MEHMO syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRXS25 MRXS20 MENTAL RETARDATION, X-LINKED, SYNDROMIC 25 MENTAL RETARDATION, X-LINKED, SYNDROMIC 20 MEHMO X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity |
| Number of Symptoms | 23 |
| OrphanetNr: | 85282 |
| OMIM Id: |
300148
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| ICD-10: |
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| UMLs: |
C2931496 |
| MeSH: |
C537451 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
X-linked recessive Mitochondrial inheritance [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial disease with epilepsy
-Rare neurologic disease Mitochondrial disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Syndromic obesity -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0000293) | Full cheeks | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0000499) | Abnormality of the eyelashes | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000752) | Hyperactivity | Frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0001182) | Tapered finger | Frequent [Orphanet] | 93 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Steinmuller et al. (1998) described a previously unrecognized X-chromosomal mental retardation syndrome and referred to it by the acronym MEHMO, which was derived from the clinical hallmarks: mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. Life ... |