Phenotype #0000034650

Individual ID 00047286
Associated disease KTZS
Phenotype details unremarkable prenatal history, normal birth parameters, motor and cognitive developmental delay, normal head circumference, strabism, seizures; MRI brain cerebellar atrophy (HP:0001272); amelogenesis imperfecta, yellow-brown teeth
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset 01y
Phenotype/Onset -
Age/Examination 13y (13 years)
Protein -
Owner name Human Genetics Medical University Innsbruck
Database submission license No license selected
Created by Human Genetics Medical University Innsbruck
Date created 2015-08-12 14:44:38 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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