Phenotype #0000319117

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00428205
Associated disease	CPHD
Diagnosis/Initial	combined pituitary hormone deficiency
Diagnosis/Definite	CPHD3
Phenotype details	see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-24 10:52:00 +01:00 (CET)
Date last edited	N/A

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