neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (DOID:0081263)
Alliance: disease page
Synonyms: NEDMCR syndrome
Alt IDs: OMIM:617913
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.