| Metadata | |
|---|---|
| ID | DOID:0070794 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070794 Copy |
| Name | Guillouet-Gordon syndrome |
| Definition | A syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects that has_material_basis_in homozygous or compound heterozygous mutation in the MED16 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/40081376/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012729 exactMatch MIM:621220 |
| Subsets |
DO_rare_slim |
| Synonyms |
GGNS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |