Term Name: Charcot-Marie-Tooth disease type 4H
Synonyms: autosomal recessive Charcot-Marie-Tooth disease type 4H, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth neuropathy type 4H, CMT4H
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).
Ontology: Human Disease [DOID:0110192]   ( DOID:0110192 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 4