ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

17q11 microdeletion syndrome

Epidermolysis bullosa simplex with muscular dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	PLEC

Citations in the biomedical literature:

17q11 microdeletion syndrome		Epidermolysis bullosa simplex with muscular dystrophy
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - EBS-MD - Limb girdle dystrophy with epidermolysis bullosa simplex

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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
17q11 microdeletion syndrome
(no data available)