Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Intellectual disability-spasticity-ectrodactyly syndrome
Другие языки:

Intellectual disability-spasticity-ectrodactyly syndrome

Подписчиков: 0, рейтинг: 0
Intellectual disabilitt-spasticity-ectrodactyly syndrome
Other names Jancar syndrome
Autosomal recessive - en.svg
Specialty Medical genetics
Symptoms intellectual disabilities, spastic paraplegia, and distal limb defects such as ectrodactyly
Usual onset Birth
Duration Lifelong
Causes Genetic mutation
Risk factors Being part of a consanguineous family, being of Middle Eastern descent.
Prevention none
Frequency 3 families in the Middle East and Europe have been described in medical literature
Deaths -

Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature.



Новое сообщение