Global Variome shared LOVD

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

Phenotype #0000045722 Individual ID 00059216 Associated disease KTZS Phenotype details seizure onset: 1,5 month; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; delay in tooth eruption; MRI brain normal; small secondary incisors-cylindric, sharp and thin incisal edges, smooth hard surface, cylindric, yellow-brown 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 12:49:03 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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