Phenotype #0000045718

Individual ID 00059211
Associated disease KTZS
Phenotype details seizure onset: 1st day; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; teeth cylindrical shape, sharp and thin incisal edges with brown discoloration, smooth/hard tooth surface, cylindric, yellow-brown
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset 00y01m
Phenotype/Onset -
Age/Examination -
Protein -
Owner name Elisabeth Maurer
Database submission license No license selected
Created by Elisabeth Maurer
Date created 2016-03-03 11:10:57 +01:00 (CET)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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