Phenotype #0000321844

Individual ID 00431239
Associated disease SPG
Phenotype details still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; visually evoked potentials normal; MRI normal
Diagnosis/Initial spastic paraplegia
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPG85
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset 2y
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 2023-02-04 20:45:33 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.