Phenotype #0000000832

Individual ID 00001678
Associated disease KTZS
Phenotype details uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, stagnation and thereafter slow progression of psychomotor development after seizure onset; 8y body weight and length significantly below 3rd percentile, head circumference: 25th percentile; MRI-brain 9y mild atrophy of the cerebellar vermis; lost ability to walk after development of spasticity, no conscious grasping; no active language; brownish discoloration of teeth, amelogenesis imperfecta
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Age/Examination 8y (8 years)
Protein -
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2012-10-23 14:54:23 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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