MCID: NRD061
MIFTS: 8

Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder and Language Delay with or Without...

MalaCards integrated aliases for Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities:

Name: Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 58 6
Nedlba 58

Classifications:



External Ids:

OMIM 58 618354

Summaries for Neurodevelopmental Disorder and Language Delay with or Without...

OMIM : 58 Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). (618354)

MalaCards based summary : Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities, is also known as nedlba. An important gene associated with Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities is PPP2CA (Protein Phosphatase 2 Catalytic Subunit Alpha). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder and Language Delay with or Without...

Symptoms & Phenotypes for Neurodevelopmental Disorder and Language Delay with or Without...

Clinical features from OMIM:

618354

Drugs & Therapeutics for Neurodevelopmental Disorder and Language Delay with or Without...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities

Genetic Tests for Neurodevelopmental Disorder and Language Delay with or Without...

Anatomical Context for Neurodevelopmental Disorder and Language Delay with or Without...

MalaCards organs/tissues related to Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities:

42
Brain

Publications for Neurodevelopmental Disorder and Language Delay with or Without...

Variations for Neurodevelopmental Disorder and Language Delay with or Without...

ClinVar genetic disease variations for Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP2CA NM_002715.4(PPP2CA): c.572A> G (p.His191Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 133536680: 133536680
2 PPP2CA NM_002715.4(PPP2CA): c.572A> G (p.His191Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 134200989: 134200989
3 PPP2CA NM_002715.4(PPP2CA): c.438del (p.Phe146Leufs) deletion Pathogenic GRCh37 Chromosome 5, 133537587: 133537587
4 PPP2CA NM_002715.4(PPP2CA): c.438del (p.Phe146Leufs) deletion Pathogenic GRCh38 Chromosome 5, 134201896: 134201896
5 PPP2CA NM_002715.4(PPP2CA): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 134201961: 134201961
6 PPP2CA NM_002715.4(PPP2CA): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 133537652: 133537652
7 PPP2CA NM_002715.4(PPP2CA): c.922_924dup (p.Phe308_Leu309insPhe) duplication Pathogenic GRCh37 Chromosome 5, 133533469: 133533471
8 PPP2CA NM_002715.4(PPP2CA): c.922_924dup (p.Phe308_Leu309insPhe) duplication Pathogenic GRCh38 Chromosome 5, 134197778: 134197780
9 PPP2CA NM_002715.4(PPP2CA): c.794A> G (p.Tyr265Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 133534840: 133534840
10 PPP2CA NM_002715.4(PPP2CA): c.794A> G (p.Tyr265Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 134199149: 134199149
11 PPP2CA NM_002715.4(PPP2CA): c.263A> G (p.Asp88Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 134205971: 134205971
12 PPP2CA NM_002715.4(PPP2CA): c.263A> G (p.Asp88Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 133541662: 133541662

Expression for Neurodevelopmental Disorder and Language Delay with or Without...

Search GEO for disease gene expression data for Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities.

Pathways for Neurodevelopmental Disorder and Language Delay with or Without...

GO Terms for Neurodevelopmental Disorder and Language Delay with or Without...

Sources for Neurodevelopmental Disorder and Language Delay with or Without...

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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