| Metadata | |
|---|---|
| ID | DOID:0081263 |
| Name | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
| 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. https://pubmed.ncbi.nlm.nih.gov/35861185/ |
| Xrefs | |
| Synonyms |
NEDMCR syndrome [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |