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Blepharophimosis-intellectual deficit syndrome, MKB type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Male infertility with normal virilization due to meiosis defect
4 OMIM references -
3 associated genes
No signs/symptoms info
Blepharophimosis-intellectual deficit syndrome, MKB type
Male infertility with normal virilization due to meiosis defect

MED12
(UniProt - OMIM)
 CFTR
(UniProt - OMIM)
SOHLH1
(UniProt - OMIM)
SYCP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MED12
(0.63)
CFTR


Citations in the biomedical literature:


Blepharophimosis-intellectual deficit syndrome, MKB type
MED12
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Blepharophimosis-intellectual deficit syndrome, MKB type
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- BMRS, MKB type
- BMRS, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.