Phenotype #0000309680

Individual ID 00418313
Associated disease neuropathy, optic
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); poor visual acuity (HP:0007663); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Hypercalcemia (HP:0003072)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset <18y
Phenotype/Onset -
Protein -
Owner name Mohamed Selhane
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Mohamed Selhane
Date created 2022-09-27 20:04:54 +02:00 (CEST)
Date last edited 2024-09-09 17:27:36 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.