Phenotype #0000154292

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00206151
Associated disease	NS1
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	a myopathic appearance of the face with bilateral ptosis was evident, a high forehead, micrognatia, and slight webbing, Abnormalities of skin pigmentation included cafe-au-lait spots, lentigines and vitiligo areas
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	9y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Paola Riva
Database submission license	No license selected
Created by	Paola Riva
Date created	2014-10-15 12:07:10 +02:00 (CEST)
Date last edited	2014-10-26 21:23:05 +01:00 (CET)

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