| Metadata | |
|---|---|
| ID | DOID:0070415 |
| Name | brachycephaly, trichomegaly, and developmental delay |
| Definition | A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. https://pubmed.ncbi.nlm.nih.gov/28257692/ |
| Xrefs | |
| Synonyms |
BTDD [EXACT] Macinnes syndrome [EXACT] MCINS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |