NEDLBA
MCID: NRD061
MIFTS: 14

Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities (NEDLBA)

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

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
highly variable extraneurologic phenotype


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 and eye.

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
visual impairment
megalocornea
periorbital fullness
epicanthal folds
more
Neurologic Central Nervous System:
global developmental delay
hypoplasia of the corpus callosum
delayed myelination
enlarged ventricles
small brainstem
more
Head And Neck Nose:
broad nasal tip
full nasal tip

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding

Skeletal Hands:
single palmar crease

Cardiovascular Heart:
septal defects (in some patients)

Muscle Soft Tissue:
inguinal hernia
umbilical hernia
hypotonia

Head And Neck Face:
broad forehead
short philtrum
dysmorphic features, variable (in some patients)

Skeletal Skull:
plagiocephaly

Skeletal:
joint hyperlaxity

Head And Neck Head:
microcephaly (in some patients)
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

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, Eye

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

Articles related to Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities:

# Title Authors Year
1
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. ( 30595372 )
2019

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....