Phenotype #0000058321

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00078550
Associated disease	AFD1
Phenotype details	Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; cleft soft palate; abnormal ears; hearing loss; abnormal thumbs (stiff bilateral); radioulnar synostosis (bilateral)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Gerard C.P. Schaafsma
Date created	2012-06-06 09:16:40 +02:00 (CEST)
Date last edited	N/A

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