Phenotype #0000073530

Individual ID 00095135
Associated disease SPAX2;SPG58
Phenotype details Short stature (HP:0004322), Decreased head circumference (HP:0040195), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Unsteady gate (HP:0002317), Dysarthria (HP:0001260), Toe walking (HP:0040083), Spasticity (HP:0001257), 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-23 20:20:10 +02:00 (CEST)
Date last edited 2016-09-27 09:10:17 +02:00 (CEST)

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