NEDBAVC
MCID: NRD089
MIFTS: 14

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 56 6
Nedbavc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features


Classifications:



External Ids:

OMIM 56 618731

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

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.

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...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
nystagmus
blindness
strabismus
more
Growth Height:
short stature

Head And Neck Nose:
anteverted nares

Head And Neck Neck:
broad neck

Head And Neck Teeth:
macrodontia
tooth agenesis

Head And Neck Mouth:
downturned corners of the mouth

Muscle Soft Tissue:
hypoplasia of the extraocular muscles

Skeletal Spine:
scoliosis
platyspondyly

Head And Neck Head:
microcephaly
plagiocephaly

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

Neurologic Central Nervous System:
polymicrogyria
infantile spasms
delayed myelination
colpocephaly
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

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. 56 6
31256877 2019
2
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 56 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.1399C>T (p.Leu467=)SNV Pathogenic 804277 12:125453089-125453089 12:124968543-124968543
2 DHX37 NM_032656.4(DHX37):c.2191G>A (p.Val731Met)SNV Pathogenic/Likely pathogenic 691926 12:125441648-125441648 12:124957102-124957102
3 DHX37 NM_032656.4(DHX37):c.500_501inv (p.Glu167Ala)inversion Pathogenic/Likely pathogenic 691928 12:125465273-125465274 12:124980727-124980728
4 DHX37 NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)SNV Pathogenic/Likely pathogenic 691927 12:125467168-125467168 12:124982622-124982622
5 DHX37 NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys)SNV Likely pathogenic 402139 rs1060499737 12:125453449-125453449 12:124968903-124968903

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
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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