Phenotype #0000044573

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057923
Associated disease	PN
Phenotype details	Microretrognathism, low posterior hairline, lateral hypoplasia of eyebrows, hypoplasia of nasal aleas, hypermobile fingers. Increased CPK and LDK. Myelodysplastic features.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	14y
Age/Onset	10m
Phenotype/Onset	-
Protein	-
Owner name	Ludovica Volpi
Database submission license	No license selected
Created by	Ludovica Volpi
Date created	2011-09-26 16:54:24 +02:00 (CEST)
Date last edited	N/A

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