NEDBAVC
MCID: NRD089
MIFTS: 20

Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies (NEDBAVC)

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies:

Name: Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies 57 73 6
Nedbavc 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
variable dysmorphic features


HPO:

31
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, impaired intellectual development, hypotonia, brain anomalies including cortical volume loss, corpus callosum dysgenesis and cerebellar hypoplasia, and variable dysmorphic features. Patients may have platyspondyly, scoliosis, and cardiac anomalies.

MalaCards based summary : Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies, is also known as nedbavc. An important gene associated with Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies is DHX37 (DEAH-Box Helicase 37). Affiliated tissues include brain, and related phenotypes are scoliosis and ptosis

More information from OMIM: 618731

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

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

Human phenotypes related to Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 ptosis 31 very rare (1%) HP:0000508
3 nystagmus 31 very rare (1%) HP:0000639
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 microcephaly 31 very rare (1%) HP:0000252
7 anteverted nares 31 very rare (1%) HP:0000463
8 blindness 31 very rare (1%) HP:0000618
9 strabismus 31 very rare (1%) HP:0000486
10 broad neck 31 very rare (1%) HP:0000475
11 ophthalmoplegia 31 very rare (1%) HP:0000602
12 downturned corners of mouth 31 very rare (1%) HP:0002714
13 facial asymmetry 31 very rare (1%) HP:0000324
14 protruding ear 31 very rare (1%) HP:0000411
15 reduced number of teeth 31 very rare (1%) HP:0009804
16 short philtrum 31 very rare (1%) HP:0000322
17 pointed chin 31 very rare (1%) HP:0000307
18 midface retrusion 31 very rare (1%) HP:0011800
19 polymicrogyria 31 very rare (1%) HP:0002126
20 cerebellar hypoplasia 31 very rare (1%) HP:0001321
21 plagiocephaly 31 very rare (1%) HP:0001357
22 infantile spasms 31 very rare (1%) HP:0012469
23 macrodontia 31 very rare (1%) HP:0001572
24 colpocephaly 31 very rare (1%) HP:0030048
25 small nail 31 very rare (1%) HP:0001792
26 delayed cns myelination 31 very rare (1%) HP:0002188
27 cervical platyspondyly 31 very rare (1%) HP:0004558

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Head:
microcephaly
plagiocephaly

Growth Height:
short stature

Head And Neck Face:
facial asymmetry
short philtrum
pointed chin
midface hypoplasia

Head And Neck Teeth:
macrodontia
tooth agenesis

Head And Neck Mouth:
downturned corners of the mouth

Muscle Soft Tissue:
hypoplasia of the extraocular muscles

Head And Neck Eyes:
ptosis
nystagmus
hypertelorism
blindness
strabismus
more
Head And Neck Nose:
anteverted nares

Head And Neck Neck:
broad neck

Neurologic Central Nervous System:
polymicrogyria
infantile spasms
colpocephaly
delayed myelination
hypotonia
more
Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Ears:
protruding ears
abnormal pinna

Endocrine Features:
precocious puberty (in 1 patient)

Clinical features from OMIM®:

618731 (Updated 05-Mar-2021)

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies

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

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies:

40
Brain

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

Articles related to Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies:

# Title Authors PMID Year
1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. 6 57
31256877 2019
2
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 57 6
26539891 2015

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

ClinVar genetic disease variations for Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX37 NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) SNV Pathogenic 402139 rs1060499737 12:125453449-125453449 12:124968903-124968903
2 DHX37 NM_032656.4(DHX37):c.1399C>T (p.Leu467=) SNV Pathogenic 804277 rs149331610 12:125453089-125453089 12:124968543-124968543
3 DHX37 NM_032656.4(DHX37):c.2191G>A (p.Val731Met) SNV Pathogenic 691926 rs754186165 12:125441648-125441648 12:124957102-124957102
4 DHX37 NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) SNV Pathogenic 691927 rs575837056 12:125467168-125467168 12:124982622-124982622
5 DHX37 NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser) Inversion Pathogenic 691928 12:125465274-125465275 12:124980728-124980729

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Brain Anomalies and with or Without Vertebral or Cardiac Anomalies.

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

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

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

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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