Phenotype #0000078999

Global Variome shared LOVD

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

Individual ID	00100786
Associated disease	EMPF
Phenotype details	see paper; chronic neurological disorder, postnatal microcephaly, developmental delay, pain insensitivity; muscle biopsy disclosed decreased respirato ry chain complex IV activity, ...
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	developmental delay
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-03-10 11:07:30 +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.