Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability

disorder

SNOMED 765434008CUI C4707429

Overview

Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability 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.

Bleeding gums

Always present (100%)HP:0000225

Body temperature instability

Always present (100%)HP:0005968

Breath-holding spell

Always present (100%)HP:6000950

Broad foot

Always present (100%)HP:0001769

Compensatory head posture

Always present (100%)HP:0031705

Complex partial seizures

Always present (100%)HP:0002384

Deglutition disorder

Always present (100%)HP:0002015

Delayed ability to walk

Always present (100%)HP:0031936

Finger joint hypermobility

Always present (100%)HP:0006094

Hypoplasia of depressor angula oris muscle

Always present (100%)HP:0011333

Inability to coordinate movements when walking

Always present (100%)HP:0002066

Increased distance between eyes

Always present (100%)HP:0000316

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Medially flared eyebrows

Always present (100%)HP:0010747

Nasal hypertrophy

Always present (100%)HP:0000448

No speech development

Always present (100%)HP:0001344

Poor school performance

Always present (100%)HP:0001249

Psychomotor development deficiency

Always present (100%)HP:0001263

Recurrent inflammation of tonsils

Always present (100%)HP:0011110

Retromicrognathia

Always present (100%)HP:0000308

Short stature, moderate

Always present (100%)HP:0008848

Short toes

Always present (100%)HP:0001831

Small chin

Always present (100%)HP:0000331

Speech difficulties

Always present (100%)HP:0000750

Syncope

Always present (100%)HP:0001279

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Attached earlobe

Frequent (30-79%)HP:0009907

Central hypotonia

Frequent (30-79%)HP:0001252

Chronic constipation

Frequent (30-79%)HP:0012450

Decreased fetal movement

Frequent (30-79%)HP:0001558

Related Conditions

Multiple system malformation syndrome(parent)

Congenital anomaly of nervous system(parent)

Autosomal dominant hereditary disorder(parent)

Genetic intellectual disability(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 765434008
UMLS CUI: C4707429
Fully Specified Name: Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (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.