otofaciocervical syndrome 2
Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
MONDO:0008163
otofaciocervical syndrome
is_a
OFC2
related
OTFCS2
related
PAX1 otofaciocervical syndrome
exact
otofaciocervical syndrome 2
exact
otofaciocervical syndrome caused by mutation in PAX1
exact
otofaciocervical syndrome type 2
exact