MEHMO syndrome
Findings
No curated finding names MEHMO syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010258), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients · Male
- MicrocephalyHPOHP:0000252
- 9 of 9 reported patients · Male
- Very frequent (80% to 99% of cases)
- Male hypogonadismHPOHP:0000026
- 9 of 11 reported patients · Male
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- External genital hypoplasiaHPOHP:0003241
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- Very frequent (80% to 99% of cases)
- Birth length less than 3rd percentileHPOHP:0003561
- 5 of 7 reported patients · Male
- Small for gestational ageHPOHP:0001518
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EIF2S3HGNC:3267
- Definitive · ClinGen · X-linked · 2021
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
15 names
Resolves to: MEHMO syndrome
- Also called
- intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesityintellectual disability, X-linked, syndromic 20intellectual disability, X-linked, syndromic 25intellectual disability, X-linked, syndromic, Borck typeintellectual disability, X-linked, syndromic, Borck type; MRXSBRKMEHMOMEHMO syndrome, X-linked recessivemental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesitymental retardation, X-linked, syndromic, Borck typeMRXS20MRXS25MRXSBRKsyndromic X-linked intellectual disability 20syndromic X-linked intellectual disability 25