ataxia - oculomotor apraxia type 4
Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
MONDO:0020047
autosomal recessive syndromic cerebellar ataxia
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0044807
inherited dystonia
is_a
AOA4
exact
PNKP oculomotor apraxia or related oculomotor disease
exact
ataxia - oculomotor apraxia type 4
exact
ataxia-oculomotor apraxia 4
related
ataxia-oculomotor apraxia-4
related
oculomotor apraxia or related oculomotor disease caused by mutation in PNKP
exact
SPAC23C11.04c