Term Name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Synonyms: NEDMCR syndrome
Definition: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.
Ontology: Human Disease [DOID:0081263]   ( DOID:0081263 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder