| Disease ID | Source | Name | Description |
| 215470 | OMIM | Boucher-Neuhauser syndrome (BNHS) | An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. The disease is caused by variants affecting the gene represented in this entry. |
| 245800 | OMIM | Laurence-Moon syndrome (LNMS) | An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. The disease is caused by variants affecting the gene represented in this entry. |
| 275400 | OMIM | Oliver-McFarlane syndrome (OMCS) | A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 612020 | OMIM | Spastic paraplegia 39, autosomal recessive (SPG39) | A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. The disease is caused by variants affecting the gene represented in this entry. |