MCID: HYP668
MIFTS: 8

Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Categories: Rare diseases

Aliases & Classifications for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

MalaCards integrated aliases for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome:

Name: Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 54
Hypospadias Intellectual Deficit Goldblatt Type 54
Goldblatt Wallis Syndrome 54

Classifications:



Summaries for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2261Disease definitionHypospasdias ? intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypospadias-Intellectual Disability, Goldblatt Type Syndrome, also known as hypospadias intellectual deficit goldblatt type, is related to hypospadias-mental retardation syndrome. Related phenotypes are intellectual disability and muscular hypotonia

Related Diseases for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Diseases related to Hypospadias-Intellectual Disability, Goldblatt Type Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypospadias-mental retardation syndrome 11.5

Symptoms & Phenotypes for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Human phenotypes related to Hypospadias-Intellectual Disability, Goldblatt Type Syndrome:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 hallmark (90%) HP:0001249
2 muscular hypotonia 33 hallmark (90%) HP:0001252
3 joint stiffness 33 hallmark (90%) HP:0001387
4 microcephaly 33 hallmark (90%) HP:0000252
5 hypospadias 33 hallmark (90%) HP:0000047
6 trigonocephaly 33 frequent (33%) HP:0000243
7 low-set, posteriorly rotated ears 33 frequent (33%) HP:0000368
8 overfolded helix 33 frequent (33%) HP:0000396
9 midface retrusion 33 frequent (33%) HP:0011800
10 convex nasal ridge 33 frequent (33%) HP:0000444
11 abnormal palate morphology 33 frequent (33%) HP:0000174
12 synophrys 33 frequent (33%) HP:0000664
13 abnormal toenail morphology 33 frequent (33%) HP:0008388
14 abnormal fingernail morphology 33 frequent (33%) HP:0001231
15 clinodactyly of the 5th finger 33 occasional (7.5%) HP:0004209

Drugs & Therapeutics for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Search Clinical Trials , NIH Clinical Center for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Genetic Tests for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Anatomical Context for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Publications for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Variations for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Expression for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Search GEO for disease gene expression data for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome.

Pathways for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

GO Terms for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

Sources for Hypospadias-Intellectual Disability, Goldblatt Type 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
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55 NINDS
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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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