heart and brain malformation syndrome
MONDO:0014833Mondo
Findings
No curated finding names heart and brain malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
38 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.
- Ventricular septal defectHPOHP:0001629
- 3 of 3 reported patients
- Hand clenchingHPOHP:0001188
- 11 of 12 reported patients
- Axial hypotoniaHPOHP:0008936
- 11 of 13 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 2 of 3 reported patients
- Growth delayHPOHP:0001510
- 2 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- Camptodactyly of fingerHPOHP:0100490
- 1 of 2 reported patients
- Cleft lipHPOHP:0410030
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 1 of 2 reported patients
- High, narrow palateHPOHP:0002705
- 1 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 2 reported patients
Show the remaining 26
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 2 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 2 reported patients
- Thick lower lip vermilionHPOHP:0000179
- 1 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 2 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.
- SMG9HGNC:25763
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: heart and brain malformation syndrome
- Also called
- HBMSheart and brain malformation syndrome; HBMS