Phenotype #0000352809

Individual ID 00467598
Associated disease ALAZS
Phenotype details see paper; ..., weight 26kg (-2.44 SD), height 129cm (-2.77 SD), OFC 50 (-2.55 SD); broad nose; short philtrum; deep-seated eyes; triangular face; malar hypoplasia; wide mouth; full lips; intellectual disability; early developmental delay; anxiety; syndactyly; thickened skin over the hands and feet; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly
Diagnosis/Initial hyperoxaluria
Inheritance Familial, autosomal recessive
Diagnosis/Definite HP1
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-23 09:44:12 +02:00 (CEST)
Date last edited N/A

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