| Синдром Мартина — Белл Заболевание |
Синдро́м Ма́ртина — Белл — наследственное заболевание.
Развитие синдрома связано с экспансией единичных тринуклеотидов в Х-хромосоме и приводит к недостаточной экспрессии белка FMR1, который необходим для нормального развития нервной системы. Википедия
МКБ-10 : Q99.2
МКБ-11 : LD55
МКБ-9 : 759.83
OMIM : 309550
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS ... X-linked dominant inheritance · Macroorchidism · Penetrance · High-arched palate |
Fragile X syndrome (FXS) is an inherited genetic disorder that causes physical abnormalities, behavioral issues and a wide range of other health problems. Developmental delays · Developmental Milestones · Intellectual Disability |
2 нояб. 2022 г. · 1. Fragile X Syndrome ... Symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics. 31 Shareable Fragile X Facts · Testing and Diagnosis · Females · Fxtas |
5 авг. 2021 г. · Fragile X syndrome is a genetic disorder that affects a person's development, especially that person's behavior and ability to learn. More >> ... What causes Fragile X... · About · What are the symptoms of... |
Fragile X syndrome is the most common inherited cause of intellectual disability. About 1 in 3,600 boys and 1 in 4,000–6,000 girls have Fragile X syndrome. |
Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. |
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. Fragile X 101 · Fragile X MasterClass · The Fragile X Premutation · X Strides |
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