Phenotype #0000352803

Individual ID 00467592
Associated disease ALAZS
Phenotype details see paper; ..., weight 26kg (-4.6 SD), height 133cm (-6.5 SD), OFC 48 (-5.9 SD); broad nose; short philtrum; low set ears; narrow and short palpebral fissure; intellectual disability; early developmental delay; seizure; autism spectrum disorder; myopia/hypermetropia; strabismus; pigmentary retinopathy; hyperthyroidism; renal artery stenosis
Diagnosis/Initial hyperoxaluria
Inheritance Familial, autosomal recessive
Diagnosis/Definite HP1
Age/Examination 19y (19 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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