Phenotype #0000142003

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179511
Associated disease	AMD1
Phenotype details	see paper; ..., markedly short forearms, short and broad fingers and toes and broad forehead, broad face, limited extension elbows, normal motor milestones
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AMDM
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Height-Weight-OFC	-
Protein	-
Owner name	Noor-ul-ain Ain
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2018-08-24 09:36:35 +02:00 (CEST)
Date last edited	2020-07-02 16:16:28 +02:00 (CEST)

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