ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2Q

Epidermolysis bullosa simplex with muscular dystrophy

PLEC

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2Q		Epidermolysis bullosa simplex with muscular dystrophy
	Synonym(s): - Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency - LGMD2Q		Synonym(s): - EBS-MD - Limb girdle dystrophy with epidermolysis bullosa simplex

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Epidermolysis bullosa simplex with muscular dystrophy
	Very frequent - Alopecia - Autosomal recessive inheritance - Muscle weakness / flaccidity - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / hypoplastic / hyperconvex fingernails - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Ptosis - Skin hypoplasia / aplasia / atrophy Occasional - Asthenia / fatigue / weakness - Myasthenia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
(no data available)