Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene

Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene

The syndrome of mental retardation with congenital anomalies of type 99, limited to the female sex (OMIM: 300968) is an X-linked dominant disorder of the development of the central nervous system, characterized by delayed psychomotor development and mild or moderate mental retardation.In the article...

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Bibliographic Details
Main Authors: A. Sh. Latypov, E. V. Proskurin, O. P. Sidorova, I. A. Vasilenko, D. V. Kassina, M. S. Bunak
Format: Article
Language:Russian
Published: ABV-press 2025-01-01
Series:Русский журнал детской неврологии
Subjects:
intellectual retardation
congenital anomalies
usp9x mutation (omim: 300968)
mitochondria
Online Access:https://rjdn.abvpress.ru/jour/article/view/496
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