Severe muscular hypotonia

Symptom Information:

Symptom ID: HPO:0006829
Synonyms:
Hypotonia, severe [HPO:0006829]
Hypotonia, severe [OMIM:Hypotonia, severe]
Hypotonia, profound muscular (in some patients) [OMIM,du]
Quality:
Cross references:
OMIM: "Hypotonia, severe" [OMIM:Hypotonia, severe]
Is a (Direct Parents):
HPO         Muscular hypotonia
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)
                   Severe muscular hypotonia(HPO:0006829)
MedDRA:
Database Frequency: 29 / 7739
Resource:

All diseases associated with this symptom:

Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
DK1-CDG (Orphanet:91131)
Epileptic encephalopathy with global cerebral demyelination (Orphanet:353217)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
Leber congenital amaurosis 11 (OMIM:613837)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Muscle-eye-brain disease (Orphanet:588)
NEMALINE MYOPATHY 10 (OMIM:616165)
PEHO syndrome (Orphanet:2836)
PEHO-like syndrome (Orphanet:99807)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
X-linked centronuclear myopathy (Orphanet:596)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)