Phenotype #0000292445

Individual ID 00399328
Associated disease albinism
Diagnosis/Initial ocular albinism
Diagnosis/Definite Foveal Hypoplasia 2
Phenotype details Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486)
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 28y
Age/Onset -
Phenotype/Onset rs1161159416
Owner name Mohammed A.M Derar
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Mohammed A.M Derar
Date created 2022-01-19 15:17:51 +01:00 (CET)
Date last edited 2022-01-21 12:26:01 +01:00 (CET)

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.