| Disease ID | Source | Name | Description |
| 616834 | OMIM | Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) | An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |