Global Variome shared LOVD

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Phenotype #0000300191 Individual ID 00408062 Associated disease - Phenotype details onset: 1st decade; photophobia: 5th decade; nystagmus: no; decline in visual acuity: 5th decade; myopia: no; keratoconus: no; cataract: yes; papillary pallor: severe; peripapillary atrophy: no; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: rare in the middle periphery; chorioretinal atrophy: mesh look; optical coherence tomography: foveolar thinning; visual field: not possible Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 55y (55 years) 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 2022-04-13 12:09:21 +02:00 (CEST) Date last edited N/A

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