MCID: SKL011
MIFTS: 18

Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

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

MalaCards integrated aliases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 53 71 36 28 13
Sgymr 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
HeadAndNeckHead:
microcephaly

GrowthHeight:
short stature

GenitourinaryInternalGenitaliaMale:
cryptorchidism

HeadAndNeckMouth:
small mouth
thin lips

NeurologicCentralNervousSystem:
mental retardation

HeadAndNeckFace:
dysmorphic face

SkeletalHands:
absent thumbs, bilaterally

SkeletalSkull:
microcephaly

HeadAndNeckEyes:
strabismus

GenitourinaryExternalGenitaliaMale:
micropenis

SkeletalLimbs:
delayed bone age
ulnar hypoplasia
radial aplasia/hypoplasia
shortened humeri
shortened femurs
more
ChestRibsSternumClaviclesAndScapulae:
13 pairs of ribs
hypoplastic right clavicle
hypoplastic right scapula

HeadAndNeckEars:
protruding right ear

SkeletalFeet:
bifid hallux, unilateral


Clinical features from OMIM:

612447

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 delayed skeletal maturation 31 HP:0002750
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 strabismus 31 HP:0000486
6 cryptorchidism 31 HP:0000028
7 narrow mouth 31 HP:0000160
8 thin vermilion border 31 HP:0000233
9 supernumerary ribs 31 HP:0005815
10 hypoplasia of the ulna 31 HP:0003022
11 micropenis 31 HP:0000054
12 aplasia/hypoplasia of the radius 31 HP:0006501
13 fibular hypoplasia 31 HP:0003038
14 short tibia 31 HP:0005736
15 short femur 31 HP:0003097
16 absent thumb 31 HP:0009777

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:

# Genetic test Affiliating Genes
1 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 28 ZBTB16

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

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

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB16 NM_006006.5(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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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