neurodevelopmental disorder with spasticity and poor growth

Term ID

DOID:0070421

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. https://pubmed.ncbi.nlm.nih.gov/29868776/

References

• OMIM:618076

Ontology

Human Disease   ( DOID:0070421 )