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Metadata
ID DOID:0112190
Name distal arthrogryposis type 1C
Definition A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2.
https://pubmed.ncbi.nlm.nih.gov/32707087/
Xrefs

OMIM:619110

Synonyms

DA1C [EXACT]

Parent Relationships

is_a distal arthrogryposis type 1

is_a autosomal genetic disease

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