Phenotype #0000180269

Individual ID	00240115
Associated disease	SCAR
Phenotype details	SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; respiratory distress (BIPAP all day), mental retardation (IQ=60), hypertelorism, CK elevation, pes cavus, hyperlaxity, Achilles tendon contractures; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute and chronic neurogenic
Diagnosis/Initial	cerebellar ataxia plus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SCAR-8
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	6y
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