Phenotype #0000044571

Global Variome shared LOVD

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

Individual ID	00057921
Associated disease	PN
Phenotype details	poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	21y
Age/Onset	6m
Phenotype/Onset	-
Protein	-
Owner name	Ludovica Volpi
Database submission license	No license selected
Created by	Ludovica Volpi
Date created	2011-09-26 16:34:24 +02:00 (CEST)
Date last edited	2011-09-26 16:35:06 +02:00 (CEST)

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