Hereditary persistence of fetal hemoglobin, intellectual disability syndrome

disorder

SNOMED 1360079000CUI C4310833

Overview

Hereditary persistence of fetal hemoglobin, intellectual disability 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.

Cognitive delay

Always present (100%)HP:0001263

Delayed ability to walk

Always present (100%)HP:0031936

Low intelligence

Always present (100%)HP:0001249

Persistence of haemoglobin F

Always present (100%)HP:0011904

Squint

Always present (100%)HP:0000486

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Ligamentous laxity

Very frequent (80-99%)HP:0001382

ASD

Frequent (30-79%)HP:0000729

Bulbous tip of nose

Frequent (30-79%)HP:0005274

Decreased size of cranium

Frequent (30-79%)HP:0000252

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Grey sclerae

Frequent (30-79%)HP:0000592

Hypotrophic midface

Frequent (30-79%)HP:0011800

Palpebronasal fold

Frequent (30-79%)HP:0000286

Protruding lower lip

Frequent (30-79%)HP:0000232

Trouble sleeping

Frequent (30-79%)HP:0002360

Anteriorly concave vertebrae

Occasional (5-29%)HP:0004611

Appendicular ataxia

Occasional (5-29%)HP:0002070

Autoagression

Occasional (5-29%)HP:0100716

Decreased body height

Occasional (5-29%)HP:0004322

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Instability or lack of coordination of central trunk muscles

Occasional (5-29%)HP:0002078

Nostrils anteverted

Occasional (5-29%)HP:0000463

Recurrent hand flapping

Occasional (5-29%)HP:0100023

Retrognathia

Occasional (5-29%)HP:0000278

Vermian atrophy

Occasional (5-29%)HP:0006855

Wide based walk

Occasional (5-29%)HP:0002136

Low-set ears

HP:0000369

Overfolded helix

HP:0000396

Simple, cup-shaped ears

HP:0000378

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hb F disease(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1360079000
UMLS CUI: C4310833
Fully Specified Name: Hereditary persistence of fetal hemoglobin, intellectual disability 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.