You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal recessive complex spastic paraplegia type 9B

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
Uniprot Description A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients.
Disease Ontology Description A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0014702:  autosomal recessive complex spastic paraplegia type 9B
Orphanet:447760: 
UMLS:C4225272: