ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

ROUSSY-LEVY SYNDROME

http://purl.bioontology.org/ontology/OMIM/180800

ROUSSY-LEVY SYNDROME

C0205713

17p11.2

DSS

CMT1A

CIDP

CMT1E

PMP22

http://purl.bioontology.org/ontology/OMIM/MTHU015775

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU015776

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU002851

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000325

http://purl.bioontology.org/ontology/OMIM/MTHU015778

http://purl.bioontology.org/ontology/OMIM/MTHU002832

http://purl.bioontology.org/ontology/OMIM/MTHU015774

http://purl.bioontology.org/ontology/OMIM/MTHU006146

http://purl.bioontology.org/ontology/OMIM/MTHU000326

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU004414

http://purl.bioontology.org/ontology/OMIM/MTHU015777

http://purl.bioontology.org/ontology/OMIM/MTHU015773

http://purl.bioontology.org/ontology/OMIM/MTHU000336

Phenotype description, molecular basis known.

180800

3

pound

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

Slowly progressive [MISCELLANEOUS]

Onset in early childhood [MISCELLANEOUS]

Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]

Upper limb involvement usually occurs later [MISCELLANEOUS]

Caused by mutation in the myelin protein zero gene (MPZ, 159440.0021) [MOLECULAR BASIS]

Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0001) [MOLECULAR BASIS]

Allelic disorders with overlapping phenotypes include Charcot-Marie-Tooth disease type 1 (CMT1B, 118200 and CMT1A, 118220) and Dejerine-Sottas syndrome (DSS, 145900) [MISCELLANEOUS]

T047