IDDALDS
MCID: INT378
MIFTS: 9

Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures (IDDALDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Autistic Features and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures:

Name: Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures 56
Iddalds 56

Classifications:



External Ids:

OMIM 56 618906

Summaries for Intellectual Developmental Disorder with Autistic Features and...

OMIM : 56 Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by Guo et al., 2019). (618906)

MalaCards based summary : Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures, is also known as iddalds. An important gene associated with Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures is TANC2 (Tetratricopeptide Repeat, Ankyrin Repeat And Coiled-Coil Containing 2). Affiliated tissues include brain.

Related Diseases for Intellectual Developmental Disorder with Autistic Features and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Autistic Features and...

Clinical features from OMIM:

618906

Drugs & Therapeutics for Intellectual Developmental Disorder with Autistic Features and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures

Genetic Tests for Intellectual Developmental Disorder with Autistic Features and...

Anatomical Context for Intellectual Developmental Disorder with Autistic Features and...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures:

40
Brain

Publications for Intellectual Developmental Disorder with Autistic Features and...

Articles related to Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures:

# Title Authors PMID Year
1
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 56
31616000 2019
2
De novo mutations in schizophrenia implicate synaptic networks. 56
24463507 2014
3
Diagnostic exome sequencing in persons with severe intellectual disability. 56
23033978 2012

Variations for Intellectual Developmental Disorder with Autistic Features and...

Expression for Intellectual Developmental Disorder with Autistic Features and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures.

Pathways for Intellectual Developmental Disorder with Autistic Features and...

GO Terms for Intellectual Developmental Disorder with Autistic Features and...

Sources for Intellectual Developmental Disorder with Autistic Features and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....