Phenotype #0000129038

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00163929
Associated disease	CPHD3
Phenotype details	neonatal panhypopituitarism, ACTH deficiency, TSH deficiency, GH deficiency; retinal dystrophy, low-set ears; MRI brain cystic anterior pituitary, corpus callosum digenesis
Diagnosis/Initial	neonatal panhypopituitarism
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CPHD3
Age/Examination	02y (2 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 16:00:16 +02:00 (CEST)
Date last edited	2022-12-22 16:34:10 +01:00 (CET)

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