has material basis in germline mutation in SPART Troyer syndrome https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome https://www.malacards.org/card/spastic_paraplegia_20_autosomal_recessive MEDGEN:97950 ICD9:335.29 DOID:0050886 spastic paraplegia 20 Cross-McKusick syndrome SCTID:230264003 Troyer syndrome SPG20 MESH:C536858 Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. UMLS:C0393559 Orphanet:101000 spastic paraplegia 20 (Troyer syndrome) autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis-distal muscle wasting syndrome MONDO:0010156 OMIM:275900 GARD:0005372 spastic paraplegia 20, autosomal recessive complex hereditary spastic paraplegia