Term Name: Charcot-Marie-tooth disease axonal type 2HH
Synonyms: CMT2HH
Definition: A Charcot-Marie-Tooth disease type 2 characterized by onset of vocal cord weakness resulting in stridor in infancy or early childhood that has_material_basis_in heterozygous mutation in the JAG1 gene on chromosome 20p12.
Ontology: Human Disease [DOID:0070837]   ( DOID:0070837 )

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