| Term Name: | neurodevelopmental disorder with poor growth, seizures, and brain abnormalities |
|---|---|
| Synonyms: | NEDGSB |
| 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. |
| Ontology: | Human Disease [DOID:0070814] ( DOID:0070814 ) |