NEDBASH
MCID: NRD086
MIFTS: 12

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 6
Nedbash 56

Classifications:



External Ids:

OMIM 56 618718

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.

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

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

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

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

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

(showing 4, show less)
# Title Authors PMID Year
1
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. 56 6
31668703 2019
2
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. 56 6
31372774 2019
3
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. 6
31692205 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 (showing 6, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

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...

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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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