Global Variome shared LOVD

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Phenotype #0000045716 Individual ID 00059209 Associated disease KTZS Phenotype details seizure onset: 1st day; Neurological findings: spastic diplegia, pyramidal signs of the legs, cerebellar ataxia, strabismus; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible on primary and secondary teeth; MRI brain normal; hypoplastic enamel of prim/secondary teeth, sharp-thin lower permanent incisors, worn primary molars 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 10:55:40 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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