Metadata | |
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ID | DOID:0060767 |
Name | autosomal dominant Robinow syndrome 3 |
Definition | A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/26924530 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
DRS3 [EXACT] |
Parent Relationships |
is_a Robinow syndrome |