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

Bkz Aarskog-Scott sendromu

  • 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

  • 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

  • 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

  • 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