Phenotype #0000244973

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326505
Associated disease	-
Phenotype details	HP:0002500 HP:0000486 HP:0002307 HP:0001339 HP:0000316
Diagnosis/Initial	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Age/Examination	02y? (approximately 2 years)
Age/Diagnosis	02y?
Age/Onset	?
Phenotype/Onset	HP:0002500, HP:0000486, HP:0002307, HP:0001339, HP:0000316
Protein	PLAA
Owner name	Ehsan Razmara
Database submission license	No license selected
Created by	Ehsan Razmara
Date created	2021-01-13 08:25:20 +01:00 (CET)
Date last edited	2021-01-13 11:03:54 +01:00 (CET)