| Disease ID | Source | Name | Description |
| 300749 | OMIM | Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus. The disease is caused by variants affecting the gene represented in this entry. |
| 300422 | OMIM | FG syndrome 4 (FGS4) | FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. The disease is caused by variants affecting the gene represented in this entry. |