MCID: ART149
MIFTS: 11

Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis, Distal, with Mental Retardation and...

MalaCards integrated aliases for Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies:

Name: Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
arthrogryposis, distal, with mental retardation and characteristic facies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Distal, with Mental Retardation and...

MalaCards based summary : Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies Related phenotypes are intellectual disability and respiratory insufficiency

Description from OMIM: 208081

Related Diseases for Arthrogryposis, Distal, with Mental Retardation and...

Symptoms & Phenotypes for Arthrogryposis, Distal, with Mental Retardation and...

Human phenotypes related to Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 respiratory insufficiency 33 HP:0002093
3 decreased muscle mass 33 HP:0003199
4 narrow chest 33 HP:0000774
5 arthrogryposis multiplex congenita 33 HP:0002804
6 abnormality of the face 33 HP:0000271
7 respiratory failure 33 HP:0002878
8 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
Muscles:
decreased muscle mass

Lung:
respiratory failure
congenital hypoplasia

Joints:
arthrogryposis, distal

Limbs:
hands clenched

Thorax:
narrow chest

Neuro:
mental retardation

Facies:
chin grooved

Misc:
increased subcutaneous fat

Clinical features from OMIM:

208081

Drugs & Therapeutics for Arthrogryposis, Distal, with Mental Retardation and...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies

Genetic Tests for Arthrogryposis, Distal, with Mental Retardation and...

Anatomical Context for Arthrogryposis, Distal, with Mental Retardation and...

Publications for Arthrogryposis, Distal, with Mental Retardation and...

Variations for Arthrogryposis, Distal, with Mental Retardation and...

Expression for Arthrogryposis, Distal, with Mental Retardation and...

Search GEO for disease gene expression data for Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies.

Pathways for Arthrogryposis, Distal, with Mental Retardation and...

GO Terms for Arthrogryposis, Distal, with Mental Retardation and...

Sources for Arthrogryposis, Distal, with Mental Retardation and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....