Phenotype #0000050891

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00064693
Associated disease	ACRDYS2
Phenotype details	advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Gerard C.P. Schaafsma
Date created	2012-05-03 11:47:58 +02:00 (CEST)
Date last edited	N/A

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