NEDBASH
MCID: NRD086
MIFTS: 24

Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia (NEDBASH)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

MalaCards integrated aliases for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

Name: Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia 56 73 6 17
Nedbash 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
similarities to rett syndrome


HPO:

31
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

OMIM : 56 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome (RTT; 312750), such as poor communication, stereotypic or repetitive behaviors, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities (summary by Abu-Libdeh et al., 2019 and Dias et al., 2019). (618718)

MalaCards based summary : Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia, is also known as nedbash. An important gene associated with Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia is NTNG2 (Netrin G2). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and microcephaly

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia: An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development, impaired motor development, axial and peripheral hypotonia, poor speech and significant behavioral abnormalities, including autism spectrum disorder, hyperactivity, mood disorders, aggression, hand and face stereotypies, sleep disturbances, anxiety, self-injurious behavior, and bruxism.

Related Diseases for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Human phenotypes related to Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 developmental regression 31 very rare (1%) HP:0002376
4 eeg abnormality 31 very rare (1%) HP:0002353
5 muscle weakness 31 very rare (1%) HP:0001324
6 spasticity 31 very rare (1%) HP:0001257
7 nystagmus 31 very rare (1%) HP:0000639
8 tremor 31 very rare (1%) HP:0001337
9 frontal bossing 31 very rare (1%) HP:0002007
10 absent speech 31 very rare (1%) HP:0001344
11 low-set ears 31 very rare (1%) HP:0000369
12 motor delay 31 very rare (1%) HP:0001270
13 downturned corners of mouth 31 very rare (1%) HP:0002714
14 self-injurious behavior 31 very rare (1%) HP:0100716
15 hypotelorism 31 very rare (1%) HP:0000601
16 autistic behavior 31 very rare (1%) HP:0000729
17 hyperactivity 31 very rare (1%) HP:0000752
18 brain atrophy 31 very rare (1%) HP:0012444
19 inability to walk 31 very rare (1%) HP:0002540
20 esotropia 31 very rare (1%) HP:0000565
21 drooling 31 very rare (1%) HP:0002307
22 bruxism 31 very rare (1%) HP:0003763
23 infantile muscular hypotonia 31 very rare (1%) HP:0008947
24 paroxysmal bursts of laughter 31 very rare (1%) HP:0000749
25 seizure 31 very rare (1%) HP:0001250
26 intellectual disability 31 HP:0001249
27 stereotypy 31 HP:0000733

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
sleep disturbances
seizures (in some patients)
spasticity (in some patients)
tremor (in some patients)
more
Muscle Soft Tissue:
muscle weakness
muscle atrophy
hypotonia, axial and peripheral

Head And Neck Head:
brachycephaly
small head circumference
microcephaly, down to -4 sd (in some patients)

Head And Neck Eyes:
strabismus
hypotelorism
poor eye contact
esotropia
deep-set eyes
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
self-injurious behavior
hyperactivity
bruxism
stereotypic movements
more
Abdomen Gastrointestinal:
constipation
drooling
bloating

Head And Neck Mouth:
downslanting corners of the mouth

Skeletal Feet:
small cold feet

Head And Neck Nose:
anteverted nares

Growth Other:
failure to thrive
poor overall growth

Head And Neck Face:
frontal bossing
high forehead
dysmorphic facial features, variable

Head And Neck Ears:
low-set ears

Skeletal:
joint hypermobility

Neurologic Peripheral Nervous System:
hyporeflexia

Skeletal Hands:
small cold hands

Clinical features from OMIM:

618718

Drugs & Therapeutics for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia

Genetic Tests for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Anatomical Context for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Articles related to Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

# Title Authors PMID Year
1
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. 6 56
31692205 2020
2
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. 56 6
31668703 2019
3
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. 6 56
31372774 2019
4
Diversification of behavior and postsynaptic properties by netrin-G presynaptic adhesion family proteins. 56
26746425 2016

Variations for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NTNG2 NM_032536.4(NTNG2):c.376dup (p.Ser126fs)duplication Pathogenic 690370 9:135073512-135073513 9:132198125-132198126
2 NTNG2 NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)SNV Pathogenic/Likely pathogenic 691559 9:135073381-135073381 9:132197994-132197994
3 NTNG2 NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)SNV Pathogenic/Likely pathogenic 691556 9:135073458-135073458 9:132198071-132198071
4 NTNG2 NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)SNV Pathogenic/Likely pathogenic 691560 9:135073585-135073585 9:132198198-132198198
5 NTNG2 NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)SNV Pathogenic/Likely pathogenic 691558 9:135114501-135114501 9:132239114-132239114
6 NTNG2 NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)SNV Pathogenic/Likely pathogenic 691555 9:135117272-135117272 9:132241885-132241885

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia:

73
# Symbol AA change Variation ID SNP ID
1 NTNG2 p.Cys81Tyr VAR_083458
2 NTNG2 p.Trp107Gly VAR_083459
3 NTNG2 p.Met149Thr VAR_083460
4 NTNG2 p.Ser200Leu VAR_083461
5 NTNG2 p.Cys355Trp VAR_083462
6 NTNG2 p.Ser359Cys VAR_083463
7 NTNG2 p.Cys456Tyr VAR_083464

Expression for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent Speech, and Hypotonia.

Pathways for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

GO Terms for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

Sources for Neurodevelopmental Disorder with Behavioral Abnormalities, Absent...

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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