| Disease ID | Source | Name | Description |
| 615924 | OMIM | Encephalopathy, progressive, with or without lipodystrophy (PELD) | A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. The disease is caused by variants affecting the gene represented in this entry. |
| 270685 | OMIM | Spastic paraplegia 17, autosomal dominant (SPG17) | 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. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. The disease is caused by variants affecting the gene represented in this entry. |
| 269700 | OMIM | Congenital generalized lipodystrophy 2 (CGL2) | An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. The disease is caused by variants affecting the gene represented in this entry. |
| 619112 | OMIM | Neuronopathy, distal hereditary motor, 5C (HMN5C) | A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMN5C is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMN5C patients show axonal peripheral neuropathy and distal sensory impairment. HMN5C inheritance is autosomal dominant with incomplete penetrance. The disease is caused by variants affecting the gene represented in this entry. |