Autosomal recessive spastic paraplegia type 64 (SPG64) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC12A6 gene, which is responsi...

Autosomal recessive spastic paraplegia type 67 (SPG67) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 69 (SPG69) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved i...

Autosomal recessive spastic paraplegia type 70 (SPG70) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsibl...

Autosomal recessive spastic paraplegia type 71 (SPG71) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved i...

Autosomal recessive spastic paraplegia type 74 (SPG74) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 75 (SPG75) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 76 (SPG76) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 77 (SPG77) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsi...

Autosomal recessive spastic paraplegia type 78 (SPG78) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved i...

Autosomal recessive spastic paraplegia type 9B (SPG9B) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene. Symptoms usually be...

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ARSA-BD) is a rare genetic disorder characterized by progressive ataxia (loss of coordination), blindness, and deafness. It is caused by mutations in the PEX1 gene, which is r...

Autosomal recessive spondylometaphyseal dysplasia, Megarbane type (SMDM) is a rare genetic disorder characterized by short stature, skeletal abnormalities, and hearing loss. It is caused by mutations in the COL2A1 gene, which is responsible for th...

Autosomal recessive Stickler syndrome is a genetic disorder that affects the eyes, ears, and joints. It is caused by mutations in the COL2A1 gene, which is responsible for producing collagen, a protein that helps give structure to the body's tissu...

Autosomal semi-dominant severe lipodystrophic laminopathy is a rare genetic disorder characterized by the progressive loss of fat tissue in the body, leading to a variety of physical and metabolic complications. It is caused by mutations in the LM...

Autosomal spastic paraplegia type 30 (SPG30) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG30 gene, which is located on chromosom...