NEDSHBA
MCID: NRD105
MIFTS: 22

Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities (NEDSHBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

MalaCards integrated aliases for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities:

Name: Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities 57 73 6
Nedshba 57 73
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Abnormalities 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy
seizures are usually refractory
death in childhood (in some patients)


HPO:

31
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

OMIM® : 57 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020). (618922) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities, is also known as nedshba. An important gene associated with Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities is GRM7 (Glutamate Metabotropic Receptor 7). Affiliated tissues include brain and pituitary, and related phenotypes are intellectual disability and hyperreflexia

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, hypotonia, severe to profound intellectual disability, early-onset epilepsy, and microcephaly. Neuroimaging shows cerebral atrophy, thin corpus callosum and hypomyelination in a majority of cases. Death in childhood may occur.

Related Diseases for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Human phenotypes related to Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hyperreflexia 31 very rare (1%) HP:0001347
3 failure to thrive 31 very rare (1%) HP:0001508
4 dysphagia 31 very rare (1%) HP:0002015
5 hypothyroidism 31 very rare (1%) HP:0000821
6 hearing impairment 31 very rare (1%) HP:0000365
7 microcephaly 31 very rare (1%) HP:0000252
8 short stature 31 very rare (1%) HP:0004322
9 lipodystrophy 31 very rare (1%) HP:0009125
10 neonatal respiratory distress 31 very rare (1%) HP:0002643
11 polyhydramnios 31 very rare (1%) HP:0001561
12 severe global developmental delay 31 very rare (1%) HP:0011344
13 panhypopituitarism 31 very rare (1%) HP:0000871
14 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
15 cerebellar atrophy 31 very rare (1%) HP:0001272
16 status epilepticus 31 very rare (1%) HP:0002133
17 recurrent infections 31 very rare (1%) HP:0002719
18 self-mutilation 31 very rare (1%) HP:0000742
19 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
20 cerebral visual impairment 31 very rare (1%) HP:0100704
21 cns hypomyelination 31 very rare (1%) HP:0003429
22 limb hypertonia 31 very rare (1%) HP:0002509
23 reduced brain n-acetyl aspartate level by mrs 31 very rare (1%) HP:0012708
24 elevated brain choline level by mrs 31 very rare (1%) HP:0012706
25 nasogastric tube feeding in infancy 31 very rare (1%) HP:0011470
26 hippocampal atrophy 31 very rare (1%) HP:0410170
27 interictal epileptiform activity 31 very rare (1%) HP:0011182
28 vitamin b12 deficiency 31 very rare (1%) HP:0100502
29 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
30 aspiration 31 HP:0002835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
status epilepticus
myoclonic seizures
hypomyelination
generalized seizures
more
Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
recurrent respiratory infections

Head And Neck Mouth:
wide mouth
thick lips

Head And Neck Face:
low anterior hairline
hypotonic facies

Head And Neck Teeth:
large teeth

Head And Neck Head:
microcephaly, progressive (down to -3.8 sd)

Growth Other:
failure to thrive
poor overall growth

Endocrine Features:
hypothyroidism
growth hormone deficiency
hormonal abnormalities (in some patients)
pituitary dysfunction

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Nose:
prominent nose

Head And Neck Eyes:
cortical visual impairment (in some patients)

Clinical features from OMIM®:

618922 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Anatomical Context for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities:

40
Brain, Pituitary

Publications for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Articles related to Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities:

# Title Authors PMID Year
1
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. 6 57
32286009 2020
2
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 57 6
28097321 2017
3
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. 6 57
27435318 2016

Variations for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRM7 NM_000844.4(GRM7):c.461T>C (p.Ile154Thr) SNV Pathogenic 242895 rs1114167298 3:6903536-6903536 3:6861849-6861849
2 GRM7 NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp) SNV Pathogenic 242900 rs1114167300 3:7620565-7620565 3:7578878-7578878
3 GRM7 NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys) SNV Pathogenic 242901 rs1114167301 3:7620617-7620617 3:7578930-7578930
4 GRM7 NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter) SNV Pathogenic 972736 3:7620350-7620350 3:7578663-7578663
5 GRM7 NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln) SNV Pathogenic 972737 3:7620566-7620566 3:7578879-7578879
6 GRM7 NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys) SNV Pathogenic 972738 3:7721955-7721955 3:7680268-7680268
7 GRM7 NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter) SNV Pathogenic 972739 3:7620568-7620568 3:7578881-7578881

Expression for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities.

Pathways for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

GO Terms for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

Sources for Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain...

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
Content
Loading form....