Disease ID | Source | Name | Description |
614499 | OMIM | Mental retardation, autosomal recessive 34, with variant lissencephaly (MRT34) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present. The disease is caused by variants affecting the gene represented in this entry. |