Phenotype #0000145711

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00185580
Associated disease	L2HGA
Phenotype details	walk 30m; developmental delay; no epilepsy; cereballar ataxia; macrocephaly; extrapyramidal signs; no behavioral problems; loss of milestones
Diagnosis/Initial	L2HGA
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	L2HGA
Age/Examination	-
Age/Diagnosis	-
Age/Onset	18m
Phenotype/Onset	-
Protein	-
Owner name	Gajja Salomons
Database submission license	No license selected
Created by	Gajja Salomons
Date created	2016-01-05 14:59:57 +01:00 (CET)
Date last edited	N/A

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