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 59
Multiple Joint Dislocations-Short Stature-Hyperlaxity-Craniofacial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
reunion island larsen-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q74.8
Orphanet 59 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:

41
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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