MCID: HYP668
MIFTS: 7

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 53
Hypospadias Intellectual Deficit Goldblatt Type 53
Goldblatt Wallis Syndrome 53

Classifications:



Summaries for Hypospadias-Intellectual Disability, Goldblatt Type Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2261DefinitionHypospasdias 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 11.7

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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 hallmark (90%) HP:0001249
2 muscular hypotonia 32 hallmark (90%) HP:0001252
3 joint stiffness 32 hallmark (90%) HP:0001387
4 microcephaly 32 hallmark (90%) HP:0000252
5 hypospadias 32 hallmark (90%) HP:0000047
6 trigonocephaly 32 frequent (33%) HP:0000243
7 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
8 overfolded helix 32 frequent (33%) HP:0000396
9 midface retrusion 32 frequent (33%) HP:0011800
10 convex nasal ridge 32 frequent (33%) HP:0000444
11 abnormal palate morphology 32 frequent (33%) HP:0000174
12 synophrys 32 frequent (33%) HP:0000664
13 abnormal toenail morphology 32 frequent (33%) HP:0008388
14 abnormal fingernail morphology 32 frequent (33%) HP:0001231
15 clinodactyly of the 5th finger 32 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
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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