Phenotype #0000204978

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00267049
Associated disease	SCT
Phenotype details	short stature, short neck, dysmorphic face
Diagnosis/Initial	scoliosis, Lordosis, carpotarsal fusion
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCT
Age/Examination	31y (31 years)
Age/Diagnosis	31y
Age/Onset	07y01m
Phenotype/Onset	07y01m
Protein	-
Owner name	Samina Yasin
Database submission license	No license selected
Created by	Samina Yasin
Date created	2019-11-01 07:28:14 +01:00 (CET)
Date last edited	2019-11-02 09:15:40 +01:00 (CET)

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