Phenotype #0000073527

Individual ID 00095132
Associated disease neuropathy (CCT5)
Phenotype details Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 04y
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 12:41:04 +02:00 (CEST)
Date last edited 2017-01-06 14:42:37 +01:00 (CET)

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