Global Variome shared LOVD

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Phenotype #0000073518 Individual ID 00095124 Associated disease neuropathy (CCT5) Phenotype details tiptoe walking (HP0030051)spasticity (HP0001257)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)increased deep tendon reflex in lower limbs (HP0002395)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 03y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-09-22 13:55:09 +02:00 (CEST) Date last edited 2016-09-23 19:13:41 +02:00 (CEST)

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