Phenotype #0000073517

Individual ID 00095123
Associated disease neuropathy (CCT5)
Phenotype details tiptoe walking (HP0030051)spasticity of lower limbs (HP0002061)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)absent achilles reflex (HP0003438)no plantar tendon reflex (-HP:0003487)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 02y
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 2016-09-22 13:09:05 +02:00 (CEST)
Date last edited 2016-09-23 19:11:34 +02:00 (CEST)

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