Term Name: Charcot-Marie-tooth disease axonal type 2LL
Synonyms: CMT2LL
Definition: A Charcot-Marie-Tooth disease type 2 characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia that has_material_basis_in compound heterozygous mutation in the DARS2 gene, encoding mitochondrial aspartyl-tRNA synthetase, on chromosome 1q25.
Ontology: Human Disease [DOID:0070839]   ( DOID:0070839 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 2