| Metadata | |
|---|---|
| ID | DOID:0060801 |
| Name | MEHMO syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/12032729, https://www.ncbi.nlm.nih.gov/pubmed/9781023 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722037004 |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity [EXACT] MRXS20 [EXACT] MRXS25 [EXACT] syndromic X-linked mental retardation 20 [EXACT] syndromic X-linked mental retardation 25 [EXACT] X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome [EXACT] |
| Parent Relationships |