IDDSSBA
MCID: INT366
MIFTS: 15

Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities (IDDSSBA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Short Stature and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

Name: Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities 56 12 73 6 17
Iddssba 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
seizure onset in early infancy (family b)
two unrelated consanguineous families have been reported (last curated december 2019)


Classifications:



External Ids:

Disease Ontology 12 DOID:0111674
OMIM 56 618687
MeSH 43 D065886
MedGen 41 CN262929

Summaries for Intellectual Developmental Disorder with Short Stature and...

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with short stature and behavioral abnormalities: An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression.

MalaCards based summary : Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities, is also known as iddssba. An important gene associated with Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities is IQSEC1 (IQ Motif And Sec7 Domain ArfGEF 1).

Disease Ontology : 12 A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has material basis in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1.

More information from OMIM: 618687

Related Diseases for Intellectual Developmental Disorder with Short Stature and...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Short Stature and...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
unsteady gait
ataxic gait
delayed walking
poor or absent speech
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
aggression
inattention

Head And Neck Head:
small head circumference (family a)

Head And Neck Eyes:
poor vision (1 patient from family a)

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
dysmorphic facial features, nonspecific (family a)

Clinical features from OMIM:

618687

Drugs & Therapeutics for Intellectual Developmental Disorder with Short Stature and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities

Genetic Tests for Intellectual Developmental Disorder with Short Stature and...

Anatomical Context for Intellectual Developmental Disorder with Short Stature and...

Publications for Intellectual Developmental Disorder with Short Stature and...

Articles related to Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

# Title Authors PMID Year
1
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. 6 56
31607425 2019

Variations for Intellectual Developmental Disorder with Short Stature and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IQSEC1 NM_001134382.3(IQSEC1):c.1028C>T (p.Thr343Met)SNV Pathogenic 695122 3:12977488-12977488 3:12935988-12935988
2 IQSEC1 NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln)SNV Pathogenic 695123 3:12977554-12977554 3:12936054-12936054

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities:

73
# Symbol AA change Variation ID SNP ID
1 IQSEC1 p.Arg335Gln VAR_083480
2 IQSEC1 p.Thr357Met VAR_083481

Expression for Intellectual Developmental Disorder with Short Stature and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities.

Pathways for Intellectual Developmental Disorder with Short Stature and...

GO Terms for Intellectual Developmental Disorder with Short Stature and...

Sources for Intellectual Developmental Disorder with Short Stature 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
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