amyotrophic lateral sclerosis type 4

Term ID

DOID:0060196

Synonyms

• ALS 4
• amyotrophic lateral sclerosis 4
• amyotrophic lateral sclerosis 4, juvenile
• dHMN with upper motor neuron signs
• distal hereditary motor neuropathy with pyramidal features
• distal hereditary motor neuropathy with upper motor neuron signs

Definition

An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (2)

References

• GARD:10502
• ICD10CM:G12.2
• OMIM:602433
• ORDO:357043

Ontology

Human Disease   ( DOID:0060196 )