Phenotype #0000349772

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00462272
Associated disease	RNS
Phenotype details	see paper; ..., facial dysmorphy, delayed speech, delayed cognition; radiography small sclerotic areas lower part right femur, abnormally-shaped skull with minimal sclerosis lower occipital region
Diagnosis/Initial	Raine syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	RNS
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-02-07 11:39:32 +01:00 (CET)
Date last edited	N/A

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