| Metadata | |
|---|---|
| ID | DOID:0070814 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070814 Copy |
| Name | neurodevelopmental disorder with poor growth, seizures, and brain abnormalities |
| Definition | An autosomal recessive intellectual developmental disorder characterized by poor overall growth with short stature and microcephaly, motor and speech delay, and mild-to-severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the SPOUT1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/39962046/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012710 exactMatch MIM:621154 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDGSB [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |