has material basis in germline mutation in EIF2S3 MEHMO syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/mehmo_syndrome X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome MRXSBRK mental retardation, X-linked, syndromic 20 intellectual disability, X-linked, syndromic 25 mental retardation, X-linked, syndromic 25 syndromic X-linked intellectual disability 25 mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity SCTID:722037004 MRXS25 mental retardation, X-linked, syndromic, Borck type MEHMO GARD:0009178 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK MEDGEN:375855 MRXS20 syndromic X-linked intellectual disability 20 MEHMO syndrome, X-linked recessive MONDO:0010258 OMIM:300148 UMLS:C1846278 OMIM:300987 MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. MESH:C537451 icd11.foundation:500681653 MEHMO syndrome X-linked MEHMO syndrome intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity intellectual disability, X-linked, syndromic, Borck type Orphanet:85282 intellectual disability, X-linked, syndromic 20 DOID:0060801 obsolete mitochondrial disease with epilepsy obsolete mitochondrial disease with peripheral neuropathy obsolete syndromic genetic obesity X-linked syndromic intellectual disability