NEDBAF
MCID: NRD079
MIFTS: 21

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 57 73 6 17
Nedbaf 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


HPO:

31
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies:
Inheritance autosomal dominant inheritance


Classifications:



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 related phenotypes are scoliosis and hydrocephalus

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...

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

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 hydrocephalus 31 very rare (1%) HP:0000238
3 global developmental delay 31 very rare (1%) HP:0001263
4 hypertelorism 31 very rare (1%) HP:0000316
5 wide nasal bridge 31 very rare (1%) HP:0000431
6 short nose 31 very rare (1%) HP:0003196
7 anteverted nares 31 very rare (1%) HP:0000463
8 intellectual disability, severe 31 very rare (1%) HP:0010864
9 cryptorchidism 31 very rare (1%) HP:0000028
10 micrognathia 31 very rare (1%) HP:0000347
11 long philtrum 31 very rare (1%) HP:0000343
12 proptosis 31 very rare (1%) HP:0000520
13 midface retrusion 31 very rare (1%) HP:0011800
14 long eyelashes 31 very rare (1%) HP:0000527
15 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
16 feeding difficulties 31 very rare (1%) HP:0011968
17 hypoplastic female external genitalia 31 very rare (1%) HP:0012815
18 clinodactyly 31 very rare (1%) HP:0030084
19 seizure 31 very rare (1%) HP:0001250
20 unilambdoid synostosis 31 very rare (1%) HP:0011320
21 agenesis of corpus callosum 31 HP:0001274
22 brachycephaly 31 HP:0000248
23 ventriculomegaly 31 HP:0002119
24 plagiocephaly 31 HP:0001357
25 broad philtrum 31 HP:0000289
26 ulnar deviation of the wrist 31 HP:0003049

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

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

Head And Neck Head:
brachycephaly

Head And Neck Teeth:
dental crowding

Skeletal Hands:
clinodactyly
tapering fingers

Head And Neck Ears:
simple ears

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

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 (Updated 05-Mar-2021)

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

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. 57 6
30293988 2019
2
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 6 57
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.182A>T (p.Gln61Leu) SNV Pathogenic 585005 rs1568018920 17:79990661-79990661 17:82032785-82032785
2 RAC3 NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) SNV Pathogenic 585004 rs1568018697 17:79990313-79990313 17:82032437-82032437
3 RAC3 NM_005052.3(RAC3):c.184G>A (p.Glu62Lys) SNV Pathogenic 425149 rs1064797229 17:79990663-79990663 17:82032787-82032787
4 RAC3 NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) SNV Likely pathogenic 977758 17:79989671-79989671 17:82031795-82031795
5 RAC3 NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) SNV Likely pathogenic 982386 17:79990670-79990670 17:82032794-82032794
6 RAC3 NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) SNV Likely pathogenic 488059 rs1379395211 17:79990655-79990655 17:82032779-82032779

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 rs156801869
2 RAC3 p.Gln61Leu VAR_083041 rs156801892
3 RAC3 p.Glu62Lys VAR_083042 rs106479722
4 RAC3 p.Ala59Gly VAR_083245 rs137939521

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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