NEDMIBA
MCID: NRD070
MIFTS: 19

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 73 6
Nedmiba 57 73

Characteristics:

OMIM®:

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

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


HPO:

31
neurodevelopmental disorder with microcephaly and structural brain anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly and Structural...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly and structural brain anomalies: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia.

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 related phenotypes are agenesis of corpus callosum and dysarthria

More information from OMIM: 618492

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

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

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 very rare (1%) HP:0001274
2 dysarthria 31 very rare (1%) HP:0001260
3 global developmental delay 31 very rare (1%) HP:0001263
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 microcephaly 31 very rare (1%) HP:0000252
6 anteverted nares 31 very rare (1%) HP:0000463
7 intellectual disability, severe 31 very rare (1%) HP:0010864
8 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
9 motor delay 31 very rare (1%) HP:0001270
10 upslanted palpebral fissure 31 very rare (1%) HP:0000582
11 bulbous nose 31 very rare (1%) HP:0000414
12 absent septum pellucidum 31 very rare (1%) HP:0001331
13 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
14 aggressive behavior 31 very rare (1%) HP:0000718
15 seizure 31 very rare (1%) HP:0001250
16 simplified gyral pattern 31 very rare (1%) HP:0009879
17 spasticity 31 HP:0001257
18 hyperreflexia 31 HP:0001347
19 short stature 31 HP:0004322
20 proptosis 31 HP:0000520
21 nasal speech 31 HP:0001611
22 severe global developmental delay 31 HP:0011344
23 sloping forehead 31 HP:0000340
24 prominent nose 31 HP:0000448
25 cerebral atrophy 31 HP:0002059
26 generalized hypotonia 31 HP:0001290
27 inability to walk 31 HP:0002540
28 hypoplasia of the brainstem 31 HP:0002365
29 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebral atrophy
inability to walk
simplified gyral pattern
more
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

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

Voice:
nasal voice

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

Clinical features from OMIM®:

618492 (Updated 05-Mar-2021)

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:

40
Brain

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. 6 57
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1I2 NM_001378.3(DYNC1I2):c.607+1G>A SNV Pathogenic 635399 rs1574594051 2:172582224-172582224 2:171725714-171725714
2 DYNC1I2 NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys) SNV Pathogenic 635400 rs752940799 2:172582561-172582561 2:171726051-171726051
3 DYNC1I2 NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter) SNV Pathogenic 635401 rs1574596084 2:172582801-172582801 2:171726291-171726291

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

73
# Symbol AA change Variation ID SNP ID
1 DYNC1I2 p.Tyr247Cys VAR_082947

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
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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