Phenotype #0000043861

Individual ID	00057180
Associated disease	CAMRQ1
Phenotype details	At 22 months of age, the patient showed global hypotonia, truncal ataxia, nystagmus, intentional tremor, dysmetria and motor delay. At age of 12 years mild dysarthria, moderate intellectual impairment and mild ataxia gait were present, nystagmus was absent and walking without support. MRI, performed at 3 and 9 years of age, showed marked but not progressive ponto-cerebellar hypoplasia associated to mild simplification of cortical gyration
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2016-01-14 19:30:37 +01:00 (CET)
Date last edited	2016-01-15 07:54:14 +01:00 (CET)

Global Variome shared LOVD