Phenotype #0000001403

Individual ID	00002426
Associated disease	MFDGA;MFDM
Diagnosis/Initial	-
Diagnosis/Definite	MFDGA
Phenotype details	diagnosed with FHS at age of 7y, markely poor growth; expressive language delay; hearing problems; 2.5y bone age delay; prominent nose and ears; 46,XY; attended a normal school but required intensive speech therapy; at 15y, height<-3SD and paucity of speech; stage 2 high blood pressure; history of an episode of macroscopic hematuria and left flank pain; mild left ventricular hypertrophy in echocardiogram; multiple bilateral cysts in his kidneys; creatinine of 87 mmol/L, eGFR of 99ml/min/1.73m2 with the MDRD equation or 106ml/min/1.73m2 with the more accurate CKD-EPI equation. Urinalysis revealed no blood and 30 mg/dl proteinuria; a left posterior cerebral artery with a hypoplastic segment of the precommunicating part of the posterior cerebral artery and co-dominant vertebral arteries
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Birth_Details	40w; weight 3570
Height-Weight-OFC	-
Protein	-
Owner name	Dennis E. Bulman
Database submission license	No license selected
Created by	Dennis E. Bulman
Date created	2013-09-03 22:44:51 +02:00 (CEST)
Date last edited	2025-03-08 16:45:03 +01:00 (CET)

Global Variome shared LOVD