Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cat cry
Very frequent (80-99%)HP:0200046
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
High pitched voice
Very frequent (80-99%)HP:0001620
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retromicrognathia
Very frequent (80-99%)HP:0000308
Round, full face
Very frequent (80-99%)HP:0000311
Voice abnormality
Very frequent (80-99%)HP:0001608
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased body height
Frequent (30-79%)HP:0004322
Disproportionately small hands
Frequent (30-79%)HP:0200055
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
High arched palate
Frequent (30-79%)HP:0000218
Increased distance between eyes
Frequent (30-79%)HP:0000316
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Short neck
Frequent (30-79%)HP:0000470
Abnormality of bone mineral density
Occasional (5-29%)HP:0004348
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Increased fracture rate
Occasional (5-29%)HP:0002757
Inguinal hernia
Occasional (5-29%)HP:0000023
Loose-jointedness
Occasional (5-29%)HP:0001382
Partial syndactyly
Occasional (5-29%)HP:0006101
Skin tag on the posterior cheek
Occasional (5-29%)HP:0000384
Anterior open bite between upper and lower teeth
HP:0009102
Autism
HP:0000717
Cryptorchidism
HP:0000028
Quick Facts
- SNOMED CT
- 70173007
- UMLS CUI
- C0010314
- Fully Specified Name
- 5p partial monosomy 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.