M
MEHMO sendromu
Kalıtsal - XLD/XLR
20'yi aşkın fenotip
Gelişme geriliği
Mikrosefali
Strabismus
İri kulaklar
Yüz uzun
Uzun filtrum
Yarık dudak
Yarık damak
Diastemalar
Genital organ anomalileri
Aşil tendonu kısa
Hipotoni
Psikomotor gerilik
Spastik görünüm
Reflekslerde artma
Yürüme güçlüğü
Beyinde yapısal kusurlar
Agresyona eğilim
Hipogonadizm
Puberte gecikmesi
Büyüme hormonu eksikliği
Hipoglisemi
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Leshinsky-Silver E, Zinger A, Bibi CN, et al. MEHMO (mental retardation, epileptic seizures, hypogenitalism, microcephaly, obesity): a new X-linked mitochondrial disorder. European Journal of Human Genetics, 10: 226-230, 2002
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Borck G, Shin B-S, Stiller B, et al. eIF2-gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Molecular Cell, 48: 641-646, 2012
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Moortgat S, Desir J, Benoit V, et al. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. American Journal of Medical Genetics, 170A: 2927-2933, 2016
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Skopkova M, Hennig F, Shin B-S, et al. EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO. Human Mutation, 38: 409-425, 2017