Global Variome shared LOVD

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

Phenotype #0000308352 Individual ID 00416632 Associated disease MCLMR Inheritance Isolated (sporadic) Phenotype details best corrected visual acuity right, left eye: 0.6,no perception of light; refraction right, left eye: myopic astigmatism; ocular fundus: myopic astigmatism, right eye: lacunae of chorioretinal atrophy with incomplete peripheral retinal vascularization, left eye: retinal detachment; electrodiagnostic testing: reported as abnormal (no detailed description is available) Diagnosis/Initial - Age/Examination 2y (2 years) Diagnosis/Definite microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-07 14:46:17 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.