Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome

disorder

SNOMED 1187465008CUI C5568978

Overview

Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome 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.

Hoffmann's sign

Very frequent (80-99%)HP:0031993

Lower limb hyperreflexia

Very frequent (80-99%)HP:0002395

Spastic walk

Very frequent (80-99%)HP:0002064

Upper limb hyperreflexia

Very frequent (80-99%)HP:0007350

Weakness of outermost muscles

Very frequent (80-99%)HP:0002460

Abnormality of pain sensation

Frequent (30-79%)HP:0010832

Cavus foot

Frequent (30-79%)HP:0001761

Corticospinal signs

Frequent (30-79%)HP:0007256

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Extensor plantar responses

Frequent (30-79%)HP:0003487

Lower limb hypertonia

Frequent (30-79%)HP:0006895

Peripheral motor neuropathy

Frequent (30-79%)HP:0007178

Abnormal retropulsion test

Occasional (5-29%)HP:0002172

Abnormality of the dorsal column of the spinal cord

Occasional (5-29%)HP:0011397

Atrophy of the corpus callosum

Occasional (5-29%)HP:0007371

Cataract, congenital

Occasional (5-29%)HP:0000519

Cerebellar abnormality

Occasional (5-29%)HP:0001317

Constant urination

Occasional (5-29%)HP:0100515

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Epilepsy

Occasional (5-29%)HP:0001250

Falls

Occasional (5-29%)HP:0002527

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Impaired vibratory sensation

Occasional (5-29%)HP:0002495

Inability to coordinate movements when walking

Occasional (5-29%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Large cisterna magna

Occasional (5-29%)HP:0002280

Lens opacities

Occasional (5-29%)HP:0000518

Loss of articulate speech

Occasional (5-29%)HP:0002425

Low back pain

Occasional (5-29%)HP:0003419

Related Conditions

Autosomal dominant complex hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 1187465008
UMLS CUI: C5568978
Fully Specified Name: Autosomal dominant spastic paraplegia type 9A (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.