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
Created by	Johan den Dunnen
Date created	2021-04-15 11:18:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD