Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

disorder

SNOMED 1186734006CUI C5568576

Overview

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 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.

Ankle clonus

Always present (100%)HP:0011448

Breathy speech

Always present (100%)HP:0008376

Decreased size of cranium

Always present (100%)HP:0000252

Delayed gross motor development

Always present (100%)HP:0002194

Lower limb hyperreflexia

Always present (100%)HP:0002395

Progressive spastic paraparesis

Always present (100%)HP:0007199

Progressive spastic paraplegia

Always present (100%)HP:0007020

RPE irregularity

Always present (100%)HP:0007814

Short stature, moderate

Always present (100%)HP:0008848

Spasticity, progressive

Always present (100%)HP:0002191

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased visual acuity

Frequent (30-79%)HP:0007663

Demyelinating motor neuropathy

Frequent (30-79%)HP:0007220

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hyporeflective spaces on macular OCT

Frequent (30-79%)HP:0030625

Mental retardation, mild

Frequent (30-79%)HP:0001256

Seizures

Frequent (30-79%)HP:0001250

Tortuosity of main retinal vessels

Frequent (30-79%)HP:0007768

Uvula bifida

Frequent (30-79%)HP:0000193

Functional motor deficit

Occasional (5-29%)HP:0004302

Tetraplegia/tetraparesis

Occasional (5-29%)HP:0030182

Upper motor neuron dysfunction

Occasional (5-29%)HP:0002493

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Disorder of lipid metabolism(parent)

Developmental hereditary disorder(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Chronic metabolic disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1186734006
UMLS CUI: C5568576
Fully Specified Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.