Phenotype #0000237156

Individual ID 00312027
Associated disease neuropathy, optic
Phenotype details Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Generalized myoclonic seizure (HP:0002123); Intellectual disability (HP:0001249); Thick lower lip vermilion (HP:0000179); Protruding ear (HP:0000411); Abnormality of the outer ear (HP:0000356); Midface retrusion (HP:0011800)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Age/Examination 35y (35 years)
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
Owner name Benjamin Billiet
Database submission license No license selected
Created by Benjamin Billiet
Date created 2020-09-30 11:21:53 +02:00 (CEST)
Date last edited 2021-05-05 16:34:12 +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.