neurodevelopmental, jaw, eye, and digital syndrome
MONDO:0030057Mondo
Findings
No curated finding names neurodevelopmental, jaw, eye, and digital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Motor delayHPOHP:0001270
- 6 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 6 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 6 reported patients
- RetrognathiaHPOHP:0000278
- 3 of 7 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 5 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 2 of 5 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 6 reported patients
- Self-injurious behaviorHPOHP:0100716
- 2 of 6 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 2 of 7 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 7 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 7 reported patients
Show the remaining 22
- HypertoniaHPOHP:0001276
- 2 of 7 reported patients
- MyopiaHPOHP:0000545
- 2 of 7 reported patients
- Sandal gapHPOHP:0001852
- 2 of 7 reported patients
- Small thenar eminenceHPOHP:0001245
- 2 of 7 reported patients
- ImpulsivityHPOHP:0100710
- 1 of 6 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 6 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.
- FBXW11HGNC:13607
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodevelopmental, jaw, eye, and digital syndrome
- Also called
- NEDJED