Phenotype #0000045724

Individual ID 00059217
Associated disease KTZS
Phenotype details seizure onset: 1st day, neurological findings: marked hypotonia, marked developmental delay; MRI-brain atrophy of left hemisphere, bilateral changes in globus pallidus, probably postictal; teeth opaque enamel of incisors, smooth surface, worn primary molars, cylindric shape, 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 12:58:09 +01:00 (CET)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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