Meckel syndrome, type 4
Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.
MONDO:0018921
Meckel syndrome
is_a
MONDO:0100451
CEP290-related ciliopathy
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
CEP290 Meckel syndrome
exact
MKS4
exact
Meckel syndrome caused by mutation in CEP290
exact
Meckel syndrome, type 4
exact
Meckel-Gruber syndrome, type 4
exact