Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Multicystic kidney dysplasia
Very frequent (80-99%)HP:0000003
Decreased body height
Frequent (30-79%)HP:0004322
Diabetes mellitus
Frequent (30-79%)HP:0000819
Abnormal liver function tests
Occasional (5-29%)HP:0002910
Autism
Occasional (5-29%)HP:0000717
Cryptorchidism
Occasional (5-29%)HP:0000028
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties
Occasional (5-29%)HP:0011968
Hearing impairment
Occasional (5-29%)HP:0000365
Language impairment
Occasional (5-29%)HP:0002463
Large, late-closing fontanelle
Occasional (5-29%)HP:0000239
Mental and motor retardation
Occasional (5-29%)HP:0001263
Mental deficiency
Occasional (5-29%)HP:0001249
Oligohydramnios
Occasional (5-29%)HP:0001562
Pancreatic aplasia
Occasional (5-29%)HP:0100801
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
Renal insufficiency
Occasional (5-29%)HP:0000083
Shawl scrotum
Occasional (5-29%)HP:0000049
Subcortical cerebral atrophy
Occasional (5-29%)HP:0012157
Supratentorial atrophy
Occasional (5-29%)HP:0002059
Ureterocele
Occasional (5-29%)HP:0000070
Quick Facts
- SNOMED CT
- 733519008
- UMLS CUI
- C4518822
- Fully Specified Name
- 17q12 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.