Phenotype #0000045721

Individual ID 00059214
Associated disease KTZS
Phenotype details seizure onset: 1st day; Neurological findings: ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; mild-moderate speech delay (HP:0000750); teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide
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 11:38:18 +01:00 (CET)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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