Phenotype #0000305302

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413320
Associated disease	?
Diagnosis/Initial	delayed psychomotor, speech development and moderate degree of intellectual disability
Diagnosis/Definite	NEDMIGS
Phenotype details	see paper; ..., physical examination performed at 8 years of age showed hypotonia, a disturbing aggressive behavioral phenotype and mild facial dysmorphia. He had the first epileptic seizure at the age of 5 years, but the NMR of the brain was normal.
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Rafał Płoski
Database submission license
Created by	Rafał Płoski
Date created	2022-07-15 01:21:55 +02:00 (CEST)
Date last edited	2025-07-23 10:30:01 +02:00 (CEST)