Global Variome shared LOVD

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Phenotype #0000301991 Individual ID 00409877 Associated disease - Phenotype details did not follow objects at age 2.5 months, but saw lights; had no nystagmus, deeply night blindness; progressively improved so that he recognized various objects (cars, forks) and could move by himself in a bright environment at age 21 months; hyperopaia with refraction right/left eye: +4.25 (-0.50; 30deg) / +4.50 (-0.75; 165deg); subnormal binocular visual acuity (2.5/10) at the baby vision test; fundus: normal-looking maculae with good reflexes and normal optic disks; no pigment deposits either in the posterior pole or in periphery, retinal vessels were slightly narrowed, no depigmentation spots or flecks; electroretinogram: flat for all types of stimulation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal dystrophy Age/Examination 2y6m (2 years, 6 months) 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 2022-05-13 12:21:32 +02:00 (CEST) Date last edited N/A

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