1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0081263 | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 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. |