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11q22.2q22.3 microdeletion syndrome

disorder
SNOMED 1229882003CUI C5680062

Overview

11q22.2q22.3 microdeletion 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.

Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Abnormal social interactions
Occasional (5-29%)HP:0012433
Autism with high cognitive abilities
Occasional (5-29%)HP:0000753
Bilateral single transverse palmar creases
Occasional (5-29%)HP:0007598
Brachydactyly
Occasional (5-29%)HP:0001156
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Delay in head control
Occasional (5-29%)HP:0002421
Delayed gross motor development
Occasional (5-29%)HP:0002194
Delayed myelination
Occasional (5-29%)HP:0012448
Depressed nasal root/bridge
Occasional (5-29%)HP:0005280
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Disproportionately small hands
Occasional (5-29%)HP:0200055
Drooling
Occasional (5-29%)HP:0002307
Epidermal thickening
Occasional (5-29%)HP:0011368
Epilepsy
Occasional (5-29%)HP:0001250
Eyelid ptosis
Occasional (5-29%)HP:0000508
Feeding difficulties
Occasional (5-29%)HP:0011968
Hemangiomata
Occasional (5-29%)HP:0001028
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Low-set ears
Occasional (5-29%)HP:0000369
Melanoderma
Occasional (5-29%)HP:0000953
Mental retardation, mild
Occasional (5-29%)HP:0001256
Narrow forehead
Occasional (5-29%)HP:0000341
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Near sighted
Occasional (5-29%)HP:0000545
Neurodevelopmental delay
Occasional (5-29%)HP:0012758

Related Conditions

Intellectual disability(parent)
Small stature(parent)
Developmental delay(parent)
11q partial monosomy syndrome(parent)
Multiple malformation syndrome with facial defects as major feature(parent)

Quick Facts

SNOMED CT
1229882003
UMLS CUI
C5680062
Fully Specified Name
11q22.2q22.3 microdeletion 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.