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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
Breath-holding spell
Always present (100%)HP:6000950
Broad foot
Always present (100%)HP:0001769
Cognitive delay
Always present (100%)HP:0001263
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
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
Large nose
Always present (100%)HP:0000448
Low intelligence
Always present (100%)HP:0001249
Medially flared eyebrows
Always present (100%)HP:0010747
Nonverbal
Always present (100%)HP:0001344
Partial unilateral facial paresis
Always present (100%)HP:0011333
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 delay
Always present (100%)HP:0000750
Syncope
Always present (100%)HP:0001279
Temperature instability
Always present (100%)HP:0005968
Aggression
Frequent (30-79%)HP:0000718
Attached earlobe
Frequent (30-79%)HP:0009907
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Chronic constipation
Frequent (30-79%)HP:0012450
Decreased height of philtrum
Frequent (30-79%)HP:0000322

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.