neurodevelopmental disorder with poor growth, seizures, and brain abnormalities

Term ID

DOID:0070814

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. https://pubmed.ncbi.nlm.nih.gov/39962046/

References

• MIM:621154
• UMLS_CUI:C6012710

Ontology

Human Disease   ( DOID:0070814 )