| Metadata | |
|---|---|
| ID | DOID:0070756 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070756 Copy |
| Name | neurodevelopmental disorder with variable motor and speech impairment |
| Definition | An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21. https://pubmed.ncbi.nlm.nih.gov/34020708/, https://pubmed.ncbi.nlm.nih.gov/29100085/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1363573005 |
| SKOS |
exactMatch MIM:617804 exactMatch ORDO:647788 broadMatch ICD10CM:G11.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDMIAL [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |