Phenotype #0000326758

Individual ID 00436612
Associated disease MPS3C
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, Short stature HP:0004322, Intellectual disability HP:0001249, Abnormal facial shape HP:0001999
Diagnosis/Initial Retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite # 252930
Age/Examination 50y (50 years)
Age/Diagnosis 55y
Age/Onset 01y
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 06:50:06 +02:00 (CEST)
Date last edited 2023-10-01 21:53:47 +02:00 (CEST)

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