IDDECA
MCID: INT327
MIFTS: 14

Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia (IDDECA)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with or Without Epilepsy or...

MalaCards integrated aliases for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

Name: Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia 57 75 6
Iddeca 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
intellectual developmental disorder with or without epilepsy or cerebellar ataxia:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Intellectual Developmental Disorder with or Without Epilepsy or...

UniProtKB/Swiss-Prot : 75 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia: An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy.

MalaCards based summary : Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia, is also known as iddeca. An important gene associated with Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia is RORA (RAR Related Orphan Receptor A). Related phenotypes are nystagmus and intellectual disability

Description from OMIM: 618060

Related Diseases for Intellectual Developmental Disorder with or Without Epilepsy or...

Symptoms & Phenotypes for Intellectual Developmental Disorder with or Without Epilepsy or...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
oculomotor apraxia
esotropia

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
ataxia
tremor
motor delay
incoordination
developmental delay
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder


Clinical features from OMIM:

618060

Human phenotypes related to Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 tremor 32 HP:0001337
6 global developmental delay 32 HP:0001263
7 delayed speech and language development 32 HP:0000750
8 motor delay 32 HP:0001270
9 cerebellar hypoplasia 32 very rare (1%) HP:0001321
10 pontocerebellar atrophy 32 very rare (1%) HP:0006879
11 oculomotor apraxia 32 HP:0000657
12 incoordination 32 HP:0002311
13 esotropia 32 HP:0000565

Drugs & Therapeutics for Intellectual Developmental Disorder with or Without Epilepsy or...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia

Genetic Tests for Intellectual Developmental Disorder with or Without Epilepsy or...

Anatomical Context for Intellectual Developmental Disorder with or Without Epilepsy or...

Publications for Intellectual Developmental Disorder with or Without Epilepsy or...

Variations for Intellectual Developmental Disorder with or Without Epilepsy or...

ClinVar genetic disease variations for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RORA NM_134260.2(RORA): c.1118delG (p.Arg373Profs) deletion Pathogenic/Likely pathogenic rs1057518981 GRCh37 Chromosome 15, 60795790: 60795790
2 RORA NM_134260.2(RORA): c.1118delG (p.Arg373Profs) deletion Pathogenic/Likely pathogenic rs1057518981 GRCh38 Chromosome 15, 60503591: 60503591
3 RORA NM_134261.2(RORA): c.804_805delGT (p.Ser269Hisfs) deletion Pathogenic GRCh38 Chromosome 15, 60511241: 60511242
4 RORA NM_134261.2(RORA): c.804_805delGT (p.Ser269Hisfs) deletion Pathogenic GRCh37 Chromosome 15, 60803440: 60803441
5 RORA NM_134261.2(RORA): c.1385G> A (p.Arg462Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 60792113: 60792113
6 RORA NM_134261.2(RORA): c.1385G> A (p.Arg462Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 60499914: 60499914
7 RORA NM_134261.2(RORA): c.275G> C (p.Gly92Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 60531773: 60531773
8 RORA NM_134261.2(RORA): c.275G> C (p.Gly92Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 60823972: 60823972
9 RORA NM_134261.2(RORA): c.281A> G (p.Lys94Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 60823966: 60823966
10 RORA NM_134261.2(RORA): c.281A> G (p.Lys94Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 60531767: 60531767

Expression for Intellectual Developmental Disorder with or Without Epilepsy or...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia.

Pathways for Intellectual Developmental Disorder with or Without Epilepsy or...

GO Terms for Intellectual Developmental Disorder with or Without Epilepsy or...

Sources for Intellectual Developmental Disorder with or Without Epilepsy or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....