Term Name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
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.
Ontology: Human Disease [DOID:0070346]   ( DOID:0070346 )

Relationships
is a type of: syndrome