X-linked sideroblastic anemia with spinocerebellar ataxia

disorder

SNOMED 719816006CUI C1845028

Overview

X-linked sideroblastic anemia with spinocerebellar ataxia 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.

Abducens nerve paralysis

Always present (100%)HP:0006897

Abnormal basal ganglia MRI signal intensity

Always present (100%)HP:0012751

Abnormality of brainstem morphology

Always present (100%)HP:0002363

Abnormality of movement

Always present (100%)HP:0100022

Basal ganglia gliosis

Always present (100%)HP:0006999

Bone marrow hypercellularity

Always present (100%)HP:0031020

Cerebellar tremor

Always present (100%)HP:0002080

Clonus

Always present (100%)HP:0002169

Cognitive delay

Always present (100%)HP:0001263

Decreased body height

Always present (100%)HP:0004322

Dysphonia

Always present (100%)HP:0001618

Erythroid hyperplasia

Always present (100%)HP:0012132

Extensor plantar responses

Always present (100%)HP:0003487

Eye muscle paralysis

Always present (100%)HP:0000602

Gait disturbance

Always present (100%)HP:0001288

Howell-Jolly bodies

Always present (100%)HP:0032550

Interictal EEG abnormality

Always present (100%)HP:0025373

Jerking

Always present (100%)HP:0001336

Language impairment

Always present (100%)HP:0002463

Nonprogressive cerebellar ataxia

Always present (100%)HP:0002470

Paleness

Always present (100%)HP:0000980

Positive Romberg sign

Always present (100%)HP:0002403

Progressive dementia

Always present (100%)HP:0000726

Reduced tendon reflexes

Always present (100%)HP:0001315

Small cerebellum

Always present (100%)HP:0001321

Small for gestational age infant

Always present (100%)HP:0001511

Target cells

Always present (100%)HP:0034280

Weight loss

Always present (100%)HP:0001824

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Ataxia

Very frequent (80-99%)HP:0001251

Related Conditions

Spinocerebellar ataxia(parent)

X chromosome-linked sideroblastic anemia(parent)

Quick Facts

SNOMED CT: 719816006
UMLS CUI: C1845028
Fully Specified Name: X-linked sideroblastic anemia with spinocerebellar ataxia (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.