Global Variome shared LOVD

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Phenotype #0000170737 Individual ID 00225621 Associated disease SPG Phenotype details Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability severe (HP:0010864); Lower limb muscle weakness (HP:0007340); Spastic paraplegia (HP:0001258); Hyperreflexia (HP:0001347); Dysarthria (HP:0001260); Seizures (HP:0001250); Microcephaly (HP:0000252); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Inguinal hernia (HP:0000023); Recurrent otitis media (HP:0000403) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Complicated hereditary spastic paraplegia Age/Examination - Age/Diagnosis 28y Age/Onset 00y03m Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-02-19 11:59:35 +01:00 (CET) Date last edited 2020-05-19 09:29:32 +02:00 (CEST)

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