SLOS
MCID: SMT004
MIFTS: 68

Smith-Lemli-Opitz Syndrome (SLOS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Smith-Lemli-Opitz Syndrome

MalaCards integrated aliases for Smith-Lemli-Opitz Syndrome:

Name: Smith-Lemli-Opitz Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Rsh Syndrome 58 25 54 26 60 76
Slos 58 25 54 26 60 76
Slo Syndrome 58 25 54 26 76
Rutledge Lethal Multiple Congenital Anomaly Syndrome 58 12 54 76
7-Dehydrocholesterol Reductase Deficiency 54 26 60 74
Lethal Acrodysgenital Syndrome 58 54
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobular Lung 54
Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung 58
Smith-Lemli-Opitz Syndrome, Type Ii 74
Smith-Opitz-Inborn Syndrome 12
Smith Lemli Opitz Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
smith-lemli-opitz syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
estimated incidence 1/20,000 - 1/40,000


HPO:

33
smith-lemli-opitz syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14692
OMIM 58 270400
KEGG 38 H00161
MeSH 45 D019082
NCIt 51 C85071
SNOMED-CT 69 43929004
ICD10 34 E78.72
MESH via Orphanet 46 D019082
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C0175694 C2713347
Orphanet 60 ORPHA818
SNOMED-CT via HPO 70 103276001 111266001 11296007 more

Summaries for Smith-Lemli-Opitz Syndrome

OMIM : 58 Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe (Opitz et al., 1987; Cunniff et al., 1997; Kelley, 1998). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome (Tint et al., 1994) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by Opitz and de la Cruz (1994). Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by Kelley (1997). Kelley (1998) referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. Opitz et al. (1987) gave a presumedly complete bibliography of the SLO syndrome, which was updated by Opitz et al. (1994) and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS; 146510) is not justified. In a given severe case, differentiation from the Meckel syndrome (249000) may be a challenge. Herman (2003) reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; 215140). (270400)

MalaCards based summary : Smith-Lemli-Opitz Syndrome, also known as rsh syndrome, is related to xanthomatosis and macular degeneration, age-related, 1, and has symptoms including seizures, constipation and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs Simvastatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and eye, and related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 26 Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. 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).

NIH Rare Diseases : 54 Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern.

UniProtKB/Swiss-Prot : 76 Smith-Lemli-Opitz syndrome: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

Wikipedia : 77 Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive,... more...

GeneReviews: NBK1143

Related Diseases for Smith-Lemli-Opitz Syndrome

Diseases related to Smith-Lemli-Opitz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 86, show less)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 30.1 APOE HMGCR LDLR
2 macular degeneration, age-related, 1 29.6 ABCA1 APOE KCNMA1
3 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.6
4 lathosterolosis 11.9
5 opitz gbbb syndrome, type i 11.7
6 van buchem disease 11.6
7 greenberg dysplasia 11.6
8 retinal degeneration 10.8
9 hirschsprung disease 1 10.7
10 autism 10.6
11 polydactyly 10.6
12 cataract 10.6
13 holoprosencephaly 10.6
14 heart disease 10.5
15 malignant hyperthermia 10.5
16 chromosomal triplication 10.5
17 renal hypoplasia 10.4
18 pallister-hall syndrome 10.4
19 pancreas, annular 10.4
20 polydactyly, postaxial, type a1 10.4
21 split-hand/foot malformation 1 10.4
22 chromosome 2q35 duplication syndrome 10.4
23 down syndrome 10.4
24 renal hypodysplasia/aplasia 1 10.4
25 cerebrotendinous xanthomatosis 10.4
26 chondrodysplasia punctata syndrome 10.4
27 hydrolethalus syndrome 1 10.4
28 miller-dieker lissencephaly syndrome 10.4
29 pseudotrisomy 13 syndrome 10.4
30 chromosome 16p13.3 deletion syndrome, proximal 10.4
31 46,xy sex reversal 3 10.4
32 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
33 pulmonary hypertension 10.4
34 visceral heterotaxy 10.4
35 autism spectrum disorder 10.4
36 sclerocornea 10.4
37 mucolipidosis 10.4
38 patau syndrome 10.4
39 cholestasis 10.4
40 polyneuropathy 10.4
41 hypothyroidism 10.4
42 brain germinoma 10.4
43 germinoma 10.4
44 pseudohermaphroditism 10.4
45 achalasia 10.4
46 46, xy disorders of sexual development 10.4
47 5-alpha reductase deficiency 10.4
48 dwarfism 10.4
49 germ cells tumors 10.4
50 precocious puberty 10.4
51 pulmonary vein stenosis 10.4
52 mixed germ cell tumor 10.4
53 isolated split hand-split foot malformation 10.4
54 renal dysplasia 10.4
55 salla disease 10.1
56 macular holes 10.1
57 hyperlipoproteinemia, type v 10.1 APOE HMGCR
58 sitosterolemia 10.0 FDFT1 HMGCR
59 hemorrhage, intracerebral 10.0 APOE HMGCR
60 talipes equinovarus 10.0
61 macular dystrophy, dominant cystoid 10.0
62 myopia 10.0
63 diarrhea 10.0
64 papilledema 10.0
65 macular retinal edema 10.0
66 retinal disease 10.0
67 hypolipoproteinemia 10.0 ABCA1 APOE
68 hypercholesterolemia, autosomal dominant, type b 9.8 APOE LDLR
69 lipoprotein glomerulopathy 9.8 APOE LDLR
70 sea-blue histiocyte disease 9.8 APOE LDLR
71 hypoalphalipoproteinemia, primary 9.8 ABCA1 LDLR
72 defective apolipoprotein b-100 9.7 APOE HMGCR LDLR
73 homozygous familial hypercholesterolemia 9.7 APOE HMGCR LDLR
74 hyperlipoproteinemia, type iii 9.7 APOE HMGCR LDLR
75 familial hyperlipidemia 9.7 APOE HMGCR LDLR
76 arcus corneae 9.7 APOE LDLR
77 aortic atherosclerosis 9.6 ABCA1 APOE LDLR
78 hyperalphalipoproteinemia 1 9.6 ABCA1 APOE LDLR
79 arteries, anomalies of 9.6 ABCA1 APOE LDLR
80 atherosclerosis susceptibility 9.6 ABCA1 APOE LDLR
81 lecithin:cholesterol acyltransferase deficiency 9.5 APOE LDLR
82 lipid metabolism disorder 9.5 ABCA1 APOE HMGCR LDLR
83 coronary heart disease 1 9.4 ABCA1 APOE HMGCR LDLR
84 hypercholesterolemia, familial 9.4 ABCA1 APOE HMGCR LDLR
85 vascular disease 9.4 ABCA1 APOE HMGCR LDLR
86 myocardial infarction 9.3 ABCA1 APOE HMGCR LDLR

Graphical network of the top 20 diseases related to Smith-Lemli-Opitz Syndrome:



Diseases related to Smith-Lemli-Opitz Syndrome

Symptoms & Phenotypes for Smith-Lemli-Opitz Syndrome

Human phenotypes related to Smith-Lemli-Opitz Syndrome:

60 33 (showing 158, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
7 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
8 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
9 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
11 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
12 increased nuchal translucency 60 33 hallmark (90%) Very frequent (99-80%) HP:0010880
13 2-3 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0004691
14 elevated 7-dehydrocholesterol 60 33 hallmark (90%) Very frequent (99-80%) HP:0010569
15 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
16 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
17 self-injurious behavior 60 33 frequent (33%) Frequent (79-30%) HP:0100716
18 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
19 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
20 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
21 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
22 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
23 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
24 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
25 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
26 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
27 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
28 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
29 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
30 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
31 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
32 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
33 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
34 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
35 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
36 ventricular septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001629
37 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
38 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
39 tracheal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0002777
40 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
41 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
42 proximal placement of thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009623
43 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
44 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
45 atrioventricular canal defect 60 33 frequent (33%) Frequent (79-30%) HP:0006695
46 pulmonary hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002089
47 cutis marmorata 60 33 frequent (33%) Frequent (79-30%) HP:0000965
48 abnormal lung lobation 60 33 frequent (33%) Frequent (79-30%) HP:0002101
49 excessive daytime somnolence 60 33 frequent (33%) Frequent (79-30%) HP:0001262
50 abnormality of the larynx 60 33 frequent (33%) Frequent (79-30%) HP:0001600
51 facial capillary hemangioma 60 33 frequent (33%) Frequent (79-30%) HP:0000996
52 clitoral hypertrophy 33 frequent (33%) HP:0008665
53 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
54 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
55 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
56 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
57 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
58 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
59 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
60 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
61 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
62 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
63 abnormality of the gallbladder 60 33 occasional (7.5%) Occasional (29-5%) HP:0005264
64 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
65 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
66 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
67 abnormal form of the vertebral bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003312
68 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
69 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
70 hypopigmentation of hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0005599
71 rhizomelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008905
72 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
73 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
74 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
75 increased number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0011069
76 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
77 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
78 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
79 choanal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000453
80 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
81 reduced number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0009804
82 split hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0001171
83 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
84 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
85 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
86 sclerocornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000647
87 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
88 ulnar deviation of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009465
89 aplasia/hypoplasia affecting the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0008056
90 ureteropelvic junction obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000074
91 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
92 abnormal localization of kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0100542
93 advanced eruption of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0006288
94 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
95 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
96 aplasia/hypoplasia of the radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0006501
97 gastroschisis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001543
98 mesomelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003027
99 bifid tongue 60 33 occasional (7.5%) Occasional (29-5%) HP:0010297
100 microglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000171
101 talipes calcaneovalgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001884
102 abnormal eyelash morphology 33 occasional (7.5%) HP:0000499
103 short stature 60 33 Very frequent (99-80%) HP:0004322
104 low-set ears 33 HP:0000369
105 hydrocephalus 33 HP:0000238
106 precocious puberty 33 HP:0000826
107 failure to thrive 33 HP:0001508
108 constipation 33 HP:0002019
109 sleep disturbance 60 Frequent (79-30%)
110 hearing impairment 33 HP:0000365
111 depressed nasal bridge 33 HP:0005280
112 vomiting 33 HP:0002013
113 malformation of the heart and great vessels 60 Frequent (79-30%)
114 micromelia 33 HP:0002983
115 broad alveolar ridges 33 HP:0000187
116 metatarsus adductus 33 HP:0001840
117 epiphyseal stippling 33 HP:0010655
118 growth delay 60 Very frequent (99-80%)
119 recurrent otitis media 33 HP:0000403
120 coarctation of aorta 33 HP:0001680
121 short toe 33 HP:0001831
122 cholestatic liver disease 33 HP:0002611
123 abnormality of the eyelashes 60 Occasional (29-5%)
124 hypoplasia of the frontal lobes 33 HP:0007333
125 aggressive behavior 33 HP:0000718
126 dental crowding 33 HP:0000678
127 severe photosensitivity 33 HP:0007537
128 renal hypoplasia 33 HP:0000089
129 intestinal malrotation 33 HP:0002566
130 eczema 33 HP:0000964
131 decreased fetal movement 33 HP:0001558
132 bifid scrotum 33 HP:0000048
133 dandy-walker malformation 33 HP:0001305
134 premature birth 33 HP:0001622
135 breech presentation 33 HP:0001623
136 micropenis 33 HP:0000054
137 generalized hypotonia 33 HP:0001290
138 hypoplasia of the corpus callosum 33 HP:0002079
139 scrotal hypoplasia 33 HP:0000046
140 hyperactivity 33 HP:0000752
141 hammertoe 33 HP:0001765
142 unilateral renal agenesis 33 HP:0000122
143 clitoromegaly 60 Frequent (79-30%)
144 renal agenesis 33 HP:0000104
145 poor suck 33 HP:0002033
146 renal cyst 33 HP:0000107
147 bicornuate uterus 33 HP:0000813
148 posteriorly rotated ears 33 HP:0000358
149 hypocholesterolemia 33 HP:0003146
150 short thumb 33 HP:0009778
151 septate vagina 33 HP:0001153
152 self-mutilation 33 HP:0000742
153 sleep-wake cycle disturbance 33 HP:0006979
154 narrow forehead 33 HP:0000341
155 overlapping toe 33 HP:0001845
156 gastrointestinal dysmotility 33 HP:0002579
157 hip subluxation 33 HP:0030043
158 periventricular heterotopia 33 HP:0007165

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
epicanthal folds
cataracts

Neurologic Central Nervous System:
hydrocephalus
seizures
mental retardation
frontal lobe hypoplasia
hypotonia (early infancy)
more
Abdomen Gastrointestinal:
constipation
vomiting
pyloric stenosis
poor suck
malrotation

Head And Neck Nose:
anteverted nares
broad, flat nasal bridge

Head And Neck Mouth:
cleft palate
hypoplastic tongue
broad alveolar margins

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta

Skeletal Feet:
metatarsus adductus
talipes calcaneovalgus
postaxial polydactyly
short, broad toes
syndactyly of second and third toes
more
Skeletal Pelvis:
hip dislocation
hip subluxation

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
self injurious behavior

Skin Nails Hair Skin:
severe photosensitivity
eczema
facial capillary hemangioma

Genitourinary Ureters:
ureteropelvic junction obstruction

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
postaxial polydactyly
proximally placed thumbs
short thumbs

Skeletal Limbs:
limb shortening

Skeletal:
stippled epiphyses

Voice:
shrill screaming

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

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
micrognathia
bitemporal narrowing

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
bifid scrotum
micropenis
hypoplastic scrotum
more
Head And Neck Teeth:
dental crowding
large central front teeth

Prenatal Manifestations Movement:
decreased fetal movement

Genitourinary Kidneys:
hydronephrosis
renal agenesis
cystic kidneys
single kidney

Laboratory Abnormalities:
elevated 7-dehydrocholesterol
low cholesterol

Respiratory Lung:
hypoplastic lungs
incomplete lobulation of the lungs

Growth Weight:
birth weight <2500gm

Skin Nails Hair Hair:
blonde hair

Clinical features from OMIM:

270400

UMLS symptoms related to Smith-Lemli-Opitz Syndrome:


seizures, constipation, vomiting

GenomeRNAi Phenotypes related to Smith-Lemli-Opitz Syndrome according to GeneCards Suite gene sharing:

27 (showing 3, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.46 ABCA1 APOE HMGCR LDLR
2 Reduced mammosphere formation GR00396-S 9.02 DHCR7 FDFT1 HMGCR LDLR SHH
3 Increased LDL uptake GR00340-A-1 8.96 APOE LDLR

MGI Mouse Phenotypes related to Smith-Lemli-Opitz Syndrome:

47 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
2 behavior/neurological MP:0005386 10.02 APOE CYP11A1 DHCR7 FDFT1 KCNMA1 LDLR
3 cardiovascular system MP:0005385 10 ABCA1 APOE CYP11A1 DHCR7 KCNMA1 LDLR
4 mortality/aging MP:0010768 9.97 ABCA1 APOE CYP11A1 DHCR7 FDFT1 HMGCR
5 digestive/alimentary MP:0005381 9.91 ABCA1 APOE DHCR7 KCNMA1 LDLR SHH
6 liver/biliary system MP:0005370 9.91 ABCA1 APOE CYP11A1 DHCR7 HMGCR LDLR
7 muscle MP:0005369 9.8 ABCA1 APOE CYP11A1 DHCR7 KCNMA1 LDLR
8 nervous system MP:0003631 9.76 ABCA1 APOE CYP11A1 DHCR7 FDFT1 KCNMA1
9 renal/urinary system MP:0005367 9.35 ABCA1 APOE DHCR7 KCNMA1 SHH
10 reproductive system MP:0005389 9.1 ABCA1 APOE CYP11A1 FDFT1 KCNMA1 SHH

Drugs & Therapeutics for Smith-Lemli-Opitz Syndrome

Drugs for Smith-Lemli-Opitz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 14, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
4 Anticholesteremic Agents Phase 2,Not Applicable
5 Lipid Regulating Agents Phase 2,Not Applicable
6 Antimetabolites Phase 2,Not Applicable
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
8 Hypolipidemic Agents Phase 2,Not Applicable
9 Phytosterol Phase 1, Phase 2,Not Applicable
10 Antioxidants Phase 2
11 Anesthetics Phase 2
12 Protective Agents Phase 2
13 Cholic Acids Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2

Interventional clinical trials:

(showing 15, show less)
# Name Status NCT ID Phase Drugs
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
6 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
7 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
8 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
10 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
11 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
12 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
13 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
14 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Terminated NCT01356420 Not Applicable
15 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Smith-Lemli-Opitz Syndrome

Cochrane evidence based reviews: smith-lemli-opitz syndrome

Genetic Tests for Smith-Lemli-Opitz Syndrome

Genetic tests related to Smith-Lemli-Opitz Syndrome:

# Genetic test Affiliating Genes
1 Smith-Lemli-Opitz Syndrome 30 DHCR7

Anatomical Context for Smith-Lemli-Opitz Syndrome

MalaCards organs/tissues related to Smith-Lemli-Opitz Syndrome:

42
Kidney, Heart, Eye, Bone, Tongue, Brain, Cerebellum

Publications for Smith-Lemli-Opitz Syndrome

Articles related to Smith-Lemli-Opitz Syndrome:

(showing 485, show less)
# Title Authors Year
1
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. ( 30114413 )
2019
2
Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome. ( 30674241 )
2019
3
Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome. ( 30925529 )
2019
4
The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review. ( 31005410 )
2019
5
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
6
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
7
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. ( 30360379 )
2018
8
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
9
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
10
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
11
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. ( 29455191 )
2018
12
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. ( 29979914 )
2018
13
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. ( 30092813 )
2018
14
Sub-nanosecond single line-of-sight (SLOS) x-ray imagers (invited). ( 30399697 )
2018
15
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
16
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
17
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2017
18
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2017
19
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. ( 27526097 )
2017
20
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
21
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
22
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
23
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
24
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
25
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
26
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith-Lemli-Opitz syndrome. ( 28891864 )
2017
27
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
28
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
29
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. ( 26998835 )
2016
30
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
31
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
32
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
33
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
34
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
35
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
36
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. ( 24813812 )
2015
37
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. ( 24824134 )
2015
38
Brothers with Smith-Lemli-Opitz syndrome. ( 24954735 )
2015
39
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
40
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
41
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. ( 26347274 )
2015
42
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. ( 26492708 )
2015
43
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ( 24142275 )
2014
44
Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome. ( 23896203 )
2014
45
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
46
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
47
Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors. ( 25024934 )
2014
48
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014
49
Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis. ( 25117108 )
2014
50
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
51
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique? ( 25191210 )
2014
52
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome. ( 25405082 )
2014
53
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome. ( 23790112 )
2014
54
Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome. ( 23828810 )
2013
55
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. ( 23859856 )
2013
56
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. ( 23918729 )
2013
57
An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. ( 23920082 )
2013
58
Ion-current-based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome. ( 23979708 )
2013
59
Smith-Lemli-Opitz syndrome - clinical consequences for dental care. ( 24296449 )
2013
60
Antioxidants: The Missing Key to Improved Therapeutic Intervention in Smith-Lemli-Opitz Syndrome? ( 24533230 )
2013
61
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome. ( 22718275 )
2013
62
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. ( 22929031 )
2013
63
Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies. ( 23022980 )
2013
64
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. ( 23072947 )
2013
65
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome. ( 23319240 )
2013
66
Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. ( 23321614 )
2013
67
Hepatic isoprenoid metabolism in a rat model of Smith-Lemli-Opitz Syndrome. ( 23361583 )
2013
68
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype. ( 23422574 )
2013
69
Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome. ( 23500538 )
2013
70
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. ( 23538569 )
2013
71
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. ( 23541496 )
2013
72
Abnormal motor behavior at 23 weeks in a fetus with Smith-Lemli-Opitz syndrome (SLOS). ( 23595802 )
2013
73
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. ( 23628460 )
2013
74
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome. ( 23688395 )
2013
75
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013
76
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. ( 23426833 )
2012
77
7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. ( 22425966 )
2012
78
Smith-Lemli-Opitz syndrome among Arabs. ( 21696385 )
2012
79
Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene. ( 22120730 )
2012
80
DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model. ( 22182693 )
2012
81
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. ( 22211794 )
2012
82
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. ( 22226660 )
2012
83
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. ( 22391996 )
2012
84
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. ( 22438180 )
2012
85
Growth charts for individuals with Smith-Lemli-Opitz syndrome. ( 22615010 )
2012
86
A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome. ( 22985726 )
2012
87
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. ( 23042573 )
2012
88
Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. ( 23042585 )
2012
89
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. ( 23042602 )
2012
90
Mutational spectrum of Smith-Lemli-Opitz syndrome. ( 23042628 )
2012
91
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. ( 23042642 )
2012
92
The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote. ( 23059855 )
2012
93
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. ( 23059950 )
2012
94
Smith-Lemli-Opitz-syndrome. ( 23162303 )
2012
95
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. ( 23293579 )
2012
96
An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome. ( 21402677 )
2011
97
Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 21595006 )
2011
98
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. ( 21626671 )
2011
99
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. ( 21724437 )
2011
100
Smith-Lemli-Opitz syndrome. ( 21777499 )
2011
101
Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome. ( 21817059 )
2011
102
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience. ( 21864209 )
2011
103
Adrenal function in Smith-Lemli-Opitz syndrome. ( 21990131 )
2011
104
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. ( 20052364 )
2010
105
Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency. ( 20238050 )
2010
106
A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. ( 19365639 )
2010
107
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 20014133 )
2010
108
Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. ( 20067919 )
2010
109
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. ( 20104611 )
2010
110
Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome. ( 20147702 )
2010
111
Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. ( 20349543 )
2010
112
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). ( 20440536 )
2010
113
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? ( 20556518 )
2010
114
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. ( 20635399 )
2010
115
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. ( 20670678 )
2010
116
Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome. ( 20702862 )
2010
117
Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 20804844 )
2010
118
Idiopathic persistent pulmonary hypertension in an infant with Smith-Lemli-Opitz syndrome. ( 21043560 )
2010
119
Smith-Lemli-Opitz syndrome: autopsy with new morphological findings. ( 21284323 )
2010
120
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. ( 19101685 )
2009
121
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. ( 19390132 )
2009
122
Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. ( 19406241 )
2009
123
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. ( 19430384 )
2009
124
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. ( 19452638 )
2009
125
What's Your Diagnosis? - Smith-Lemli-Opitz syndrome. ( 19928734 )
2009
126
[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. ( 19856245 )
2009
127
[Prenatal diagnosis of Smith-Lemli-Opitz syndrome--case report]. ( 19943544 )
2009
128
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. ( 18776762 )
2008
129
Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. ( 17378665 )
2008
130
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. ( 17965227 )
2008
131
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. ( 18076100 )
2008
132
Lipidomic analysis of the retina in a rat model of Smith-Lemli-Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species. ( 18182048 )
2008
133
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. ( 18249054 )
2008
134
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. ( 18285838 )
2008
135
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome. ( 18344409 )
2008
136
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. ( 18346920 )
2008
137
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. ( 18381059 )
2008
138
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome. ( 18442819 )
2008
139
Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 18556335 )
2008
140
Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome. ( 18775956 )
2008
141
Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. ( 18776754 )
2008
142
Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors. ( 19096116 )
2008
143
Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. ( 19886368 )
2008
144
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. ( 17341417 )
2007
145
Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. ( 17197219 )
2007
146
Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). ( 17286308 )
2007
147
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome. ( 17314682 )
2007
148
Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. ( 17347909 )
2007
149
Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome. ( 17365127 )
2007
150
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. ( 17441222 )
2007
151
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 17497248 )
2007
152
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). ( 17702049 )
2007
153
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). ( 17714750 )
2007
154
Smith-Lemli-Opitz syndrome and autism spectrum disorder. ( 17974928 )
2007
155
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. ( 17994283 )
2007
156
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. ( 18006960 )
2007
157
Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. ( 18188427 )
2007
158
Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. ( 17493586 )
2007
159
Differential effects of cholesterol and 7-dehydrocholesterol on ligand binding of solubilized hippocampal serotonin1A receptors: implications in SLOS. ( 17904101 )
2007
160
[The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. ( 17650909 )
2007
161
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. ( 16199034 )
2006
162
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. ( 16360150 )
2006
163
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness. ( 16618793 )
2006
164
Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome. ( 16678134 )
2006
165
Phototesting in patients with Smith-Lemli-Opitz syndrome confirms sensitivity to UV-A. ( 16702508 )
2006
166
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. ( 16761297 )
2006
167
Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. ( 16814115 )
2006
168
A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis. ( 16831310 )
2006
169
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. ( 16832833 )
2006
170
School in photodermatology: Smith-Lemli-Opitz syndrome. ( 16869869 )
2006
171
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? ( 16906538 )
2006
172
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. ( 16983147 )
2006
173
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. ( 16258167 )
2006
174
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. ( 16446309 )
2006
175
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. ( 16451140 )
2006
176
Ultraviolet A induces apoptosis via reactive oxygen species in a model for Smith-Lemli-Opitz syndrome. ( 16458195 )
2006
177
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. ( 16490099 )
2006
178
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. ( 16497572 )
2006
179
Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. ( 16435228 )
2005
180
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. ( 15670717 )
2005
181
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. ( 15702407 )
2005
182
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. ( 15774833 )
2005
183
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. ( 15776424 )
2005
184
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. ( 15805162 )
2005
185
Surgical implications of the Smith-Lemli-Opitz syndrome. ( 15834578 )
2005
186
Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. ( 15877207 )
2005
187
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. ( 15896653 )
2005
188
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. ( 15952211 )
2005
189
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). ( 15954111 )
2005
190
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? ( 15965973 )
2005
191
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. ( 15979035 )
2005
192
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. ( 16044199 )
2005
193
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. ( 16097001 )
2005
194
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. ( 16181459 )
2005
195
Recent insights into the Smith-Lemli-Opitz syndrome. ( 16207203 )
2005
196
Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. ( 16280635 )
2005
197
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. ( 16392899 )
2005
198
[Smith-Lemli-Opitz syndrome]. ( 16327658 )
2005
199
Edematous polydactyly in Smith-Lemli-Opitz syndrome Type II. ( 15170811 )
2004
200
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. ( 15302661 )
2004
201
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. ( 14594996 )
2004
202
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. ( 14605787 )
2004
203
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. ( 14715377 )
2004
204
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 14981719 )
2004
205
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. ( 15005800 )
2004
206
Smith-Lemli-Opitz syndrome. ( 15181308 )
2004
207
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. ( 15192627 )
2004
208
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. ( 15286151 )
2004
209
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report. ( 15316965 )
2004
210
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. ( 15319461 )
2004
211
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. ( 15464432 )
2004
212
Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. ( 15480380 )
2004
213
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. ( 15514417 )
2004
214
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. ( 15521979 )
2004
215
Use of the LMA classic to secure the airway of a premature neonate with Smith-Lemli-Opitz syndrome: a case report. ( 15633366 )
2004
216
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. ( 12797454 )
2003
217
Chemical synthesis of 7- and 8-dehydro derivatives of pregnane-3,17alpha,20-triols, potential steroid metabolites in Smith-Lemli-Opitz syndrome. ( 12475721 )
2003
218
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 12476463 )
2003
219
Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome. ( 12714790 )
2003
220
Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. ( 12717589 )
2003
221
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. ( 12833423 )
2003
222
Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. ( 12850625 )
2003
223
Smith-Lemli-Opitz syndrome: a review, case report and dental implications. ( 12887150 )
2003
224
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. ( 12906934 )
2003
225
Smith-Lemli-Opitz syndrome and the DHCR7 gene. ( 12914579 )
2003
226
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. ( 12949967 )
2003
227
Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry. ( 14502364 )
2003
228
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. ( 14556255 )
2003
229
Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. ( 14604256 )
2003
230
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. ( 14659996 )
2003
231
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. ( 14662594 )
2003
232
[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. ( 12818773 )
2003
233
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. ( 12794707 )
2003
234
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. ( 11857552 )
2002
235
Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions. ( 11942534 )
2002
236
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. ( 11943798 )
2002
237
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. ( 12047895 )
2002
238
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. ( 12051964 )
2002
239
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. ( 12070263 )
2002
240
The challenge of providing continuity in the care of a disabled child: Smith-Lemli-Opitz syndrome. ( 12217226 )
2002
241
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. ( 12224080 )
2002
242
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. ( 12270273 )
2002
243
Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndrome. ( 12357175 )
2002
244
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. ( 12364550 )
2002
245
Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-synthesis defect Smith-Lemli-Opitz syndrome. ( 12366604 )
2002
246
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). ( 12477489 )
2002
247
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. ( 11562938 )
2001
248
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. ( 11161831 )
2001
249
Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. ( 11167696 )
2001
250
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. ( 11175299 )
2001
251
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. ( 11223857 )
2001
252
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. ( 11230174 )
2001
253
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. ( 11254748 )
2001
254
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11260610 )
2001
255
Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. ( 11266498 )
2001
256
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ( 11298379 )
2001
257
Smith-Lemli-Opitz syndrome. ( 11349693 )
2001
258
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. ( 11427181 )
2001
259
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. ( 11453964 )
2001
260
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. ( 11471166 )
2001
261
Synthesis of ring B unsaturated estriols. Confirming the structure of a diagnostic analyte for Smith-Lemli-Opitz syndrome. ( 11483057 )
2001
262
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. ( 11503168 )
2001
263
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 11503169 )
2001
264
Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. ( 11505445 )
2001
265
Photomedicine: lessons from the Smith-Lemli-Opitz syndrome. ( 11566274 )
2001
266
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. ( 11745994 )
2001
267
Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome. ( 11746018 )
2001
268
DHCR7 and Smith-Lemli-Opitz syndrome. ( 11767235 )
2001
269
Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. ( 10947201 )
2000
270
Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. ( 10951458 )
2000
271
Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. ( 10974051 )
2000
272
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. ( 10995508 )
2000
273
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. ( 11001806 )
2000
274
RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. ( 11001807 )
2000
275
Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol. ( 11032340 )
2000
276
Aberrant pathways in the late stages of cholesterol biosynthesis in the rat. Origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome. ( 11060346 )
2000
277
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. ( 11074502 )
2000
278
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. ( 11078571 )
2000
279
Smith-Lemli-Opitz syndrome: case report and literature review. ( 11101752 )
2000
280
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. ( 11111101 )
2000
281
Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. ( 11186897 )
2000
282
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. ( 10677299 )
2000
283
Incidence of Smith-Lemli-Opitz syndrome in Slovakia. ( 10678669 )
2000
284
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. ( 10694693 )
2000
285
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. ( 10710236 )
2000
286
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. ( 10719329 )
2000
287
Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model. ( 10744785 )
2000
288
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. ( 10748414 )
2000
289
The Smith-Lemli-Opitz syndrome. ( 10807690 )
2000
290
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. ( 10833186 )
2000
291
Anesthetic considerations in Smith-Lemli-Opitz syndrome. ( 10875719 )
2000
292
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. ( 10896306 )
2000
293
Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome. ( 10896307 )
2000
294
Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. ( 10899806 )
2000
295
Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. ( 10905895 )
2000
296
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. ( 10946022 )
2000
297
Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities. ( 11128747 )
2000
298
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. ( 10814720 )
2000
299
Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty. ( 10447131 )
1999
300
Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome. ( 10064734 )
1999
301
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. ( 10069707 )
1999
302
Adrenal insufficiency in Smith-Lemli-Opitz syndrome. ( 10069708 )
1999
303
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. ( 10073912 )
1999
304
Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. ( 10084612 )
1999
305
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. ( 10215064 )
1999
306
Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies. ( 10327249 )
1999
307
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. ( 10327280 )
1999
308
Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. ( 10329655 )
1999
309
Antenatal therapy of Smith-Lemli-Opitz syndrome. ( 10364662 )
1999
310
Biochemical variants of Smith-Lemli-Opitz syndrome. ( 10405455 )
1999
311
Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome. ( 10411425 )
1999
312
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver. ( 10428990 )
1999
313
RSH (so-called Smith-Lemli-Opitz) syndrome. ( 10439210 )
1999
314
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. ( 10439827 )
1999
315
Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. ( 10443904 )
1999
316
Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. ( 10564872 )
1999
317
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. ( 10583043 )
1999
318
Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. ( 10591424 )
1999
319
Photosensitivity in the Smith-Lemli-Opitz syndrome. ( 10599969 )
1999
320
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. ( 10602371 )
1999
321
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome. ( 10627944 )
1999
322
Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome. ( 10631931 )
1999
323
Smith-Lemli-Opitz syndrome in Japan. ( 9450870 )
1998
324
RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly. ( 9475598 )
1998
325
Abnormal cholesterol biosynthesis produced by AY 9944 in the rat leads to skeletal deformities similar to the Smith-Lemli-Opitz syndrome. ( 9523840 )
1998
326
Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. ( 9523845 )
1998
327
7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. ( 9548596 )
1998
328
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 9602484 )
1998
329
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. ( 9634533 )
1998
330
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. ( 9653161 )
1998
331
Photosensitivity associated with the Smith-Lemli-Opitz syndrome. ( 9666840 )
1998
332
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. ( 9678700 )
1998
333
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. ( 9683613 )
1998
334
RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. ( 9683618 )
1998
335
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. ( 9706645 )
1998
336
Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. ( 9714006 )
1998
337
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. ( 9714007 )
1998
338
Cholesterol supplementation in Smith-Lemli-Opitz syndrome. ( 9714443 )
1998
339
Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts. ( 9819706 )
1998
340
Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. ( 9856557 )
1998
341
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. ( 9880216 )
1998
342
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. ( 8990234 )
1997
343
Phenotypic diversity in the Smith-Lemli-Opitz syndrome. ( 9018421 )
1997
344
Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. ( 9024555 )
1997
345
Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome. ( 9024556 )
1997
346
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. ( 9024557 )
1997
347
Cardiovascular malformations in Smith-Lemli-Opitz syndrome. ( 9024558 )
1997
348
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. ( 9024560 )
1997
349
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry. ( 9024561 )
1997
350
Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. ( 9024563 )
1997
351
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) ( 9024564 )
1997
352
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. ( 9024565 )
1997
353
Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterol. ( 9024567 )
1997
354
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. ( 9024568 )
1997
355
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. ( 9061771 )
1997
356
MRI in Smith-Lemli-Opitz syndrome type I. ( 9083702 )
1997
357
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. ( 9090293 )
1997
358
New treatment strategy for Smith-Lemli-Opitz syndrome. ( 9130950 )
1997
359
First-trimester diagnosis of Smith-Lemli-Opitz syndrome. ( 9160388 )
1997
360
Smith-Lemli-Opitz syndrome: further delineation of the phenotype. ( 9220198 )
1997
361
Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. ( 9225842 )
1997
362
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection. ( 9266374 )
1997
363
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. ( 9266395 )
1997
364
MRI in Smith-Lemli-Opitz syndrome type 1. ( 9403196 )
1997
365
Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). ( 9024559 )
1997
366
Sex reversal in an infant with Smith-Lemli-Opitz syndrome, type II: evidence for 5-alpha reductase deficiency. ( 8887136 )
1996
367
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? ( 8989473 )
1996
368
Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 8659752 )
1996
369
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). ( 8726234 )
1996
370
Smith-Lemli-Opitz syndrome: treatment with cholesterol and bile acids. ( 8737829 )
1996
371
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8808751 )
1996
372
Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. ( 8808767 )
1996
373
Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. ( 8830178 )
1996
374
Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome. ( 8831138 )
1996
375
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. ( 8863875 )
1996
376
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome. ( 8884563 )
1996
377
Cholesta-5,7,9(11)-trien-3 beta-ol found in plasma of patients with Smith-Lemli-Opitz syndrome indicates formation of sterol hydroperoxide. ( 8978479 )
1996
378
Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome. ( 8978494 )
1996
379
Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. ( 8987154 )
1996
380
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome. ( 10829981 )
1996
381
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]. ( 8766772 )
1996
382
Anesthesia-induced rigidity, unrelated to succinylcholine, associated with Smith-Lemli-Opitz syndrome and malignant hyperthermia. ( 7864433 )
1995
383
Treatment of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome reproduced in rats by BM 15.766. ( 7557099 )
1995
384
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. ( 7608816 )
1995
385
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. ( 8533850 )
1995
386
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. ( 8559757 )
1995
387
Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. ( 8656079 )
1995
388
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. ( 8776024 )
1995
389
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. ( 8919321 )
1995
390
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. ( 7595082 )
1995
391
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. ( 7603789 )
1995
392
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. ( 7616117 )
1995
393
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. ( 7664465 )
1995
394
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. ( 7706951 )
1995
395
Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry. ( 7720244 )
1995
396
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. ( 7762564 )
1995
397
Unusual case of Smith-Lemli-Opitz syndrome "type II". ( 7778586 )
1995
398
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778587 )
1995
399
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. ( 7778588 )
1995
400
Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. ( 7778589 )
1995
401
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. ( 7778590 )
1995
402
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. ( 7778591 )
1995
403
Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. ( 7814648 )
1995
404
Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome. ( 8527820 )
1995
405
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. ( 7632194 )
1994
406
Craniofacial manifestations of Smith-Lemli-Opitz syndrome: case report. ( 7699276 )
1994
407
Picture of the month. Smith-Lemli-Opitz syndrome. ( 7921121 )
1994
408
Transvaginal ultrasonography and transabdominal embryoscopy in the first-trimester diagnosis of Smith-Lemli-Opitz syndrome, type II. ( 8059839 )
1994
409
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II. ( 8116676 )
1994
410
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177281 )
1994
411
Diagnosis of Smith-Lemli-Opitz syndrome. ( 8177282 )
1994
412
RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations. ( 8209912 )
1994
413
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. ( 8209913 )
1994
414
RSH/SLO (Smith-Lemli-Opitz) syndrome: designing a high cholesterol diet for the SLO syndrome. ( 8209916 )
1994
415
Abnormal bile acids in the Smith-Lemli-Opitz syndrome. ( 8209917 )
1994
416
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. ( 8209918 )
1994
417
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. ( 8209919 )
1994
418
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. ( 8259166 )
1994
419
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. ( 7684480 )
1993
420
Smith-Lemli-Opitz syndrome. ( 8244478 )
1993
421
Cholesterol defect in Smith-Lemli-Opitz syndrome. ( 8256825 )
1993
422
Gonadal function in Smith-Lemli-Opitz syndrome. ( 8418647 )
1993
423
Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings. ( 8469589 )
1993
424
Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. ( 1354158 )
1992
425
Smith-Lemli-Opitz syndrome in siblings. ( 1389317 )
1992
426
Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. ( 1392379 )
1992
427
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. ( 1605242 )
1992
428
Smith-Lemli-Opitz syndrome: the changing phenotype with age. ( 1642814 )
1992
429
Smith-Lemli-Opitz syndrome in female, monozygotic twins. ( 1773539 )
1991
430
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome. ( 1849804 )
1991
431
A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. ( 2038028 )
1991
432
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. ( 2309789 )
1990
433
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? ( 2395167 )
1990
434
Malignant mixed germ cell tumor of the ovary in a young woman with Smith-Lemli-Opitz syndrome. ( 2542142 )
1989
435
Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). ( 2596525 )
1989
436
Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. ( 2729358 )
1989
437
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. ( 2831368 )
1988
438
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. ( 3812577 )
1987
439
Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome. ( 3322011 )
1987
440
Nosology of Smith-Lemli-Opitz syndrome. ( 3322012 )
1987
441
The nosology of the Smith-Lemli-Opitz Syndrome. ( 3425637 )
1987
442
Smith-Lemli-Opitz syndrome. ( 3425638 )
1987
443
Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. ( 3560332 )
1987
444
Computed tomography of the brain in the Smith-Lemli-Opitz syndrome. ( 3611634 )
1987
445
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. ( 3612721 )
1987
446
Two cases of severe lethal Smith-Lemli-Opitz syndrome. ( 3812579 )
1987
447
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. ( 3712395 )
1986
448
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. ( 3018967 )
1985
449
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. ( 3934624 )
1985
450
Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. ( 3998935 )
1985
451
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. ( 6437074 )
1984
452
Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. ( 6713715 )
1984
453
Smith-Lemli-Opitz syndrome and Hirschsprung disease. ( 6737144 )
1984
454
Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. ( 6858679 )
1983
455
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. ( 6859094 )
1983
456
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. ( 6886911 )
1983
457
Ocular manifestations of the Smith-Lemli-Opitz syndrome. ( 7295150 )
1981
458
Postlenticular membrane associated with Smith-Lemli-Opitz syndrome. ( 443339 )
1979
459
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. ( 862305 )
1977
460
Sclerocornea associated with the Smith-Lemli-Opitz syndrome. ( 900220 )
1977
461
The Smith-Lemli-Opitz syndrome in a five months old child. ( 614986 )
1977
462
Smith-Lemli-Opitz syndrome: neuropathological and ophthalmological observations. ( 844667 )
1977
463
Smith-Lemli-Opitz syndrome: review and report of two affected siblings. ( 166525 )
1975
464
Smith-Lemli-Opitz syndrome: two further cases. ( 1110157 )
1975
465
The pathological anatomy of the Smith-Lemli-Opitz syndrome. ( 1149307 )
1975
466
Three sisters with the Smith-Lemli-Opitz syndrome. ( 4213791 )
1974
467
Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings. ( 4147088 )
1973
468
Smith-Lemli-Opitz syndrome in an adult. ( 4153066 )
1972
469
Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. ( 4664661 )
1972
470
Smith-Lemli-Opitz syndrome in an inbred family. ( 5056882 )
1972
471
Cataracts in the Smith-Lemli-Opitz syndrome. ( 4330375 )
1971
472
The Smith-Lemli-Opitz syndrome. ( 5096180 )
1971
473
The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy. ( 5098076 )
1971
474
Smith-Lemli-Opitz syndrome with cardiovascular abnormality. ( 5573870 )
1971
475
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. ( 4389828 )
1969
476
Smith-Lemli-Opitz syndrome. ( 5349196 )
1969
477
The Smith-Lemli-Opitz syndrome in an adult male. ( 5363344 )
1969
478
Smith-Lemli-Opitz syndrome in a negro child. ( 5762893 )
1969
479
Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome. ( 5809847 )
1969
480
Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome. ( 4386913 )
1968
481
Smith-Lemli-Opitz syndrome. Case report. ( 5303264 )
1968
482
Smith-Lemli-Opitz syndrome. Radiologic and postmortem findings. ( 5642353 )
1968
483
Picture of the month. Smith-Lemli-Opitz syndrome. ( 5689489 )
1968
484
Smith-Lemli-Opitz syndrome. ( 5708286 )
1968
485
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA. ( 14303408 )
1965

Variations for Smith-Lemli-Opitz Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Smith-Lemli-Opitz Syndrome:

76 (showing 53, show less)
# Symbol AA change Variation ID SNP ID
1 DHCR7 p.Pro51Ser VAR_012717 rs104886035
2 DHCR7 p.Thr93Met VAR_012718 rs80338853
3 DHCR7 p.Leu99Pro VAR_012719 rs104886041
4 DHCR7 p.His119Leu VAR_012720 rs28938174
5 DHCR7 p.Leu157Pro VAR_012721 rs753960624
6 DHCR7 p.Gly244Arg VAR_012722 rs121909764
7 DHCR7 p.Ala247Val VAR_012723 rs886041354
8 DHCR7 p.Trp248Cys VAR_012724 rs104894212
9 DHCR7 p.Thr289Ile VAR_012725 rs121909765
10 DHCR7 p.Val326Leu VAR_012726 rs80338859
11 DHCR7 p.Arg352Trp VAR_012727 rs80338860
12 DHCR7 p.Cys380Ser VAR_012728
13 DHCR7 p.Arg404Cys VAR_012729 rs61757582
14 DHCR7 p.Gly410Ser VAR_012730 rs80338862
15 DHCR7 p.Glu448Lys VAR_016975 rs80338864
16 DHCR7 p.Leu68Pro VAR_023148 rs104886038
17 DHCR7 p.Gln107His VAR_023149 rs104886040
18 DHCR7 p.Leu109Pro VAR_023150 rs121912195
19 DHCR7 p.Ser113Cys VAR_023151
20 DHCR7 p.Gly138Val VAR_023152
21 DHCR7 p.Ile145Leu VAR_023153
22 DHCR7 p.Gly147Asp VAR_023154 rs777425801
23 DHCR7 p.Thr154Met VAR_023155 rs143312232
24 DHCR7 p.Ser169Leu VAR_023156 rs80338855
25 DHCR7 p.Trp182Cys VAR_023157
26 DHCR7 p.Trp182Leu VAR_023158 rs536394774
27 DHCR7 p.Cys183Tyr VAR_023159
28 DHCR7 p.Lys198Glu VAR_023160
29 DHCR7 p.Phe235Ser VAR_023161
30 DHCR7 p.Arg242Cys VAR_023162 rs80338856
31 DHCR7 p.Arg242His VAR_023163 rs80338857
32 DHCR7 p.Phe255Leu VAR_023164
33 DHCR7 p.Val281Met VAR_023165 rs398123607
34 DHCR7 p.Ile297Thr VAR_023166
35 DHCR7 p.Cys311Gly VAR_023167
36 DHCR7 p.Cys311Tyr VAR_023168
37 DHCR7 p.Tyr324His VAR_023169 rs117370732
38 DHCR7 p.Gly344Arg VAR_023170
39 DHCR7 p.Arg352Gln VAR_023171 rs121909768
40 DHCR7 p.Val353Ala VAR_023172
41 DHCR7 p.Arg362Cys VAR_023173 rs371302153
42 DHCR7 p.Cys380Arg VAR_023174 rs373306653
43 DHCR7 p.Cys380Tyr VAR_023175 rs779709646
44 DHCR7 p.Ser397Leu VAR_023176 rs773134475
45 DHCR7 p.Arg404Ser VAR_023177 rs61757582
46 DHCR7 p.His405Tyr VAR_023178
47 DHCR7 p.Tyr408His VAR_023179 rs104656076
48 DHCR7 p.Gly410Arg VAR_023180 rs80338862
49 DHCR7 p.His426Pro VAR_023181 rs135471863
50 DHCR7 p.Arg443Cys VAR_023182 rs535561852
51 DHCR7 p.Arg446Gln VAR_023183 rs751604696
52 DHCR7 p.Glu448Gln VAR_023184 rs80338864
53 DHCR7 p.Arg450Leu VAR_023185 rs542266962

ClinVar genetic disease variations for Smith-Lemli-Opitz Syndrome:

6 (showing 379, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh37 Chromosome 11, 71148990: 71148990
2 DHCR7 NM_001360.2(DHCR7): c.832-1G> C single nucleotide variant Pathogenic rs80338863 GRCh38 Chromosome 11, 71437944: 71437944
3 DHCR7 DHCR7, 96-BP DEL deletion Pathogenic
4 DHCR7 DHCR7, 1-BP INS, 505C insertion Pathogenic
5 DHCR7 DHCR7, 1-BP INS, 586T insertion Pathogenic
6 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh37 Chromosome 11, 71153365: 71153365
7 DHCR7 NM_001360.2(DHCR7): c.356A> T (p.His119Leu) single nucleotide variant Pathogenic rs28938174 GRCh38 Chromosome 11, 71442319: 71442319
8 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh37 Chromosome 11, 71150026: 71150026
9 DHCR7 NM_001360.2(DHCR7): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs121909764 GRCh38 Chromosome 11, 71438980: 71438980
10 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh37 Chromosome 11, 71150012: 71150012
11 DHCR7 NM_001360.2(DHCR7): c.744G> T (p.Trp248Cys) single nucleotide variant Pathogenic rs104894212 GRCh38 Chromosome 11, 71438966: 71438966
12 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh37 Chromosome 11, 71155082: 71155082
13 DHCR7 NM_001360.2(DHCR7): c.278C> T (p.Thr93Met) single nucleotide variant Pathogenic/Likely pathogenic rs80338853 GRCh38 Chromosome 11, 71444036: 71444036
14 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh37 Chromosome 11, 71152446: 71152446
15 DHCR7 NM_001360.2(DHCR7): c.453G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs104894213 GRCh38 Chromosome 11, 71441400: 71441400
16 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh37 Chromosome 11, 71146873: 71146873
17 DHCR7 NM_001360.2(DHCR7): c.976G> T (p.Val326Leu) single nucleotide variant Pathogenic rs80338859 GRCh38 Chromosome 11, 71435827: 71435827
18 DHCR7 DHCR7, TRP37TER single nucleotide variant Pathogenic
19 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh37 Chromosome 11, 71146795: 71146795
20 DHCR7 NM_001360.2(DHCR7): c.1054C> T (p.Arg352Trp) single nucleotide variant Pathogenic rs80338860 GRCh38 Chromosome 11, 71435749: 71435749
21 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
22 DHCR7 NM_001360.2(DHCR7): c.1210C> T (p.Arg404Cys) single nucleotide variant Pathogenic rs61757582 GRCh38 Chromosome 11, 71435593: 71435593
23 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh37 Chromosome 11, 71148955: 71148955
24 DHCR7 NM_001360.2(DHCR7): c.866C> T (p.Thr289Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121909765 GRCh38 Chromosome 11, 71437909: 71437909
25 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh37 Chromosome 11, 71148982: 71148982
26 DHCR7 NM_001360.2(DHCR7): c.839A> G (p.Tyr280Cys) single nucleotide variant Pathogenic rs121909766 GRCh38 Chromosome 11, 71437936: 71437936
27 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs121909767 GRCh37 Chromosome 11, 71155996: 71155996
28 DHCR7 NM_001360.2(DHCR7): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs121909767 GRCh38 Chromosome 11, 71444950: 71444950
29 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh37 Chromosome 11, 71146507: 71146507
30 DHCR7 NM_001360.2(DHCR7): c.1342G> A (p.Glu448Lys) single nucleotide variant Pathogenic/Likely pathogenic rs80338864 GRCh38 Chromosome 11, 71435461: 71435461
31 DHCR7 DHCR7, PHE284LEU undetermined variant Pathogenic
32 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh37 Chromosome 11, 71155998: 71155998
33 DHCR7 NM_001360.2(DHCR7): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs104886033 GRCh38 Chromosome 11, 71444952: 71444952
34 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh37 Chromosome 11, 71146794: 71146794
35 DHCR7 NM_001360.2(DHCR7): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic rs121909768 GRCh38 Chromosome 11, 71435748: 71435748
36 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh37 Chromosome 11, 71146621: 71146621
37 DHCR7 NM_001360.2(DHCR7): c.1228G> A (p.Gly410Ser) single nucleotide variant Pathogenic rs80338862 GRCh38 Chromosome 11, 71435575: 71435575
38 DHCR7 NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs11555217 GRCh37 Chromosome 11, 71152447: 71152447
39 DHCR7 NM_001360.2(DHCR7): c.452G> A (p.Trp151Ter) single nucleotide variant Pathogenic rs11555217 GRCh38 Chromosome 11, 71441401: 71441401
40 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338855 GRCh37 Chromosome 11, 71152393: 71152393
41 DHCR7 NM_001360.2(DHCR7): c.506C> T (p.Ser169Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338855 GRCh38 Chromosome 11, 71441347: 71441347
42 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh37 Chromosome 11, 71150032: 71150032
43 DHCR7 NM_001360.2(DHCR7): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338856 GRCh38 Chromosome 11, 71438986: 71438986
44 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh37 Chromosome 11, 71150031: 71150031
45 DHCR7 NM_001360.2(DHCR7): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic/Likely pathogenic rs80338857 GRCh38 Chromosome 11, 71438985: 71438985
46 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh37 Chromosome 11, 71148915: 71148915
47 DHCR7 NM_001360.2(DHCR7): c.906C> G (p.Phe302Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80338858 GRCh38 Chromosome 11, 71437869: 71437869
48 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh38 Chromosome 11, 71442260: 71442260
49 DHCR7 NM_001360.2(DHCR7): c.322_412del single nucleotide variant Pathogenic rs786200926 GRCh37 Chromosome 11, 71153306: 71153306
50 DHCR7 NM_001360.2(DHCR7): c.1012G> A (p.Val338Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72954276 GRCh37 Chromosome 11, 71146837: 71146837
51 DHCR7 NM_001360.2(DHCR7): c.1012G> A (p.Val338Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72954276 GRCh38 Chromosome 11, 71435791: 71435791
52 DHCR7 NM_001360.2(DHCR7): c.1158T> C (p.Asp386=) single nucleotide variant Benign rs760241 GRCh37 Chromosome 11, 71146691: 71146691
53 DHCR7 NM_001360.2(DHCR7): c.1158T> C (p.Asp386=) single nucleotide variant Benign rs760241 GRCh38 Chromosome 11, 71435645: 71435645
54 DHCR7 NM_001360.2(DHCR7): c.1272C> T (p.Gly424=) single nucleotide variant Benign/Likely benign rs909217 GRCh37 Chromosome 11, 71146577: 71146577
55 DHCR7 NM_001360.2(DHCR7): c.1272C> T (p.Gly424=) single nucleotide variant Benign/Likely benign rs909217 GRCh38 Chromosome 11, 71435531: 71435531
56 DHCR7 NM_001360.2(DHCR7): c.1341C> T (p.Asp447=) single nucleotide variant Conflicting interpretations of pathogenicity rs139721775 GRCh37 Chromosome 11, 71146508: 71146508
57 DHCR7 NM_001360.2(DHCR7): c.1341C> T (p.Asp447=) single nucleotide variant Conflicting interpretations of pathogenicity rs139721775 GRCh38 Chromosome 11, 71435462: 71435462
58 DHCR7 NM_001360.2(DHCR7): c.1368C> T (p.Gly456=) single nucleotide variant Conflicting interpretations of pathogenicity rs144562471 GRCh37 Chromosome 11, 71146481: 71146481
59 DHCR7 NM_001360.2(DHCR7): c.1368C> T (p.Gly456=) single nucleotide variant Conflicting interpretations of pathogenicity rs144562471 GRCh38 Chromosome 11, 71435435: 71435435
60 DHCR7 NM_001360.2(DHCR7): c.1384T> C (p.Tyr462His) single nucleotide variant Conflicting interpretations of pathogenicity rs201270451 GRCh37 Chromosome 11, 71146465: 71146465
61 DHCR7 NM_001360.2(DHCR7): c.1384T> C (p.Tyr462His) single nucleotide variant Conflicting interpretations of pathogenicity rs201270451 GRCh38 Chromosome 11, 71435419: 71435419
62 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh37 Chromosome 11, 71155209: 71155209
63 DHCR7 NM_001360.2(DHCR7): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs104886035 GRCh38 Chromosome 11, 71444163: 71444163
64 DHCR7 NM_001360.2(DHCR7): c.189G> A (p.Gln63=) single nucleotide variant Benign/Likely benign rs1044482 GRCh37 Chromosome 11, 71155171: 71155171
65 DHCR7 NM_001360.2(DHCR7): c.189G> A (p.Gln63=) single nucleotide variant Benign/Likely benign rs1044482 GRCh38 Chromosome 11, 71444125: 71444125
66 DHCR7 NM_001360.2(DHCR7): c.199G> A (p.Ala67Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143999854 GRCh37 Chromosome 11, 71155161: 71155161
67 DHCR7 NM_001360.2(DHCR7): c.199G> A (p.Ala67Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143999854 GRCh38 Chromosome 11, 71444115: 71444115
68 DHCR7 NM_001360.2(DHCR7): c.207T> C (p.Thr69=) single nucleotide variant Benign rs1790334 GRCh37 Chromosome 11, 71155153: 71155153
69 DHCR7 NM_001360.2(DHCR7): c.207T> C (p.Thr69=) single nucleotide variant Benign rs1790334 GRCh38 Chromosome 11, 71444107: 71444107
70 DHCR7 NM_001360.2(DHCR7): c.231C> T (p.Thr77=) single nucleotide variant Benign/Likely benign rs4316537 GRCh37 Chromosome 11, 71155129: 71155129
71 DHCR7 NM_001360.2(DHCR7): c.231C> T (p.Thr77=) single nucleotide variant Benign/Likely benign rs4316537 GRCh38 Chromosome 11, 71444083: 71444083
72 DHCR7 NM_001360.2(DHCR7): c.321+10C> T single nucleotide variant Benign/Likely benign rs377108406 GRCh37 Chromosome 11, 71155029: 71155029
73 DHCR7 NM_001360.2(DHCR7): c.321+10C> T single nucleotide variant Benign/Likely benign rs377108406 GRCh38 Chromosome 11, 71443983: 71443983
74 DHCR7 NM_001360.2(DHCR7): c.400G> T (p.Val134Leu) single nucleotide variant Uncertain significance rs201466849 GRCh37 Chromosome 11, 71153321: 71153321
75 DHCR7 NM_001360.2(DHCR7): c.400G> T (p.Val134Leu) single nucleotide variant Uncertain significance rs201466849 GRCh38 Chromosome 11, 71442275: 71442275
76 DHCR7 NM_001360.2(DHCR7): c.438T> C (p.Asn146=) single nucleotide variant Benign rs949177 GRCh37 Chromosome 11, 71152461: 71152461
77 DHCR7 NM_001360.2(DHCR7): c.438T> C (p.Asn146=) single nucleotide variant Benign rs949177 GRCh38 Chromosome 11, 71441415: 71441415
78 DHCR7 NM_001360.2(DHCR7): c.626+15G> A single nucleotide variant Benign/Likely benign rs736894 GRCh37 Chromosome 11, 71152258: 71152258
79 DHCR7 NM_001360.2(DHCR7): c.626+15G> A single nucleotide variant Benign/Likely benign rs736894 GRCh38 Chromosome 11, 71441212: 71441212
80 DHCR7 NM_001360.2(DHCR7): c.70G> T (p.Ala24Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146867923 GRCh37 Chromosome 11, 71155929: 71155929
81 DHCR7 NM_001360.2(DHCR7): c.70G> T (p.Ala24Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146867923 GRCh38 Chromosome 11, 71444883: 71444883
82 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123607 GRCh37 Chromosome 11, 71148980: 71148980
83 DHCR7 NM_001360.2(DHCR7): c.841G> A (p.Val281Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123607 GRCh38 Chromosome 11, 71437934: 71437934
84 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
85 DHCR7 NM_001360.2(DHCR7): c.964-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
86 DHCR7 NM_001360.2(DHCR7): c.99-4G> A single nucleotide variant Benign/Likely benign rs140748737 GRCh37 Chromosome 11, 71155265: 71155265
87 DHCR7 NM_001360.2(DHCR7): c.99-4G> A single nucleotide variant Benign/Likely benign rs140748737 GRCh38 Chromosome 11, 71444219: 71444219
88 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
89 DHCR7 NM_001360.2(DHCR7): c.461C> G (p.Thr154Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
90 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh37 Chromosome 11, 71155234: 71155234
91 DHCR7 NM_001360.2(DHCR7): c.126C> T (p.Ser42=) single nucleotide variant Benign rs150928869 GRCh38 Chromosome 11, 71444188: 71444188
92 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh37 Chromosome 11, 71146757: 71146757
93 DHCR7 NM_001360.2(DHCR7): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs35946774 GRCh38 Chromosome 11, 71435711: 71435711
94 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh37 Chromosome 11, 71146841: 71146841
95 DHCR7 NM_001360.2(DHCR7): c.1008C> T (p.His336=) single nucleotide variant Conflicting interpretations of pathogenicity rs75225632 GRCh38 Chromosome 11, 71435795: 71435795
96 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
97 DHCR7 NM_001360.2(DHCR7): c.1426T> C (p.Ter476Gln) single nucleotide variant Likely pathogenic rs775034584 GRCh37 Chromosome 11, 71146423: 71146423
98 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh38 Chromosome 11, 71435664: 71435664
99 DHCR7 NM_001360.2(DHCR7): c.1139G> A (p.Cys380Tyr) single nucleotide variant Likely pathogenic rs779709646 GRCh37 Chromosome 11, 71146710: 71146710
100 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh38 Chromosome 11, 71441392: 71441392
101 DHCR7 NM_001360.2(DHCR7): c.461C> T (p.Thr154Met) single nucleotide variant Pathogenic/Likely pathogenic rs143312232 GRCh37 Chromosome 11, 71152438: 71152438
102 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh38 Chromosome 11, 71444022: 71444022
103 DHCR7 NM_001360.2(DHCR7): c.292C> T (p.Gln98Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886039 GRCh37 Chromosome 11, 71155068: 71155068
104 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh38 Chromosome 11, 71444203: 71444203
105 DHCR7 NM_001360.2(DHCR7): c.111G> A (p.Trp37Ter) single nucleotide variant Likely pathogenic rs750345068 GRCh37 Chromosome 11, 71155249: 71155249
106 DHCR7 NM_001360.2(DHCR7): c.223A> T (p.Ile75Phe) single nucleotide variant Uncertain significance rs370748173 GRCh37 Chromosome 11, 71155137: 71155137
107 DHCR7 NM_001360.2(DHCR7): c.223A> T (p.Ile75Phe) single nucleotide variant Uncertain significance rs370748173 GRCh38 Chromosome 11, 71444091: 71444091
108 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh37 Chromosome 11, 71153345: 71153345
109 DHCR7 NM_001360.2(DHCR7): c.376G> A (p.Val126Ile) single nucleotide variant Uncertain significance rs143587828 GRCh38 Chromosome 11, 71442299: 71442299
110 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh37 Chromosome 11, 71153322: 71153322
111 DHCR7 NM_001360.2(DHCR7): c.399C> T (p.Ala133=) single nucleotide variant Conflicting interpretations of pathogenicity rs147424205 GRCh38 Chromosome 11, 71442276: 71442276
112 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh37 Chromosome 11, 71148914: 71148914
113 DHCR7 NM_001360.2(DHCR7): c.907G> A (p.Gly303Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142808899 GRCh38 Chromosome 11, 71437868: 71437868
114 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh37 Chromosome 11, 71146453: 71146453
115 DHCR7 NM_001360.2(DHCR7): c.1396G> A (p.Val466Met) single nucleotide variant Pathogenic/Likely pathogenic rs760428437 GRCh38 Chromosome 11, 71435407: 71435407
116 DHCR7 NM_001360.2(DHCR7): c.740C> T (p.Ala247Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041354 GRCh38 Chromosome 11, 71438970: 71438970
117 DHCR7 NM_001360.2(DHCR7): c.740C> T (p.Ala247Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041354 GRCh37 Chromosome 11, 71150016: 71150016
118 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Conflicting interpretations of pathogenicity rs886042362 GRCh37 Chromosome 11, 71146501: 71146501
119 DHCR7 NM_001360.2(DHCR7): c.1348delC (p.Arg450Alafs) deletion Conflicting interpretations of pathogenicity rs886042362 GRCh38 Chromosome 11, 71435455: 71435455
120 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh37 Chromosome 11, 71146711: 71146711
121 DHCR7 NM_001360.2(DHCR7): c.1138T> C (p.Cys380Arg) single nucleotide variant Likely pathogenic rs373306653 GRCh38 Chromosome 11, 71435665: 71435665
122 DHCR7 NM_001360.2(DHCR7): c.1370G> A (p.Arg457Gln) single nucleotide variant Uncertain significance rs886043122 GRCh37 Chromosome 11, 71146479: 71146479
123 DHCR7 NM_001360.2(DHCR7): c.1370G> A (p.Arg457Gln) single nucleotide variant Uncertain significance rs886043122 GRCh38 Chromosome 11, 71435433: 71435433
124 DHCR7 NM_001360.2(DHCR7): c.122C> T (p.Ala41Val) single nucleotide variant Uncertain significance rs761265690 GRCh37 Chromosome 11, 71155238: 71155238
125 DHCR7 NM_001360.2(DHCR7): c.122C> T (p.Ala41Val) single nucleotide variant Uncertain significance rs761265690 GRCh38 Chromosome 11, 71444192: 71444192
126 DHCR7 NM_001360.2(DHCR7): c.927C> A (p.Gly309=) single nucleotide variant Conflicting interpretations of pathogenicity rs149974099 GRCh37 Chromosome 11, 71148894: 71148894
127 DHCR7 NM_001360.2(DHCR7): c.927C> A (p.Gly309=) single nucleotide variant Conflicting interpretations of pathogenicity rs149974099 GRCh38 Chromosome 11, 71437848: 71437848
128 DHCR7 NM_001360.2(DHCR7): c.840C> T (p.Tyr280=) single nucleotide variant Uncertain significance rs148468879 GRCh37 Chromosome 11, 71148981: 71148981
129 DHCR7 NM_001360.2(DHCR7): c.840C> T (p.Tyr280=) single nucleotide variant Uncertain significance rs148468879 GRCh38 Chromosome 11, 71437935: 71437935
130 DHCR7 NM_001360.2(DHCR7): c.742T> C (p.Trp248Arg) single nucleotide variant Uncertain significance rs886044494 GRCh37 Chromosome 11, 71150014: 71150014
131 DHCR7 NM_001360.2(DHCR7): c.742T> C (p.Trp248Arg) single nucleotide variant Uncertain significance rs886044494 GRCh38 Chromosome 11, 71438968: 71438968
132 DHCR7 NM_001360.2(DHCR7): c.*790C> T single nucleotide variant Uncertain significance rs12407 GRCh38 Chromosome 11, 71434585: 71434585
133 DHCR7 NM_001360.2(DHCR7): c.*790C> T single nucleotide variant Uncertain significance rs12407 GRCh37 Chromosome 11, 71145631: 71145631
134 DHCR7 NM_001360.2(DHCR7): c.*779T> C single nucleotide variant Uncertain significance rs541282653 GRCh38 Chromosome 11, 71434596: 71434596
135 DHCR7 NM_001360.2(DHCR7): c.*779T> C single nucleotide variant Uncertain significance rs541282653 GRCh37 Chromosome 11, 71145642: 71145642
136 DHCR7 NM_001360.2(DHCR7): c.*734A> G single nucleotide variant Benign rs7690 GRCh38 Chromosome 11, 71434641: 71434641
137 DHCR7 NM_001360.2(DHCR7): c.*734A> G single nucleotide variant Benign rs7690 GRCh37 Chromosome 11, 71145687: 71145687
138 DHCR7 NM_001360.2(DHCR7): c.*161_*172delCTGTTCCTTGCT deletion Likely benign rs141483210 GRCh38 Chromosome 11, 71435203: 71435214
139 DHCR7 NM_001360.2(DHCR7): c.*161_*172delCTGTTCCTTGCT deletion Likely benign rs141483210 GRCh37 Chromosome 11, 71146249: 71146260
140 DHCR7 NM_001360.2(DHCR7): c.1273G> A (p.Gly425Ser) single nucleotide variant Uncertain significance rs760242 GRCh38 Chromosome 11, 71435530: 71435530
141 DHCR7 NM_001360.2(DHCR7): c.1273G> A (p.Gly425Ser) single nucleotide variant Uncertain significance rs760242 GRCh37 Chromosome 11, 71146576: 71146576
142 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh37 Chromosome 11, 71146886: 71146886
143 DHCR7 NM_001360.2(DHCR7): c.964-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs138659167 GRCh38 Chromosome 11, 71435840: 71435840
144 DHCR7 NM_001360.2(DHCR7): c.-6-4G> A single nucleotide variant Uncertain significance rs183610891 GRCh37 Chromosome 11, 71156008: 71156008
145 DHCR7 NM_001360.2(DHCR7): c.-6-4G> A single nucleotide variant Uncertain significance rs183610891 GRCh38 Chromosome 11, 71444962: 71444962
146 DHCR7 NM_001360.2(DHCR7): c.-23T> C single nucleotide variant Likely benign rs12573951 GRCh37 Chromosome 11, 71158672: 71158672
147 DHCR7 NM_001360.2(DHCR7): c.-23T> C single nucleotide variant Likely benign rs12573951 GRCh38 Chromosome 11, 71447626: 71447626
148 DHCR7 NM_001360.2(DHCR7): c.-209G> A single nucleotide variant Uncertain significance rs886048620 GRCh37 Chromosome 11, 71159413: 71159413
149 DHCR7 NM_001360.2(DHCR7): c.-209G> A single nucleotide variant Uncertain significance rs886048620 GRCh38 Chromosome 11, 71448367: 71448367
150 DHCR7 NM_001360.2(DHCR7): c.*765G> A single nucleotide variant Uncertain significance rs777137931 GRCh38 Chromosome 11, 71434610: 71434610
151 DHCR7 NM_001360.2(DHCR7): c.*765G> A single nucleotide variant Uncertain significance rs777137931 GRCh37 Chromosome 11, 71145656: 71145656
152 DHCR7 NM_001360.2(DHCR7): c.*700G> A single nucleotide variant Uncertain significance rs886048612 GRCh38 Chromosome 11, 71434675: 71434675
153 DHCR7 NM_001360.2(DHCR7): c.*700G> A single nucleotide variant Uncertain significance rs886048612 GRCh37 Chromosome 11, 71145721: 71145721
154 DHCR7 NM_001360.2(DHCR7): c.*438G> A single nucleotide variant Uncertain significance rs886048615 GRCh38 Chromosome 11, 71434937: 71434937
155 DHCR7 NM_001360.2(DHCR7): c.*438G> A single nucleotide variant Uncertain significance rs886048615 GRCh37 Chromosome 11, 71145983: 71145983
156 DHCR7 NM_001360.2(DHCR7): c.*417C> T single nucleotide variant Uncertain significance rs537429160 GRCh38 Chromosome 11, 71434958: 71434958
157 DHCR7 NM_001360.2(DHCR7): c.*417C> T single nucleotide variant Uncertain significance rs537429160 GRCh37 Chromosome 11, 71146004: 71146004
158 DHCR7 NM_001360.2(DHCR7): c.*261G> A single nucleotide variant Uncertain significance rs886048617 GRCh38 Chromosome 11, 71435114: 71435114
159 DHCR7 NM_001360.2(DHCR7): c.*261G> A single nucleotide variant Uncertain significance rs886048617 GRCh37 Chromosome 11, 71146160: 71146160
160 DHCR7 NM_001360.2(DHCR7): c.241C> T (p.Arg81Trp) single nucleotide variant Uncertain significance rs775735710 GRCh37 Chromosome 11, 71155119: 71155119
161 DHCR7 NM_001360.2(DHCR7): c.241C> T (p.Arg81Trp) single nucleotide variant Uncertain significance rs775735710 GRCh38 Chromosome 11, 71444073: 71444073
162 DHCR7 NM_001360.2(DHCR7): c.*681T> C single nucleotide variant Uncertain significance rs886048613 GRCh38 Chromosome 11, 71434694: 71434694
163 DHCR7 NM_001360.2(DHCR7): c.*681T> C single nucleotide variant Uncertain significance rs886048613 GRCh37 Chromosome 11, 71145740: 71145740
164 DHCR7 NM_001360.2(DHCR7): c.*644G> A single nucleotide variant Uncertain significance rs886048614 GRCh38 Chromosome 11, 71434731: 71434731
165 DHCR7 NM_001360.2(DHCR7): c.*644G> A single nucleotide variant Uncertain significance rs886048614 GRCh37 Chromosome 11, 71145777: 71145777
166 DHCR7 NM_001360.2(DHCR7): c.*451A> G single nucleotide variant Uncertain significance rs11233662 GRCh38 Chromosome 11, 71434924: 71434924
167 DHCR7 NM_001360.2(DHCR7): c.*451A> G single nucleotide variant Uncertain significance rs11233662 GRCh37 Chromosome 11, 71145970: 71145970
168 DHCR7 NM_001360.2(DHCR7): c.1389C> T (p.Thr463=) single nucleotide variant Uncertain significance rs200477386 GRCh38 Chromosome 11, 71435414: 71435414
169 DHCR7 NM_001360.2(DHCR7): c.1389C> T (p.Thr463=) single nucleotide variant Uncertain significance rs200477386 GRCh37 Chromosome 11, 71146460: 71146460
170 DHCR7 NM_001360.2(DHCR7): c.1083C> A (p.Phe361Leu) single nucleotide variant Uncertain significance rs780088227 GRCh37 Chromosome 11, 71146766: 71146766
171 DHCR7 NM_001360.2(DHCR7): c.1083C> A (p.Phe361Leu) single nucleotide variant Uncertain significance rs780088227 GRCh38 Chromosome 11, 71435720: 71435720
172 DHCR7 NM_001360.2(DHCR7): c.570C> T (p.Ala190=) single nucleotide variant Conflicting interpretations of pathogenicity rs74909468 GRCh37 Chromosome 11, 71152329: 71152329
173 DHCR7 NM_001360.2(DHCR7): c.570C> T (p.Ala190=) single nucleotide variant Conflicting interpretations of pathogenicity rs74909468 GRCh38 Chromosome 11, 71441283: 71441283
174 DHCR7 NM_001360.2(DHCR7): c.99-5C> T single nucleotide variant Uncertain significance rs372886043 GRCh37 Chromosome 11, 71155266: 71155266
175 DHCR7 NM_001360.2(DHCR7): c.99-5C> T single nucleotide variant Uncertain significance rs372886043 GRCh38 Chromosome 11, 71444220: 71444220
176 DHCR7 NM_001360.2(DHCR7): c.-34T> G single nucleotide variant Uncertain significance rs145915789 GRCh37 Chromosome 11, 71158683: 71158683
177 DHCR7 NM_001360.2(DHCR7): c.-34T> G single nucleotide variant Uncertain significance rs145915789 GRCh38 Chromosome 11, 71447637: 71447637
178 DHCR7 NM_001360.2(DHCR7): c.-132+3G> A single nucleotide variant Uncertain significance rs886048618 GRCh37 Chromosome 11, 71159333: 71159333
179 DHCR7 NM_001360.2(DHCR7): c.-132+3G> A single nucleotide variant Uncertain significance rs886048618 GRCh38 Chromosome 11, 71448287: 71448287
180 DHCR7 NM_001360.2(DHCR7): c.-192C> T single nucleotide variant Uncertain significance rs886048619 GRCh37 Chromosome 11, 71159396: 71159396
181 DHCR7 NM_001360.2(DHCR7): c.-192C> T single nucleotide variant Uncertain significance rs886048619 GRCh38 Chromosome 11, 71448350: 71448350
182 DHCR7 NM_001360.2(DHCR7): c.-195G> T single nucleotide variant Uncertain significance rs141057811 GRCh37 Chromosome 11, 71159399: 71159399
183 DHCR7 NM_001360.2(DHCR7): c.-195G> T single nucleotide variant Uncertain significance rs141057811 GRCh38 Chromosome 11, 71448353: 71448353
184 DHCR7 NM_001360.2(DHCR7): c.-225C> T single nucleotide variant Likely benign rs4944946 GRCh37 Chromosome 11, 71159429: 71159429
185 DHCR7 NM_001360.2(DHCR7): c.-225C> T single nucleotide variant Likely benign rs4944946 GRCh38 Chromosome 11, 71448383: 71448383
186 DHCR7 NM_001360.2(DHCR7): c.-225C> G single nucleotide variant Likely benign rs4944946 GRCh37 Chromosome 11, 71159429: 71159429
187 DHCR7 NM_001360.2(DHCR7): c.-225C> G single nucleotide variant Likely benign rs4944946 GRCh38 Chromosome 11, 71448383: 71448383
188 DHCR7 NM_001360.2(DHCR7): c.*761A> T single nucleotide variant Uncertain significance rs886048611 GRCh38 Chromosome 11, 71434614: 71434614
189 DHCR7 NM_001360.2(DHCR7): c.*761A> T single nucleotide variant Uncertain significance rs886048611 GRCh37 Chromosome 11, 71145660: 71145660
190 DHCR7 NM_001360.2(DHCR7): c.*643C> T single nucleotide variant Benign rs1044535 GRCh38 Chromosome 11, 71434732: 71434732
191 DHCR7 NM_001360.2(DHCR7): c.*643C> T single nucleotide variant Benign rs1044535 GRCh37 Chromosome 11, 71145778: 71145778
192 DHCR7 NM_001360.2(DHCR7): c.*480C> T single nucleotide variant Likely benign rs1790345 GRCh38 Chromosome 11, 71434895: 71434895
193 DHCR7 NM_001360.2(DHCR7): c.*480C> T single nucleotide variant Likely benign rs1790345 GRCh37 Chromosome 11, 71145941: 71145941
194 DHCR7 NM_001360.2(DHCR7): c.*424G> A single nucleotide variant Uncertain significance rs886048616 GRCh38 Chromosome 11, 71434951: 71434951
195 DHCR7 NM_001360.2(DHCR7): c.*424G> A single nucleotide variant Uncertain significance rs886048616 GRCh37 Chromosome 11, 71145997: 71145997
196 DHCR7 NM_001360.2(DHCR7): c.*324C> T single nucleotide variant Uncertain significance rs759058043 GRCh38 Chromosome 11, 71435051: 71435051
197 DHCR7 NM_001360.2(DHCR7): c.*324C> T single nucleotide variant Uncertain significance rs759058043 GRCh37 Chromosome 11, 71146097: 71146097
198 DHCR7 NM_001360.2(DHCR7): c.*119G> A single nucleotide variant Uncertain significance rs151230950 GRCh38 Chromosome 11, 71435256: 71435256
199 DHCR7 NM_001360.2(DHCR7): c.*119G> A single nucleotide variant Uncertain significance rs151230950 GRCh37 Chromosome 11, 71146302: 71146302
200 DHCR7 NM_001360.2(DHCR7): c.*25G> A single nucleotide variant Uncertain significance rs778207094 GRCh38 Chromosome 11, 71435350: 71435350
201 DHCR7 NM_001360.2(DHCR7): c.*25G> A single nucleotide variant Uncertain significance rs778207094 GRCh37 Chromosome 11, 71146396: 71146396
202 DHCR7 NM_001360.2(DHCR7): c.1381C> T (p.Arg461Cys) single nucleotide variant Uncertain significance rs199506852 GRCh38 Chromosome 11, 71435422: 71435422
203 DHCR7 NM_001360.2(DHCR7): c.1381C> T (p.Arg461Cys) single nucleotide variant Uncertain significance rs199506852 GRCh37 Chromosome 11, 71146468: 71146468
204 DHCR7 NM_001360.2(DHCR7): c.1091C> T (p.Thr364Met) single nucleotide variant Uncertain significance rs567600444 GRCh37 Chromosome 11, 71146758: 71146758
205 DHCR7 NM_001360.2(DHCR7): c.1091C> T (p.Thr364Met) single nucleotide variant Uncertain significance rs567600444 GRCh38 Chromosome 11, 71435712: 71435712
206 DHCR7 NM_001360.2(DHCR7): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs150563256 GRCh37 Chromosome 11, 71155071: 71155071
207 DHCR7 NM_001360.2(DHCR7): c.289G> A (p.Ala97Thr) single nucleotide variant Uncertain significance rs150563256 GRCh38 Chromosome 11, 71444025: 71444025
208 DHCR7 NM_001360.2(DHCR7): c.-35C> T single nucleotide variant Likely benign rs75974711 GRCh37 Chromosome 11, 71158684: 71158684
209 DHCR7 NM_001360.2(DHCR7): c.-35C> T single nucleotide variant Likely benign rs75974711 GRCh38 Chromosome 11, 71447638: 71447638
210 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh38 Chromosome 11, 71435604: 71435604
211 DHCR7 NM_001360.2(DHCR7): c.1199G> A (p.Trp400Ter) single nucleotide variant Likely pathogenic rs1057516493 GRCh37 Chromosome 11, 71146650: 71146650
212 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh38 Chromosome 11, 71435722: 71435723
213 DHCR7 NM_001360.2(DHCR7): c.1080_1081delGT (p.Phe361Profs) deletion Likely pathogenic rs1057516517 GRCh37 Chromosome 11, 71146768: 71146769
214 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh37 Chromosome 11, 71146783: 71146783
215 DHCR7 NM_001360.2(DHCR7): c.1066delC (p.His356Thrfs) deletion Likely pathogenic rs774291653 GRCh38 Chromosome 11, 71435737: 71435737
216 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh37 Chromosome 11, 71146854: 71146854
217 DHCR7 NM_001360.2(DHCR7): c.995delT (p.Leu332Argfs) deletion Likely pathogenic rs1057516618 GRCh38 Chromosome 11, 71435808: 71435808
218 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh38 Chromosome 11, 71435812: 71435812
219 DHCR7 NM_001360.2(DHCR7): c.991C> T (p.Gln331Ter) single nucleotide variant Likely pathogenic rs1057516610 GRCh37 Chromosome 11, 71146858: 71146858
220 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh37 Chromosome 11, 71146868: 71146868
221 DHCR7 NM_001360.2(DHCR7): c.981C> A (p.Tyr327Ter) single nucleotide variant Likely pathogenic rs1057516375 GRCh38 Chromosome 11, 71435822: 71435822
222 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh38 Chromosome 11, 71437810: 71437810
223 DHCR7 NM_001360.2(DHCR7): c.963+2T> G single nucleotide variant Likely pathogenic rs1057517070 GRCh37 Chromosome 11, 71148856: 71148856
224 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh37 Chromosome 11, 71148857: 71148857
225 DHCR7 NM_001360.2(DHCR7): c.963+1G> T single nucleotide variant Likely pathogenic rs1057516973 GRCh38 Chromosome 11, 71437811: 71437811
226 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh37 Chromosome 11, 71149923: 71149923
227 DHCR7 NM_001360.2(DHCR7): c.831+2T> A single nucleotide variant Likely pathogenic rs1057516920 GRCh38 Chromosome 11, 71438877: 71438877
228 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh38 Chromosome 11, 71438906: 71438906
229 DHCR7 NM_001360.2(DHCR7): c.804delT (p.Asn268Lysfs) deletion Likely pathogenic rs1057516783 GRCh37 Chromosome 11, 71149952: 71149952
230 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh37 Chromosome 11, 71150130: 71150130
231 DHCR7 NM_001360.2(DHCR7): c.627-1G> A single nucleotide variant Likely pathogenic rs1057517210 GRCh38 Chromosome 11, 71439084: 71439084
232 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh38 Chromosome 11, 71441441: 71441441
233 DHCR7 NM_001360.2(DHCR7): c.413-1G> A single nucleotide variant Likely pathogenic rs1057517307 GRCh37 Chromosome 11, 71152487: 71152487
234 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Pathogenic/Likely pathogenic rs746482788 GRCh38 Chromosome 11, 71442258: 71442290
235 DHCR7 NM_001360.2(DHCR7): c.385_412+5del33 deletion Pathogenic/Likely pathogenic rs746482788 GRCh37 Chromosome 11, 71153304: 71153336
236 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh38 Chromosome 11, 71444871: 71444871
237 DHCR7 NM_001360.2(DHCR7): c.82C> T (p.Gln28Ter) single nucleotide variant Likely pathogenic rs756564881 GRCh37 Chromosome 11, 71155917: 71155917
238 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh38 Chromosome 11, 71444937: 71444937
239 DHCR7 NM_001360.2(DHCR7): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1057516977 GRCh37 Chromosome 11, 71155983: 71155983
240 DHCR7 NM_001360.2(DHCR7): c.440G> A (p.Gly147Asp) single nucleotide variant Likely pathogenic rs777425801 GRCh37 Chromosome 11, 71152459: 71152459
241 DHCR7 NM_001360.2(DHCR7): c.440G> A (p.Gly147Asp) single nucleotide variant Likely pathogenic rs777425801 GRCh38 Chromosome 11, 71441413: 71441413
242 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh38 Chromosome 11, 71435475: 71435475
243 DHCR7 NM_001163817.1(DHCR7): c.1328G> A (p.Arg443His) single nucleotide variant Pathogenic rs781687341 GRCh37 Chromosome 11, 71146521: 71146521
244 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200334114 GRCh37 Chromosome 11, 71155910: 71155910
245 DHCR7 NM_001163817.1(DHCR7): c.89G> C (p.Gly30Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200334114 GRCh38 Chromosome 11, 71444864: 71444864
246 DHCR7 NM_001360.2(DHCR7): c.988G> A (p.Val330Met) single nucleotide variant Uncertain significance rs139724817 GRCh37 Chromosome 11, 71146861: 71146861
247 DHCR7 NM_001360.2(DHCR7): c.988G> A (p.Val330Met) single nucleotide variant Uncertain significance rs139724817 GRCh38 Chromosome 11, 71435815: 71435815
248 DHCR7 NM_001360.2(DHCR7): c.655T> G (p.Tyr219Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779896782 GRCh37 Chromosome 11, 71150101: 71150101
249 DHCR7 NM_001360.2(DHCR7): c.655T> G (p.Tyr219Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs779896782 GRCh38 Chromosome 11, 71439055: 71439055
250 DHCR7 NM_001360.2(DHCR7): c.1337G> A (p.Arg446Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751604696 GRCh37 Chromosome 11, 71146512: 71146512
251 DHCR7 NM_001360.2(DHCR7): c.1337G> A (p.Arg446Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751604696 GRCh38 Chromosome 11, 71435466: 71435466
252 DHCR7 NM_001360.2(DHCR7): c.719A> G (p.Asn240Ser) single nucleotide variant Uncertain significance rs148609143 GRCh37 Chromosome 11, 71150037: 71150037
253 DHCR7 NM_001360.2(DHCR7): c.719A> G (p.Asn240Ser) single nucleotide variant Uncertain significance rs148609143 GRCh38 Chromosome 11, 71438991: 71438991
254 DHCR7 NM_001360.2(DHCR7): c.1406G> C (p.Arg469Pro) single nucleotide variant Uncertain significance rs201150384 GRCh37 Chromosome 11, 71146443: 71146443
255 DHCR7 NM_001360.2(DHCR7): c.1406G> C (p.Arg469Pro) single nucleotide variant Uncertain significance rs201150384 GRCh38 Chromosome 11, 71435397: 71435397
256 DHCR7 NM_001360.2(DHCR7): c.1018G> A (p.Val340Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148081697 GRCh37 Chromosome 11, 71146831: 71146831
257 DHCR7 NM_001360.2(DHCR7): c.1018G> A (p.Val340Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148081697 GRCh38 Chromosome 11, 71435785: 71435785
258 DHCR7 NM_001360.2(DHCR7): c.970T> C (p.Tyr324His) single nucleotide variant Conflicting interpretations of pathogenicity rs1173707321 GRCh38 Chromosome 11, 71435833: 71435833
259 DHCR7 NM_001360.2(DHCR7): c.970T> C (p.Tyr324His) single nucleotide variant Conflicting interpretations of pathogenicity rs1173707321 GRCh37 Chromosome 11, 71146879: 71146879
260 DHCR7 NM_001360.2(DHCR7): c.470T> C (p.Leu157Pro) single nucleotide variant Pathogenic/Likely pathogenic rs753960624 GRCh37 Chromosome 11, 71152429: 71152429
261 DHCR7 NM_001360.2(DHCR7): c.470T> C (p.Leu157Pro) single nucleotide variant Pathogenic/Likely pathogenic rs753960624 GRCh38 Chromosome 11, 71441383: 71441383
262 DHCR7 NM_001360.2(DHCR7): c.670G> A (p.Glu224Lys) single nucleotide variant Uncertain significance rs373121544 GRCh37 Chromosome 11, 71150086: 71150086
263 DHCR7 NM_001360.2(DHCR7): c.670G> A (p.Glu224Lys) single nucleotide variant Uncertain significance rs373121544 GRCh38 Chromosome 11, 71439040: 71439040
264 DHCR7 NM_001360.2(DHCR7): c.862G> A (p.Glu288Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs565893436 GRCh37 Chromosome 11, 71148959: 71148959
265 DHCR7 NM_001360.2(DHCR7): c.862G> A (p.Glu288Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs565893436 GRCh38 Chromosome 11, 71437913: 71437913
266 DHCR7 NM_001360.2(DHCR7): c.1409T> A (p.Leu470Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1331331095 GRCh37 Chromosome 11, 71146440: 71146440
267 DHCR7 NM_001360.2(DHCR7): c.1409T> A (p.Leu470Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1331331095 GRCh38 Chromosome 11, 71435394: 71435394
268 DHCR7 NM_001360.2(DHCR7): c.770C> T (p.Ala257Val) single nucleotide variant Uncertain significance rs770925697 GRCh38 Chromosome 11, 71438940: 71438940
269 DHCR7 NM_001360.2(DHCR7): c.770C> T (p.Ala257Val) single nucleotide variant Uncertain significance rs770925697 GRCh37 Chromosome 11, 71149986: 71149986
270 DHCR7 NM_001360.2(DHCR7): c.159C> T (p.Ile53=) single nucleotide variant Likely benign rs752952700 GRCh38 Chromosome 11, 71444155: 71444155
271 DHCR7 NM_001360.2(DHCR7): c.159C> T (p.Ile53=) single nucleotide variant Likely benign rs752952700 GRCh37 Chromosome 11, 71155201: 71155201
272 DHCR7 NM_001360.2(DHCR7): c.1426T> A (p.Ter476Lys) single nucleotide variant Likely pathogenic rs775034584 GRCh37 Chromosome 11, 71146423: 71146423
273 DHCR7 NM_001360.2(DHCR7): c.1426T> A (p.Ter476Lys) single nucleotide variant Likely pathogenic rs775034584 GRCh38 Chromosome 11, 71435377: 71435377
274 DHCR7 NM_001360.2(DHCR7): c.1349G> A (p.Arg450His) single nucleotide variant Uncertain significance rs542266962 GRCh37 Chromosome 11, 71146500: 71146500
275 DHCR7 NM_001360.2(DHCR7): c.1349G> A (p.Arg450His) single nucleotide variant Uncertain significance rs542266962 GRCh38 Chromosome 11, 71435454: 71435454
276 DHCR7 NM_001360.2(DHCR7): c.1210C> G (p.Arg404Gly) single nucleotide variant Uncertain significance rs61757582 GRCh37 Chromosome 11, 71146639: 71146639
277 DHCR7 NM_001360.2(DHCR7): c.1210C> G (p.Arg404Gly) single nucleotide variant Uncertain significance rs61757582 GRCh38 Chromosome 11, 71435593: 71435593
278 DHCR7 NM_001360.2(DHCR7): c.1079T> C (p.Leu360Pro) single nucleotide variant Uncertain significance rs1555145619 GRCh37 Chromosome 11, 71146770: 71146770
279 DHCR7 NM_001360.2(DHCR7): c.1079T> C (p.Leu360Pro) single nucleotide variant Uncertain significance rs1555145619 GRCh38 Chromosome 11, 71435724: 71435724
280 DHCR7 NM_001360.2(DHCR7): c.1057delG (p.Val353Trpfs) deletion Likely pathogenic rs759720450 GRCh37 Chromosome 11, 71146791: 71146792
281 DHCR7 NM_001360.2(DHCR7): c.1057delG (p.Val353Trpfs) deletion Likely pathogenic rs759720450 GRCh38 Chromosome 11, 71435746: 71435746
282 DHCR7 NM_001360.2(DHCR7): c.1022T> C (p.Leu341Pro) single nucleotide variant Uncertain significance rs1317526744 GRCh37 Chromosome 11, 71146827: 71146827
283 DHCR7 NM_001360.2(DHCR7): c.1022T> C (p.Leu341Pro) single nucleotide variant Uncertain significance rs1317526744 GRCh38 Chromosome 11, 71435781: 71435781
284 DHCR7 NM_001360.2(DHCR7): c.1010_1018del9 (p.Ala337_Gly339del) deletion Uncertain significance rs1555145633 GRCh37 Chromosome 11, 71146830: 71146839
285 DHCR7 NM_001360.2(DHCR7): c.1010_1018del9 (p.Ala337_Gly339del) deletion Uncertain significance rs1555145633 GRCh38 Chromosome 11, 71435785: 71435793
286 DHCR7 NM_001360.2(DHCR7): c.952delT (p.Tyr318Thrfs) deletion Likely pathogenic rs1555145859 GRCh37 Chromosome 11, 71148868: 71148869
287 DHCR7 NM_001360.2(DHCR7): c.952delT (p.Tyr318Thrfs) deletion Likely pathogenic rs1555145859 GRCh38 Chromosome 11, 71437823: 71437823
288 DHCR7 NM_001360.2(DHCR7): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs1555146021 GRCh37 Chromosome 11, 71149948: 71149948
289 DHCR7 NM_001360.2(DHCR7): c.808A> G (p.Met270Val) single nucleotide variant Uncertain significance rs1555146021 GRCh38 Chromosome 11, 71438902: 71438902
290 DHCR7 NM_001360.2(DHCR7): c.704T> C (p.Phe235Ser) single nucleotide variant Uncertain significance rs1555146061 GRCh37 Chromosome 11, 71150052: 71150052
291 DHCR7 NM_001360.2(DHCR7): c.704T> C (p.Phe235Ser) single nucleotide variant Uncertain significance rs1555146061 GRCh38 Chromosome 11, 71439006: 71439006
292 DHCR7 NM_001360.2(DHCR7): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs769583377 GRCh37 Chromosome 11, 71150118: 71150118
293 DHCR7 NM_001360.2(DHCR7): c.638G> A (p.Gly213Asp) single nucleotide variant Uncertain significance rs769583377 GRCh38 Chromosome 11, 71439072: 71439072
294 DHCR7 NM_001360.2(DHCR7): c.523G> A (p.Asp175Asn) single nucleotide variant Uncertain significance rs368269558 GRCh37 Chromosome 11, 71152376: 71152376
295 DHCR7 NM_001360.2(DHCR7): c.523G> A (p.Asp175Asn) single nucleotide variant Uncertain significance rs368269558 GRCh38 Chromosome 11, 71441330: 71441330
296 DHCR7 NM_001360.2(DHCR7): c.521T> C (p.Phe174Ser) single nucleotide variant Uncertain significance rs769218623 GRCh37 Chromosome 11, 71152378: 71152378
297 DHCR7 NM_001360.2(DHCR7): c.521T> C (p.Phe174Ser) single nucleotide variant Uncertain significance rs769218623 GRCh38 Chromosome 11, 71441332: 71441332
298 DHCR7 NM_001360.2(DHCR7): c.413-2A> G single nucleotide variant Likely pathogenic rs775575609 GRCh37 Chromosome 11, 71152488: 71152488
299 DHCR7 NM_001360.2(DHCR7): c.413-2A> G single nucleotide variant Likely pathogenic rs775575609 GRCh38 Chromosome 11, 71441442: 71441442
300 DHCR7 NM_001360.2(DHCR7): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs763333510 GRCh37 Chromosome 11, 71153324: 71153324
301 DHCR7 NM_001360.2(DHCR7): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs763333510 GRCh38 Chromosome 11, 71442278: 71442278
302 DHCR7 NM_001360.2(DHCR7): c.326T> C (p.Leu109Pro) single nucleotide variant Likely pathogenic rs121912195 GRCh37 Chromosome 11, 71153395: 71153395
303 DHCR7 NM_001360.2(DHCR7): c.326T> C (p.Leu109Pro) single nucleotide variant Likely pathogenic rs121912195 GRCh38 Chromosome 11, 71442349: 71442349
304 DHCR7 NM_001360.2(DHCR7): c.232G> A (p.Gly78Arg) single nucleotide variant Uncertain significance rs373352413 GRCh37 Chromosome 11, 71155128: 71155128
305 DHCR7 NM_001360.2(DHCR7): c.232G> A (p.Gly78Arg) single nucleotide variant Uncertain significance rs373352413 GRCh38 Chromosome 11, 71444082: 71444082
306 DHCR7 NM_001360.2(DHCR7): c.1386C> A (p.Tyr462Ter) single nucleotide variant Uncertain significance rs1453500228 GRCh37 Chromosome 11, 71146463: 71146463
307 DHCR7 NM_001360.2(DHCR7): c.1386C> A (p.Tyr462Ter) single nucleotide variant Uncertain significance rs1453500228 GRCh38 Chromosome 11, 71435417: 71435417
308 DHCR7 NM_001360.2(DHCR7): c.1327C> T (p.Arg443Cys) single nucleotide variant Likely pathogenic rs535561852 GRCh37 Chromosome 11, 71146522: 71146522
309 DHCR7 NM_001360.2(DHCR7): c.1327C> T (p.Arg443Cys) single nucleotide variant Likely pathogenic rs535561852 GRCh38 Chromosome 11, 71435476: 71435476
310 DHCR7 NM_001360.2(DHCR7): c.1277A> C (p.His426Pro) single nucleotide variant Uncertain significance rs1354718634 GRCh37 Chromosome 11, 71146572: 71146572
311 DHCR7 NM_001360.2(DHCR7): c.1277A> C (p.His426Pro) single nucleotide variant Uncertain significance rs1354718634 GRCh38 Chromosome 11, 71435526: 71435526
312 DHCR7 NM_001360.2(DHCR7): c.1231G> A (p.Asp411Asn) single nucleotide variant Uncertain significance rs372055524 GRCh37 Chromosome 11, 71146618: 71146618
313 DHCR7 NM_001360.2(DHCR7): c.1231G> A (p.Asp411Asn) single nucleotide variant Uncertain significance rs372055524 GRCh38 Chromosome 11, 71435572: 71435572
314 DHCR7 NM_001360.2(DHCR7): c.1222T> C (p.Tyr408His) single nucleotide variant Likely pathogenic rs1046560765 GRCh37 Chromosome 11, 71146627: 71146627
315 DHCR7 NM_001360.2(DHCR7): c.1222T> C (p.Tyr408His) single nucleotide variant Likely pathogenic rs1046560765 GRCh38 Chromosome 11, 71435581: 71435581
316 DHCR7 NM_001360.2(DHCR7): c.1097G> T (p.Gly366Val) single nucleotide variant Uncertain significance rs1555145614 GRCh37 Chromosome 11, 71146752: 71146752
317 DHCR7 NM_001360.2(DHCR7): c.1097G> T (p.Gly366Val) single nucleotide variant Uncertain significance rs1555145614 GRCh38 Chromosome 11, 71435706: 71435706
318 DHCR7 NM_001360.2(DHCR7): c.1004delC (p.Pro335Argfs) deletion Likely pathogenic rs1555145646 GRCh37 Chromosome 11, 71146844: 71146845
319 DHCR7 NM_001360.2(DHCR7): c.1004delC (p.Pro335Argfs) deletion Likely pathogenic rs1555145646 GRCh38 Chromosome 11, 71435799: 71435799
320 DHCR7 NM_001360.2(DHCR7): c.939G> A (p.Trp313Ter) single nucleotide variant Likely pathogenic rs1555145862 GRCh37 Chromosome 11, 71148882: 71148882
321 DHCR7 NM_001360.2(DHCR7): c.939G> A (p.Trp313Ter) single nucleotide variant Likely pathogenic rs1555145862 GRCh38 Chromosome 11, 71437836: 71437836
322 DHCR7 NM_001360.2(DHCR7): c.934_935delGT (p.Val312Leufs) deletion Likely pathogenic rs1469918162 GRCh37 Chromosome 11, 71148885: 71148887
323 DHCR7 NM_001360.2(DHCR7): c.934_935delGT (p.Val312Leufs) deletion Likely pathogenic rs1469918162 GRCh38 Chromosome 11, 71437840: 71437841
324 DHCR7 NM_001360.2(DHCR7): c.861C> A (p.Asn287Lys) single nucleotide variant Likely pathogenic rs766495775 GRCh37 Chromosome 11, 71148960: 71148960
325 DHCR7 NM_001360.2(DHCR7): c.861C> A (p.Asn287Lys) single nucleotide variant Likely pathogenic rs766495775 GRCh38 Chromosome 11, 71437914: 71437914
326 DHCR7 NM_001360.2(DHCR7): c.682C> T (p.Arg228Trp) single nucleotide variant Uncertain significance rs775773057 GRCh37 Chromosome 11, 71150074: 71150074
327 DHCR7 NM_001360.2(DHCR7): c.682C> T (p.Arg228Trp) single nucleotide variant Uncertain significance rs775773057 GRCh38 Chromosome 11, 71439028: 71439028
328 DHCR7 NM_001360.2(DHCR7): c.536C> T (p.Pro179Leu) single nucleotide variant Uncertain significance rs1555146436 GRCh37 Chromosome 11, 71152363: 71152363
329 DHCR7 NM_001360.2(DHCR7): c.536C> T (p.Pro179Leu) single nucleotide variant Uncertain significance rs1555146436 GRCh38 Chromosome 11, 71441317: 71441317
330 DHCR7 NM_001360.2(DHCR7): c.296T> C (p.Leu99Pro) single nucleotide variant Likely pathogenic rs104886041 GRCh37 Chromosome 11, 71155064: 71155064
331