Phenotype #0000319114

Global Variome shared LOVD

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

Individual ID	00428202
Associated disease	CPHD
Diagnosis/Initial	growth failure
Diagnosis/Definite	CPHD3
Phenotype details	see paper; ..., birth weight 4000g; 9y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	09y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-24 10:04:11 +01:00 (CET)
Date last edited	N/A

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