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Psykisk Utviklingshemming Og Forsinket Utvikling

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Psykisk utviklingshemming og forsinket utvikling Genpanel, versjon v03 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere. Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 99% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL 92 NM_000018.3 100% VLCAD deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ACAN 319 NM_013227.3 84% ?Spondyloepimetaphyseal dysplasia, aggrecan type OMIM Osteochondritis dissecans, short stature, and early-onset osteoarthritis OMIM Spondyloepiphyseal dysplasia, Kimberley type OMIM ACAT1 93 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM ACO2 118 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM ACOX1 119 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM ACP5 124 NM_001111035.2 100% Spondyloenchondrodysplasia with immune dysregulation OMIM ACSL4 3571 NM_004458.2 99% Mental retardation, X-linked 63 OMIM ACTA1 129 NM_001100.3 100% Myopathy, actin, congenital, with cores OMIM Myopathy, actin, congenital, with excess of thin myofilaments OMIM Myopathy, congenital, with fiber-type disproportion 1 OMIM Nemaline myopathy 3, autosomal dominant or recessive OMIM ACTA2 130 NM_001613.2 100% Aortic aneurysm, familial thoracic 6 OMIM Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM ACTB 132 NM_001101.3 99% Baraitser-Winter syndrome 1 OMIM ACTG1 144 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM ACVR1 171 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM ACVR2B 174 NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM ACY1 177 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADA 186 NM_000022.3 100% Adenosine deaminase deficiency, partial OMIM Severe combined immunodeficiency due to ADA deficiency OMIM ADAR 225 NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ADCK3 16812 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM ADK 257 NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP 15766 NM_015339.4 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B 282 NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL 291 NM_000026.3 100% Adenylosuccinase deficiency OMIM AFF2 3776 NM_002025.3 99% Mental retardation, X-linked, FRAXE type OMIM AFF3 6473 NM_002285.2 98% Skeletal dysplasia with severe neurologic disease AFF4 17869 NM_014423.3 100% CHOPS syndrome OMIM AFG3L2 315 NM_006796.2 96% Spinocerebellar ataxia 28 OMIM Spastic ataxia 5, autosomal recessive OMIM AGA 318 NM_000027.3 100% Aspartylglucosaminuria OMIM AGK 21869 NM_018238.3 100% Cataract 38, autosomal recessive OMIM Sengers syndrome OMIM AGL 321 NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM AGPS 327 NM_003659.3 99% Rhizomelic chondrodysplasia punctata, type 3 OMIM AGXT 341 NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM AHDC1 25230 NM_001029882.3 99% Xia-Gibbs syndrome OMIM AHI1 21575 NM_017651.4 100% Joubert syndrome 3 OMIM AIFM1 8768 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 10648 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AIPL1 359 NM_014336.4 100% Cone-rod dystrophy OMIM Leber congenital amaurosis 4 OMIM Retinitis pigmentosa, juvenile OMIM AIRE 360 NM_000383.3 100% Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia OMIM AK2 362 NM_001625.3 100% Reticular dysgenesis OMIM AKR1D1 388 NM_005989.3 99% Bile acid synthesis defect, congenital, 2 OMIM AKT1 391 NM_005163.2 99% Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM AKT3 393 NM_005465.4 99% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 2 OMIM ALAD 395 NM_000031.5 100% Porphyria, acute hepatic OMIM ALDH18A1 9722 NM_002860.3 100% Cutis laxa, autosomal dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH1A3 409 NM_000693.3 100% Microphthalmia, isolated 8 OMIM ALDH3A2 403 NM_000382.2 100% Sjogren-Larsson syndrome OMIM ALDH4A1 406 NM_003748.3 100% Hyperprolinemia, type II OMIM ALDH5A1 408 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 877 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM ALDOA 414 NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB 417 NM_000035.3 100% Fructose intolerance, hereditary OMIM ALG1 18294 NM_019109.4 55% Congenital disorder of glycosylation, type Ik OMIM ALG11 32456 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ALG12 19358 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM ALG13 30881 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM ALG2 23159 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 23056 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM ALG6 23157 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM ALG8 23161 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 15672 NM_024740.2 99% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM ALMS1 428 NM_015120.4 99% Alstrom syndrome OMIM ALPL 438 NM_000478.5 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALS2 443 NM_020919.3 100% Amyotrophic lateral sclerosis 2, juvenile OMIM Primary lateral sclerosis, juvenile OMIM Spastic paralysis, infantile onset ascending OMIM ALX1 1494 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 449 NM_006492.2 92% Frontonasal dysplasia 1 OMIM ALX4 450 NM_021926.3 99% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM AMER1 26837 NM_152424.3 99% Osteopathia striata with cranial sclerosis OMIM AMPD2 469 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM AMT 473 NM_000481.3 100% Glycine encephalopathy OMIM ANKH 15492 NM_054027.4 100% Chondrocalcinosis 2 OMIM Craniometaphyseal dysplasia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ANKRD11 21316 NM_013275.5 97% KBG syndrome OMIM ANKRD26 29186 NM_014915.2 98% Thrombocytopenia 2 OMIM ANO5 27337 NM_213599.2 100% Gnathodiaphyseal dysplasia OMIM Miyoshi muscular dystrophy 3 OMIM Muscular dystrophy, limb-girdle, type 2L OMIM ANTXR1 21014 NM_032208.2 98% GAPO syndrome OMIM AP1S2 560 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM AP3B2 567 NM_004644.4 99% Epileptic encephalopathy, early infantile, 48 OMIM AP4B1 572 NM_006594.4 100% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 573 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM Stuttering, familial persistent, 1 OMIM AP4M1 574 NM_004722.3 100% Spastic paraplegia 50, autosomal recessive OMIM AP4S1 575 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM APOA1BP 18453 NM_144772.2 100% Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM APOPT1 20492 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM APTX 15984 NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM AR 644 NM_000044.4 98% Androgen insensitivity OMIM Androgen insensitivity, partial, with or without breast cancer OMIM Hypospadias 1, X-linked OMIM Spinal and bulbar muscular atrophy of Kennedy OMIM ARCN1 649 NM_001655.4 100% Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM ARFGEF2 15853 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM ARG1 663 NM_000045.3 100% Argininemia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ARHGAP31 29216 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM ARHGEF6 685 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 14561 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A 11110 NM_006015.4 98% Coffin-Siris syndrome 2 OMIM ARID1B 18040 NM_020732.3 99% Coffin-Siris syndrome 1 OMIM ARID2 18037 NM_152641.3 99% ARID2-Coffin-Siris Like Disorder ARL6 13210 NM_177976.3 100%
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  • Opsoclonus-Myoclonus Syndrome

    Opsoclonus-Myoclonus Syndrome

    OMS Opsoclonus-Myoclonus Syndrome REGISTRY POWERED BY NORD 10 11 Tr io Health © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. Tr io Health Meet OMS Warrior ALEXA What is OMS? OPSOCLONUS-MYOCLONUS SYNDROME General Discussion Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often occurring as a paraneoplastic syndrome with neurological symptoms being the first sign of an occult tumor. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is oftentimes abrupt and can be relatively severe, with the potential to become chronic unless the appropriate diagnosis and treatment are reached in a timely manner. Signs and Symptoms The component features of OMS include the presence of rapid, seemingly random eye movements in the horizontal, vertical, and diagonal directions (opsoclonus); an unsteady gait or inability to walk or stand (ataxia); and brief, repetitive, shock-like muscle spasms or tremors within the arms, legs, or hands interfering with normal use (myoclonus). Behavioral and sleep disturbances, including extreme irritability, inconsolable crying, reduced or fragmented sleep (insomnia), and rage attacks are common. Difficulty articulating speech (dysarthria), sometimes with complete loss of speech and language, may occur. Additional symptoms, such as decreased muscle tone (hypotonia) and vomiting, have also been noted. Causes The most common cause of OMS in young children is an occult (ie, a small, often hidden) tumor. The symptoms of OMS, as a paraneoplastic syndrome, presumably stem from the immune system attacking the tumor, leading to secondary inflammatory effects on the central nervous system.
  • Saethre-Chotzen Syndrome

    Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome Authors: Professor L. Clauser1 and Doctor M. Galié Creation Date: June 2002 Update: July 2004 Scientific Editor: Professor Raoul CM. Hennekam 1Department of craniomaxillofacial surgery, St. Anna Hospital and University, Corso Giovecca, 203, 44100 Ferrara, Italy. [email protected] Abstract Keywords Disease name and synonyms Excluded diseases Definition Prevalence Management including treatment Etiology Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Saethre-Chotzen Syndrome (SCS) is an inherited craniosynostotic condition, with both premature fusion of cranial sutures (craniostenosis) and limb abnormalities. The most common clinical features, present in more than a third of patients, consist of coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. The estimated birth incidence is 1/25,000 to 1/50,000 but because the phenotype can be very mild, the entity is likely to be underdiagnosed. SCS is inherited as an autosomal dominant trait with a high penetrance and variable expression. The TWIST gene located at chromosome 7p21-p22, is responsible for SCS and encodes a transcription factor regulating head mesenchyme cell development during cranial tube formation. Some patients with an overlapping SCS phenotype have mutations in the FGFR3 (fibroblast growth factor receptor 3) gene; especially the Pro250Arg mutation in FGFR3 (Muenke syndrome) can resemble SCS to a great extent. Significant intrafamilial
  • Genetics of Congenital Hand Anomalies

    Genetics of Congenital Hand Anomalies

    G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights.