multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MONDO:0025351Mondo
Findings
No curated finding names multiple congenital anomalies-neurodevelopmental syndrome, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
69 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.
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 8 of 10 reported patients · Fetal onset
- VentriculomegalyHPOHP:0002119
- 8 of 10 reported patients
- HypotoniaHPOHP:0001252
- 7 of 9 reported patients
- Small for gestational ageHPOHP:0001518
- 7 of 9 reported patients
- Short statureHPOHP:0004322
- 7 of 10 reported patients
- Midface retrusionHPOHP:0011800
- 6 of 10 reported patients
- Ventricular septal defectHPOHP:0001629
- 6 of 10 reported patients
- Low-set earsHPOHP:0000369
- 4 of 7 reported patients
- PolyhydramniosHPOHP:0001561
- 5 of 9 reported patients · Fetal onset
- HypertelorismHPOHP:0000316
- 5 of 10 reported patients
Show the remaining 57
- HypospadiasHPOHP:0000047
- 5 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 10 reported patients
- MicropenisHPOHP:0000054
- 5 of 10 reported patients
- RetrognathiaHPOHP:0000278
- 4 of 9 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 7 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OTUD5HGNC:25402
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · ClinGen · X-linked · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- Also called
- Linked syndromeMCANDmultiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive