Phenotype #0000352812

Individual ID 00467601
Associated disease ALAZS
Phenotype details see paper; ..., weight 6.9kg (-4.2 SD), height 73cm (-2.8 SD), OFC 43 (-3.6 SD); deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; clinodactyly; undescended testis; atrial septal defect
Diagnosis/Initial hyperoxaluria
Inheritance Familial, autosomal recessive
Diagnosis/Definite HP1
Age/Examination 1y6m (1 year, 6 months)
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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