neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Disease Ontology Browser

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Disease Ontology Browser

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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