Metadata | |
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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 | |
Synonyms |
DA1C [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal inheritance |