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neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081263
- Mondo Disease Ontology
- OMIM
