GDDI
MCID: GLB025
MIFTS: 9

Global Developmental Delay with or Without Impaired Intellectual Development (GDDI)

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay with or Without Impaired Intellectual...

MalaCards integrated aliases for Global Developmental Delay with or Without Impaired Intellectual Development:

Name: Global Developmental Delay with or Without Impaired Intellectual Development 58 6
Gddi 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)
two sibs who inherited cux1 mutation from mildly affected mother have been described (last curated february 2019)


Classifications:



External Ids:

OMIM 58 618330

Summaries for Global Developmental Delay with or Without Impaired Intellectual...

MalaCards based summary : Global Developmental Delay with or Without Impaired Intellectual Development, is also known as gddi. An important gene associated with Global Developmental Delay with or Without Impaired Intellectual Development is CUX1 (Cut Like Homeobox 1).

Description from OMIM: 618330

Related Diseases for Global Developmental Delay with or Without Impaired Intellectual...

Symptoms & Phenotypes for Global Developmental Delay with or Without Impaired Intellectual...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
hypotonia (in some patients)
intellectual disability, mild to moderate (in some patients)

Growth Weight:
short stature (in some patients)

Clinical features from OMIM:

618330

Drugs & Therapeutics for Global Developmental Delay with or Without Impaired Intellectual...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay with or Without Impaired Intellectual Development

Genetic Tests for Global Developmental Delay with or Without Impaired Intellectual...

Anatomical Context for Global Developmental Delay with or Without Impaired Intellectual...

Publications for Global Developmental Delay with or Without Impaired Intellectual...

Articles related to Global Developmental Delay with or Without Impaired Intellectual Development:

# Title Authors Year
1
Global dust Detection Index (GDDI); a new remotely sensed methodology for dust storms detection. ( 24406015 )
2014
2
A new hierarchical parallelization scheme: generalized distributed data interface (GDDI), and an application to the fragment molecular orbital method (FMO). ( 15011259 )
2004

Variations for Global Developmental Delay with or Without Impaired Intellectual...

ClinVar genetic disease variations for Global Developmental Delay with or Without Impaired Intellectual Development:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUX1 NM_181552.4(CUX1): c.2365del (p.Gln789Argfs) deletion Pathogenic GRCh38 Chromosome 7, 102201662: 102201662
2 CUX1 NM_181552.4(CUX1): c.2365del (p.Gln789Argfs) deletion Pathogenic GRCh37 Chromosome 7, 101844942: 101844942
3 CUX1 NM_181552.4(CUX1): c.2584C> T (p.Gln862Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 102201881: 102201881
4 CUX1 NM_181552.4(CUX1): c.2584C> T (p.Gln862Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 101845161: 101845161
5 CUX1 NM_181552.4(CUX1): c.3164dup (p.Ala1056Cysfs) duplication Pathogenic GRCh38 Chromosome 7, 102227400: 102227400
6 CUX1 NM_181552.4(CUX1): c.3164dup (p.Ala1056Cysfs) duplication Pathogenic GRCh37 Chromosome 7, 101870680: 101870680
7 CUX1 NM_181552.4(CUX1): c.3750_3751dup (p.Leu1251Argfs) duplication Pathogenic GRCh37 Chromosome 7, 101882727: 101882728
8 CUX1 NM_181552.4(CUX1): c.3750_3751dup (p.Leu1251Argfs) duplication Pathogenic GRCh38 Chromosome 7, 102239447: 102239448
9 CUX1 CUX1, EX9-24DEL deletion Pathogenic
10 CUX1 NM_001913.4(CUX1): c.61C> T (p.Gln21Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 101459371: 101459371
11 CUX1 NM_001913.4(CUX1): c.61C> T (p.Gln21Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 101816091: 101816091

Expression for Global Developmental Delay with or Without Impaired Intellectual...

Search GEO for disease gene expression data for Global Developmental Delay with or Without Impaired Intellectual Development.

Pathways for Global Developmental Delay with or Without Impaired Intellectual...

GO Terms for Global Developmental Delay with or Without Impaired Intellectual...

Sources for Global Developmental Delay with or Without Impaired Intellectual...

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
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35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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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
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