blepharophimosis - intellectual disability syndrome, MKB type
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
MONDO:0000734
Ohdo syndrome and variants
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0100000
MED12-related intellectual disability syndrome
is_a
BMRS, MKB type
exact
BMRS, Maat-Kievit-Brunner type
exact
OHDOX
related
Ohdo syndrome, X-linked
related
Ohdo syndrome, X-linked, X-linked recessive
exact
X-linked Ohdo syndrome
exact
blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
exact
blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type
related
SPAC688.08