Overview
Distal monosomy 13q 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.
Abnormal hands
Occasional (5-29%)HP:0001155
Abnormal metacarpal morphology
Occasional (5-29%)HP:0005916
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Adrenocortical insufficiency
Occasional (5-29%)HP:0008207
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Anal atresia
Occasional (5-29%)HP:0002023
Aplasia/Hypoplasia affecting the eye
Occasional (5-29%)HP:0008056
Aplastic/hypoplastic thumbs
Occasional (5-29%)HP:0009601
Bifid skull
Occasional (5-29%)HP:0002084
Decreased body height
Occasional (5-29%)HP:0004322
Decreased size of cranium
Occasional (5-29%)HP:0000252
Fetal anencephaly
Occasional (5-29%)HP:0002323
Heart septal defect
Occasional (5-29%)HP:0001671
Hypoplastic or absent corpus callosum
Occasional (5-29%)HP:0007370
Increased distance between eyes
Occasional (5-29%)HP:0000316
Intellectual impairment
Occasional (5-29%)HP:0100543
Iris coloboma
Occasional (5-29%)HP:0000612
Optic atrophy
Occasional (5-29%)HP:0000648
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
Single brain ventricle
Occasional (5-29%)HP:0001360
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Urogenital fistula
Occasional (5-29%)HP:0100589
Quick Facts
- SNOMED CT
- 763527007
- UMLS CUI
- C4706502
- Fully Specified Name
- Distal monosomy 13q syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.