Mehmo Syndrome (MEHMO)

Alias:
Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome
Mrxs20
Mrxs25
Mrxsbrk
Mehmo
Mental Retardation, X-Linked, Syndromic, Borck Type
Mental Retardation, X-Linked, Syndromic 20
Mental Retardation, X-Linked, Syndromic 25
Syndromic X-Linked Mental Retardation 20
Syndromic X-Linked Mental Retardation 25
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mehmo Syndrome, also known as mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, is related to microcephaly and hypoglycemia. An important gene associated with Mehmo Syndrome is EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma), and among its related pathways/superpathways are Metabolism of proteins and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include pituitary and thyroid, and related phenotypes are eeg abnormality and thick vermilion border
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Antenatal
<1/1000000
16
59
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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