| Metadata | |
|---|---|
| ID | DOID:0070815 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070815 Copy |
| Name | neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities |
| Definition | An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21. https://pubmed.ncbi.nlm.nih.gov/39708122/, https://pubmed.ncbi.nlm.nih.gov/38977784/, https://pubmed.ncbi.nlm.nih.gov/39038237/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012716 exactMatch MIM:621182 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSFB [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |