Phenotype #0000310092

Individual ID 00418795
Associated disease neuropathy, optic
Phenotype details Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Dyschromatopsia (HP:0007641); Visual field defect (HP:0001123); Abnormal electroretinogram (HP:0000512); Hypercalcemia (HP:0003072); Sleep apnea (HP:0010535); Intestinal polyp (HP:0005266); Raynaud disease (HP:0030880); Ventricular arrhythmia (HP:0004308); Right bundle branch block (HP:0011712); Osteopenia (HP:0000938); Venous insufficiency (HP:0005293); Bowel irritability (HP:0033628); Photoreceptor layer loss on macular OCT (HP:0030609); Abnormal foveal morphology (HP:0000493); Macular dystrophy (HP:0007754)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 68y (68 years)
Age/Diagnosis -
Age/Onset 08y
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 2022-10-07 10:08:26 +02:00 (CEST)
Date last edited 2024-09-09 17:28:40 +02:00 (CEST)

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