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21q22.11q22.12 microdeletion syndrome

disorder
SNOMED 787171006CUI C5192593

Overview

21q22.11q22.12 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.

Low platelet count
Very frequent (80-99%)HP:0001873
Behavioral changes
Frequent (30-79%)HP:0000708
Brachydactyly
Frequent (30-79%)HP:0001156
Bulbous nose
Frequent (30-79%)HP:0000414
Camptodactyly
Frequent (30-79%)HP:0012385
Curvature of digit
Frequent (30-79%)HP:0030084
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Epilepsy
Frequent (30-79%)HP:0001250
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Growth delay as children
Frequent (30-79%)HP:0008897
Internal-clock disorders
Frequent (30-79%)HP:0006979
Malformation of face
Frequent (30-79%)HP:0001999
No speech development
Frequent (30-79%)HP:0001344
Poor school performance
Frequent (30-79%)HP:0001249
Severe psychomotor retardation
Frequent (30-79%)HP:0011344
Small nail
Frequent (30-79%)HP:0001792
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Acromesomelia
Occasional (5-29%)HP:0003086
Almond shaped eyes
Occasional (5-29%)HP:0007874
Atria septal defect
Occasional (5-29%)HP:0001631
Autoagression
Occasional (5-29%)HP:0100716
Bruxism
Occasional (5-29%)HP:0003763
Cone-shaped epiphyses of the fingers
Occasional (5-29%)HP:0010230
Dark circles under the eyes
Occasional (5-29%)HP:0001106
Decreased projection of midface
Occasional (5-29%)HP:0011800
Decreased volume of upper lip
Occasional (5-29%)HP:0000219
Difficulty speaking
Occasional (5-29%)HP:0002465

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)
Small stature(parent)
21q partial monosomy syndrome(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
787171006
UMLS CUI
C5192593
Fully Specified Name
21q22.11q22.12 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.