| Disease ID | Source | Name | Description |
| 184450 | OMIM | Stuttering, familial persistent 1 (STUT1) | A familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 613744 | OMIM | Spastic paraplegia 51, autosomal recessive (SPG51) | A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. The disease is caused by variants affecting the gene represented in this entry. |