MCID: SPN339
MIFTS: 10

Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards integrated aliases for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome:

Name: Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA329252

Summaries for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards based summary : Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome Affiliated tissues include bone, and related phenotypes are intellectual disability, mild and disproportionate short-trunk short stature

Related Diseases for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Symptoms & Phenotypes for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Human phenotypes related to Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
2 disproportionate short-trunk short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003521
3 clubbing of toes 58 31 frequent (33%) Frequent (79-30%) HP:0100760
4 cutaneous finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0010554
5 clubbing of fingers 58 31 frequent (33%) Frequent (79-30%) HP:0100759
6 penile hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0003244
7 penoscrotal hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000808
8 thoracolumbar scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002944
9 abnormality of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000326
10 swan neck-like deformities of the fingers 58 31 frequent (33%) Frequent (79-30%) HP:0006150
11 superiorly displaced ears 58 31 frequent (33%) Frequent (79-30%) HP:0008541
12 short stature 58 Frequent (79-30%)

Drugs & Therapeutics for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome

Genetic Tests for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Anatomical Context for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

MalaCards organs/tissues related to Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome:

40
Bone

Publications for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Variations for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Expression for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Search GEO for disease gene expression data for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome.

Pathways for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

GO Terms for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

Sources for Spondylocostal Dysostosis-Hypospadias-Intellectual Disability...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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