Search Ontology:
Human Disease

Bethlem myopathy 2

Term ID
DOID:0061201
Synonyms
  • myopathic-type Ehlers-Danlos syndrome
Definition
A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. https://pubmed.ncbi.nlm.nih.gov/24334604/
References
Ontology
Human Disease   ( DOID:0061201 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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