| Metadata | |
|---|---|
| ID | DOID:0111603 |
| Name | distal arthrogryposis type 7 |
| Definition | A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. https://www.ncbi.nlm.nih.gov/pubmed/15282353 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DA7 [EXACT] Dutch-Kentucky syndrome [EXACT] Hecht syndrome [EXACT] Hecht-Beals syndrome [EXACT] mouth, inability to completely open, and short finger-flexor tendons [EXACT] trismus-pseudocamptodactyly syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |