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Children's Hospital of Philadelphia
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Human Genetics Conditions We Evaluate
22q11.2 Deletion and Duplication Syndromes
Alagille Syndrome
Beckwith-Wiedemann Syndrome
Chronic Granulomatous Disease (CGD)
Congenital Disorders of Glycosylation (CDG)
Congenital Heart Disease (CHD) in Children
Cornelia de Lange Syndrome
Dravet Syndrome
Epidermolysis Bullosa
Friedreich's Ataxia
Genetic Cervical Spine Conditions
Hemihyperplasia
KCNB1-Related Disorders
KCNC1-Related Disorders
KCNQ2-Related Epilepsies
Mitochondrial Disease
Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Type II
Noonan Syndrome
Pallister-Killian Syndrome
PCDH19-Epilepsy
PTEN Hamartoma Tumor Syndrome
SCN2A-Related Disorders
SCN3A-Related Neurodevelopmental Disorders
SCN8A-Related Epilepsy
Skraban-Deardorff Syndrome
Spondyloepiphyseal Dysplasia Congenita
STXBP1-Related Disorders
Wiskott-Aldrich Syndrome
WT1-Related Wilms Tumor Syndromes