Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
No development of motor milestones
Always present (100%)HP:0001270
Sensorineural deafness
Always present (100%)HP:0000407
VSD
Always present (100%)HP:0001629
Abnormality of the cranial nerves
Very frequent (80-99%)HP:0001291
Absent/underdeveloped ear lobes
Very frequent (80-99%)HP:0009906
Cognitive delay
Very frequent (80-99%)HP:0001263
Cryptorchidism
Very frequent (80-99%)HP:0000028
Delayed puberty
Very frequent (80-99%)HP:0000823
Dysplastic ears
Very frequent (80-99%)HP:0000377
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Hearing impairment
Very frequent (80-99%)HP:0000365
Inner ear abnormality
Very frequent (80-99%)HP:0000359
Iris coloboma
Very frequent (80-99%)HP:0000612
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Lost smell
Very frequent (80-99%)HP:0000458
Notched pupil
Very frequent (80-99%)HP:0000589
Overfolded helix
Very frequent (80-99%)HP:0000396
Short penis
Very frequent (80-99%)HP:0000054
Small semicircular canal
Very frequent (80-99%)HP:0011382
Abnormal aortic valve morphology
Frequent (30-79%)HP:0001646
Abnormal morphology of female internal genitalia
Frequent (30-79%)HP:0000008
Abnormal soft palate morphology
Frequent (30-79%)HP:0100736
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Absence of eyeballs
Frequent (30-79%)HP:0000528
Absent semicircular canal
Frequent (30-79%)HP:0011381
Absent shinbone
Frequent (30-79%)HP:0009556
Anterior hypopituitarism
Frequent (30-79%)HP:0000830
Atresia of the pulmonary artery
Frequent (30-79%)HP:0004935
Autism
Frequent (30-79%)HP:0000717
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Related Conditions
Quick Facts
- SNOMED CT
- 47535005
- UMLS CUI
- C0265354
- Fully Specified Name
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities 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.