Congenital muscular dystrophy
cv_term_accession
KW-0912
canonical
uniprot_keyword
KW-0912
canonical
name
Congenital muscular dystrophy
uniprot
definition
The congenital muscular dystrophies (CMD) are a heterogeneous group of disorders characterized by hypotonia, muscle weakness, dystrophic changes on skeletal muscle biopsy, and joint contractures that present at birth or during the first 6 months of life. Intellectual disability with or without structural brain changes is an additional feature of several CMD syndromes.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords