Phenotype #0000355047

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00469902
Associated disease	skeletal dysplasia
Diagnosis/Initial	short stature
Diagnosis/Definite	SEDCJD
Phenotype details	see paper; ..., short stature, height 40cm (SD-5.6); height 85.8cm (SD-10.4); facial dysmorphism; no cognitive impairment; cataracts; cerebro-vascular aneurysm rupture; weak voice
Inheritance	Familial, autosomal recessive
Age/Examination	12y6m (12 years, 6 months)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	short stature
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-20 19:27:00 +01:00 (CET)
Date last edited	N/A

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