NEDLBA
MCID: NRD061
MIFTS: 23

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 57 72 29 6
Nedlba 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
neurodevelopmental disorder and language delay with or without structural brain abnormalities:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



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

OMIM® : 57 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) (Updated 05-Apr-2021)

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 related phenotypes are macrocephaly and microcephaly

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder and language delay with or without structural brain abnormalities: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with onset in infancy and additional variable features including hypotonia, epilepsy, brain abnormalities such as ventriculomegaly and a small corpus callosum, and autism spectrum disorder.

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

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

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

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 microcephaly 31 very rare (1%) HP:0000252
3 abnormal cardiac septum morphology 31 very rare (1%) HP:0001671
4 high palate 31 HP:0000218
5 global developmental delay 31 HP:0001263
6 inguinal hernia 31 HP:0000023
7 hypertelorism 31 HP:0000316
8 delayed speech and language development 31 HP:0000750
9 umbilical hernia 31 HP:0001537
10 visual impairment 31 HP:0000505
11 epicanthus 31 HP:0000286
12 ventriculomegaly 31 HP:0002119
13 proptosis 31 HP:0000520
14 short philtrum 31 HP:0000322
15 broad forehead 31 HP:0000337
16 megalocornea 31 HP:0000485
17 plagiocephaly 31 HP:0001357
18 hypoplasia of the corpus callosum 31 HP:0002079
19 feeding difficulties 31 HP:0011968
20 single transverse palmar crease 31 HP:0000954
21 autistic behavior 31 HP:0000729
22 broad nasal tip 31 HP:0000455
23 generalized hypotonia 31 HP:0001290
24 periorbital fullness 31 HP:0000629
25 delayed myelination 31 HP:0012448
26 hypoplasia of the brainstem 31 HP:0002365
27 delayed ability to walk 31 HP:0031936
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
hypoplasia of the corpus callosum
delayed myelination
enlarged ventricles
impaired intellectual development
more
Head And Neck Eyes:
hypertelorism
visual impairment
megalocornea
periorbital fullness
epicanthal folds
more
Skeletal Skull:
plagiocephaly

Head And Neck Mouth:
high-arched palate

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder

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

Cardiovascular Heart:
septal defects (in some patients)

Muscle Soft Tissue:
inguinal hernia
umbilical hernia
hypotonia

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

Head And Neck Nose:
broad nasal tip
full nasal tip

Skeletal:
joint hyperlaxity

Abdomen Gastrointestinal:
poor feeding

Skeletal Hands:
single palmar crease

Clinical features from OMIM®:

618354 (Updated 05-Apr-2021)

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...

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

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities 29 PPP2CA

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:

40
Brain

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 PMID Year
1
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 6 57
30595372 2019
2
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. 6
29051493 2017

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 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP2CA NM_002715.4(PPP2CA):c.438del (p.Phe146fs) Deletion Pathogenic 620079 rs1561734750 GRCh37: 5:133537587-133537587
GRCh38: 5:134201896-134201896
2 PPP2CA NM_002715.4(PPP2CA):c.373C>T (p.Gln125Ter) SNV Pathogenic 620080 rs1561734790 GRCh37: 5:133537652-133537652
GRCh38: 5:134201961-134201961
3 PPP2CA NM_002715.4(PPP2CA):c.724C>G (p.Gln242Glu) SNV Pathogenic 807663 rs1580636611 GRCh37: 5:133536040-133536040
GRCh38: 5:134200349-134200349
4 PPP2CA NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) SNV Pathogenic/Likely pathogenic 620083 rs1561737008 GRCh37: 5:133541662-133541662
GRCh38: 5:134205971-134205971
5 PPP2CA NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) SNV Likely pathogenic 620078 rs915349596 GRCh37: 5:133536680-133536680
GRCh38: 5:134200989-134200989
6 PPP2CA NM_002715.4(PPP2CA):c.722A>G (p.His241Arg) SNV Likely pathogenic 807664 rs1580636613 GRCh37: 5:133536042-133536042
GRCh38: 5:134200351-134200351
7 PPP2CA NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter) SNV Likely pathogenic 70140 rs148071386 GRCh37: 5:133536124-133536124
GRCh38: 5:134200433-134200433
8 PPP2CA NM_002715.4(PPP2CA):c.366G>C (p.Gln122His) SNV Likely pathogenic 692147 rs764595667 GRCh37: 5:133537659-133537659
GRCh38: 5:134201968-134201968
9 PPP2CA NM_002715.4(PPP2CA):c.373C>A (p.Gln125Lys) SNV Likely pathogenic 1028042 GRCh37: 5:133537652-133537652
GRCh38: 5:134201961-134201961
10 PPP2CA NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) Duplication Likely pathogenic 620081 rs864622012 GRCh37: 5:133533468-133533469
GRCh38: 5:134197777-134197778
11 PPP2CA NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) SNV Likely pathogenic 620082 rs1561733474 GRCh37: 5:133534840-133534840
GRCh38: 5:134199149-134199149
12 PPP2CA NM_002715.4(PPP2CA):c.391G>C (p.Asp131His) SNV Likely pathogenic 692144 rs1580637673 GRCh37: 5:133537634-133537634
GRCh38: 5:134201943-134201943
13 PPP2CA NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) SNV Likely pathogenic 692145 rs1580636668 GRCh37: 5:133536097-133536097
GRCh38: 5:134200406-134200406
14 PPP2CA NM_002715.4(PPP2CA):c.668A>T (p.Asp223Val) SNV Likely pathogenic 692146 rs1580636665 GRCh37: 5:133536096-133536096
GRCh38: 5:134200405-134200405
15 PPP2CA NM_002715.4(PPP2CA):c.380A>G (p.Tyr127Cys) SNV Likely pathogenic 692148 rs1580637688 GRCh37: 5:133537645-133537645
GRCh38: 5:134201954-134201954
16 PPP2CA NM_002715.4(PPP2CA):c.179G>T (p.Gly60Val) SNV Uncertain significance 692143 rs1580641099 GRCh37: 5:133541746-133541746
GRCh38: 5:134206055-134206055

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 PPP2CA p.Asp88Gly VAR_082065 rs156173700
2 PPP2CA p.Gln122His VAR_082066
3 PPP2CA p.Tyr127Cys VAR_082068
4 PPP2CA p.Asp131His VAR_082069
5 PPP2CA p.His191Arg VAR_082070 rs915349596
6 PPP2CA p.Asp223His VAR_082072
7 PPP2CA p.Asp223Val VAR_082073
8 PPP2CA p.Tyr265Cys VAR_082074 rs156173347

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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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