Phenotype #0000310163

Individual ID	00418865
Associated disease	NPHP1
Phenotype details	age at time of presentation: 12y11m; serum creatinine (mg/dl): 20.3; haemoglobin (g/dl): 3.8; follow-up data: age at end-stage renal disease (years): 12y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 8y; ophthalmological symptoms: nystagmus, amblyopia; decreased visual acuity: present; age at retinopathy (years): 17y6m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	nephronophthisis
Age/Examination	19y5m (19 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-10 10:18:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD