NEDMISB
MCID: NRD111
MIFTS: 16

Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy (NEDMISB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy:

Name: Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy 57 6
Nedmisb 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
death in childhood (in some patients)
one consanguineous family has been reported (last curated november 2020)


HPO:

31
neurodevelopmental disorder with microcephaly, seizures, and brain atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course death in adolescence


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

OMIM® : 57 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures (Coulter et al., 2020). (619076) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy, is also known as nedmisb. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy is EXOC8 (Exocyst Complex Component 8). Affiliated tissues include brain, and related phenotypes are spasticity and hyperreflexia

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 hyperreflexia 31 very rare (1%) HP:0001347
3 ptosis 31 very rare (1%) HP:0000508
4 muscle weakness 31 very rare (1%) HP:0001324
5 microcephaly 31 very rare (1%) HP:0000252
6 flexion contracture 31 very rare (1%) HP:0001371
7 irritability 31 very rare (1%) HP:0000737
8 craniosynostosis 31 very rare (1%) HP:0001363
9 round face 31 very rare (1%) HP:0000311
10 severe global developmental delay 31 very rare (1%) HP:0011344
11 long eyelashes 31 very rare (1%) HP:0000527
12 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
13 optic disc pallor 31 very rare (1%) HP:0000543
14 hypsarrhythmia 31 very rare (1%) HP:0002521
15 choroid plexus cyst 31 very rare (1%) HP:0002190
16 exotropia 31 very rare (1%) HP:0000577
17 delayed cns myelination 31 very rare (1%) HP:0002188
18 hypotonia 31 very rare (1%) HP:0001252
19 myoclonic seizure 31 very rare (1%) HP:0032794
20 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190
21 brain atrophy 31 HP:0012444

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
developmental regression
hypertonia
more
Head And Neck Face:
round face

Growth Other:
poor overall growth
wasting

Head And Neck Head:
microcephaly (-4.7 to -12.9 sd)

Muscle Soft Tissue:
muscle weakness

Head And Neck Eyes:
long eyelashes
exotropia
optic disc pallor (in some patients)
vision loss (in some patients)

Skeletal:
contractures (in some patients)

Abdomen Gastrointestinal:
unable to feed

Clinical features from OMIM®:

619076 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy:

40
Brain

Publications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Articles related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy:

# Title Authors PMID Year
1
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. 6 57
32103185 2020

Variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXOC8 NM_175876.5(EXOC8):c.1815_1816del (p.Gly606_Asp607insTer) Deletion Pathogenic 983549 1:231471676-231471677 1:231335930-231335931

Expression for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Brain Atrophy.

Pathways for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Sources for Neurodevelopmental Disorder with Microcephaly, Seizures, 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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