Overview
8p inverted duplication 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 chromosome segregation
Very frequent (80-99%)HP:0002916
Distortion of face
Very frequent (80-99%)HP:0001999
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Hypotonia, early
Very frequent (80-99%)HP:0008947
Large ears
Very frequent (80-99%)HP:0000400
Large mouth
Very frequent (80-99%)HP:0000154
Male pattern baldness
Very frequent (80-99%)HP:0002292
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Pectus excavatum
Very frequent (80-99%)HP:0000767
Protruding forehead
Very frequent (80-99%)HP:0011220
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Spastic quadriplegia
Very frequent (80-99%)HP:0002510
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Abnormality of the urinary system
Frequent (30-79%)HP:0000079
Absence of corpus callosum
Frequent (30-79%)HP:0001274
ASD
Frequent (30-79%)HP:0000729
Autism
Frequent (30-79%)HP:0000717
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cardiac anomaly
Frequent (30-79%)HP:0001627
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Eye disease
Frequent (30-79%)HP:0000478
Impulsivity
Frequent (30-79%)HP:0100710
Increased length of philtrum
Frequent (30-79%)HP:0000343
Long fingers
Frequent (30-79%)HP:0100807
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Related Conditions
Quick Facts
- SNOMED CT
- 718188007
- UMLS CUI
- C4273676
- Fully Specified Name
- 8p inverted duplication 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.