Global Variome shared LOVD

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Phenotype #0000310162 Individual ID 00418864 Associated disease NPHP1 Phenotype details age at time of presentation: 15y5m; serum creatinine (mg/dl): 2.4; haemoglobin (g/dl): 10.2; follow-up data: age at end-stage renal disease (years): 18y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 20y6m; ophthalmological symptoms: impaired visual acuity; decreased visual acuity: present; age at retinopathy (years): 22y6m; loss of central vision: present; ophthalmological examination: small parafoveal flecks, maculopathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 25y6m (25 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 2022-10-10 10:18:52 +02:00 (CEST) Date last edited N/A

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