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9q33.3q34.11 microdeletion syndrome

disorder
SNOMED 1228886008CUI C5680085

Overview

9q33.3q34.11 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.

Abnormal morphology of the palpebral fissure
Very frequent (80-99%)HP:0200005
Bulbous nose
Very frequent (80-99%)HP:0000414
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Deglutition disorder
Very frequent (80-99%)HP:0002015
Dislocated patellae
Very frequent (80-99%)HP:0002999
Hypertrophy of cheeks
Very frequent (80-99%)HP:0000293
Large forehead
Very frequent (80-99%)HP:0002003
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Nail dysplasia
Very frequent (80-99%)HP:0002164
No development of motor milestones
Very frequent (80-99%)HP:0001270
Round, full face
Very frequent (80-99%)HP:0000311
Seizures
Very frequent (80-99%)HP:0001250
Speech difficulties
Very frequent (80-99%)HP:0000750
Truncal hypotonia
Very frequent (80-99%)HP:0008936
Wide chin
Very frequent (80-99%)HP:0011822
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Asymmetry of the posterior cranium
Frequent (30-79%)HP:0001357
Behavioral changes
Frequent (30-79%)HP:0000708
Bilateral coxa valga
Frequent (30-79%)HP:0010665
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dyschezia
Frequent (30-79%)HP:0002019
Fixed elbow flexion
Frequent (30-79%)HP:0006471
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Frequent nosebleeds
Frequent (30-79%)HP:0000421
Inability to walk
Frequent (30-79%)HP:0002540
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Narrow mouth
Frequent (30-79%)HP:0000160
Patellar hypoplasia
Frequent (30-79%)HP:0003065
Prominent frontal suture
Frequent (30-79%)HP:0005487
Reactive airway disease
Frequent (30-79%)HP:0002099

Related Conditions

Small stature(parent)
Developmental delay(parent)
9q partial monosomy syndrome(parent)
Multiple system malformation syndrome(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1228886008
UMLS CUI
C5680085
Fully Specified Name
9q33.3q34.11 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.