Overview
6q terminal deletion 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.
Abnormality of neuronal migration
Very frequent (80-99%)HP:0002269
Abnormality of the cerebral cortex
Very frequent (80-99%)HP:0002538
Colpocephaly
Very frequent (80-99%)HP:0030048
Cortical white matter abnormalities seen on MRI
Very frequent (80-99%)HP:0002500
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Deformity of face
Very frequent (80-99%)HP:0001999
Heterotopias
Very frequent (80-99%)HP:0002282
Hypoplasia of corpus callosum
Very frequent (80-99%)HP:0002079
Hypotonia, early
Very frequent (80-99%)HP:0008947
Hypsarrhythmia by EEG
Very frequent (80-99%)HP:0002521
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Low anterior hairline
Very frequent (80-99%)HP:0000294
Mental retardation, mild
Very frequent (80-99%)HP:0001256
More grooves in brain
Very frequent (80-99%)HP:0002126
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Periventricular grey matter heterotopia
Very frequent (80-99%)HP:0007165
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Seizures
Very frequent (80-99%)HP:0001250
Small cerebellum
Very frequent (80-99%)HP:0001321
Speech delay
Very frequent (80-99%)HP:0000750
Squint
Very frequent (80-99%)HP:0000486
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormal finger-nose-finger test
Frequent (30-79%)HP:0001310
Hyperopia
Frequent (30-79%)HP:0000540
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Prominent lips
Frequent (30-79%)HP:0012471
Absent/underdeveloped ribs
Occasional (5-29%)HP:0006712
Related Conditions
Quick Facts
- SNOMED CT
- 719666002
- UMLS CUI
- C4304514
- Fully Specified Name
- 6q terminal deletion 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.