microcephaly 1, primary, autosomal recessive
Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.
MONDO:0016660
autosomal recessive primary microcephaly
is_a
MONDO:0100200
microcephaly with intellectual disability
is_a
MCPH1
related
MCPH1 autosomal recessive primary microcephaly
exact
autosomal recessive primary microcephaly caused by mutation in MCPH1
exact
microcephaly 1, primary, autosomal recessive
exact
premature chromosome condensation with microcephaly and mental retardation
related