Phenotype #0000059466

Individual ID	00079755
Associated disease	-
Phenotype details	growth hormone insensitivity with immunodeficiency, generalized excema, recurrent severe infections of the skin and respiratory tract that required episodes of hospitalization, recurrent episodes of pneumonia, chronic diarrhea, prolonged varicella complicated with bacterial infection, recurrent herpes zoster keratitis and uveitis of the left eye with progressive loss of visual activity, chronic lung disease with signs of chronic hypoxemia, congenital GH deficiency; persistently low growth rate and severe growth failure, prominent forehead, saddle nose, and high-pitched voice
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	15y04m (15 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-11-08 02:53:56 +01:00 (CET)
Date last edited	2019-12-08 11:20:26 +01:00 (CET)

Global Variome shared LOVD