MEHMO syndrome

MEHMO syndrome is characterised 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 localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000054 Micropenis Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0003241 External genital hypoplasia Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0009748 Large earlobe Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000713 Agitation Frequent (79-30%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0000819 Diabetes mellitus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
EIF2S3 eukaryotic translation initiation factor 2 subunit gamma 1968