Mehmo Syndrome (MEHMO)

Mehmo Syndrome(来自ICD-11)

别称:

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

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