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Roussy-LÃ©vy syndrome

1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Atelosteogenesis type I

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

Roussy-LÃ©vy syndrome

Atelosteogenesis type I

MPZ	(UniProt - OMIM)		FLNB	(UniProt - OMIM)
PMP22	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PMP22	(0.63)	FLNB

Citations in the biomedical literature:

Roussy-LÃ©vy syndrome		Atelosteogenesis type I
	Synonym(s): - Hereditary areflexic dystasia, Roussy-LÃ©vy type		Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the nervous system -		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: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535396

Roussy-LÃ©vy syndrome
	Very frequent - Abnormal gait - Areflexia / hyporeflexia - Autosomal recessive inheritance - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Nerve conduction abnormality
Atelosteogenesis type I
(no data available)