Term Name: | neurodevelopmental disorder with spasticity and poor growth |
---|---|
Synonyms: | NEDSG |
Definition: | An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. |
Ontology: | Human Disease [DOID:0070421] ( DOID:0070421 ) |