Global Variome shared LOVD

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Phenotype #0000310067 Individual ID 00418771 Associated disease NPHP1 Phenotype details 5y: diagnosed with ocular motor apraxia, confirmed by reexamination at 19y, with strabismus concomitans convergens alternans; visual acuity, 1y: 0.15; 21y right/left eye: 0.4 / 0.5; no fundus abnormalities; 7y: polyuria and polydipsia; 20y: kidney biopsy confirmed the diagnosis of nephronophthisis; serum creatinine: 300 umol/L; creatinine clearance: 33 mL/min/m2, proteinuria 0.8 g/24 h; treated for mild arterial hypertension; no retinitis pigmentosa and optical nerve coloboma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis with ocular motor apraxia type Cogan Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset ocular motor apraxia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-06 12:46:10 +02:00 (CEST) Date last edited N/A

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