cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
MONDO:0010970Mondo
Findings
No curated finding names cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
21 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- AchalasiaHPOHP:0002571
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Coarctation of aortaHPOHP:0001680
- 1 of 1 reported patient
- Congenital lobar overinflationHPOHP:0033255
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Laterally extended eyebrowHPOHP:0011230
- 1 of 1 reported patient
Show the remaining 9
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Oral aversionHPOHP:0012523
- 1 of 1 reported patient
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 1 reported patient
- Sandal gapHPOHP:0001852
- 1 of 1 reported patient
- Secundum atrial septal defectHPOHP:0001684
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
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.
- MEIS2HGNC:7001
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of