia
Symptom Information:
Symptom ID: | HPO:0001290 | ||||||
Synonyms: |
|
||||||
Quality: | |||||||
Cross references: |
|
||||||
Is a (Direct Parents): |
|
||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Abnormality of muscle physiology(HPO:0011804) Abnormal muscle tone(HPO:0003808) Muscular hypotonia(HPO:0001252) Generalized hypotonia(HPO:0001290) MedDRA: |
||||||
Database Frequency: | 51 / 7739 | ||||||
Resource: |
All diseases associated with this symptom:
17p11.2 microduplication syndrome | (Orphanet:1713) |
Acrocallosal syndrome | (Orphanet:36) |
Adducted thumbs - arthrogryposis, Christian type | (Orphanet:2952) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | (OMIM:615490) |
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED | (OMIM:136570) |
CK syndrome | (Orphanet:251383) |
Combined oxidative phosphorylation defect type 13 | (Orphanet:319514) |
Congenital muscular dystrophy type 1B | (Orphanet:98893) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Craniofacial dyssynostosis | (Orphanet:1516) |
ETHANOLAMINOSIS | (OMIM:227150) |
Fetal Gaucher disease | (Orphanet:85212) |
Gaucher disease type 2 | (Orphanet:77260) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
Joubert syndrome 5 | (OMIM:610188) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LUJAN-FRYNS SYNDROME | (OMIM:309520) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leigh syndrome | (Orphanet:506) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
MEGDEL syndrome | (Orphanet:352328) |
MGAT2-CDG | (Orphanet:79329) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL | (OMIM:605809) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Monosomy 22q13 | (Orphanet:48652) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
NOONAN SYNDROME 6 | (OMIM:613224) |
OSTEOGENESIS IMPERFECTA, TYPE X | (OMIM:613848) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Prader-Willi syndrome | (Orphanet:739) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E1-beta deficiency | (Orphanet:255138) |
Radio-ulnar synostosis - intellectual deficit - hypotonia | (Orphanet:3270) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |