NEDLIB
MCID: NRD104
MIFTS: 19

Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities (NEDLIB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Language Impairment and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:

Name: Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities 57 73 6
Nedlib 57 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation


HPO:

31
neurodevelopmental disorder with language impairment and behavioral abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Language Impairment and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with language impairment and behavioral abnormalities: A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities, such as autism spectrum disorder, repetitive behaviors, and hyperactivity. Some patients develop seizures and manifest developmental regression.

MalaCards based summary : Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities, is also known as nedlib. An important gene associated with Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities is GRIA2 (Glutamate Ionotropic Receptor AMPA Type Subunit 2). Related phenotypes are intellectual disability and spasticity

OMIM® : 57 Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression (Salpietro et al., 2019). (618917) (Updated 05-Mar-2021)

Related Diseases for Neurodevelopmental Disorder with Language Impairment and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Language Impairment and...

Human phenotypes related to Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 spasticity 31 very rare (1%) HP:0001257
3 chorea 31 very rare (1%) HP:0002072
4 self-injurious behavior 31 very rare (1%) HP:0100716
5 global developmental delay 31 very rare (1%) HP:0001263
6 absent speech 31 very rare (1%) HP:0001344
7 cryptorchidism 31 very rare (1%) HP:0000028
8 talipes equinovarus 31 very rare (1%) HP:0001762
9 obsessive-compulsive behavior 31 very rare (1%) HP:0000722
10 dystonia 31 very rare (1%) HP:0001332
11 gait ataxia 31 very rare (1%) HP:0002066
12 cerebellar atrophy 31 very rare (1%) HP:0001272
13 cerebral atrophy 31 very rare (1%) HP:0002059
14 autistic behavior 31 very rare (1%) HP:0000729
15 focal-onset seizure 31 very rare (1%) HP:0007359
16 inability to walk 31 very rare (1%) HP:0002540
17 progressive microcephaly 31 very rare (1%) HP:0000253
18 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
19 febrile seizure (within the age range of 3 months to 6 years) 31 very rare (1%) HP:0002373
20 tonic seizure 31 very rare (1%) HP:0032792
21 clonic seizure 31 very rare (1%) HP:0020221
22 stereotypical hand wringing 31 HP:0012171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
developmental regression
global developmental delay
dystonia
inability to walk
more
Head And Neck Head:
deceleration of head growth (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
obsessive-compulsive disorder
impaired social interaction
stereotypic behavior
repetitive behavior
more

Clinical features from OMIM®:

618917 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Language Impairment and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Language Impairment and...

Anatomical Context for Neurodevelopmental Disorder with Language Impairment and...

Publications for Neurodevelopmental Disorder with Language Impairment and...

Articles related to Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:

# Title Authors PMID Year
1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. 57 6
31300657 2019

Variations for Neurodevelopmental Disorder with Language Impairment and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIA2 NM_001083619.1(GRIA2):c.1831G>A (p.Asp611Asn) SNV Pathogenic 440956 rs1553956958 4:158257886-158257886 4:157336734-157336734
2 GRIA2 NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) SNV Pathogenic 929838 4:158257880-158257880 4:157336728-157336728
3 GRIA2 NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) SNV Pathogenic 929839 4:158253993-158253993 4:157332841-157332841
4 GRIA2 NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) SNV Pathogenic 929840 4:158257637-158257637 4:157336485-157336485
5 GRIA2 NM_000826.4(GRIA2):c.1915G>T (p.Ala639Ser) SNV Pathogenic 801356 rs1579377564 4:158262486-158262486 4:157341334-157341334
6 GRIA2 NM_001083619.3(GRIA2):c.1939G>C (p.Val647Leu) SNV Pathogenic 929842 4:158262510-158262510 4:157341358-157341358
7 GRIA2 NM_001083619.3(GRIA2):c.2251A>G (p.Lys751Glu) SNV Likely pathogenic 976697 4:158281255-158281255 4:157360103-157360103

Expression for Neurodevelopmental Disorder with Language Impairment and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities.

Pathways for Neurodevelopmental Disorder with Language Impairment and...

GO Terms for Neurodevelopmental Disorder with Language Impairment and...

Sources for Neurodevelopmental Disorder with Language Impairment 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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