Phenotype #0000073529

Individual ID	00095134
Associated disease	SPAX2;SPG58
Phenotype details	Short stature (HP:0004322), Decreased head circumference (HP:0040195), Intention tremor (HP:0002080), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Poor fine motor coordination (HP:0007010), Spasticity (HP:0001257), Toe walking (HP:0040083), Dysarthria (HP:0001260), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	02y06m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-09-23 20:01:30 +02:00 (CEST)
Date last edited	2016-09-27 09:08:52 +02:00 (CEST)

Global Variome shared LOVD