Phenotype #0000326665

Individual ID 00436487
Associated disease ?
Diagnosis/Initial craniometadiaphyseal osteosclerosis, hip dysplasia
Diagnosis/Definite -
Phenotype details see paper; ..., height 85cm (−2.95 SD); global developmental delay; hypertelorism; low nasal bridge; hip dysplasia/luxation; no cardiac abnormalities; pancytopenia, transfusions, dyserythropoietic changes; calvarial thickening; sandwich vertebrae; cortical thickening; coarse trabeculae; MRI brain brain atrophy; ultrasound abdomen hepatomegaly
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
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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