Phenotype #0000025740

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00029776
Associated disease	AOS
Phenotype details	scalp defect; TTLD of hands and feet; periventricular lesions (calcification, gliosis); pachygyria; optic atrophy; seizures / epilepsy;
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	02y00m (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Maja Sukalo
Database submission license	No license selected
Created by	Maja Sukalo
Date created	2015-01-28 17:29:20 +01:00 (CET)
Date last edited	2015-02-07 16:02:48 +01:00 (CET)

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