IDMDC
MCID: RCS010
MIFTS: 14

Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome (IDMDC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

MalaCards integrated aliases for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome:

Name: Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome 58
Spastic Paraplegia 18, Autosomal Recessive 70
Idmdc 58

Characteristics:

Orphanet epidemiological data:

58
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

MalaCards based summary : Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome, also known as spastic paraplegia 18, autosomal recessive, is related to spastic paraplegia 18, autosomal recessive and spastic paraplegia 18. An important gene associated with Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome is ERLIN2 (ER Lipid Raft Associated 2). Related phenotypes are developmental regression and intellectual disability, severe

Related Diseases for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Diseases related to Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 18, autosomal recessive 11.3
2 spastic paraplegia 18 11.0

Symptoms & Phenotypes for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Human phenotypes related to Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
4 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
5 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
6 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
7 ankle flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006466
8 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
9 febrile seizure (within the age range of 3 months to 6 years) 31 frequent (33%) HP:0002373
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
12 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
13 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
14 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
15 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
16 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
17 bilateral external ear deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0040111
18 hyperreflexia in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0007350
19 abnormal lumbar spine morphology 31 occasional (7.5%) HP:0100712
20 abnormality of the lumbar spine 58 Occasional (29-5%)
21 febrile seizures 58 Frequent (79-30%)
22 limb joint contracture 58 Very frequent (99-80%)

Drugs & Therapeutics for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Search Clinical Trials , NIH Clinical Center for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome

Genetic Tests for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Anatomical Context for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Publications for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Variations for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Expression for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Search GEO for disease gene expression data for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome.

Pathways for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

GO Terms for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Sources for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

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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