Phenotype #0000257462

Individual ID 00362049
Associated disease ?
Diagnosis/Initial developmental delay, hypermobile, ataxia
Diagnosis/Definite -
Phenotype details developmental delay, hypermobile, ataxia; normal stature, weight 75th percentile, height 50th–70th percentile; hypertelorism; gait ataxia; truncal ataxia , but not prominent; hypotonia; mild dysarthria; no seizures, EEG normal; microcephaly (50th–75th percentile); high pain threshold; no nystagmus; slow eye movements; no jerky eye movements; strabismus; 9m-sit; 19m-stand; 24m-walk; 20 months; mild speech delay; mainstream school; mild emotional and behavioral difficulties and attention deficit; MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination 7y (7 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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