Phenotype #0000000835

Individual ID 00001681
Associated disease KTZS
Phenotype details uneventful pregnancy, birth, and newborn period, delayed psychomotor development since age 2 months, severe psychomotor disability; broad thumbs and toes; MRI-brain hypoplasia of cerebellar vermis, asymmetric dilatation of lateral ventricles; no active language; yellow teeth, hypoplastic enamel on dental radiographs
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Age/Examination -
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 16:00:56 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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