Phenotype #0000000810

Individual ID 00001656
Associated disease KTZS
Phenotype details developmental delay since birth, pregnancy: gestational diabetes and uneventful birth, walking without support at age 2.2 years; normal at age 9y; MRI-brain slight atrophy of cerebellar vermis; speech some simple words, deterioration of social interaction after onset of seizures.; 14m-eruption primary teeth, lusterless, rapid discoloration after eruption
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Age/Examination 09y (9 years)
Protein -
Owner name Human Genetics Medical University Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2012-05-16 15:55:13 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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