Charcot-Marie-Tooth disease type 4H

Term ID

DOID:0110192

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). (2)

References

• ICD10CM:G60.0
• OMIM:609311
• ORDO:99954

Ontology

Human Disease   ( DOID:0110192 )