Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0012455
Kleefstra syndrome
is_a
9q-syndrome
broad
KLEFS1
broad
Kleefstra syndrome
broad
Kleefstra syndrome 1
exact
chromosome 9q34.3 deletion syndrome
broad