Phenotype #0000352808

Individual ID	00467597
Associated disease	ALAZS
Phenotype details	see paper; ..., weight 28kg (-4.4 SD), height 126cm (-5.7 SD), OFC 50 (-4 SD); broad nose; short philtrum; deep-seated eyes; low set ears; triangular face; sparse eyebrows; wide mouth; intellectual disability; early developmental delay; anxiety; cutaneous syndactyly; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; ectopic kidney
Diagnosis/Initial	hyperoxaluria
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HP1
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-23 09:44:12 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD