Global Variome shared LOVD

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Phenotype #0000129039 Individual ID 00163930 Associated disease CPHD3 Phenotype details neonatal panhypopituitarism, ACTH deficiency, microcephaly, micropenis; birth no hypoglycemia; 2y-GH deficiency; 3y-TSH deficiency; MRI brain anterior pituitary hypoplasia, thin pituitary stalk, non-visualized posterior pituitary Diagnosis/Initial neonatal panhypopituitarism Inheritance Unknown Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pauline Romanet Database submission license No license selected Created by Johan den Dunnen Date created 2018-04-26 16:02:00 +02:00 (CEST) Date last edited 2022-12-22 16:38:38 +01:00 (CET)

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