Journal
CLINICAL CASE REPORTS
Volume 10, Issue 6, Pages -Publisher
WILEY
DOI: 10.1002/ccr3.5989
Keywords
EIF2S3; MEHMO; X-linked genetic disease
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Funding
- Swedish Brain Foundation [FO2020-0351]
- Swedish Research Council [2019-02078]
- Swedish Research Council [2019-02078] Funding Source: Swedish Research Council
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This article describes two brothers with a recurrent truncating EIF2S3 variant and MEHMO syndrome. In addition to previously described symptoms, hypothermia and reduced umbilical blood flow were observed.
We describe two brothers with a recurrent truncating EIF2S3 variant and MEHMO (Mental retardation, Epileptic seizures, Hypogonadism and -genitalism, Microcephaly, Obesity). Both had the previously described facial dysmorphic features, microcephaly, developmental impairment, hypoglycemia, hypothyreosis, diabetes mellitus, epilepsy, hypertonus, obesity, and micropenis. Additionally, we describe hypothermia and reduced umbilical blood flow.
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