Global Variome shared LOVD

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Phenotype #0000326667 Individual ID 00436489 Associated disease ? Diagnosis/Initial craniometadiaphyseal osteosclerosis, hip dysplasia Diagnosis/Definite - Phenotype details see paper; ..., height 49cm (−4.3 SD), OFC +1.7 SD; motor developmental delay; hypertelorism; low nasal bridge; atrium septum defect, ventricular septal defect; mild anemia; MRI brain normal; ultrasound abdomen normal Inheritance Familial, autosomal recessive Age/Examination 3m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-09-18 15:25:36 +02:00 (CEST) Date last edited N/A

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