Phenotype #0000326756

Individual ID 00436609
Associated disease ARTS;MRXS18
Phenotype details Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504, Optic atrophy HP:0000648, Short stature HP:0004322, Intellectual disability HP:0001249
Diagnosis/Initial Usher syndrome
Inheritance Familial, X-linked
Diagnosis/Definite # 301835
Age/Examination 30y (30 years)
Age/Diagnosis 70y
Age/Onset 06y
Phenotype/Onset -
Protein -
Owner name Rocio Villafuerte-de la Cruz
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Rocio Villafuerte-de la Cruz
Date created 2023-09-23 06:27:58 +02:00 (CEST)
Date last edited 2023-09-28 19:30:42 +02:00 (CEST)

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