| Disease ID | Source | Name | Description |
| 261990 | OMIM | Abnormal hair, joint laxity, and developmental delay (HJDD) | An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa. The disease may be caused by variants affecting the gene represented in this entry. |