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 InternationalCreative Commons License
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.
  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.