Phenotype Library | Search Phenotypes

Hereditary Spastic Paraplegia 18 (MONDO:0012639)

Open Trait in OLS

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:13683

Synonyms

ERLIN2 autosomal recessive complex spastic paraplegia

SPG18

autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2

autosomal recessive spastic paraplegia 18

autosomal recessive spastic paraplegia type 18

hereditary spastic paraplegia type 18

intellectual disability, motor dysfunction and joint contractures

intellectual disability, motor dysfunction, and Joint contractures

spastic paraplegia 18

spastic paraplegia 18, autosomal recessive

Mapped terms

DOID:0110771

GARD:0004922

MEDGEN:442343

MESH:C567628

Orphanet:209951

SCTID:732932004

UMLS:C2749936

Child terms