hereditary spastic paraplegia 87

Term ID

DOID:0070456

Synonyms

autosomal recessive spastic paraplegia 87
SPG87

Definition

A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. https://pubmed.ncbi.nlm.nih.gov/35718349/

References

MIM:619966

Ontology

Human Disease ( DOID:0070456 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models