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17q24.2 microdeletion syndrome

disorder
SNOMED 1229873009CUI C5680185

Overview

17q24.2 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.

Mental retardation, mild
Very frequent (80-99%)HP:0001256
Speech delay
Very frequent (80-99%)HP:0000750
Truncal obesity
Very frequent (80-99%)HP:0001956
Abnormality of the ankle
Frequent (30-79%)HP:0003028
Abnormality of the wrist
Frequent (30-79%)HP:0003019
Anxiety disease
Frequent (30-79%)HP:0000739
Behavioral symptoms
Frequent (30-79%)HP:0000708
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Broad neck
Frequent (30-79%)HP:0000475
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Deep set eye
Frequent (30-79%)HP:0000490
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Epilepsy
Frequent (30-79%)HP:0001250
Eye drop
Frequent (30-79%)HP:0000508
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Feeding difficulties
Frequent (30-79%)HP:0011968
Generalized low muscle tone in neonate
Frequent (30-79%)HP:0008935
Hypoplasia involving bones of the upper limbs
Frequent (30-79%)HP:0009824
Hypotrophic midface
Frequent (30-79%)HP:0011800
Impaired visuospatial constructive cognition
Frequent (30-79%)HP:0010794
Increased distance between eyes
Frequent (30-79%)HP:0000316
Inverted triangular face
Frequent (30-79%)HP:0000325
Microtia
Frequent (30-79%)HP:0008551
Misalignment of teeth
Frequent (30-79%)HP:0000692
Near sighted
Frequent (30-79%)HP:0000545
Outward turned elbows
Frequent (30-79%)HP:0002967
Progressive conductive hearing impairment
Frequent (30-79%)HP:0008607

Related Conditions

Developmental delay(parent)
Deletion of part of long arm of chromosome 17(parent)
Multiple system malformation syndrome(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1229873009
UMLS CUI
C5680185
Fully Specified Name
17q24.2 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.