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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 respiratory insufficiency 32 HP:0002093
3 decreased muscle mass 32 HP:0003199
4 narrow chest 32 HP:0000774
5 arthrogryposis multiplex congenita 32 HP:0002804
6 abnormality of the face 32 HP:0000271
7 respiratory failure 32 HP:0002878
8 distal arthrogryposis 32 HP:0005684

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 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
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