Global Variome shared LOVD

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

Phenotype #0000045715 Individual ID 00059208 Associated disease KTZS Phenotype details seizure onset: 1st day; Neurological findings: infantile hypotonia, later spasticity, ataxia, dystonic gait, strabismus ; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth small, cylindric, yellow-brown teeth, interdental spaces, smooth surface, worn secondary premolars/molars, cylindric, yellow-brown Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Age/Examination - Protein - Owner name Elisabeth Maurer Database submission license No license selected Created by Elisabeth Maurer Date created 2016-03-03 09:37:03 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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