| Metadata | |
|---|---|
| ID | DOID:0081099 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081099 Copy |
| Name | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies |
| Definition | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/30296593/ |
| Xrefs | |
| Synonyms |
autosomal recessive mental retardation 36 [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |