SGYMR
MCID: SKL011
MIFTS: 16

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

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Mental diseases

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

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

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 54 66 29 13
Sgymr 66

Characteristics:

HPO:

32
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612447
MedGen 40 C2676231

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

UniProtKB/Swiss-Prot : 66 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 intellectual disability, delayed skeletal maturation and microcephaly. 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: 612447

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

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

Symptoms by clinical synopsis from OMIM:

612447

Clinical features from OMIM:

612447

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 delayed skeletal maturation 32 HP:0002750
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 strabismus 32 HP:0000486
6 cryptorchidism 32 HP:0000028
7 narrow mouth 32 HP:0000160
8 thin vermilion border 32 HP:0000233
9 supernumerary ribs 32 HP:0005815
10 hypoplasia of the ulna 32 HP:0003022
11 micropenis 32 HP:0000054
12 aplasia/hypoplasia of the radius 32 HP:0006501
13 fibular hypoplasia 32 HP:0003038
14 absent thumb 32 HP:0009777
15 short tibia 32 HP:0005736
16 short femur 32 HP:0003097

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

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

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

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

id Genetic test Affiliating Genes
1 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 29

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

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

39
Bone

Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

66
id Symbol AA change Variation ID SNP ID
1 ZBTB16 p.Met617Val VAR_054912 rs121434606

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB16 NM_006006.4(ZBTB16): c.1849A> G (p.Met617Val) single nucleotide variant Pathogenic rs121434606 GRCh37 Chromosome 11, 114121104: 114121104

Expression for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

Pathways for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

GO Terms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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