Global Variome shared LOVD

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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 International 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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