| Disease ID | Source | Name | Description |
| 300067 | OMIM | Lissencephaly, X-linked 1 (LISX1) | A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. The disease is caused by variants affecting the gene represented in this entry. |
| 300067 | OMIM | Lissencephaly, X-linked 1 (LISX1) | A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. The disease is caused by variants affecting the gene represented in this entry. |