Phenotype #0000207627

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00269836
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., microcephaly (0 SD birth, -5.5 SD 1y6m), signs of cerebral palsy, no speech, nonambulant; focal seizures; severe brain atrophy
Age/Examination	01y06m (1 year, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-07 13:20:49 +01:00 (CET)
Date last edited	2019-12-07 14:31:58 +01:00 (CET)

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