blepharophimosis - intellectual disability syndrome, MKB type

Findings

No curated finding names blepharophimosis - intellectual disability syndrome, MKB type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

X-linked recessive inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• congenital nervous system disorder
• MED12-related intellectual disability syndrome
• Ohdo syndrome and variants

Resolves to: blepharophimosis - intellectual disability syndrome, MKB type

Also called

blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner typeBMRS, Maat-Kievit-Brunner typeBMRS, MKB typeOhdo syndrome, X-linked, X-linked recessiveX-linked Ohdo syndrome