| Metadata | |
|---|---|
| ID | DOID:0111581 |
| Name | C syndrome |
| Definition | A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/17847009 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715409005 |
| Subsets |
DO_rare_slim |
| Synonyms |
Opitz C trigonocephaly [EXACT] Opitz trigonocephaly C syndrome [EXACT] Opitz trigonocephaly syndrome [EXACT] OTCS [EXACT] trigonocephaly C syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |