Phenotype #0000326685

Individual ID 00436507
Associated disease BBS5
Phenotype details Obesity HP:0001513, Postaxial polydactyly HP:0100259, Intellectual disability HP:0001249, Hypogonadism HP:0000135, Acanthosis nigricans HP:0000956, Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510
Diagnosis/Initial Retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite # 615983
Age/Examination 10y (10 years)
Age/Diagnosis 20y
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 2023-09-20 19:39:40 +02:00 (CEST)
Date last edited 2023-09-21 10:52:07 +02:00 (CEST)

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