Phenotype #0000180277

Individual ID	00240123
Associated disease	SCAR
Phenotype details	SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; dysfunction lower motor neuron; cognitive deficit (IQ=49), slow saccades, CK elevation, restrictive ventilatory defect, pes cavus; MRI cerebellar atrophy; peripheral neuropathy, motor axonal; EMG chronic neurogenic; MEOS abnormal upper and lower limb
Diagnosis/Initial	cerebellar ataxia plus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCAR-8
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	10y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-11 13:42:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD