has material basis in germline mutation in CAPN1 autosomal recessive spastic paraplegia type 76 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_76_autosomal_recessive UMLS:C5567483 SPG76 autosomal recessive complex spastic paraplegia caused by mutation in CAPN1 MEDGEN:1798906 OMIM:616907 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. GARD:0017892 Orphanet:488594 hereditary spastic paraplegia type 76 spastic paraplegia 76, autosomal recessive MONDO:0014827 DOID:0110821 CAPN1 autosomal recessive complex spastic paraplegia hereditary spastic paraplegia 76 complex hereditary spastic paraplegia