Phenotype #0000045716

Individual ID 00059209
Associated disease KTZS
Phenotype details seizure onset: 1st day; Neurological findings: spastic diplegia, pyramidal signs of the legs, cerebellar ataxia, strabismus; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible on primary and secondary teeth; MRI brain normal; hypoplastic enamel of prim/secondary teeth, sharp-thin lower permanent incisors, worn primary molars
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 10:55:40 +01:00 (CET)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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