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neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging.
Mondo Term and Equivalent IDs
MONDO:0060664: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617913
UMLS:CN889218
MONDO:0060664
High level summary of knowledge for a disease, including descriptions and datasource references.