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diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Uniprot Description A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia.
Mondo Term and Equivalent IDs
MONDO:0014335:  diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Orphanet:404437: 
UMLS:C4014239: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found