Phenotype #0000132929

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00168063
Associated disease	SPDRS
Phenotype details	see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation
Diagnosis/Initial	salt & pepper syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPDRS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-07-18 21:58:09 +02:00 (CEST)
Date last edited	N/A

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