Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000310165 Individual ID 00418867 Associated disease NPHP1 Phenotype details age at time of presentation: 14y; serum creatinine (mg/dl): 16.5; haemoglobin (g/dl): 3.7; follow-up data: age at end-stage renal disease (years): 14y; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 3y; ophthalmological symptoms: amblyopia, strabismus; decreased visual acuity: present; age at retinopathy (years): 14y5m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy, choroidal silence Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 17y5m (17 years, 5 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.