Log In|Sign Up
中文Neuromuscular Oculoauditory Syndrome (NMOAS)
Alias:
Neuromuscular Disease and Ocular or Auditory Anomalies with or Without Seizures
Nmoas
Favorite
神经肌肉视听综合症，也被称为神经肌肉疾病和伴有或不伴有癫痫发作的视听异常。与神经肌肉视听综合症有关的重要基因是DHX16（DEAH-Box Helicase 16）。相关组织包括眼睛和肾脏，相关表型为全球发育延迟和全身性肌张力减退
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
