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Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.
- Source :
-
Clinical Case Reports . Jun2022, Vol. 10 Issue 6, p1-4. 4p. - Publication Year :
- 2022
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *X-linked genetic disorders
*SYNDROMES
*EPILEPSY
*BROTHERS
*BLOOD flow
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 10
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 157665646
- Full Text :
- https://doi.org/10.1002/ccr3.5989