| Metadata | |
|---|---|
| ID | DOID:0070811 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070811 Copy |
| Name | neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech |
| Definition | An autosomal recessive intellectual developmental disorder characterized by global developmental delay, delayed walking or inability to walk, moderate to profoundly impaired intellectual development with poor or absent speech, and poor overall growth, often with microcephaly that has_material_basis_in homozygous mutation in the INPP4A gene gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/39315527/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6065911 exactMatch MIM:621354 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDGQS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |