X-linked myotubular myopathy-abnormal genitalia syndrome
Findings
No curated finding names X-linked myotubular myopathy-abnormal genitalia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
Definition from the Mondo Disease Ontology (MONDO:0010271), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death · Fetal onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- PolyhydramniosHPOHP:0001561
- 2 of 2 reported patients · Fetal onset
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked myotubular myopathy-abnormal genitalia syndrome
- Also called
- Xq28 contiguous gene deletion syndrome