Stickler syndrome, type 4
Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
MONDO:0019354
Stickler syndrome
is_a
COL9A1 autosomal recessive Stickler syndrome
exact
STICKLER syndrome, type IV
related
STL4
related
autosomal recessive Stickler syndrome caused by mutation in COL9A1
exact