Phenotype #0000309981

Individual ID 00418681
Associated disease neuropathy, optic
Phenotype details Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Muscle fatigue (HP:0003750); Fatigable weakness (HP:0003473); Vertigo (HP:0002321); Nausea (HP:0002018); Dysesthesia (HP:0012534); Orthostatic tachycardia (HP:0012173); Attenuation of retinal blood vessels (HP:0007843); Dull foveal reflex (HP:0007750); Abnormal retinal nerve fiber layer morphology (HP:0020119); Abnormality of visual evoked potentials (HP:0000649); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Undetectable visual evoked potentials (HP:0007965); Macular dystrophy (HP:0007754); Abnormal foveal morphology (HP:0000493); Migraine (HP:0002076); Anemia (HP:0001903); Asthma (HP:0002099); Anxiety (HP:0000739)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal dominant
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset 03y
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 2022-10-03 17:14:09 +02:00 (CEST)
Date last edited 2024-09-14 16:50:18 +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.