neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies

Term ID

DOID:0070346

Synonyms

Definition

A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. https://www.ncbi.nlm.nih.gov/pubmed/618571

References

• MIM:618571

Ontology

Human Disease   ( DOID:0070346 )