neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Information
- Disease name
- neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- Disease ID
- DOID:0081263
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/35861185/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060308
- Cross Reference ID (Disease Ontology)
- MIM:617913
- Exact Synonym (Disease Ontology)
- NEDMCR syndrome