Global Variome shared LOVD

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Phenotype #0000228825 Individual ID 00301727 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details congenital panhypopituitarism; hormonal deficiency affecting only GH and Thyroid; same radiological abnormalities (hypoplastic anterior pituitary with shallow sella turcica ectopic posterior lobe, and hypothalamic hamartoma); no history of developmental delay or syndromic features on evaluation Inheritance Familial, autosomal recessive Age/Examination - 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 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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