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Microcephaly 1, primary, autosomal recessive

rare

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.

Identifiers
MONDO:0009617 OMIM:251200Orphanet:52183
Causal genes
MCPH1
Part of
Autosomal recessive primary microcephalyMicrocephaly with intellectual disability
Also known as
autosomal recessive primary microcephaly caused by mutation in MCPH1 · MCPH1 · MCPH1 autosomal recessive primary microcephaly · premature chromosome condensation with microcephaly and mental retardation

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