Phenotype #0000180471

Individual ID 00240407
Associated disease DD
Phenotype details developmental regression after typical development until 18m, manifesting with loss of milestones including head control
and speech; 21m-tremors; 22m-seizures; occasional myoclonus; brother 5y onset 13m ataxia, autism, developmental delay, recurrent febrile seizures, absent speech
Diagnosis/Initial developmental delay
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-06-19 19:14:53 +02:00 (CEST)
Date last edited N/A

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