RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome

disorder

SNOMED 783099001CUI C2677792

Overview

RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased serum IgG

Very frequent (80-99%)HP:0004315

Immune deficiency

Very frequent (80-99%)HP:0002721

Low levels of immunoglobulin A

Very frequent (80-99%)HP:0002720

Radiation-induced chromosome instability

Very frequent (80-99%)HP:0010997

Serum alpha-fetoprotein increased

Very frequent (80-99%)HP:0006254

Bronchitis

Frequent (30-79%)HP:0012387

Intermittent fever

Frequent (30-79%)HP:0001954

Malformation of face

Frequent (30-79%)HP:0001999

Pneumonia

Frequent (30-79%)HP:0002090

pulmonary infections, recurrent

Frequent (30-79%)HP:0006532

Recurrent sinus infections

Frequent (30-79%)HP:0011108

Sinusitis, chronic

Frequent (30-79%)HP:0011109

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal lung parenchyma morphology

Occasional (5-29%)HP:0006530

Arthritis

Occasional (5-29%)HP:0001369

Ataxia

Occasional (5-29%)HP:0001251

Clumsiness

Occasional (5-29%)HP:0002312

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Decreased circulating total IgM

Occasional (5-29%)HP:0002850

Decreased size of cranium

Occasional (5-29%)HP:0000252

Demyelinating peripheral neuropathy

Occasional (5-29%)HP:0007108

Diarrhea

Occasional (5-29%)HP:0002014

Emotional lability

Occasional (5-29%)HP:0000712

Enuresis nocturna

Occasional (5-29%)HP:0010677

Erythema

Occasional (5-29%)HP:0010783

Gait disturbance

Occasional (5-29%)HP:0001288

Generalized lymphadenopathy

Occasional (5-29%)HP:0008940

Headache

Occasional (5-29%)HP:0002315

Intraventricular hemorrhage

Occasional (5-29%)HP:0030746

Related Conditions

Combined immunodeficiency disease(parent)

Congenital immunodeficiency disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 783099001
UMLS CUI: C2677792
Fully Specified Name: Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (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.