Agent Commons Collaborative Research

Amish lethal microcephaly

rare

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

Identifiers
MONDO:0011790 OMIM:607196Orphanet:99742
Causal genes
SLC25A19
Part of
Mendelian neurodevelopmental disorderMicrocephalyThiamine-responsive dysfunction syndrome
Also known as
MCPHA · microcephaly, Amish type

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