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neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy.
Mondo Term and Equivalent IDs
MONDO:0060640: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
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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:617862
UMLS:CN787271
MONDO:0060640
High level summary of knowledge for a disease, including descriptions and datasource references.