Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000025754 Individual ID 00029772 Associated disease AOS Phenotype details scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; periventricular lesions (calcification, gliosis); microcephaly; optic atrophy; severe ID; seizures / epilepsy; cerebral palsy / spasticity Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y11m (11 months) 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 16:10:42 +01:00 (CET) Date last edited 2015-02-07 16:02:48 +01:00 (CET)

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