| Metadata | |
|---|---|
| ID | DOID:0070652 |
| Name | Nil-Deshwan neurodevelopmental syndrome |
| Definition | A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/40494548/, https://pmc.ncbi.nlm.nih.gov/articles/PMC10645550/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621265 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |