has material basis in germline mutation in VPS37A hereditary spastic paraplegia 53 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_53_autosomal_recessive spastic paraplegia 53, autosomal recessive UMLS:C3539494 hereditary spastic paraplegia type 53 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Orphanet:319199 MEDGEN:761340 autosomal recessive complex spastic paraplegia caused by mutation in VPS37A SPG53 MONDO:0013962 GARD:0017445 OMIM:614898 hereditary spastic paraplegia 53 DOID:0110805 SCTID:723823004 VPS37A autosomal recessive complex spastic paraplegia autosomal recessive spastic paraplegia type 53 complex hereditary spastic paraplegia