Phenotype #0000326663

Individual ID 00436485
Associated disease ?
Diagnosis/Initial craniometadiaphyseal osteosclerosis, hip dysplasia
Diagnosis/Definite -
Phenotype details see paper; ..., height 113.5cm (−1.9 SD), OFC +3.4 SD; global developmental delay; hypertelorism; low nasal bridge; no hip dysplasia/luxation; atrium septum defect, ventricular septal defect; pancytopenia, transfusions; 28d-no calvarial thickening; sandwich vertebrae; coarse trabeculae; MRI brain ectopic pituitary gland, corpus callosum hypoplasia; ultrasound abdomen bilateral duplex kidneys
Inheritance Familial, autosomal recessive
Age/Examination 7y1m (7 years, 1 month)
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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