microcephaly 13, primary, autosomal recessive
Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.
MONDO:0016660
autosomal recessive primary microcephaly
is_a
MONDO:0019342
Seckel syndrome
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
CENPE autosomal recessive primary microcephaly
exact
MCPH13
related
autosomal recessive primary microcephaly caused by mutation in CENPE
exact
microcephaly 13, primary, autosomal recessive
exact