NEDJED
MCID: NRD100
MIFTS: 10

Neurodevelopmental, Jaw, Eye, and Digital Syndrome (NEDJED)

Categories: Genetic diseases, Neuronal diseases, Oral diseases

Aliases & Classifications for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

MalaCards integrated aliases for Neurodevelopmental, Jaw, Eye, and Digital Syndrome:

Name: Neurodevelopmental, Jaw, Eye, and Digital Syndrome 56
Nedjed 56

Classifications:



External Ids:

OMIM 56 618914

Summaries for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

OMIM : 56 Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen (Holt et al., 2019). (618914)

MalaCards based summary : Neurodevelopmental, Jaw, Eye, and Digital Syndrome, is also known as nedjed. An important gene associated with Neurodevelopmental, Jaw, Eye, and Digital Syndrome is FBXW11 (F-Box And WD Repeat Domain Containing 11). Affiliated tissues include eye and brain.

Related Diseases for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Symptoms & Phenotypes for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Clinical features from OMIM:

618914

Drugs & Therapeutics for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Genetic Tests for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Anatomical Context for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

MalaCards organs/tissues related to Neurodevelopmental, Jaw, Eye, and Digital Syndrome:

40
Eye, Brain

Publications for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Articles related to Neurodevelopmental, Jaw, Eye, and Digital Syndrome:

# Title Authors PMID Year
1
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 56
31402090 2019
2
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. 56
16865294 2006

Variations for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Expression for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Search GEO for disease gene expression data for Neurodevelopmental, Jaw, Eye, and Digital Syndrome.

Pathways for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

GO Terms for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

Sources for Neurodevelopmental, Jaw, Eye, and Digital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....