SOFM
MCID: SHR128
MIFTS: 19

Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay (SOFM)

Categories: Genetic diseases

Aliases & Classifications for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

MalaCards integrated aliases for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay:

Name: Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay 57 6
Sofm 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
phenotypic variability

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619234

Summaries for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

OMIM® : 57 SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020). (619234) (Updated 05-Apr-2021)

MalaCards based summary : Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay, is also known as sofm. An important gene associated with Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay is POLR3GL (RNA Polymerase III Subunit GL). Affiliated tissues include bone, cortex and thalamus.

Related Diseases for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Symptoms & Phenotypes for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
motor delay
hypotonia
ventriculomegaly, mild

Head And Neck Head:
microcephaly
prominent scalp veins
large anterior fontanel

Genitourinary Internal Genitalia Female:
delayed puberty

Head And Neck Ears:
low-set ears
posteriorly rotated ears
prominent ears

Head And Neck Mouth:
downturned corners of mouth
high-arched palate
small mouth
thin lips

Abdomen Gastrointestinal:
feeding difficulties

Genitourinary External Genitalia Female:
hypoplastic labia minora

Muscle Soft Tissue:
proximal weakness

Chest Ribs Sternum Clavicles And Scapulae:
sclerotic ribs

Skeletal:
endosteal hyperostosis, primarily of axial skeleton

Skeletal Pelvis:
diffuse hyperostosis
hyperostosis of iliac bone
hyperostosis of pubic bones

Neurologic Peripheral Nervous System:
reduced reflexes

Head And Neck Eyes:
hypertelorism
proptosis
short palpebral fissures
upslanting palpebral fissures
mild hypermetropia

Growth Height:
short stature

Head And Neck Face:
prominent forehead
midface hypoplasia
flat philtrum

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve

Head And Neck Nose:
choanal atresia
beaked nose
long columella
high bridge
hypoplasia of nasal bridge

Head And Neck Teeth:
oligodontia

Skeletal Spine:
thoracic kyphosis
lumbar hyperlordosis
sclerosis of c1 and c2
sclerosis of vertebral margins
sclerosis of vertebral arches

Skeletal Hands:
ulnar deviation of fingers
hyperextensible finger joints

Skeletal Feet:
club feet
toe syndactyly, 2-3
short toes

Skeletal Skull:
sclerotic thickening of neurocranium
sclerotic thickening of skull base

Skeletal Limbs:
hyperostosis of proximal femur

Clinical features from OMIM®:

619234 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Search Clinical Trials , NIH Clinical Center for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Genetic Tests for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Anatomical Context for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

MalaCards organs/tissues related to Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay:

40
Bone, Cortex, Thalamus

Publications for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Articles related to Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay:

(show top 50) (show all 76)
# Title Authors PMID Year
1
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 6 57
31695177 2020
2
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. 57 6
31089205 2020
3
Ecosystem service pattern of Fuzhou City based on ecosystem service bundles. 61
33754571 2021
4
Artificial Intelligence-Empowered Mobilization of Assessments in COVID-19-like Pandemics: A Case Study for Early Flattening of the Curve. 61
32423150 2020
5
A rainwater control optimization design approach for airports based on a self-organizing feature map neural network model. 61
31961903 2020
6
Checklist and provisional atlas of singing cicadas (Hemiptera: Cicadidae) of Bulgaria, based on bioacoustics. 61
33117074 2020
7
Neural Classification of Compost Maturity by Means of the Self-Organising Feature Map Artificial Neural Network and Learning Vector Quantization Algorithm. 61
31500258 2019
8
Enhanced rhizoremediation of crude oil-contaminated mangrove swamp soil using two wetland plants (Phragmites australis and Eichhornia crassipes). 61
30993597 2019
9
Multifunctional landscapes identification and associated development zoning in mountainous area. 61
30743962 2019
10
Protein Remote Homology Detection and Fold Recognition Based on Sequence-Order Frequency Matrix. 61
29990004 2019
11
2-D quantization scheme utilizing SOFM neural network clustering for a DRoF system. 61
30272709 2018
12
Validation and Evaluation of the Effects of Semi-Occluded Face Mask Straw Phonation Therapy Methods on Aerodynamic Parameters in Comparison to Traditional Methods. 61
27210476 2017
13
Typha latifolia (broadleaf cattail) as bioindicator of different types of pollution in aquatic ecosystems-application of self-organizing feature map (neural network). 61
27044291 2016
14
Wear Scar Similarities between Retrieved and Simulator-Tested Polyethylene TKR Components: An Artificial Neural Network Approach. 61
27597955 2016
15
Grid topologies for the self-organizing map. 61
24861385 2014
16
Macro- and microelement distribution in organs of Glyceria maxima and biomonitoring applications. 61
24549943 2014
17
Application of self-organizing feature maps to analyze the relationships between ignitable liquids and selected mass spectral ions. 61
24529778 2014
18
An adaptive neuromorphic model of ocular dominance map using floating gate 'synapse'. 61
23648171 2013
19
[Landscape regionalization of agro-pastoral transitional zone using self-organizing feature maps (SOFM) network: a case study of Inner Mongolia Autonomous Region, China]. 61
24015537 2013
20
[Application of Kohonen Self-Organizing Feature Maps in QSAR of human ADMET and kinase data sets]. 61
24575660 2013
21
A promising tool to achieve chemical accuracy for density functional theory calculations on Y-NO homolysis bond dissociation energies. 61
22942689 2012
22
Classification and source determination of medium petroleum distillates by chemometric and artificial neural networks: a self organizing feature approach. 61
21919512 2011
23
Application of unsupervised chemometric analysis and self-organizing feature map (SOFM) for the classification of lighter fuels. 61
20597464 2010
24
Surface reconstruction of torsos with and without scoliosis. 61
19647258 2009
25
Self-organizing feature map (neural networks) as a tool to select the best indicator of road traffic pollution (soil, leaves or bark of Robinia pseudoacacia L.). 61
19282074 2009
26
Bioindication of trace metals in Brachythecium rutabulum around a copper smelter in Legnica (Southwest Poland): Use of a new form of data presentation in the form of a self-organizing feature map. 61
18931962 2009
27
A computational framework for topographies of cortical areas. 61
19221784 2009
28
Critical periods and catastrophic interference effects in the development of self-organizing feature maps. 61
18466371 2008
29
A hybrid machine learning-based method for classifying the Cushing's Syndrome with comorbid adrenocortical lesions. 61
18366613 2008
30
Characterization of humic substances of different origin by means of mass spectrometry and neural networks. 61
17420037 2007
31
Self-organizing feature map (neural networks) as a tool in classification of the relations between chemical composition of aquatic bryophytes and types of streambeds in the Tatra national park in Poland. 61
17166549 2007
32
A real-time EMG pattern recognition system based on linear-nonlinear feature projection for a multifunction myoelectric hand. 61
17073328 2006
33
[Computer-aided diagnosis of fatty liver based on ultrasonic images]. 61
17002094 2006
34
Classification of motor commands using a modified self-organising feature map. 61
15863349 2005
35
[Kohonen network study of the results of RAPD and ISSR analyses of genomic polymorphism in the genus Capsicum L]. 61
15810617 2005
36
Automated Sleep Staging by a Hybrid System Comprising Neural Network and Fuzzy Rule-based Reasoning. 61
17281138 2005
37
Promoting effect of amino acids added to a chemically defined medium on blastocyst formation and blastomere proliferation of bovine embryos cultured in vitro. 61
15302369 2004
38
The classification of oesophageal 24 h pH measurements using a Kohonen self-organizing feature map. 61
15253122 2004
39
Automatic recognition of small cell carcinoma based on the self-organizing neural network. 61
15156108 2004
40
Computer aided interactive remote diagnosis using self-organizing maps. 61
17270958 2004
41
Feature encoding for unsupervised segmentation of color images. 61
18238190 2003
42
A SOFM approach to predicting HIV drug resistance. 61
11928520 2002
43
Adaptive color reduction. 61
18238103 2002
44
Feature extraction of chromosomes from 3-D confocal microscope images. 61
11686629 2001
45
Classification of rapeseed and soybean oils by use of unsupervised pattern-recognition methods and neural networks. 61
11688644 2001
46
Fluorescent image classification by major color histograms and a neural network. 61
19417814 2001
47
Some novel classifiers designed using prototypes extracted by a new scheme based on self-organizing feature map. 61
18244854 2001
48
Mapping and fuzzy classification of macromolecular images using self-organizing neural networks. 61
10896143 2000
49
Classification of passive auditory event-related potentials using discriminant analysis and self-organizing feature maps. 61
10720823 2000
50
Detection of epileptiform discharges in the EEG by a hybrid system comprising mimetic, self-organized artificial neural network, and fuzzy logic stages. 61
10616110 1999

Variations for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

ClinVar genetic disease variations for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3GL NM_032305.3(POLR3GL):c.326-1G>A SNV Pathogenic 617636 rs1553763618 GRCh37: 1:145457605-145457605
GRCh38: 1:145977482-145977482
2 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>A SNV Pathogenic 617676 rs782661984 GRCh37: 1:145460264-145460264
GRCh38: 1:145974824-145974824
3 POLR3GL NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter) SNV Pathogenic 1027603 GRCh37: 1:145457572-145457572
GRCh38: 1:145977515-145977515

Expression for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Search GEO for disease gene expression data for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay.

Pathways for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

GO Terms for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

Sources for Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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