Phenotype #0000000815

Individual ID 00001661
Associated disease KTZS
Phenotype details uneventful pregnancy, birth, and newborn period, profound intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; not ambulant; no expressive language; amelogenesis imperfecta
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Age/Examination 24y (24 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 2012-07-03 17:12:52 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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