| Disease ID | Source | Name | Description |
| 248000 | OMIM | Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH) | A disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism. The disease is caused by variants affecting the gene represented in this entry. |