Overview
16p13.2 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.
Brain imaging abnormality
Very frequent (80-99%)HP:0410263
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Apraxia
Frequent (30-79%)HP:0002186
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Bronchial asthma
Frequent (30-79%)HP:0002099
Central hypotonia
Frequent (30-79%)HP:0001252
Cerebral white matter atrophy
Frequent (30-79%)HP:0012762
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Chronic constipation
Frequent (30-79%)HP:0012450
Congenital hypotonia
Frequent (30-79%)HP:0001319
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Decreased body height
Frequent (30-79%)HP:0004322
Dilated third ventricle
Frequent (30-79%)HP:0007082
Epilepsy
Frequent (30-79%)HP:0001250
Esotropia
Frequent (30-79%)HP:0000565
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gait disturbance
Frequent (30-79%)HP:0001288
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Mental deficiency
Frequent (30-79%)HP:0001249
physical aggression
Frequent (30-79%)HP:0000718
Poor weight gain
Frequent (30-79%)HP:0001508
Premature adrenarche
Frequent (30-79%)HP:0012412
Abnormal temper tantrums
Occasional (5-29%)HP:0025160
Bilateral fifth digit clinodactyly
Occasional (5-29%)HP:0004209
Chronic diarrhoea
Occasional (5-29%)HP:0002028
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased size of cranium
Occasional (5-29%)HP:0000252
Delayed closure of the fontanelles
Occasional (5-29%)HP:0000270
Quick Facts
- SNOMED CT
- 1228890005
- UMLS CUI
- C5680086
- Fully Specified Name
- Hao Fountain syndrome due to 16p13.2 microdeletion (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.