Autosomal recessive spastic paraplegia type 23

disorder

SNOMED 726608002CUI C0796019

Overview

Autosomal recessive spastic paraplegia type 23 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.

Extensor plantar responses

Always present (100%)HP:0003487

Hyperpigmentation in sun-exposed areas

Always present (100%)HP:0005586

Lower limb muscle weakness

Always present (100%)HP:0007340

Mental retardation, mild

Always present (100%)HP:0001256

Premature greying of body hair

Always present (100%)HP:0004771

Anal incontinence

Frequent (30-79%)HP:0002607

Blotchy loss of skin colour

Frequent (30-79%)HP:0001045

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Faecal urgency

Frequent (30-79%)HP:0012701

Increased reflexes

Frequent (30-79%)HP:0001347

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Loss of ambulation

Frequent (30-79%)HP:0002505

Multiple lentigines

Frequent (30-79%)HP:0001003

Retrognathia

Frequent (30-79%)HP:0000278

Spastic paraplegia

Frequent (30-79%)HP:0001258

Spastic walk

Frequent (30-79%)HP:0002064

Waddling gait

Frequent (30-79%)HP:0002515

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased body height

Occasional (5-29%)HP:0004322

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Epilepsy

Occasional (5-29%)HP:0001250

Horseshoe kidney

Occasional (5-29%)HP:0000085

Neuropathy

Occasional (5-29%)HP:0009830

Scapula alata

Occasional (5-29%)HP:0003691

Silver-gray hair

Occasional (5-29%)HP:0002218

Thin face

HP:0000275

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 726608002
UMLS CUI: C0796019
Fully Specified Name: Autosomal recessive spastic paraplegia type 23 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.