Overview
Maternal uniparental disomy of chromosome 6 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 ERG
Frequent (30-79%)HP:0000512
Cleft of palate
Frequent (30-79%)HP:0000175
Cleft of upper lip
Frequent (30-79%)HP:0000204
Dermatitis
Frequent (30-79%)HP:0000964
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Hydrocele testis
Frequent (30-79%)HP:0000034
Immune deficiency
Frequent (30-79%)HP:0002721
Inguinal hernia
Frequent (30-79%)HP:0000023
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Inverted triangular face
Frequent (30-79%)HP:0000325
Low platelet count
Frequent (30-79%)HP:0001873
Poor school performance
Frequent (30-79%)HP:0001249
Progressive visual loss
Frequent (30-79%)HP:0000529
Retinitis pigmentosa
Frequent (30-79%)HP:0000510
Slender long bone
Frequent (30-79%)HP:0003100
Accelerated bone age after puberty
Occasional (5-29%)HP:0002805
Congenital adrenal hyperplasia
Occasional (5-29%)HP:0008258
Delayed gross motor development
Occasional (5-29%)HP:0002194
High serum testosterone level
Occasional (5-29%)HP:0030088
Prominent clitoris
Occasional (5-29%)HP:0008665
Quick Facts
- SNOMED CT
- 766239009
- UMLS CUI
- C4707720
- Fully Specified Name
- Maternal uniparental disomy of chromosome 6 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.