Dejerine-Sottas syndrome
cv_term_accession
KW-0213
canonical
uniprot_keyword
KW-0213
canonical
name
Dejerine-Sottas syndrome
uniprot
synonym
DSS
uniprot
definition
Protein which, if defective, causes Dejerine-Sottas disease. DSS is a hereditary motor and sensory neuropathy (HMSN) of the Charcot-Marie- Tooth disease type 1 class. DSS is characterized by severe early onset, very slow nerve conduction velocities (less than 12m/sec) and raised cerebrospinal fluid protein concentrations (0.7 g/l). Clinical signs are delayed age of walking as well as areflexia.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords