| Disease ID | Source | Name | Description |
| 618275 | OMIM | Hypotrichosis 14 (HYPT14) | A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. The disease is caused by variants affecting the gene represented in this entry. |
| 618840 | OMIM | Alopecia-mental retardation syndrome 4 (APMR4) | An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. The disease is caused by variants affecting the gene represented in this entry. |
| 616509 | OMIM | Cataract 44 (CTRCT44) | An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The disease is caused by variants affecting the gene represented in this entry. |