Term Name: | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
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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 ) |