NEDBAF
MCID: NRD079
MIFTS: 18

Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (NEDBAF)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

Name: Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 56 73 6 17
Nedbaf 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM 56 618577
MeSH 43 D065886
MedGen 41 CN262311

Summaries for Neurodevelopmental Disorder with Structural Brain Anomalies and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum.

MalaCards based summary : Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies, is also known as nedbaf. An important gene associated with Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies is RAC3 (Rac Family Small GTPase 3). Affiliated tissues include brain and eye.

More information from OMIM: 618577

Related Diseases for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
polymicrogyria
enlarged ventricles
seizures (in some patients)
corpus callosum abnormalities
more
Head And Neck Eyes:
hypertelorism
long eyelashes
high-arched eyebrows
prominent eyes
narrow palpebral fissures

Head And Neck Head:
brachycephaly

Head And Neck Teeth:
dental crowding

Skeletal Hands:
clinodactyly
tapering fingers

Head And Neck Ears:
simple ears

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short nose
anteverted nares
broad nasal tip

Skeletal Spine:
scoliosis

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
short philtrum
prominent glabella
dysmorphic features, variable
frontal bossing, sloping forehead

Head And Neck Mouth:
high-arched palate
full lips

Muscle Soft Tissue:
abnormal tone

Clinical features from OMIM:

618577

Drugs & Therapeutics for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies

Genetic Tests for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Anatomical Context for Neurodevelopmental Disorder with Structural Brain Anomalies and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Articles related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

# Title Authors PMID Year
1
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. 6 56
30293988 2019
2
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 56 6
29276006 2018

Variations for Neurodevelopmental Disorder with Structural Brain Anomalies and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAC3 NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)SNV Pathogenic 585004 rs1568018697 17:79990313-79990313 17:82032437-82032437
2 RAC3 NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)SNV Pathogenic 585005 rs1568018920 17:79990661-79990661 17:82032785-82032785
3 RAC3 NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)SNV Likely pathogenic 488059 rs1379395211 17:79990655-79990655 17:82032779-82032779
4 RAC3 NM_005052.3(RAC3):c.184G>A (p.Glu62Lys)SNV Uncertain significance 425149 rs1064797229 17:79990663-79990663 17:82032787-82032787

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:

73
# Symbol AA change Variation ID SNP ID
1 RAC3 p.Pro29Leu VAR_083040
2 RAC3 p.Gln61Leu VAR_083041
3 RAC3 p.Glu62Lys VAR_083042
4 RAC3 p.Ala59Gly VAR_083245

Expression for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies.

Pathways for Neurodevelopmental Disorder with Structural Brain Anomalies and...

GO Terms for Neurodevelopmental Disorder with Structural Brain Anomalies and...

Sources for Neurodevelopmental Disorder with Structural Brain Anomalies and...

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
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