Ataxia, photosensitivity, short stature syndrome

disorder

SNOMED 773769008CUI C4751230

Overview

Ataxia, photosensitivity, short stature 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.

Abnormality of movement

Very frequent (80-99%)HP:0100022

Ataxia

Very frequent (80-99%)HP:0001251

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Cognitive deficits

Very frequent (80-99%)HP:0100543

Curvature of little finger

Very frequent (80-99%)HP:0004209

Cutaneous photosensitivity

Very frequent (80-99%)HP:0000992

Decreased body height

Very frequent (80-99%)HP:0004322

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Dry skin

Very frequent (80-99%)HP:0000958

High arched palate

Very frequent (80-99%)HP:0000218

Hives

Very frequent (80-99%)HP:0001025

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Gait disturbance

Frequent (30-79%)HP:0001288

Outward turned elbows

Frequent (30-79%)HP:0002967

Squint

Frequent (30-79%)HP:0000486

Tooth abnormalities

Frequent (30-79%)HP:0000164

Related Conditions

Small stature(parent)

Multiple system malformation syndrome(parent)

Radiation-induced dermatosis(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773769008
UMLS CUI: C4751230
Fully Specified Name: Ataxia, photosensitivity, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.