Global Variome shared LOVD

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

Phenotype #0000310164 Individual ID 00418866 Associated disease NPHP1 Phenotype details age at time of presentation: 10y6m; serum creatinine (mg/dl): 2.1; haemoglobin (g/dl): 9.7; follow-up data: age at end-stage renal disease (years): 11y1m; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 2y; ophthalmological symptoms: high myopia; decreased visual acuity: present; age at retinopathy (years): ; loss of central vision: absent; ophthalmological examination: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 15y6m (15 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

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