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smith-lemli-opitz syndrome - genetic multisystem disorder with small head and mental retardation
Definition for Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome (also called 7-dehydrocholesterol reductase deficiency) is a developmental disorder that affects many parts of the body.
more
Smith-Lemli-Opitz syndrome (also called 7-dehydrocholesterol reductase deficiency) is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), mental retardation or learning disabilities, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
less
some common symptoms
face deformities
heart murmur
not gaining weight
repetitive behavior
some related diagnoses
1 - 7 of
15
diagnoses
thalassemia intermedia
fetal alcohol syndrome
Turner's Syndrome
syphilis
relapsing polychondritis
multiple endocrine neoplasia type 2b
pituitary adenoma
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do i have 'Smith-Lemli-Opitz Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'smith-lemli-opitz syndrome'
1 - 5 of
31
diagnostic tests
plasma 7-dehydrocholesterol (7-DHC)
Smith-Lemli-Opitz Syndrome and plasma 7-dehydrocholesterol (7-DHC)
Chest X-ray
Radiological technique to image the chest
Smith-Lemli-Opitz Syndrome and Chest X-ray
Complete metabolic panel
Smith-Lemli-Opitz Syndrome and Complete metabolic panel
ECHOcardiogram
Smith-Lemli-Opitz Syndrome and ECHOcardiogram
EKG
Electrocardiogram
Smith-Lemli-Opitz Syndrome and EKG
Slit lamp examination
Smith-Lemli-Opitz Syndrome and Slit lamp examination
Ultrasonography kidneys ureter bladder
Smith-Lemli-Opitz Syndrome and Ultrasonography kidneys ureter bladder
fasting lipid profile
Smith-Lemli-Opitz Syndrome and fasting lipid profile
maternal serum unconjugated estriol
Smith-Lemli-Opitz Syndrome and maternal serum unconjugated estriol
vision tests
Smith-Lemli-Opitz Syndrome and vision tests
Anorectal Biopsy
Smith-Lemli-Opitz Syndrome and Anorectal Biopsy
Brain MRI
Smith-Lemli-Opitz Syndrome and Brain MRI
CT brain
Smith-Lemli-Opitz Syndrome and CT brain
Molecular Genetic Studies
Smith-Lemli-Opitz Syndrome and Molecular Genetic Studies
Abdominal ultrasonography
Ultrasound of abdominal contents
Smith-Lemli-Opitz Syndrome and Abdominal ultrasonography
Adrenocorticotropic Hormone (ACTH)
adrenocorticotropin hormone secreted by pituitary gland
Smith-Lemli-Opitz Syndrome and Adrenocorticotropic Hormone (ACTH)
Barium Enema
Introducing barium into the colon and rectum for radiologicial viewing of bowel
Smith-Lemli-Opitz Syndrome and Barium Enema
Barium Swallow
Smith-Lemli-Opitz Syndrome and Barium Swallow
Gastroscopy
Smith-Lemli-Opitz Syndrome and Gastroscopy
KUB
Smith-Lemli-Opitz Syndrome and KUB
Prenatal Ultrasound
Ultrasound on the fetus before birth
Smith-Lemli-Opitz Syndrome and Prenatal Ultrasound
Serum Cortisol
Smith-Lemli-Opitz Syndrome and Serum Cortisol
Brainstem auditory evoked response (BAER)
Smith-Lemli-Opitz Syndrome and Brainstem auditory evoked response (BAER)
CT scan
Smith-Lemli-Opitz Syndrome and CT scan
Comprehensive eye exam
Smith-Lemli-Opitz Syndrome and Comprehensive eye exam
Developmental testing
Smith-Lemli-Opitz Syndrome and Developmental testing
Fluoroscopy
Smith-Lemli-Opitz Syndrome and Fluoroscopy
cultured skin fibroblasts for biochemical study
Smith-Lemli-Opitz Syndrome and cultured skin fibroblasts for biochemical study
filipin staining of fibroblasts to measure cholesterol storage
Smith-Lemli-Opitz Syndrome and filipin staining of fibroblasts to measure cholesterol storage
fluoroscopic esophagogram
Smith-Lemli-Opitz Syndrome and fluoroscopic esophagogram
serum electrolytes
Smith-Lemli-Opitz Syndrome and serum electrolytes
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therapeutic procedures for 'Smith-Lemli-Opitz Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Smith-Lemli-Opitz Syndrome:
therapeutic procedure search results for 'smith-lemli-opitz syndrome'
1 - 5 of
10
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Fetal therapy
Smith-Lemli-Opitz Syndrome and Fetal therapy
Hearing aids
instruments to enable a person to hear
Smith-Lemli-Opitz Syndrome and Hearing aids
Cardiac surgery
Smith-Lemli-Opitz Syndrome and Cardiac surgery
Repair of cleft palate
Smith-Lemli-Opitz Syndrome and Repair of cleft palate
Physical and Occupational Therapy
Arthritis Physical and Occupational Therapy
Smith-Lemli-Opitz Syndrome and Physical and Occupational Therapy
Sun protection
Smith-Lemli-Opitz Syndrome and Sun protection
Orthopedic surgical care
Smith-Lemli-Opitz Syndrome and Orthopedic surgical care
Gastroscopy
Smith-Lemli-Opitz Syndrome and Gastroscopy
pyloromyotomy
Smith-Lemli-Opitz Syndrome and pyloromyotomy
Fetoscopy
Smith-Lemli-Opitz Syndrome and Fetoscopy
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medications search results for 'smith-lemli-opitz syndrome'
1 - 3 of
3
medications
rankings are computer generated. please consult your health care provider.
Cholesterol supplementation
Smith-Lemli-Opitz Syndrome and Cholesterol supplementation
Hormone replacement therapy
Smith-Lemli-Opitz Syndrome and Hormone replacement therapy
simvastatin
Smith-Lemli-Opitz Syndrome and simvastatin
web search results for smith-lemli-opitz syndrome
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1 - 50
- Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz syndrome - Wikipedia, the free encyclopedia
Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia) ... Smith-Lemli-Opitz syndrome has an autosomal recessive pattern of inheritance. ...
http://en.wikipedia.org/wiki/Smith-Lemli-Opitz_syndrome
en.wikipedia.org
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summary
Smith-Lemli-Opitz syndrome - Genetics Home Reference
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. ... Gene Review: Smith-Lemli-Opitz Syndrome ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome
ghr.nlm.nih.gov
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summary
Smith-Lemli-Opitz Syndrome -- GeneReviews -- NCBI Bookshelf
Classic Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and ... This disorder was termed Smith-Lemli-Opitz syndrome type II. With the advent of ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=slo
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome - Patient support - For patients and ...
... in the Genetics Home Reference condition summary on Smith-Lemli-Opitz syndrome. ... University of Kansas Medical Center. Smith-Lemli-Opitz/RSH Foundation ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/Patient+support
ghr.nlm.nih.gov
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summary
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal ... Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. ...
http://www.ncbi.nlm.nih.gov/pubmed/10899806
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Smith-Lemli-Opitz syndrome > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of ...
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7 ... The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of ...
http://www.ncbi.nlm.nih.gov/pubmed/10602371
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome - References - Genetics Home Reference
... Smith-Lemli-Opitz ... The Smith-Lemli-Opitz syndrome: a novel metabolic ... Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68 ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/References
ghr.nlm.nih.gov
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summary
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol ...
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis ... Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with ...
http://www.ncbi.nlm.nih.gov/pubmed/10719329
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome - MedlinePlus - Health information ...
Genetic Conditions > Smith-Lemli-Opitz syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Smith-Lemli-Opitz syndrome. ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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summary
DHCR7 and Smith-Lemli-Opitz syndrome.
... 318-20. DHCR7 and Smith-Lemli-Opitz syndrome. Nowaczyk MJ, Nakamura LM, Waye ... Smith-Lemli-Opitz Syndrome/therapy. Substances: Cholesterol. Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/11767235
www.ncbi.nlm.nih.gov
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summary
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ... Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of ...
http://www.ncbi.nlm.nih.gov/pubmed/11298379
www.ncbi.nlm.nih.gov
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summary
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in ...
... and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European ... BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal ...
http://www.ncbi.nlm.nih.gov/pubmed/17965227?ordinalpos=18&it...
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome is caused by mutations in the 7 ...
Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive ... Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in ...
http://www.ncbi.nlm.nih.gov/pubmed/9683613
www.ncbi.nlm.nih.gov
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summary
Photosensitivity in Smith-Lemli-Opitz syndrome: A flux balance analysis ...
Photosensitivity in Smith-Lemli-Opitz syndrome: A flux balance analysis of altered metabolism. ... with the metabolic disorder Smith-Lemli-Opitz syndrome (SLOS) ...
http://www.ncbi.nlm.nih.gov/pubmed/18188427?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Talk:Smith-Lemli-Opitz syndrome - Wikipedia, the free encyclopedia
Talk:Smith-Lemli-Opitz syndrome. From Wikipedia, the free encyclopedia ... edit · history · watch · refresh To-do list for Smith-Lemli-Opitz syndrome: ...
http://en.wikipedia.org/wiki/Talk:Smith-Lemli-Opitz_syndrome
en.wikipedia.org
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summary
Smith Lemli Opitz Syndrome - Yahoo! Health
Important It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/smith-lemli-opitz-syndro...
health.yahoo.com
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summary
2008 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ...
Smith-Lemli-Opitz Syndrome [C16.131.077.860] Trichothiodystrophy Syndromes [C16.131.077.899] ... Smith-Lemli-Opitz Syndrome [C16.320.565.398.850] ...
http://www.nlm.nih.gov/mesh/trees2008/C16.html
www.nlm.nih.gov
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summary
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8 ...
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G ... Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/11562938
www.ncbi.nlm.nih.gov
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summary
Smith-Lemli-Opitz syndrome - Educational resources - Information pages ...
Ask the Geneticist: Communication issues in Smith-Lemli-Opitz syndrome. Ask the Geneticist: Genetic testing for Smith-Lemli-Opitz syndrome ...
http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/sho...
ghr.nlm.nih.gov
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summary
WebMD Health A-Z - Find reliable health and medical information on ...
Smith Lemli Opitz Syndrome. Smith Magenis Syndrome. Smith-Magenis Chromosome Region. Smith-McCort Dysplasia. Smith-Opitz-Inborn Syndrome. Smoking and Life Span ...
http://www.webmd.com/a-to-z-guides/health-topics/sk-so.htm
www.webmd.com
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summary
Fountain syndrome - Wikipedia, the free encyclopedia
Fountain syndrome is an autosomal recessive ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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summary
Webbing of the fingers or toes
... syndrome. Hereditary syndactyly. Extremely rare causes: Apert syndrome ... Smith ... when taken together, define a specific syndrome or condition. ...
http://adam.about.com/encyclopedia/Webbing-of-the-fingers-or-toes.htm
adam.about.com
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summary
Dubowitz syndrome - Wikipedia, the free encyclopedia
... Syndrome is in investigating Smith-Lemli-Opitz syndrome (SLOS) ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Dubowitz_syndrome
en.wikipedia.org
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summary
DHCR7 - 7-dehydrocholesterol reductase - Genetics Home Reference
Smith-Lemli-Opitz syndrome - caused by mutations in the DHCR7 gene ... production leads to the specific features of Smith-Lemli-Opitz syndrome. ...
http://ghr.nlm.nih.gov/gene=dhcr7
ghr.nlm.nih.gov
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summary
Micrognathia
X0 syndrome (Turner syndrome) Progeria. Treacher-Collins syndrome. Smith-Lemli-Opitz syndrome. Russell-Silver syndrome. Seckel syndrome ...
http://adam.about.com/encyclopedia/Micrognathia.htm
adam.about.com
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summary
MedlinePlus Medical Encyclopedia: Micrognathia
X0 syndrome (Turner syndrome) Progeria. Treacher-Collins syndrome. Smith-Lemli-Opitz syndrome. Russell-Silver syndrome. Seckel syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/003306.htm
www.nlm.nih.gov
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summary
Keutel syndrome - Wikipedia, the free encyclopedia
Keutel syndrome is a rare autosomal recessive ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Keutel_syndrome
en.wikipedia.org
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summary
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz ...
... of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction ... and molecular data of 16 patients with RSH/Smith-Lemli-Opitz syndrome (RSH ...
http://www.ncbi.nlm.nih.gov/pubmed/10995508
www.ncbi.nlm.nih.gov
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summary
Identification of three patients with a very mild form of Smith-Lemli ...
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. ... Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation ...
http://www.ncbi.nlm.nih.gov/pubmed/12949967
www.ncbi.nlm.nih.gov
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summary
Overgrowth syndrome - Wikipedia, the free encyclopedia
Overgrowth syndrome is a group of genetic ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Overgrowth_syndrome
en.wikipedia.org
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summary
Endocrine system (hormones) - Genetics Home Reference
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome ... RSH Syndrome see Smith-Lemli-Opitz syndrome ... Smith-Lemli-Opitz syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=endocrinesystemhormones
ghr.nlm.nih.gov
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summary
Zimmerman-Laband syndrome - Wikipedia, the free encyclopedia
Zimmermann-Laband Syndrome - What does ZLS stand for? ... Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Zimmerman-Laband_syndrome
en.wikipedia.org
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Reproductive system - Genetics Home Reference
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome ... SLOS see Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=reproductivesystem
ghr.nlm.nih.gov
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Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients ...
... reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. ... The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an ...
http://www.ncbi.nlm.nih.gov/pubmed/10814720
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Webbing of the fingers or toes
... syndrome. Hereditary syndactyly. Extremely rare causes: Apert syndrome ... Smith ... when taken together, define a specific syndrome or condition. ...
http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm
www.nlm.nih.gov
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Biochemical and genetic aspects of 7-dehydrocholesterol reductase and ...
... aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. ... developmental disorders is Smith-Lemli-Opitz syndrome, an autosomal recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/11111101
www.ncbi.nlm.nih.gov
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DHCR7 - References - Genetics Home Reference
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ... A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J Lipid Res. ...
http://ghr.nlm.nih.gov/gene=dhcr7/show/References
ghr.nlm.nih.gov
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Encyclopedia S-Sz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Smith Lemli Opitz Syndrome. Smith Magenis ...
http://health.yahoo.com/ency/s/
health.yahoo.com
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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli ...
... mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for ... Smith-Lemli-Opitz syndrome/RSH (SLOS) is a multiple congenital anomaly syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/11175299
www.ncbi.nlm.nih.gov
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summary
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz ...
... 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. ... Smith-Lemli-Opitz syndrome (SLOS) is attributable to mutations in the gene ...
http://www.ncbi.nlm.nih.gov/pubmed/12906934
www.ncbi.nlm.nih.gov
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summary
Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz ...
Smith-Lemli-Opitz syndrome (SLOS) is a complex hereditary disease caused by an ... Smith-Lemli-Opitz Syndrome/physiopathology ...
http://www.ncbi.nlm.nih.gov/pubmed/18182048
www.ncbi.nlm.nih.gov
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summary
Impossible syndrome - Wikipedia, the free encyclopedia
Impossible Syndrome, or Chondrodysplasia situs ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Impossible_syndrome
en.wikipedia.org
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Pinna abnormalities and low-set ears
Beckwith-Wiedemann syndrome. Trisomy 13. Rubinstein-Taybi syndrome. Smith-Lemli-Opitz syndrome. When to Contact a Medical Professional ...
http://adam.about.com/encyclopedia/Pinna-abnormalities-and-low-set-ears.htm
adam.about.com
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Heart and circulation - Genetics Home Reference
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome ... RSH Syndrome see Smith-Lemli-Opitz syndrome. RSTS see Rubinstein-Taybi syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation
ghr.nlm.nih.gov
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summary
Vici syndrome - Wikipedia, the free encyclopedia
Vici syndrome is a rare autosomal recessive ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome ...
http://en.wikipedia.org/wiki/Vici_syndrome
en.wikipedia.org
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Mutational spectrum in the Delta7-sterol reductase gene and genotype ...
... phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. ... Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ...
http://www.ncbi.nlm.nih.gov/pubmed/10677299
www.ncbi.nlm.nih.gov
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summary
Homozygosity for the W151X stop mutation in the delta7-sterol reductase ...
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies syndrome ... Smith-Lemli-Opitz Syndrome/mortality. Substances: Codon, Terminator. Oxidoreductases ...
http://www.ncbi.nlm.nih.gov/pubmed/11078571
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Polydactyly
Carpenter syndrome. Ellis-van Creveld syndrome (chondroectodermal dysplasia) ... Laurence-Moon-Biedl syndrome. Rubinstein-Taybi syndrome. Smith-Lemli-Opitz syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/003176.htm
www.nlm.nih.gov
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Lowered DHCR7 activity measured by ergosterol conversion in multiple ...
... by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. ... Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of ...
http://www.ncbi.nlm.nih.gov/pubmed/15464432
www.ncbi.nlm.nih.gov
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