| Metadata | |
|---|---|
| ID | DOID:0060953 |
| Name | ZTTK syndrome |
| Definition | A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/27545680/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Zhu-Tokita-Takenouchi-Kim syndrome [EXACT] ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |