Details of Disease

General Information of Disease (ID: DIS5ATZ4)

Disease Name Blepharophimosis - intellectual disability syndrome, MKB type
Synonyms
blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type; Ohdo syndrome, X-linked; OHDOX; blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type; X-linked Ohdo syndrome; BMRS, Maat-Kievit-Brunner type; Ohdo syndrome, X-linked, X-linked recessive; BMRS, MKB type
Definition 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.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISX8R9X: MED12-related intellectual disability syndrome
DIS0P6KV: Ohdo syndrome and variants
DIS5ATZ4: Blepharophimosis - intellectual disability syndrome, MKB type
Disease Identifiers
MONDO ID
MONDO_0010477
UMLS CUI
C3698541
OMIM ID
300895
MedGen ID
785805
Orphanet ID
293707
SNOMED CT ID
699297004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MED12 OTQZ4D2X Strong X-linked [1]
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References

1 Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.