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isolated cerebellar hypoplasia/agenesis

Disease Summary
Associated Targets ()

Mondo Description Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Mondo Term and Equivalent IDs
MONDO:0008939:  isolated cerebellar hypoplasia/agenesis
DOID:0070338: 
GARD:0001194: 
MESH:C562568: 
NCIT:C98890: 
Orphanet:1398: 
SCTID:16026008: