Phenotype #0000170744

Individual ID	00225632
Associated disease	SPG
Phenotype details	Microcephaly (HP:0000252); Cerebellar atrophy (HP:0001272); Lower limb spasticity (HP:0002061); Ataxia (HP:0001251); Babinski sign (HP:0003487); Intellectual disability, mild (HP:0001256); Spastic paraplegia (HP:0001258); Lower limb muscle weakness (HP:0007340); Hyperreflexia (HP:0001347); Impaired vibration sensation in the lower limbs (HP:0002166); Behavioral abnormality (HP:0000708); Developmental regression (HP:0002376); Horizontal nystagmus (HP:0000666); Encephalopathy(HP:0001298); Syndactyly (HP:0001159); Hyperlordosis (HP:0003307); Equinovarus deformity (HP:0008110); Limited pronation/supination of forearm (HP:0006394); Abnormality of the cerebral white matter (HP:0002500); Acute mental change
Diagnosis/Initial	Lysosomal storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SPG
Age/Examination	-
Age/Diagnosis	14y
Age/Onset	01y
Phenotype/Onset	Hereditary Spastic Paraplegia (ORPHA:685)
Protein	-
Owner name	Thomas Foulonneau
Database submission license	No license selected
Created by	Thomas Foulonneau
Date created	2019-02-21 10:26:02 +01:00 (CET)
Date last edited	2020-05-07 11:38:57 +02:00 (CEST)

Global Variome shared LOVD