MCID: RNN007
MIFTS: 7

Reunion Island Larsen-Like Syndrome

Categories: Bone diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Reunion Island Larsen-Like Syndrome

MalaCards integrated aliases for Reunion Island Larsen-Like Syndrome:

Name: Reunion Island Larsen-Like Syndrome 60
Multiple Joint Dislocations-Short Stature-Hyperlaxity-Craniofacial Dysmorphism Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
reunion island larsen-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q74.8
Orphanet 60 ORPHA294049

Summaries for Reunion Island Larsen-Like Syndrome

MalaCards based summary : Reunion Island Larsen-Like Syndrome, is also known as multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome. An important gene associated with Reunion Island Larsen-Like Syndrome is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include bone.

Related Diseases for Reunion Island Larsen-Like Syndrome

Symptoms & Phenotypes for Reunion Island Larsen-Like Syndrome

Drugs & Therapeutics for Reunion Island Larsen-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Reunion Island Larsen-Like Syndrome

Genetic Tests for Reunion Island Larsen-Like Syndrome

Anatomical Context for Reunion Island Larsen-Like Syndrome

MalaCards organs/tissues related to Reunion Island Larsen-Like Syndrome:

42
Bone

Publications for Reunion Island Larsen-Like Syndrome

Variations for Reunion Island Larsen-Like Syndrome

Expression for Reunion Island Larsen-Like Syndrome

Search GEO for disease gene expression data for Reunion Island Larsen-Like Syndrome.

Pathways for Reunion Island Larsen-Like Syndrome

GO Terms for Reunion Island Larsen-Like Syndrome

Sources for Reunion Island Larsen-Like Syndrome

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
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