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periventricular heterotopia with microcephaly, autosomal recessive
Disease Summary
Associated Targets (3)
Tbio
3
Uniprot Description A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.
Mondo Term and Equivalent IDs
MONDO:0011966: periventricular heterotopia with microcephaly, autosomal recessive
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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.
MESH:C564292
OMIM:608097
UMLS:C1842563
MONDO:0011966
High level summary of knowledge for a disease, including descriptions and datasource references.