microcephaly-seizures-intellectual disability-heart disease syndrome
MONDO:0016719Mondo
Findings
No curated finding names microcephaly-seizures-intellectual disability-heart disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.
Definition from the Mondo Disease Ontology (MONDO:0016719), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Congenital hypothyroidismHPOHP:0000851
- Very frequent (80% to 99% of cases)
- Congenital nystagmusHPOHP:0006934
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Micropenis
Show the remaining 12
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Frequent (30% to 79% of cases)