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

Hypotonia, early

Very frequent (80-99%)HP:0008947

Mental-retardation

Very frequent (80-99%)HP:0001249

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Nonverbal

Very frequent (80-99%)HP:0001344

Wide based walk

Very frequent (80-99%)HP:0002136

Abnormality of vision

Frequent (30-79%)HP:0000504

Apnea

Frequent (30-79%)HP:0002104

Breathing dysregulation

Frequent (30-79%)HP:0005957

Central sleep apnea

Frequent (30-79%)HP:0010536

Constipation

Frequent (30-79%)HP:0002019

Deficient in vitamin D

Frequent (30-79%)HP:0100512

Disconjugate eye movements

Frequent (30-79%)HP:0000549

Drooling

Frequent (30-79%)HP:0002307

Dyskinesia

Frequent (30-79%)HP:0100660

Dystonic disease

Frequent (30-79%)HP:0001332

Excessive daytime somnolence

Frequent (30-79%)HP:0001262

Eye disease

Frequent (30-79%)HP:0000478

Feeding difficulties

Frequent (30-79%)HP:0011968

Hiccups

Frequent (30-79%)HP:0100247

Hyperekplexia

Frequent (30-79%)HP:0002267

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

Respiratory depression

Frequent (30-79%)HP:0002791

Seizures

Frequent (30-79%)HP:0001250

Soft skin

Frequent (30-79%)HP:0000977

Stereotypical hand wringing

Frequent (30-79%)HP:0012171

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.