Phenotype #0000314490

Global Variome shared LOVD

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

Individual ID	00423283
Associated disease	AAAS
Phenotype details	5y-adrenal insufficiency; neonatal onset alacrima; 9y-onset achalasia; hyperreflexia, muscle weakness, delayed speech, nasal speech, excessive sweating; multiple dental caries, short stature
Diagnosis/Initial	triple A syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AAAS
Age/Examination	14y6m (14 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-14 16:58:58 +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.