Phenotype #0000355048

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00469903
Associated disease	skeletal dysplasia
Diagnosis/Initial	neck/shoulder pain
Diagnosis/Definite	SEDCJD
Phenotype details	see paper; ..., neck/shoulder pain, height 136cm (SD-6.2); height 136cm (SD-6.2); facial dysmorphism; no cognitive impairment; Arnold-Chiari malformation; cataracts
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	36y
Phenotype/Onset	neck/shoulder pain
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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