MCID: SKL011
MIFTS: 16

Skeletal Defects, Genital Hypoplasia, and Mental Retardation 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 51 69 26 12
 
Sgymr 69

Characteristics:

HPO:

63
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 612447
MedGen36 C2676231

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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UniProtKB/Swiss-Prot:69 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:51 612447

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

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Symptoms 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:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 HP:0000028
2 micropenis63 HP:0000054
3 narrow mouth63 HP:0000160
4 thin vermilion border63 HP:0000233
5 microcephaly63 HP:0000252
6 strabismus63 HP:0000486
7 intellectual disability63 HP:0001249
8 delayed skeletal maturation63 HP:0002750
9 hypoplasia of the ulna63 HP:0003022
10 fibular hypoplasia63 HP:0003038
11 short femur63 HP:0003097
12 short stature63 HP:0004322
13 short tibia63 HP:0005736
14 supernumerary ribs63 HP:0005815
15 aplasia/hypoplasia of the radius63 HP:0006501
16 absent thumb63 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 Retardation26

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:

35
Bone

Animal Models for Skeletal Defects, Genital Hypoplasia, and Mental Retardation or affiliated genes

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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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet