Neuromuscular Oculoauditory Syndrome (NMOAS)

Neuromuscular Oculoauditory Syndrome(来自ICD-11)

别称:

Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures

Nmoas

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuromuscular Oculoauditory Syndrome, is also known as neuromuscular disease and ocular or auditory anomalies with or without seizures. An important gene associated with Neuromuscular Oculoauditory Syndrome is DHX16 (DEAH-Box Helicase 16). Affiliated tissues include eye and kidney, and related phenotypes are global developmental delay and generalized hypotonia

查看原文参与反馈