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)

Global Variome shared LOVD