Phenotype #0000045262

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00058671
Associated disease	AAS;MRX16
Phenotype details	Short stature, widow’s peak, hypertelorism, downslanting palpebral fissures, ptosis of the upper eyelids and a short nose with anteverted nares, brachydactyly and cutaneous syndactyly of both hands and a shawl scrotum.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Emmelien Aten
Database submission license	No license selected
Created by	Emmelien Aten
Date created	2010-02-16 16:36:15 +01:00 (CET)
Date last edited	N/A

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