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
Blindness
Very frequent (80-99%)HP:0000618
Cryptophthalmos
Very frequent (80-99%)HP:0001126
Cutaneous syndactyly of digits
Very frequent (80-99%)HP:0012725
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 middle ear
Frequent (30-79%)HP:0000370
Abnormally closed or absent vagina
Frequent (30-79%)HP:0000148
Abnormally small eyeball
Frequent (30-79%)HP:0000568
Absence of eyeballs
Frequent (30-79%)HP:0000528
Absent anus
Frequent (30-79%)HP:0002023
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Angle class 3 malocclusion
Frequent (30-79%)HP:0000689
Anorectal anomaly
Frequent (30-79%)HP:0012732
Bilobed tongue
Frequent (30-79%)HP:0010297
Cleft of palate
Frequent (30-79%)HP:0000175
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Dysplastic ears
Frequent (30-79%)HP:0000377
Ear anomalies
Frequent (30-79%)HP:0000356
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
Inadequate arch length for tooth size
Frequent (30-79%)HP:0000678
Increased distance between eyes
Frequent (30-79%)HP:0000316
Laryngeal stenosis
Frequent (30-79%)HP:0001602
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.