microcephaly-cardiomyopathy syndrome
MONDO:0009618Mondo
Findings
No curated finding names microcephaly-cardiomyopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009618), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Dilated cardiomyopathyHPO · MondoHP:0001644
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Sandal gapHPOHP:0001852
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- High, narrow palateHPOHP:0002705
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Show the remaining 3
- Sloping foreheadHPOHP:0000340
- Occasional (5% to 29% of cases)
- Ventricular septal defectHPOHP:0001629
- Occasional (5% to 29% of cases)
- VentriculomegalyHPOHP:0002119
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: microcephaly-cardiomyopathy syndrome
- Also called
- Winship-Viljoen-Leary syndrome