Phenotype #0000129040

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00163928
Associated disease	CPHD3
Phenotype details	neonatal panhypopituitarism, micropenis, ACTH deficiency, TSH deficiency, GH deficiency; MRI brain normal, no malformations; carrier mother 40y-normal pituitary evaluation
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	02y
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 16:03:17 +02:00 (CEST)
Date last edited	2022-12-22 16:22:06 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.