Overview
Distal 17p13.1 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.
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deformity of face
Frequent (30-79%)HP:0001999
Hypotonia, early
Frequent (30-79%)HP:0008947
Imbalance
Frequent (30-79%)HP:0002172
Inverted triangular face
Frequent (30-79%)HP:0000325
No development of motor milestones
Frequent (30-79%)HP:0001270
Overbite
Frequent (30-79%)HP:0011094
Prominent nasal root
Frequent (30-79%)HP:0000426
Psychomotor retardation, moderate
Frequent (30-79%)HP:0011343
Retrognathia
Frequent (30-79%)HP:0000278
Abnormal shape of hand
Occasional (5-29%)HP:0005922
Arachnodactyly
Occasional (5-29%)HP:0001166
EEG with spike-wave complexes
Occasional (5-29%)HP:0010850
Enophthalmos
Occasional (5-29%)HP:0000490
Flat back of skull
Occasional (5-29%)HP:0005469
Generalized joint laxity
Occasional (5-29%)HP:0002761
High arched palate
Occasional (5-29%)HP:0000218
Hypotrophic cheekbone
Occasional (5-29%)HP:0010669
Limited elbow movement
Occasional (5-29%)HP:0002996
Limited knee movement
Occasional (5-29%)HP:0010501
Narrow forehead
Occasional (5-29%)HP:0000341
Prominent ear
Occasional (5-29%)HP:0000411
Unilateral polymicrogyria
Occasional (5-29%)HP:0006927
Related Conditions
Quick Facts
- SNOMED CT
- 770629000
- UMLS CUI
- C4749349
- Fully Specified Name
- Distal 17p13.1 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.