Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged fetal lungs
Always present (100%)HP:6000613
Abnormality of the urinary system
Very frequent (80-99%)HP:0000079
Cryptophthalmos
Very frequent (80-99%)HP:0001126
Cutaneous syndactyly of digits
Very frequent (80-99%)HP:0012725
Legal blindness
Very frequent (80-99%)HP:0000618
Malformed lacrimal duct
Very frequent (80-99%)HP:0007993
Partial syndactyly
Very frequent (80-99%)HP:0006101
Renal hypoplasia/aplasia
Very frequent (80-99%)HP:0008678
Abnormal nasal morphology
Frequent (30-79%)HP:0005105
Abnormal vagina morphology
Frequent (30-79%)HP:0000142
Abnormality of the auricle
Frequent (30-79%)HP:0000356
Abnormality of the middle ear
Frequent (30-79%)HP:0000370
Abnormally closed or absent vagina
Frequent (30-79%)HP:0000148
Absence of eyeballs
Frequent (30-79%)HP:0000528
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Anal atresia
Frequent (30-79%)HP:0002023
Anorectal anomaly
Frequent (30-79%)HP:0012732
Bilobed tongue
Frequent (30-79%)HP:0010297
Cleft of palate
Frequent (30-79%)HP:0000175
Concave bridge of nose
Frequent (30-79%)HP:0005280
Dental crowding
Frequent (30-79%)HP:0000678
Dysplastic ears
Frequent (30-79%)HP:0000377
Epilepsy
Frequent (30-79%)HP:0001250
Female pseudohermaphroditism
Frequent (30-79%)HP:0010458
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Hypoplastic larynx
Frequent (30-79%)HP:0008749
Increased distance between eyes
Frequent (30-79%)HP:0000316
Laryngeal stenosis
Frequent (30-79%)HP:0001602
Misalignment of upper and lower dental arches
Frequent (30-79%)HP:0000689
Nanophthalmos
Frequent (30-79%)HP:0000568
Quick Facts
- SNOMED CT
- 204102004
- UMLS CUI
- C0265233
- Fully Specified Name
- Cryptophthalmos 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.