Disease ID | Source | Name | Description |
618284 | OMIM | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) | An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. The disease may be caused by variants affecting the gene represented in this entry. |