Phenotype #0000132930

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00168064
Associated disease	?
Diagnosis/Initial	Rett syndrome-like
Diagnosis/Definite	SPDRS
Phenotype details	see paper; ..., delayed speech, hand stereotypies with a loss of purposeful hand movements, choreoathetosis, no clinical seizures; microcephaly (1), other small head circumference (1)
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-07-18 22:14:27 +02:00 (CEST)
Date last edited	N/A

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