61. BioMed Central | Full Text | Mig12, A Novel Opitz Syndrome Gene Product Partner, opitz syndrome (OS) is a congenital disorder affecting primarily midline The role of the opitz syndrome gene product, Mid1, in the pathogenesis of this http://www.biomedcentral.com/1471-2121/5/9

home journals A-Z subject areas advanced search ... Volume 5 Viewing options Abstract Full text PDF Associated material: PubMed record Related literature: Articles citing this article on Google Scholar on ISI Web of Science Other articles by authors ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules Caterina Berti Bianca Fontanella Rosa Ferrentino and Germana Meroni Telethon Institute of Genetics and Medicine (TIGEM), 80131 Naples, Italy BMC Cell Biology The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1471-2121/5/9 Received Accepted Published Outline Abstract Abstract Background Results Discussion ... References Background Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as hypertelorism, cleft palate, and hypospadias. The gene responsible for the X-linked form of this disease, , encodes a TRIM/RBCC protein that is anchored to the microtubules. The association of Mid1 with the cytoskeleton is regulated by dynamic phosphorylation, through the interaction with the

62. BioMed Central | Abstract | Mig12, A Novel Opitz Syndrome Gene Product Partner, Mig12, a novel opitz syndrome gene product partner, is expressed in the embryonicventral Opitz G/BBB syndrome is a genetic disorder characterized by http://www.biomedcentral.com/1471-2121/5/9/abstract

home journals A-Z subject areas advanced search ... Volume 5 Viewing options Abstract Full text PDF Associated material: PubMed record Related literature: Articles citing this article on Google Scholar on ISI Web of Science Other articles by authors ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules Caterina Berti Bianca Fontanella Rosa Ferrentino and Germana Meroni Telethon Institute of Genetics and Medicine (TIGEM), 80131 Naples, Italy BMC Cell Biology Published Abstract Background Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as hypertelorism, cleft palate, and hypospadias. The gene responsible for the X-linked form of this disease, , encodes a TRIM/RBCC protein that is anchored to the microtubules. The association of Mid1 with the cytoskeleton is regulated by dynamic phosphorylation, through the interaction with the 4 subunit of phosphatase 2A (PP2A). Mid1 acts as an E3 ubiquitin ligase, regulating PP2A degradation on microtubules.

63. Indian Pediatrics - Editorial SmithLemli-opitz syndrome. A 15-month-old child was brought for evaluation A diagnosis of Smith-Lemli-opitz syndrome was made based on the clinical and http://www.indianpediatrics.net/may2004/may-512.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2004; 41:512 Smith-Lemli-Opitz Syndrome A 15-month-old child was brought for evaluation of ambiguous genitalia and failure to thrive. He was irritable, underweight and short for age. He had hypopigmented hair, hypertonia, scissoring of lower limbs, asymmetrically short flexed fingers, micro-cephaly, narrow frontal area, slanting auricles, broad nasal tip, anteverted nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia (micropenis, hypo-spadias, cryptorchidism and a rudimentary vagina with a karyotype of 46XY) ( Fig. 1 ). The child had pyloroplasty for congenital hypertrophic pyloric stenosis at 28 days of age. An ultrasound examination of abdomen revealed left sided hydronephrosis, duplex collecting system, ureterocele and cystic dysplasia of upper calyceal system. His lipid profile revealed low serum cholesterol levels and absent LDL cholesterol. A diagnosis of Smith-Lemli-Opitz syndrome was made based on the clinical and biochemical profile. Fig. 1. A. Showing cleft palate and thickened alveolar ridges, B. showing

64. Arthrogryposis Multiplex Congenita Opitz trigonocephaly syndrome is possibly an autosomal recessive disorder. SmithLemli-opitz syndrome is characterized by microcephaly with a narrow http://pediatricneuro.com/alfonso/pg159.htm

MainMenu Back Next Index Arthrogryposis is especially prominent in the hands. Arthrogryposis also involves the hips and the knees. Central and peripheral nervous system abnormalities are present. Pathologic findings reported in these patients include neurogenic atrophic muscle changes, and spinal cord and cerebellar histological abnormalities. Pulmonary hypoplasia results from decreased diaphragmatic motility. Neonates with Pena-Shokeir I syndrome are premature or small for gestational age. Pena-Shokeir I syndrome has been considered an autosomal recessive condition but more likely represents a typical phenotype that occurs as a consequence of decreased fetal movements at a particular gestational age. Pena-Shokeir II Syndrome Opitz Trigonocephaly Syndrome Opitz trigonocephaly syndrome is characterized by trigonocephaly, upslanting palpebral fissures, hypoplastic nasal root, wide alveolar ridges, anomalous and posteriorly angulated ears, loose skin, heart anomaly, and arthrogryposis (distal). The head size is normal at birth but fails to grow postnatally. Mental retardation is constant. Opitz trigonocephaly syndrome is possibly an autosomal recessive disorder. Chromosomal anomalies (specially chromosome 3), Frydman trigonocephaly syndrome and Say-Meyer trigonocephaly syndrome need to be excluded.

65. Opitz Syndrome, Eastern Carolina opitz syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117882.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Opitz Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Opitz G/BBB Family Network International. Founded 1994. Support, encouragement, education, and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. Maintains database of members, literature, information, e-group, phone support, and newsletter. Referrals to other families. Family conferences. WRITE: Opitz Family Network P.O. Box 515 Grand Lake, CO 80447 CALL: 970-627-8935 FAX: 970-627-8818 E-MAIL: opitznet@mac.com WEBSITE: http://www.opitznet.org VERIFIED: 6/2/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

66. [Dysphagia] Re: Opitz Syndrome And Aspiration Of Saliva I don t know whether opitz syndrome is the child s actual=20 diagnosis. I willexplore this a bit with the mother as appropriate,=20 especially of they end http://list.dysphagia.com/dysphagia/2003-April/msg00170.html

Date Prev Date Next [Chronological] [Thread] ... [Top] [Dysphagia] Re: Opitz syndrome and aspiration of saliva Subject [Dysphagia] Re: Opitz syndrome and aspiration of saliva From SuzMorris@aol.com SuzMorris@aol.com Date: Mon, 14 Apr 2003 16:16:29 EDT Follow-Ups [Dysphagia] Re: Opitz syndrome and aspiration of saliva From: eripley@yahoo.com (Irene Campbell-Taylor) Prev by Date: [Dysphagia] Opitz syndrome Next by Date: [Dysphagia] Food Supplements That Provide Immune System Support Index(es): Chronological Thread

67. Disclaimer - Electronic Collection Increased awareness of Smith­Lemli­opitz syndrome is needed to identify affected Smith­Lemli­opitz syndrome (SLOS) appears to be the second most common http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cmaj/vol-161/is

You are viewing a document archived by Library and Archives Canada. Please note, information may be out of date and some functionality lost. You will be redirected in 15 seconds or follow this link to continue to the document For more information see the Electronic Collection's Web site. Vous visualisez un document archivé par Bibliothèque et Archives Canada. Veuillez noter que l’information peut être périmée et que certaines fonctions peuvent être inactives. Vous serez redirigé dans 15 secondes ou suivez ce lien pour voir le document Pour plus de renseignements veuillez consulter le site Web de la Collection électronique Last Updated: 2005-04-12 Important Notices Avis importants

68. Smith-Lemli-Opitz Syndrome SmithLemli-opitz syndrome a treatable inherited error of metabolism causingmental retardation Smith-Lemli-opitz syndrome Smith-Lemli-opitz syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=276

69. CMAJ -- Please Take Our Questionnaire Increased awareness of SmithLemli-opitz syndrome is needed to identify affected Smith-Lemli-opitz syndrome (SLOS) appears to be the second most common http://www.cmaj.ca/cgi/content/full/161/2/165

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70. Maternal Serum Unconjugated Estriol As A Predictor For Smith-Lemli-Opitz Syndrom Two cases of Smith–Lemli–opitz syndrome were identified and the patients did notsurvive the neonatal period; one was a therapeutic abortion for severe http://www.greenjournal.org/cgi/content/abstract/102/1/167

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Schoen, E. Articles by To, T. T. ORIGINAL RESEARCH Edgar Schoen, MD Carol Norem, MS Robyn Krieger, MS David Walton, MD and Trinh T. To From the Regional Perinatal Screening Program and Departments of Genetics and Perinatology, Kaiser Permanente Medical Center, Oakland, California. Address reprint requests to: Edgar J. Schoen, MD, Department of Genetics, Kaiser Permanente Medical Center, 280 West MacArthur Boulevard, Oakland, CA 94611-5693; E-mail: OBJECTIVE: To assess the clinical value of low maternal serum syndrome and other fetal clinical conditions in pregnant members of a large health maintenance organization. METHODS: We studied serum unconjugated E3 levels in 120,071

71. Obstetrics & Gynecology -- Sign In Page Two cases of Smith–Lemli–opitz syndrome were identified and the patients did not Smith–Lemli–opitz syndrome is an inborn error of cholesterol metabolism http://www.greenjournal.org/cgi/content/full/102/1/167

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72. Center For Genetic Disorders Of Cognition And Behavior Smith Currently, therapy is based on dietary cholesterol supplementation. Research ProjectsInvestigation of Simvastatin Therapy in SmithLemli-opitz syndrome http://gcbcenter.kennedykrieger.org/slos.jsp

73. Center For Genetic Disorders Of Cognition And Behavior Smith SmithLemli-Opitz-Syndrome Family Resources Smith-Lemli-opitz syndrome Advocacy and Opitz JM (1994). RSH/SLO ( Smith-Lemli-Opitz ) syndrome historical, http://gcbcenter.kennedykrieger.org/slos_inre.jsp

74. WebMD With AOL Health - Smith Lemli Opitz Syndrome Smith Lemli - opitz syndrome is a hereditary developmental disorder. It ischaracterized by nostrils that http://aolsvc.health.webmd.aol.com/hw/raising_a_family/nord292.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... For a Complete Report Smith Lemli Opitz Syndrome Important It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms RSH Syndrome Smith-Opitz-Inborn Syndrome Disorder Subdivisions None General Discussion Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature. Resources Smith-Lemli-Opitz/RSH Advocacy and Exchange 2650 Valley Forge Drive Boothwyn, PA 19061 Tel: (610)485-9663 Email: bhook@erols.com Internet: http://www.members.aol.com/slo97/index.html The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910

75. WebMD With AOL Health - Opitz Syndrome International. Founded 1994. Support, encouragement, education, and sharing ofsuccesses and ideas for http://aolsvc.health.webmd.aol.com/hw/health_guide_atoz/shc29opi.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... Opitz G/BBB Family Network Opitz Syndrome Opitz G/BBB Family Network International. Founded 1994. Support, encouragement, education, and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. Maintains database of members, literature, information, e-group, phone support, and newsletter. Referrals to other families. Family conferences. WRITE: Opitz Family Network P.O. Box 515 Grand Lake, CO 80447 CALL: 970-627-8935 FAX: 970-627-8818 E-MAIL: opitznet@mac.com WEBSITE: http://www.opitznet.org VERIFIED: 5/6/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

76. Entrez PubMed opitz syndrome (OS, McKusick 145410) is a well described genetic syndrome affectingmultiple organ systems whose cardinal manifestations include widely http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7

77. OMIM - OPITZ SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300000

78. *300000 OPITZ SYNDROME *300001 ICHTHYOSIS, X-LINKED, WITHOUT *300000 opitz syndrome *300001 ICHTHYOSIS, XLINKED, WITHOUT STEROID SULFATASEDEFICIENCY *300002 ARYLSULFATASE D; ARSD *300003 ARYLSULFATASE F; http://linkage.rockefeller.edu/wli/omim/x.txt

*300000 : OPITZ SYNDROME *300001 : ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY *300002 : ARYLSULFATASE D; ARSD *300003 : ARYLSULFATASE F; ARSF *300005 : METHYL-CpG-BINDING PROTEIN 2; MECP2 *300006 : CALTRACTIN; CALT *300007 : INTERLEUKIN 9 RECEPTOR; IL9R *300008 : CHLORIDE CHANNEL 5; CLCN5 *300010 : A-11 GENE; A11 *300011 : ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A *300012 : SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1; SMARCA1 *300013 : N-ACETYLTRANSFERASE ARD1, S. CEREVISIAE, HOMOLOG OF; DXS707 *300014 : ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3 *300015 : ACETYLSEROTONIN METHYLTRANSFERASE, X-CHROMOSOMAL; ASMT *300016 : MELANOMA ANTIGEN, FAMILY A, 1; MAGEA1 *300017 : FILAMIN A, ALPHA; FLNA *300019 : HOST CELL FACTOR C1; HCFC1 *300020 : ACTIN-LIKE SEQUENCE 1; ACTL1 *300021 : SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE *300022 : PLEXIN 4; PLXN4 *300023 : RHO-GAP HEMATOPOIETIC PROTEIN C1 *300024 : ZINC FINGER PROTEIN 157; ZNF157 *300025 : CAUDAL-TYPE HOMEO BOX TRANSCRIPTION FACTOR 4; CDX4 *300026 : NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 2; NAP1L2 *300027 : RNA-BINDING MOTIF PROTEIN 3; RBM3 *300028 : U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 2 *300029 : RETINITIS PIGMENTOSA 15; RP15 *300030 : DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4 *300031 : FRAGILE SITE F, X-LINKED; FRAXF *300032 : ATR-X GENE; ATRX *300033 : MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7 *300034 : ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2 *300035 : EPHRIN B1; EFNB1 *300036 : SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8 *300037 : GLYPICAN 3; GPC3 *300038 : PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4; P2RY4 *300039 : POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4 *300040 : SEGREGATION OF MITOTIC CHROMOSOMES, 1; SMC1 *300041 : GUANYLYL CYCLASE 2F, RETINAL; GUCY2F *300043 : HEPATOMA-DERIVED GROWTH FACTOR; HDGF *300044 : TRANSKETOLASE-LIKE 1; TKTL1 *300046 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, 23; MRX23 *300047 : MENTAL RETARDATION, X-LINKED 20; MRX20 *300048 : INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED *300050 : UBIQUITIN-SPECIFIC PROTEASE 11; USP11 *300051 : GLYCOPROTEIN M6B; GPM6B *300052 : DYSTROPHIN-RELATED PROTEIN 2; DRP2 *300053 : SYNAPTOBREVIN-LIKE 1; SYBL1 *300056 : HOLOCYTOCHROME C SYNTHASE; HCCS *300059 : DXS9878E *300060 : DXS9879E *300061 : MENTAL RETARDATION, X-LINKED; DXS6673E *300065 : FSH PRIMARY RESPONSE, RAT, HOMOLOG 1; FSHPRH1 *300066 : DEAFNESS, X-LINKED 6, PROGRESSIVE; DFN6 *300070 : FIBROBLAST GROWTH FACTOR 13; FGF13 *300072 : UBIQUITIN-SPECIFIC PROTEASE 9, X CHROMOSOME; USP9X *300075 : RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3 *300076 : IMMUNONEUROLOGIC DISORDER, X-LINKED *300077 : MENTAL RETARDATION, X-LINKED 29; MRX29 *300078 : NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1 *300079 : APOPTOSIS INHIBITOR 3; API3 *300080 : RNA-BINDING PROTEIN S1-1, RAT, HOMOLOG OF *300081 : DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1 *300082 : COGNITIVE FUNCTION 1, SOCIAL; CGF1 *300083 : PROTEIN KINASE, X-LINKED; PRKX *300084 : NUCLEAR RNA-BINDING PROTEIN, 54-KD *300085 : CONE DYSTROPHY, X-LINKED, 2; COD2 *300086 : G PROTEIN-COUPLED RECEPTOR 23; GPR23 *300088 : EPILEPSY, FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR *300089 : ISOCITRATE DEHYDROGENASE 3 (NAD+), GAMMA; IDH3G *300090 : SIGNAL SEQUENCE RECEPTOR, DELTA; SSR4 *300091 : FOS-INDUCED GROWTH FACTOR; FIGF *300092 : CHROMOSOME X OPEN READING FRAME 2; CXORF2 *300093 : GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPSILON; GABRE *300094 : PROTEIN KINASE C, IOTA FORM; PRKCI *300095 : SOLUTE CARRIER FAMILY 16, MEMBER 2; SLC16A2 *300096 : TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2 *300097 : MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1 *300098 : MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2 *300100 : ADRENOLEUKODYSTROPHY; ALD *300101 : BONE MARROW KINASE, X-LINKED; BMX *300102 : GS2 GENE; DXS1283E *300103 : APICAL PROTEIN, XENOPUS LAEVIS-LIKE; APXL *300104 : GDP DISSOCIATION INHIBITOR 1; GDI1 *300105 : SPERMINE SYNTHASE; SMS *300107 : BOMBESIN-LIKE RECEPTOR 3; BRS3 *300108 : DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2 *300109 : PROTEIN PHOSPHATASE, EF HAND CALCIUM-BINDING DOMAIN 1; PPEF1 *300110 : CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA 1F SUBUNIT; CACNA1F *300111 : LIM DOMAIN ONLY 6; LMO6 *300112 : DIFFERENTIATION-DEPENDENT PROTEIN A4 *300113 : X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1; XLRL *300114 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 49; MRX49 *300115 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 50; MRX50 *300116 : MATURE T-CELL PROLIFERATION 1; MTCP1 *300117 : NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 3; NAP1L3 *300118 : GTPase-ACTIVATING PROTEIN, RHO, 6; ARHGAP6 *300119 : INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1 *300120 : F18 GENE *300121 : DOUBLECORTIN; DCX *300122 : FINGER ON X AND Y *300123 : MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY; MRGH *300124 : PSEUDOAUTOSOMAL GTP-BINDING PROTEIN-LIKE *300125 : MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO *300126 : DYSKERIN; DKC1 *300127 : OLIGOPHRENIN 1; OPHN1 *300128 : UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME; UTX *300130 : INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2 *300131 : PLASTIN 3; PLS3 *300132 : TROPHININ; TRO *300133 : VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1 *300134 : DUAL-SPECIFICITY PHOSPHATASE 9; DUSP9 *300135 : ATP-BINDING CASSETTE 7; ABC7 *300136 : DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO *300137 : IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1 *300138 : CHLORIDE INTRACELLULAR CHANNEL 2; CLIC2 *300139 : IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1 *300140 : EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-4; EEF1B4 *300141 : PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C *300142 : p21-ACTIVATED KINASE 3; PAK3 *300143 : MENTAL RETARDATION, X-LINKED, 21; MRX21 *300144 : GLUTAMATE DEHYDROGENASE 2 *300145 : X-PROLYL AMINOPEPTIDASE 2; XPNPEP2 *300146 : CALPAIN 6; CAPN6 *300147 : PROSTATE CANCER, HEREDITARY, X-LINKED; HPCX *300149 : CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 1; CITED1 *300150 : ADENINE NUCLEOTIDE TRANSLOCATOR 2; ANT2 *300151 : ADENINE NUCLEOTIDE TRANSLOCATOR 3; ANT3 *300152 : MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3 *300153 : MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4 *300155 : RETINITIS PIGMENTOSA 24; RP24 *300156 : CANCER/TESTIS ANTIGEN; CTAG *300157 : FATTY ACID COENZYME A LIGASE, LONG-CHAIN 4; FACL4 *300158 : ARTHROGRYPOSIS, X-LINKED, TYPE V; AMCX5 *300159 : THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X *300160 : DEAD/H BOX 3, X-LINKED; DDX3 *300161 : EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3 *300162 : ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL *300163 : FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 *300164 : INACTIVATION ESCAPE 1; INE1 *300165 : INACTIVATION ESCAPE 2; INE2 *300167 : HEPHAESTIN *300168 : GLYPICAN 4; GPC4 *300169 : PROGRAMMED CELL DEATH 8; PDCD8 *300170 : CHROMOSOME X OPEN READING FRAME 5; CXORF5 *300171 : MYOTUBULARIN-RELATED PROTEIN 1; MTMR1 *300172 : CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK *300173 : MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2 *300174 : MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3 *300175 : MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4 *300176 : MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6 *300177 : MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12 *300178 : TRANSPOSASE *300179 : X INACTIVATION, FAMILIAL SKEWED, 2 *300180 : ARYLSULFATASE E; ARSE *300181 : X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE *300182 : CHROMOSOME X OPEN READING FRAME 4; CXORF4 *300185 : A-KINASE ANCHOR PROTEIN, 82-KD *300186 : EUKARYOTIC TRANSLATION INITIATION FACTOR 1A; EIF1A *300187 : SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX *300188 : THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT *300189 : DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3 *300190 : SH3-BINDING DOMAIN GLUTAMIC ACID-RICH PROTEIN-LIKE; SH3BGRL *300191 : TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 6; TM4SF6 *300192 : SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2 *300193 : HIGH MOBILITY GROUP PROTEIN 4; HMG4 *300195 : ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS CHROMOSOMAL REGION GENE 1; AMMECR1 *300196 : TRANSDUCIN-BETA-LIKE 1; TBL1 *300197 : ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT 1; ATP6S1 *300198 : GLYCOGENIN 2; GYG2 *300199 : RNA-BINDING MOTIF PROTEIN, X CHROMOSOME *300200 : ADRENAL HYPOPLASIA, CONGENITAL; AHC *300201 : CYSTEINYL LEUKOTRIENE RECEPTOR 1 *300202 : SEDLIN; SEDL *300250 : ADRENAL UNRESPONSIVENESS TO ACTH *300300 : BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK *300310 : AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2; XLA2 *300500 : ALBINISM, OCULAR, TYPE 1; OA1 *300600 : ALBINISM, OCULAR, TYPE II; OA2 *300700 : ALBINISM-DEAFNESS SYNDROME; ADFN *301000 : WISKOTT-ALDRICH SYNDROME; WAS *301100 : AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE; AIH *301200 : AMELOGENESIS IMPERFECTA 1, HYPOPLASTIC TYPE; AIH1 *301201 : AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; AIH3 *301220 : AMYLOIDOSIS, FAMILIAL CUTANEOUS *301300 : ANEMIA, HYPOCHROMIC *301500 : ANGIOKERATOMA, DIFFUSE *301770 : ARRESTIN 3, RETINAL; ARR3 *301780 : ARYLSULFATASE C, ISOZYME F; ARSC2 *301830 : ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED *301835 : ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION *301845 : BAZEX SYNDROME; BZX *301870 : BIGLYCAN; BGN *301900 : BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS *302000 : BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE *302020 : CALBINDIN 3; CALB3 *302060 : BARTH SYNDROME; BTHS *302200 : CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT *302350 : CATARACT-DENTAL SYNDROME *302500 : CEREBELLAR ATAXIA, X-LINKED; CLA2 *302600 : CEREBELLAR ATAXIA WITH EXTRAPYRAMIDAL INVOLVEMENT *302650 : CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1 *302801 : CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2; CMTX2 *302802 : CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3; CMTX3 *302910 : CHLORIDE CHANNEL 4; CLCN4 *302920 : CHOLESTEROL REPRESSIBLE PROTEIN 39C; CHR39C *303100 : CHOROIDEREMIA; CHM *303400 : CLEFT PALATE, X-LINKED; CPX *303630 : COLLAGEN, TYPE IV, ALPHA-5; COL4A5 *303631 : COLLAGEN, TYPE IV, ALPHA-6; COL4A6 *303700 : COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM *303800 : COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD *303900 : COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP *304020 : CONE DYSTROPHY, X-LINKED, 1; COD1 *304040 : GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1 *304050 : CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY *304100 : CORPUS CALLOSUM, PARTIAL AGENESIS OF *304110 : CRANIOFRONTONASAL SYNDROME; CFNS *304340 : DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES *304500 : DEAFNESS, X-LINKED 2, PERCEPTIVE CONGENITAL; DFN2 *304590 : DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED *304700 : DEAFNESS, X-LINKED 1, PROGRESSIVE; DFN1 *304730 : DERMOIDS OF CORNEA; CND *304800 : DIABETES INSIPIDUS, NEPHROGENIC *304900 : DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE *305100 : ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 *305200 : EHLERS-DANLOS SYNDROME, TYPE V *305360 : MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1 *305370 : TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1 *305371 : GATA-BINDING PROTEIN 1; GATA1 *305400 : FACIOGENITAL DYSPLASIA; FGD1 *305423 : FACTOR VIII ASSOCIATED GENE 1; F8A *305424 : FACTOR VIII ASSOCIATED GENE 2 *305435 : F-CELL PRODUCTION 1; FCP1 *305450 : FG SYNDROME; FGS1 *305600 : FOCAL DERMAL HYPOPLASIA; DHOF *305620 : FRONTOMETAPHYSEAL DYSPLASIA *305660 : GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3 *305670 : GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR *305900 : GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD *305915 : GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3 *305990 : GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2 *306000 : GLYCOGEN STORAGE DISEASE VIII *306100 : GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY *306250 : COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA *306400 : GRANULOMATOUS DISEASE, CHRONIC; CGD *306480 : DXF68S1E *306600 : HEMOLYSIS OF TRYPSIN-TREATED RED CELLS *306700 : HEMOPHILIA A *306900 : HEMOPHILIA B; HEMB *306955 : HETEROTAXY, VISCERAL, X-LINKED *307030 : HYPERGLYCEROLEMIA *307150 : HYPERTRICHOSIS, CONGENITAL GENERALIZED; CGH; HCG *307200 : HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED *307700 : HYPOPARATHYROIDISM, X-LINKED; HYPX *307800 : HYPOPHOSPHATEMIA, VITAMIN D-RESISTANT RICKETS *308000 : HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 *308100 : ICHTHYOSIS, X-LINKED *308230 : IMMUNODEFICIENCY WITH INCREASED IgM *308240 : LYMPHOPROLIFERATIVE SYNDROME *308250 : IMMUNOGLOBULIN M, LEVEL OF *308310 : INCONTINENTIA PIGMENTI, TYPE II; IP2 *308350 : INFANTILE SPASM SYNDROME, X-LINKED *308380 : INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG *308385 : INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA *308700 : KALLMANN SYNDROME 1; KAL1 *308800 : KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI; KFSD *308840 : L1 CELL ADHESION MOLECULE; L1CAM *309000 : LOWE OCULOCEREBRORENAL SYNDROME; OCRL *309050 : LUTHERAN SUPPRESSOR, X-LINKED; XS *309060 : LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2 *309100 : MACULAR DYSTROPHY, X-LINKED *309150 : MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD *309200 : MAJOR AFFECTIVE DISORDER 2; MAFD2 *309300 : MEGALOCORNEA; MGC1 *309470 : SUTHERLAND-HAAN SYNDROME; SHS *309500 : RENPENNING SYNDROME 1; RENS1 *309510 : PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS *309520 : MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS *309530 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1 *309545 : MENTAL RETARDATION, X-LINKED NONSPECIFIC, WITH APHASIA; MRXA *309548 : FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); FRAXE *309550 : FRAGILE SITE MENTAL RETARDATION 1; FMR1 *309555 : MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES *309583 : MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE *309585 : MENTAL RETARDATION, X-LINKED, SYNDROMIC 6, WITH GYNECOMASTIA AND OBESITY; MRXS6 *309600 : MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA *309605 : MENTAL RETARDATION, X-LINKED, SYNDROMIC 4, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES; MRXS4 *309610 : MENTAL RETARDATION, X-LINKED, SYNDROMIC 2, WITH DYSMORPHISM AND CEREBRAL ATROPHY; MRXS2 *309620 : MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD *309630 : METACARPAL 4-5 FUSION; MF4 *309800 : MICROPHTHALMIA OR ANOPHTHALMOS, WITH ASSOCIATED ANOMALIES; MAA *309801 : MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS *309845 : MOESIN; MSN *309850 : MONOAMINE OXIDASE A; MAOA *309860 : MONOAMINE OXIDASE B; MAOB *309900 : MUCOPOLYSACCHARIDOSIS TYPE II *310200 : MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES *310300 : EMERY-DREIFUSS MUSCULAR DYSTROPHY *310310 : MYCL-RELATED PROCESSED GENE; MYCL2 *310400 : MYOTUBULAR MYOPATHY 1; MTM1 *310440 : MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX *310460 : MYOPIA 1; MYP1 *310490 : NEUROPATHY, MOTOR-SENSORY, TYPE II, WITH DEAFNESS AND MENTAL RETARDATION *310500 : NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1; CSNB1 *310600 : NORRIE DISEASE; NDP *310700 : NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 *311000 : OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM *311010 : V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1; ARAF1 *311030 : MCF.2 CELL LINE DERIVED TRANSFORMING SEQUENCE; MCF2 *311040 : ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1 *311050 : OPTIC ATROPHY 2; OPA2 *311200 : OROFACIODIGITAL SYNDROME 1; OFD1 *311240 : ORNITHINE AMINOTRANSFERASE-LIKE 1; OATL1 *311241 : ORNITHINE AMINOTRANSFERASE-LIKE 2; OATL2 *311250 : ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC *311300 : OTOPALATODIGITAL SYNDROME *311510 : PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION *311550 : PCTAIRE PROTEIN KINASE 1; PCTK1 *311770 : PHOSPHATIDYLINOSITOL GLYCAN, CLASS A; PIGA *311790 : 6-@PHOSPHOFRUCTO-2-KINASE; PFKFB1 *311800 : PHOSPHOGLYCERATE KINASE 1; PGK1 *311850 : PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1 *311860 : PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2 *311870 : PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1 *312000 : PANHYPOPITUITARISM; PHP *312040 : POLYMERASE, DNA, ALPHA; POLA *312060 : PROPERDIN DEFICIENCY, X-LINKED *312070 : PROTEIN GDX *312080 : PROTEOLIPID PROTEIN, MYELIN; PLP *312090 : PROTEIN P3 *312095 : PSEUDOAUTOSOMAL GENE XE7 *312170 : PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1 *312173 : QM GENE *312180 : UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A *312390 : RENAL CELL CARCINOMA, PAPILLARY, X-LINKED *312420 : RENIN-BINDING PROTEIN; RENBP *312500 : RETICULOENDOTHELIOSIS, X-LINKED *312600 : RETINITIS PIGMENTOSA 2; RP2 *312610 : RETINITIS PIGMENTOSA 3; RP3 *312700 : RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 *312760 : RIBOSOMAL PROTEIN S4, X-LINKED; RPS4X *312820 : SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1 *312861 : 5-@HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C *312865 : SHORT STATURE; SS *313020 : SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE; SAT *313350 : SPLIT-HAND/FOOT MALFORMATION, TYPE 2; SHFM2 *313420 : SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED *313430 : SRY-BOX 3; SOX3 *313440 : SYNAPSIN I; SYN1 *313450 : SURFACE ANTIGEN, X-LINKED; SAX *313470 : SURFACE ANTIGEN MIC2; MIC2 *313475 : SYNAPTOPHYSIN; SYP *313480 : Taq I POLYMORPHISM; TAQ1 *313500 : TEETH, ABSENCE OF *313650 : TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A *313700 : ANDROGEN RECEPTOR; AR *313850 : THORACOABDOMINAL SYNDROME; THAS *314050 : THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS *314200 : THYROXINE-BINDING GLOBULIN OF SERUM; TBG *314250 : DYSTONIA 3, TORSION, X-LINKED; DYT3 *314300 : TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR *314310 : TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3 *314370 : UBIQUITIN-ACTIVATING ENZYME 1; UBE1 *314375 : UDP-GALACTOSE TRANSLOCATOR; UGALT *314380 : UNIQUE GREEN PHENOMENON *314390 : VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED *314400 : CARDIAC VALVULAR DYSPLASIA, X-LINKED *314500 : VAN DEN BOSCH SYNDROME *314555 : VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1 *314580 : WIEACKER SYNDROME *314670 : X INACTIVATION-SPECIFIC TRANSCRIPT; XIST *314690 : SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX *314700 : XG BLOOD GROUP SYSTEM; XG; PBDX *314705 : XG REGULATOR; XGR *314850 : KELL BLOOD GROUP PRECURSOR; XK *314900 : XM SYSTEM *314980 : ZINC FINGER PROTEIN, X-LINKED; ZFX *314990 : ZINC FINGER PROTEIN 6; ZNF6 *314993 : ZINC FINGER PROTEIN 21; ZNF21 *314995 : ZINC FINGER PROTEIN 41; ZNF41 *314997 : ZINC FINGER PROTEIN 75; ZNF75 *314998 : ZINC FINGER PROTEIN 81; ZNF81

79. Smith-Lemli-Opitz Syndrome - Patient UK SmithLemli-opitz syndrome - Patient UK. A directory of UK health, disease,illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40024926/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Smith-Lemli-Opitz Syndrome SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome The syndrome was first described by Smith, Lemli and Opitz in 1964 . The name RSH syndrome is derived from the initials of the first 3 patients to be described. It is an inherited disorder caused by mutations in the sterol delta-7-reductase gene, which maps to 11q12-q13. It is the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol (7DHC) to cholesterol. Distinction was often made between a classical "type I" disorder and a more severe "type II" disorder but in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe. The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor made this the first true metabolic syndrome of multiple congenital malformations. The enzyme defect produces low plasma cholesterol and reduced myelination in the cerebral hemispheres, cranial nerves, and peripheral nerves. Epidemiology Incidence It occurs in relatively high frequency with approximately 1 in 20,000 to 30,000 births in populations of northern and central European background.

80. Smith Lemli Opitz Syndrome Prev Term smell Next Term Smith Magenis syndrome. Smith Lemli opitz syndrome.Used for. SmithOpitz-Inborn syndrome http://crisp.cit.nih.gov/Thesaurus/00020359.htm

Prev Term: smell Next Term: Smith Magenis syndrome Smith Lemli Opitz syndrome Used for: Smith-Opitz-Inborn syndrome See for: RSH Syndrome Broader Terms: congenital disorder Broader Terms: inborn lipid /lipoprotein disorder Broader Terms: syndrome Related Terms: autosomal recessive trait Related Terms: mental retardation Scope Note: autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities; the biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. Term Number: Send your comments to: Melody Lowe

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