Roifman-Chitayat Syndrome (ROCHIS)

Roifman-Chitayat Syndrome(来自ICD-11)

别称:

Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, and Developmental Delay

Combined Immunodeficiency with Faciooculoskeletal Anomalies

Rochis

Combined Immunodeficiency with Facio-Oculo-Skeletal Anomalies

Roifman-Chitayat Syndrome, Digenic

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Roifman-Chitayat Syndrome, also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay, is related to combined immunodeficiency and immune deficiency disease, and has symptoms including myoclonic seizures An important gene associated with Roifman-Chitayat Syndrome is KNSTRN (Kinetochore Localized Astrin (SPAG5) Binding Protein). Affiliated tissues include bone and t cells, and related phenotypes are intellectual disability and ataxia

查看原文参与反馈