SGYMR
MCID: SKL011
MIFTS: 16

Skeletal Defects, Genital Hypoplasia, and Mental Retardation (SGYMR) malady

Categories: Genetic diseases (common), Neuronal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Aliases & Descriptions for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 52 70 27 12
 
Sgymr 70

Characteristics:

HPO:

64
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 612447
MedGen37 C2676231

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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UniProtKB/Swiss-Prot:70 Skeletal defects, genital hypoplasia, and mental retardation: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.

MalaCards based summary: Skeletal Defects, Genital Hypoplasia, and Mental Retardation, is also known as SGYMR, and has symptoms including cryptorchidism, micropenis and narrow mouth. An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (Zinc Finger And BTB Domain Containing 16). Affiliated tissues include bone.

Description from OMIM:52 612447

Related Diseases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms & Phenotypes for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms by clinical synopsis from OMIM:

612447

Clinical features from OMIM:

612447

Human phenotypes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 micropenis64 HP:0000054
3 narrow mouth64 HP:0000160
4 thin vermilion border64 HP:0000233
5 microcephaly64 HP:0000252
6 strabismus64 HP:0000486
7 intellectual disability64 HP:0001249
8 delayed skeletal maturation64 HP:0002750
9 hypoplasia of the ulna64 HP:0003022
10 fibular hypoplasia64 HP:0003038
11 short femur64 HP:0003097
12 short stature64 HP:0004322
13 short tibia64 HP:0005736
14 supernumerary ribs64 HP:0005815
15 aplasia/hypoplasia of the radius64 HP:0006501
16 absent thumb64 HP:0009777

Drugs & Therapeutics for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Genetic Tests for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Genetic tests related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

id Genetic test Affiliating Genes
1 Skeletal Defects, Genital Hypoplasia, and Mental Retardation27

Anatomical Context for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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MalaCards organs/tissues related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

36
Bone

Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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UniProtKB/Swiss-Prot genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

70
id Symbol AA change Variation ID SNP ID
1ZBTB16p.Met617ValVAR_054912rs121434606

Clinvar genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZBTB16NM_ 006006.4(ZBTB16): c.1849A> G (p.Met617Val)SNVPathogenicrs121434606GRCh37Chr 11, 114121104: 114121104

Expression for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Search GEO for disease gene expression data for Skeletal Defects, Genital Hypoplasia, and Mental Retardation.

Pathways for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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GO Terms for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet