Autosomal recessive spastic paraplegia type 75

disorder

SNOMED 1187470001CUI C4225250

Overview

Autosomal recessive spastic paraplegia type 75 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Central hypotonia

Always present (100%)HP:0001252

Congenital hypotonia

Always present (100%)HP:0001319

Decreased distal vibration sense

Always present (100%)HP:0006886

Decreased visual acuity

Always present (100%)HP:0007663

Increased reflexes

Always present (100%)HP:0001347

Rigid dysarthria

Always present (100%)HP:0002464

Spastic paraparesis

Always present (100%)HP:0002313

Spastic walk

Always present (100%)HP:0002064

Abnormal finger chase test

Very frequent (80-99%)HP:0001310

Cognitive delay

Very frequent (80-99%)HP:0001263

Corticospinal signs

Very frequent (80-99%)HP:0007256

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Impaired vibratory sensation

Very frequent (80-99%)HP:0002495

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Lower limb muscle hypotrophy

Very frequent (80-99%)HP:0008944

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Glaucoma

Frequent (30-79%)HP:0000501

Hyperopia

Frequent (30-79%)HP:0000540

Hyporeflexia

Frequent (30-79%)HP:0001265

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Loss of ambulation

Frequent (30-79%)HP:0002505

Temporal optic disc pallor

Frequent (30-79%)HP:0012511

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Titubation

Occasional (5-29%)HP:0030187

Areflexia in lower limbs

HP:0002522

Atrophic cerebellum

HP:0001272

Atrophy of the corpus callosum

HP:0007371

Related Conditions

Autosomal recessive hereditary spastic paraplegia(parent)

Complicated hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 1187470001
UMLS CUI: C4225250
Fully Specified Name: Autosomal recessive spastic paraplegia type 75 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.