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Blepharophimosis-intellectual deficit syndrome, MKB type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Attenuated Chédiak-Higashi syndrome
1 associated gene
16 signs/symptoms
Blepharophimosis-intellectual deficit syndrome, MKB type
Attenuated Chédiak-Higashi syndrome

MED12
(UniProt - OMIM)
 LYST
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MED12
(0.65)
LYST


Citations in the biomedical literature:


Blepharophimosis-intellectual deficit syndrome, MKB type
MED12
Attenuated Chédiak-Higashi syndrome
LYST



Blepharophimosis-intellectual deficit syndrome, MKB type
Attenuated Chédiak-Higashi syndrome

Synonym(s):
- BMRS, MKB type
- BMRS, Maat-Kievit-Brunner type
- Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type
Synonym(s):
- Atypical Chédiak-Higashi syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Attenuated Chédiak-Higashi syndrome

Very frequent
- Autosomal recessive inheritance
- Bruisability
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Iris albinism / ocular albinism
- Peripheral neuropathy
- Repeat respiratory infections

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Extrapyramidal syndrome
- Hypertonia / spasticity / rigidity / stiffness


Blepharophimosis-intellectual deficit syndrome, MKB type

(no data available)