DEFDA
MCID: DVL117
MIFTS: 8

Developmental Delay with Dysmorphic Facies and Dental Anomalies (DEFDA)

Categories: Genetic diseases

Aliases & Classifications for Developmental Delay with Dysmorphic Facies and Dental Anomalies

MalaCards integrated aliases for Developmental Delay with Dysmorphic Facies and Dental Anomalies:

Name: Developmental Delay with Dysmorphic Facies and Dental Anomalies 57 6
Defda 57

Classifications:



External Ids:

OMIM® 57 619228

Summaries for Developmental Delay with Dysmorphic Facies and Dental Anomalies

OMIM® : 57 Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present (summary by den Hoed et al., 2021). (619228) (Updated 05-Apr-2021)

MalaCards based summary : Developmental Delay with Dysmorphic Facies and Dental Anomalies, is also known as defda. An important gene associated with Developmental Delay with Dysmorphic Facies and Dental Anomalies is SATB1 (SATB Homeobox 1).

Related Diseases for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Symptoms & Phenotypes for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Clinical features from OMIM®:

619228 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Search Clinical Trials , NIH Clinical Center for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Genetic Tests for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Anatomical Context for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Publications for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Articles related to Developmental Delay with Dysmorphic Facies and Dental Anomalies:

# Title Authors PMID Year
1
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. 6 57
33513338 2021

Variations for Developmental Delay with Dysmorphic Facies and Dental Anomalies

ClinVar genetic disease variations for Developmental Delay with Dysmorphic Facies and Dental Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SATB1 NM_002971.6(SATB1):c.1228C>T (p.Arg410Ter) SNV Pathogenic 1043589 GRCh37: 3:18428082-18428082
GRCh38: 3:18386590-18386590
2 SATB1 NM_002971.6(SATB1):c.2080C>T (p.Gln694Ter) SNV Pathogenic 1043592 GRCh37: 3:18390874-18390874
GRCh38: 3:18349382-18349382

Expression for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Search GEO for disease gene expression data for Developmental Delay with Dysmorphic Facies and Dental Anomalies.

Pathways for Developmental Delay with Dysmorphic Facies and Dental Anomalies

GO Terms for Developmental Delay with Dysmorphic Facies and Dental Anomalies

Sources for Developmental Delay with Dysmorphic Facies and Dental Anomalies

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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