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methylmalonic acidemia with homocystinuria, type cblX

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Mondo Term and Equivalent IDs
MONDO:0010657:  methylmalonic acidemia with homocystinuria, type cblX
GARD:0013137: 
MESH:C563136: 
Orphanet:369962: 
UMLS:C0796208: