Global Variome shared LOVD

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Phenotype #0000326664 Individual ID 00436486 Associated disease ? Diagnosis/Initial craniometadiaphyseal osteosclerosis, hip dysplasia Diagnosis/Definite - Phenotype details see paper; ..., height 160.6cm (−0.25 SD), OFC +6.1 SD; normal development; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; no hematological abnormalities; calvarial thickening; sandwich vertebrae; cortical thickening; coarse trabeculae; MRI brain arachnoid cyst middle cranial fossa; ultrasound abdomen mild hepatomegaly Inheritance Familial, autosomal recessive Age/Examination 15y6m (15 years, 6 months) 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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