Phenotype #0000000812

Individual ID 00001658
Associated disease KTZS
Phenotype details initial development normal, uneventful pregnancy, birth, and newborn period, sit and walk without support at age 9-10 months and 30 months; normal at age 18y, MRI-brain atrophy, hypoplasia of cerebellar vermis; feeds himself, fine motor problems; talks in two-word sentences, friendly behaviour; primary and secondary teeth: brownish discoloration, rough surface
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Age/Examination 18y (18 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 15:59:34 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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