NEDMIBA
MCID: NRD070
MIFTS: 14

Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (NEDMIBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Structural...

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

Name: Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies 57 6
Nedmiba 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated families have been reported (last curated july 2019)


Classifications:



External Ids:

OMIM 57 618492

Summaries for Neurodevelopmental Disorder with Microcephaly and Structural...

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies, is also known as nedmiba. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies is DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2). Affiliated tissues include brain and eye.

More information from OMIM: 618492

Related Diseases for Neurodevelopmental Disorder with Microcephaly and Structural...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly and Structural...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
inability to walk
cerebral atrophy
simplified gyral pattern
more
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Voice:
nasal voice

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Skeletal:
distal joint hyperextensibility

Head And Neck Nose:
anteverted nares
bulbous nose
prominent nose

Head And Neck Face:
sloping forehead

Head And Neck Eyes:
upslanting palpebral fissures
prominent eyes

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (down to -6.7 sd)

Clinical features from OMIM:

618492

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly and Structural...

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

Genetic Tests for Neurodevelopmental Disorder with Microcephaly and Structural...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly and Structural...

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

41
Brain, Eye

Publications for Neurodevelopmental Disorder with Microcephaly and Structural...

Articles related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:

# Title Authors PMID Year
1
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. 8 71
31079899 2019

Variations for Neurodevelopmental Disorder with Microcephaly and Structural...

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1I2 NM_001378.3(DYNC1I2): c.607+1G> A single nucleotide variant Pathogenic 2:172582224-172582224 2:171725714-171725714
2 DYNC1I2 NM_001378.3(DYNC1I2): c.740A> G (p.Tyr247Cys) single nucleotide variant Pathogenic 2:172582561-172582561 2:171726051-171726051
3 DYNC1I2 NM_001378.3(DYNC1I2): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic 2:172582801-172582801 2:171726291-171726291

Expression for Neurodevelopmental Disorder with Microcephaly and Structural...

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

Pathways for Neurodevelopmental Disorder with Microcephaly and Structural...

GO Terms for Neurodevelopmental Disorder with Microcephaly and Structural...

Sources for Neurodevelopmental Disorder with Microcephaly and Structural...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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