Phenotype #0000000834

Individual ID 00001680
Associated disease KTZS
Phenotype details uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, psychomotor regression after age 13 months; admin; MRI brain normal; total loss of speech and social contact; yellow teeth, prone to crumble
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 15:34:36 +02:00 (CEST)
Date last edited 2020-11-27 17:43:21 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.