Global Variome shared LOVD

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

Phenotype #0000045717 Individual ID 00059210 Associated disease KTZS Phenotype details seizure onset: 2 month; Neurological findings:pyramidal signs of the legs, cerebellar ataxia; Intellectual disability, severe (HP:0010864); primary molars lack enamel and have a yellow surface, opaque enamel of incisors, smooth surface Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset - Age/Examination - Protein - Owner name Elisabeth Maurer Database submission license No license selected Created by Elisabeth Maurer Date created 2016-03-03 11:03:56 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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