Phenotype #0000142006

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00179516
Associated disease	AMD1
Phenotype details	see paper; ..., broad forehead, low nasal bridge, markedly short forearms short and broad fingers and toes, 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 09:40:20 +02:00 (CEST)
Date last edited	2020-07-02 16:28:49 +02:00 (CEST)

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