Purine rich element binding protein A syndrome

disorder

SNOMED 768473009CUI C4708498

Overview

Purine rich element binding protein A 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.

Delayed fine motor development

Very frequent (80-99%)HP:0010862

Dull intelligence

Very frequent (80-99%)HP:0001249

Hypotonia, early

Very frequent (80-99%)HP:0008947

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Nonverbal

Very frequent (80-99%)HP:0001344

Wide based walk

Very frequent (80-99%)HP:0002136

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormality of vision

Frequent (30-79%)HP:0000504

Alveolar hypoventilation

Frequent (30-79%)HP:0002791

Apnea

Frequent (30-79%)HP:0002104

Breathing dysregulation

Frequent (30-79%)HP:0005957

Central sleep apnea

Frequent (30-79%)HP:0010536

Deficient in vitamin D

Frequent (30-79%)HP:0100512

Disconjugate eye movements

Frequent (30-79%)HP:0000549

Drooling

Frequent (30-79%)HP:0002307

Dyschezia

Frequent (30-79%)HP:0002019

Dyskinesia

Frequent (30-79%)HP:0100660

Dystonic movements

Frequent (30-79%)HP:0001332

Epilepsy

Frequent (30-79%)HP:0001250

Exaggerated acoustic startle response

Frequent (30-79%)HP:0002267

Excessive daytime somnolence

Frequent (30-79%)HP:0001262

Feeding difficulties

Frequent (30-79%)HP:0011968

Hiccups

Frequent (30-79%)HP:0100247

Hypothermia

Frequent (30-79%)HP:0002045

Inability to walk

Frequent (30-79%)HP:0002540

No development of motor milestones

Frequent (30-79%)HP:0001270

Obstructive sleep apnea

Frequent (30-79%)HP:0002870

Receptive language delay

Frequent (30-79%)HP:0010863

Stereotypical hand wringing

Frequent (30-79%)HP:0012171

Velvety skin texture

Frequent (30-79%)HP:0000977

Related Conditions

Seizure disorder(parent)

Global developmental delay(parent)

Neurodevelopmental disorder(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 768473009
UMLS CUI: C4708498
Fully Specified Name: Purine rich element binding protein A 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.