Phenotype #0000326661

Individual ID 00436483
Associated disease ?
Diagnosis/Initial craniometadiaphyseal osteosclerosis, hip dysplasia
Diagnosis/Definite -
Phenotype details see paper; ..., height 158.2cm (−1.41 SD), OFC +2.2 SD; temporary selective mutism; hypertelorism; low nasal bridge; hip dysplasia/luxation; patent ductus arteriosus; no hematological abnormalities; calvarial thickening; sandwich vertebrae; cortical thickening; metaphyseal flaring; coarse trabeculae; MRI brain mild pachygyria with thick frontal/temporal cortex, choanal stenosis; ultrasound abdomen normal
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 InternationalCreative Commons License
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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