Overview
Xq28 contiguous gene deletion syndrome 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.
Central nuclei
Always present (100%)HP:0003687
Hypospadias
Always present (100%)HP:0000047
Peripheral hypotonia
Always present (100%)HP:0001252
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Ambiguous genitalia in males
Frequent (30-79%)HP:0000033
Blind-ended vagina
Frequent (30-79%)HP:0040314
Cryptorchidism
Frequent (30-79%)HP:0000028
Cryptorchidism, bilateral
Frequent (30-79%)HP:0008689
Decreased fetal movement
Frequent (30-79%)HP:0001558
Glanular hypospadias
Frequent (30-79%)HP:0000807
Hydramnios
Frequent (30-79%)HP:0001561
Hyporeflexia
Frequent (30-79%)HP:0001265
Laboured breathing
Frequent (30-79%)HP:0002098
Myopathy
Frequent (30-79%)HP:0003198
Penile hypospadias
Frequent (30-79%)HP:0003244
Penoscrotal hypospadias
Frequent (30-79%)HP:0000808
Pulmonary atelectasis
Frequent (30-79%)HP:0100750
Respiratory insufficiency
Frequent (30-79%)HP:0002093
Scrotal cleft
Frequent (30-79%)HP:0000048
Short penis
Frequent (30-79%)HP:0000054
Unilateral cryptorchidism
Frequent (30-79%)HP:0012741
Feeding difficulties
Occasional (5-29%)HP:0011968
High arched palate
Occasional (5-29%)HP:0000218
Joint instability
Occasional (5-29%)HP:0001382
Retrognathia
Occasional (5-29%)HP:0000278
Slender ribs
Occasional (5-29%)HP:0000883
Quick Facts
- SNOMED CT
- 1255278004
- UMLS CUI
- C1846169
- Fully Specified Name
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.