Phenotype #0000257467

Individual ID 00362054
Associated disease ?
Diagnosis/Initial hypotonia, gross motor delays
Diagnosis/Definite -
Phenotype details hypotonia, gross motor delays; no short stature; deep-set eyes, thick eyebrows,; gait ataxia; truncal ataxia; hypotonia; no dysarthria; intention tremor; no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8m-sit; 18m-walk; first word at 19 months; normal speech; mainstream school; attentional and mild behavioral challenges; MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-04-15 11:18:09 +02:00 (CEST)
Date last edited N/A

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