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Amish lethal microcephaly

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Uniprot Description A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.
Mondo Term and Equivalent IDs
MONDO:0011790:  Amish lethal microcephaly
GARD:0008606: 
MESH:C538247: 
Orphanet:99742: 
SCTID:702437000: 
UMLS:C1846648: