Phenotype #0000069481

Global Variome shared LOVD

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

Individual ID	00090108
Associated disease	PN
Phenotype details	poikiloderma; sparse eyelashes; dental problems; skeletal alterations; enlarged liver-spleen; phimosis; short stature; neutropenia; myelodysplastic changes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-12-05 15:54:32 +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.