IDDSSBA
MCID: INT366
MIFTS: 17

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 57 12 73 6 17
Iddssba 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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)


HPO:

31
intellectual developmental disorder with short stature and behavioral abnormalities:
Inheritance autosomal recessive inheritance


Classifications:



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). Related phenotypes are global developmental delay and microcephaly

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...

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 visual impairment 31 very rare (1%) HP:0000505
4 short stature 31 very rare (1%) HP:0004322
5 intellectual disability, severe 31 very rare (1%) HP:0010864
6 absent speech 31 very rare (1%) HP:0001344
7 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
8 gait ataxia 31 very rare (1%) HP:0002066
9 status epilepticus 31 very rare (1%) HP:0002133
10 aggressive behavior 31 very rare (1%) HP:0000718
11 generalized hypotonia 31 very rare (1%) HP:0001290
12 delayed ability to walk 31 very rare (1%) HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 57 6
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 rs765723607 3:12977488-12977488 3:12935988-12935988
2 IQSEC1 NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln) SNV Pathogenic 695123 rs758170522 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 rs758170522
2 IQSEC1 p.Thr357Met VAR_083481 rs765723607

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