Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International 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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