Phenotype #0000037120

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00050508
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	coarse hair, cupped ear, downslanted palpebral fissures, global developmental delay, prominent occiput, frontal bossing, increased body weight, soft doughy skin, thin upper lip vermilion, smooth philtrum, tapered finger, pes planus
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-09-27 16:16:40 +02:00 (CEST)
Date last edited	N/A

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