neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
MONDO:0957583Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
29 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.
- Aberrant right subclavian arteryHPOHP:0031632
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- Genu varumHPOHP:0002970
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 16 of 16 reported patients
- HerniaHPOHP:0100790
- 1 of 1 reported patient
- Increased nuchal translucencyHPOHP:0010880
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
Show the remaining 17
- Postaxial polydactylyHPOHP:0100259
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Right aortic archHPOHP:0012020
- 1 of 1 reported patient
- Specific learning disabilityHPOHP:0001328
- 1 of 1 reported patient
- Ventricular septal defectHPOHP:0001629
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 16 of 17 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.
- SRSF1HGNC:10780
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · Baylor College of Medicine Research Center · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025