1p31p32 microdeletion syndrome
2p15p16.1 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
15q11q13 microduplication syndrome
16p11.2p12.2 microduplication syndrome
16p13.11 microduplication syndrome
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
19p13.3 microduplication syndrome
20q13.33 microdeletion syndrome
Absent thumb-short stature-immunodeficiency syndrome
Acetazolamide-responsive myotonia
ADNP‑related multiple congenital anomalies‑intellectual disability-autism spectrum disorder
Adult nevronal ceroid lipofuscinose
Adult‑onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Akromesomelisk dysplasi, Grebe Type
Akromesomelisk dysplasi, Hunter-Thompson type
Akromesomelisk dysplasi, Maroteaux type
Akutt intermitterende porfyri (AIP)
Albrights hereditære osteodystrofi
Alpha delta granule deficiency
Alpha‑thalassemia‑intellectual disability syndrome linked to chromosome 16
Alpha‑thalassemia‑X‑linked intellectual disability syndrome
Alternating hemiplegia of childhood
Androgent insensitivitetssyndrom (AIS)
Angelman syndrome due to a point mutation
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Angioosteohypertrophic syndrom
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Annen spesifisert nevropati HNPP
Arthrogryposis multiplex congenita (AMC)
Arvelig autosomal spastisk parapleksi
Arvelig kardiomyopati ved LMN A-mutasjon C-gen
Arvelig sensorisk og autonomisk nevropati
ARX-related encephalopathy-brain malformation spectrum
Autism spectrum disorder due to AUTS2 deficiency
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Autoimmunt lymfoproliferativt syndom
Autoinflammatory syndrome with immune deficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant centronuclear myopati
Autosomal dominant cerebellar ataxia type I
Autosomal dominant Charcot-Marie- Tooth 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot‑Marie‑Tooth disease type 2A2
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant Emery-Dreifuss muskeldystrofi
Autosomal dominant intellectual disability‑craniofacial anomalies-cardiac defects syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant limb‑girdle muscular dystrophy type 1B
Autosomal dominant limb‑girdle muscular dystrophy type 1C
Autosomal dominant non‑syndromic intellectual disability
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 5A
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spondylocostal dysostose
Autosomal dominant thrombocytopenia with platelet secretion defect
Autosomal Limb girdle muskeldystrofi
Autosomal reccesiv cutis laxa type 1
Autosomal reccesiv cutis laxa type 2
Autosomal recessiv Charcot-Marie-Tooh type 2 med nevromyotoni
Autosomal recessiv Charcot-Marie-Tooth type 2
Autosomal recessiv cutis laxa type 3
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive centronuclear myopathy
Autosomal recessive limb‑girdle muscular dystrophy
Autosomal recessive non‑syndromic intellectual disability
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal spastic paraplegia type 30
B3GALT6-relatert spondylodysplastic EDS
B4GALT7-relatert spondylodysplastic EDS
Bacterial susceptibility due to TLR signaling pathway deficiency
Baraitzer-Winter cerebrofrontofacial syndrome
Beckwith‑Wiedemann syndrome due to 11p15 microdeletion
Beckwith‑Wiedemann syndrome due to 11p15 translocation/inversion
Beckwith‑Wiedemann syndrome due to CDKN1C mutation
Beckwith‑Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Benign Samaritan congenital myopathy
Beta-propeller protein-assosiert nevrodegenerasjon
Blepharophimosis-intellectual disability syndrome, SBBYS type
Borjeson-Forssman-Lehmann syndrom
Brachyolmi, autosomal dominant type
Cardiac-valvular Ehlers-Danlos' syndrom
Cartilage-hair hypoplasi (CHH)
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Central nervous system malformation
Cerebellar ataksi, recissivt autosomal
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooths sykdom type 1A
Charcot-Marie-Tooths sykdom type 2
Charcot-Marie-Tooths sykdom type 2A1
Charcot-Marie-Tooths sykdom type 2C
Charcot-Marie-Tooths sykdom type 4B3
Charcot-Marie-Tooths sykdom type X1
Charcot-Marie-Tooth sykdom type 1E
Charcot-Marie-Tooth sykdom type 2D
Charcot-Marie-Tooth sykdom type 2P
Charcot Marie Tooth type A (autosomal,ressesiv, intermediat
Charcot Marie Tooth type with hoarseness (axonal)
Charcot Marie Tooth type with neuropatic pain
Charcot‑Marie‑Tooth disease type 1
Charcot‑Marie‑Tooth disease type 4C
Charcot‑Marie‑Tooth sykdom type 1B
Charcot‑Marie‑Tooth sykdom type 1C
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset nemaline myopathy
Chronic mucocutaneous candidiasis
Classic maple syrup urine disease
COASY-protein-assosiert nevrodegenerasjon
COL4A1 or COL4A2-related cerebral small vessel disease
Combined immunodeficiency-enteropathy spectrum
Combined immunodeficiency due to CD3gamma deficiency
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to IL21R deficiency
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to RELA haploinsufficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency with granulomatosis
Combined T and B cell immunodeficiency
COMP-MED (multippel epifyseal dysplasi type 1)
Complex hereditary spastic paraplegia
Congenital contractural arachnodactyli - CCA
Congenital disorder of glycosylation
Congenital fibrosis of extraocular muscles
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with intellectual disability
Congenital myopathy with myasthenic-like onset
Constitutional neutropenia with extra-hematopoietic manifestations
Corpus callosum agenesis-neuronopathy syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Cortical dysplasia-focal epilepsy syndrome
Dermatosparaksis Ehlers-Danlos' syndrom
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Diazoxide‑resistant diffuse hyperinsulinism
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Distal 7q11.23 microduplication syndrome
Distal arthrogrypose type 8 - Escobar type
Distal arthrogrypose type type 10
Distal hereditary motor neuropathy type 5
Distal motorisk nevronopati type 1
Distal myopathy with anterior tibial onset
Distal myopathy with nebulin defect
Distal myopathy with posterior leg and anterior hand involvement
Distal spinal muscular atrophy type 3
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Dopa‑responsive dystonia due to sepiapterin reductase deficiency
DYNC1H1 relatert proksimal spinal muskelatrofi
DYRK1A‑related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Emery-Dreifuss muscular dystrophy, autosomal recessiv
Emery-Dreifuss’ muskeldystrofi
Epidermodysplasia verruciformis
Epidermolysis bullosa, dystrofisk
Epidermolysis bullosa, junksjonal
Epidermolysis bullosa, recessiv dystrofisk
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facioscapulohumeral muskeldystrofi
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial isolated congenital asplenia
Familiære thorakale aortaaneurismer og disseksjoner
Familiær osteokondritis dissecans
Fascioscapulohumeral dystrophy
Fettsyre-hydroksylase-assosiert nevrodegenerasjon
Fibrodysplasia ossificans progressiva (FOP)
Fibrøs dysplasi,polystotisk type
Fibrøs dysplasi monostotisk type
Forstyrrelser i kjønnsutviklingen
Genetic susceptibility to infections due to particular pathogens
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease Type V (McArdle) - (AR)
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatoerytropoietisk porfyri (HEP)
Hereditary continuous muscle fiber activity
Hereditary folate malabsorption
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Hereditary pulmonary alveolar proteinosis
Hereditær nevropati med trykkpareser
Hereditær spastisk paraplegi type 7
Herpes simplex virus encephalitis
Hyper-IgM syndrome with susceptibility to opportunistic infections
Hyperimmunoglobulinemia D with periodic fever
Hyperkalemisk periodisk paralyse
Hypermobil Ehlers-Danlos syndrom
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypokalemisk periodisk paralyse
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination‑hypogonadotropic hypogonadism‑hypodontia syndrome
Idiopathic CD4 lymphocytopenia
Ikke-syndromisk reduksjonsdefekt av armer eller ben (dysmeli)
IL21-related infantile inflammatory bowel disease
Immune-mediert necrotiserende myopati
Immune dysregulation disease with immunodeficiency
Immune dysregulation with inflammatory bowel disease
Immunodeficiency by defective expression of MHC class I
Immunodeficiency by defective expression of MHC class II
Immunodeficiency due to absence of thymus
Immunodeficiency due to a complement cascade component deficiency
Immunodeficiency due to a complement cascade protein anomaly
Immunodeficiency due to a complement regulatory deficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Immunodeficiency predominantly affecting antibody production
Immunodeficiency syndrome with autoimmunity
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Infantile hypertrophic cardiomyopathy due to MRPL4
Infantile neuroaxonal dystrophy
Infantil nevronal ceroid lipofuscinose
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability‑facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability‑macrocephaly‑hypotonia‑behavioral abnormalities syndrome
Isolated cerebellar hypoplasia/agenesis
Isolated cytochrome C oxidase deficiency
Isolated focal cortical dysplasia type I
KCNQ2-related epileptic encephalopathy
Klassisk-lignende Ehlers-Danlos' syndrom type 1 (TNXB mutasjon)
Klassisk-lignende Ehlers-Danlos' syndrom type 2 (AEBP1 mutasjon)
Klassisk Ehlers-Danlos' syndrom
Kleefstras syndrom, due to 9q34 mikrodelesjon
Kleefstra syndrome due to a point mutation
Komplett androgen insensitivitetssyndrom
Kondroektodermal dysplasi (Ellis-van Crevelds syndrom)
Kongenital erytropoietisk porfyri (CEP)
Kongenital muskeldystrofi grunnet LMNA mutasjon
Kongenitt nevronal ceroid lipofuscinose
Kortvoksthet-fremskreden benalder-tidlig osteoartritt syndrom
Kronisk inflammatorisk demyeliniserende polynevropati
Kronisk progressiv ekstern ophthalmoplegi
Laing early-onset distal myopathy
LAMA2- relatert muskeldystrofi
Laminopati med skjellettmuskelaffeksjon
Laron syndrome with immunodeficiency
Lebers hereditære optikusnevropati
Leigh syndrom med leukodystrofi
Lethal ataxia with deafness and optic atrophy
Limb-girdle muskeldystofi type R5 (2C)
Limb-girdle muskeldystofi type R6 (2F)
Limb-girdle muskeldystofi type R11 (2K)
Limb-girdle muskeldystrofi BVES-relatert
Limb-girdle muskeldystrofi type D4 Calpain3-relatert
Limb-girdle muskeldystrofi type R1 Calpain3-relatert
Limb-girdle muskeldystrofi type R2 Dysferlin-relatert
Limb-girdle muskeldystrofi type R3 Alpha-sarcoglycan-relatert
Limb-girdle muskeldystrofi type R4 Beta-sarcoglycan-relatert
Limb-Girdle muskeldystrofi type R7 (2G)
Limb-Girdle muskeldystrofi type R8 (2H)
Limb-girdle muskeldystrofi type R9 FKRP-relatert
Limb-girdle muskeldystrofi type R10 Titin-relatert
Limb-girdle muskeldystrofi type R12 Anoctamin5-relatert
Limb-girdle muskeldystrofi type R19 GMPPB-relatert
Limb-girdle muskeldystrofi type R22 Collagen VI-relatert (Bethlem myopati)
Limb-girdle muskeldystrofi type R23 Laminin-subunit relatert
Limb girdle muskeldystrofi type 1E
Limb girdle muskeldystrofi type 1H
Limb girdle muskeldystrofi type D1 (1D)
Limb girdle muskeldystrofi type D2 (1F)
Limb girdle muskeldystrofi type D3 (1G)
Limb girdle muskeldystrofi type R13 (2M)
Limb girdle muskeldystrofi type R14 (2N)
Limb girdle muskeldystrofi type R15 (2O)
Limb girdle muskeldystrofi type R16 (2P)
Limb girdle muskeldystrofi type R17 (2Q)
Lissencephaly due to TUBA1A mutation
Lissencephaly type 1 due to doublecortin gene mutation
Lower motor neuron syndrome with late-adult onset
Mandibulofacial dysostose-mikrokefali (MFDM)
Maple Syrup Urine Disease (MSUD)
Marfanoid habitus-facial dysmorfisme-skjelettabnormalitet-hjertedefekt syndrom
Maternally inherited diabetes and deafness
Maternal uniparental disomy of chromosome 14
Medfødt mangel av fingre - unntatt tommel (dysmeli)
Medfødt mangel av fot (dysmeli)
Medfødt mangel av hånd (dysmeli)
Medfødt mangel av underarm og hånd (dysmeli)
Medfødt mangel tommel (dysmeli)
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly‑capillary malformation‑polymicrogyria syndrome
Mendelian susceptibility to mycobacterial diseases
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Metafyseal kondrodysplasi, Jansen type
Metafyseal kondrodysplasi, Schmid type
Metopic ridging-ptosis-facial dysmorphism syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy and sideroblastic anemia
Mitokondrie-neurogastrointestinal encefalomyopati
Mitokondriemembranprotein assosiert nevrodegenerasjon
Mitokondriesykdom, uspesifisert
Monocytopenia with susceptibility to infections
Monogenic disease with epilepsy
Mowat-Wilson syndrome due to a ZEB2 point mutition
Mowat-Wilson syndrome due to monosomy 2q22
Multiminicore disease, classical form
Multippel epifyseal dysplasi (MED)
Muskel-øye-hjerne sykdom (MEB)
Muskulokontraktural Ehlers-Danlos' syndrom
Myoklonisk epilepsi med ragged red fibers
Myopatisk Ehlers-Danlos' syndrom
Myopati ved metabolske forstyrrelser (arvelig)
Nemaline myopathy intermediate
Neonatal inflammatory skin and bowel disease
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Neurogenic scapuloperoneal syndrome, Kaeser type
Neutrophil immunodeficiency syndrome
Nevrodegenerativ jernavleiringssykdom
Non-progressive cerebellar ataxia with intellectual disability
Non-severe combined immunodeficiency
Non-specific syndromic intellectual disability
Non-syndromic anorectal malformation with anal stenosis
Nonaka myopathy (GNE myopathy)
Noonan syndrome with multiple lentigines
Oculopharyngeal muskeldystrofi
Optic atrophy‑intellectual disability syndrome
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
Osteopatia Striata, cranial sclerose syndrom
Osteosklerotisk metafyseal dysplasi
Other immunodeficiency syndromes due to defects in innate immunity
Other immunodeficiency syndrome with predominantly antibody defects
Pancytopenia due to IKZF1 mutations
Pantotenate kinase-assosiert nevrodegenerativ sykdom
Partial deletion of chromosome 2
Partial deletion of chromosome 3
Partial deletion of chromosome 18
Partial deletion of chromosome X
Partial deletion of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 8
Partial deletion of the long arm of chromosome 11
Partial deletion of the long arm of chromosome 12
Partial deletion of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 18
Partial deletion of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 19
Partial duplication of chromosome 3
Partial duplication of chromosome 8
Partial duplication of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 3
Partial duplication of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 15
Partial duplication of the long arm of chromosome 17
Partial duplication of the long arm of chromosome X
Partial duplication of the short arm of chromosome 1
Partial duplication of the short arm of chromosome 2
Partial duplication of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 19
Partial trisomy/tetrasomy of chromosome 5
Partial trisomy/tetrasomy of chromosome 9
Partial trisomy/tetrasomy of the short arm of chromosome 9
Partial trisomy/tetrasomy of the short arm of chromosome 12
Partiell androgen insensitivitetssyndrom
Paternal 14q32.2 hypomethylation syndrome
Periodic paralysis with transient compartment-like syndrome
Periodontal Ehlers-Danlos' syndrom
Periventricular nodular heterotopia
PLCG2-associated antibody deficiency and immune dysregulation
Pontine tegmental cap dysplasia
Postsynaptisk kongenitalt myastent syndrom
Prader‑Willi syndrome due to imprinting mutation
Prader‑Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader‑Willi syndrome due to paternal 15q11q13 deletion
Predisposition to invasive fungal disease due to CARD9 deficiency
Predisposition to severe viral infection due to IRF7 deficiency
Presynaptisk kongenitalt myastent syndrom
Primary hemophagocytic lymphohistiocytosis
Primary immunodeficiency due to a defect in adaptive immunity
Primary immunodeficiency due to a defect in innate immunity
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary immunodeficiency with predisposition to severe viral infection
Progressiv ekstern ophthalmoplegi
Progressiv ekstern ophthalmoplegi
Progressiv myoklonusepilepsi Nordsjøvarianten
Progressiv pseudorheumatoid dysplasi
Proximal 16p11.2 microduplication syndrome
Pseudohypoparathyreodisme type 1A
Pseudohypoparathyreodismetype 1C
Pseudohypopharatyreodisme med Albrights hereditære (arvelige) osteodystrofi
Pseudopseudohypoparathyroidisme
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Purine nucleoside phosphorylase deficiency
Rapid-onset dystonia-parkinsonism
Recurrent infection due to specific granule deficiency
RERE-related neurodevelopmental syndrome
RFVT2-related riboflavin transporter deficiency type 2
Riboflavin transporter deficiency
Rippling muscle disease - (AD)
Robinows syndrom, autosomal dominant type
Robinows syndrom, autosomal recessiv type
Rubinstein-Taybi syndrome due to CREBBP mutations
Scapuloperoneal spinal muscular atrophy
Seninfantil nevronal ceroid lipofuscinose
Severe combined immunodeficiency
Severe combined immunodeficiency due to FOXN1 deficiency
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe intellectual disability‑progressive spastic diplegia syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Silver‑Russell syndrome due to an imprinting defect of 11p15
Silver‑Russell syndrome due to maternal uniparental disomy of chromosome 7
Silver‑Russell syndrome due to maternal uniparental disomy of chromosome 11
Simplex epidermolysis bullosa (EB)
SIN3A-related intellectual disability syndrome due to a point mutation
Sjelden sykdom etter full utredning
Sjelden sykdom med thorakalt aortaaneurisme og disseksjon
SOD1 Amyotrofisk lateral sclerose
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Spedbarnsepilepsi med migrerende fokale anfall
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 2
Spinal muskelatrofi type 3 (Kugelberg-Welander)
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 29
Spondylodysplastisk Ehlers-Danlos' syndrom (SLC39A13 mutasjon)
Spondyloepifyseal dysplasi, Kimberly type - SEDK
Spondyloepifyseal dysplasi congenita – SEDC
Spondyloepifyseal dysplasi tarda, SEDT, X-bundet
Spondyloepifyseal dysplasi – SED
Spondyloepimetaphyseal dysplasi, aggrecan type
Spondylokarpotarsal synostose syndrom
Spondylometafyseal dysplasi (SMD), Kozlowski type
Spondylometafyseal dysplasi (SMD), Schmidt type
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Sterile multifocal osteomyelitis with periostitis and pustulosis
STING-associated vasculopathy with onset in infancy
Susceptibility to localized juvenile periodontitis
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Symbrachydactyli, hender og føtter (dysmeli)
Symptomatic form of fragile X syndrome in female carrier
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Syndrome with combined immunodeficiency
Syndrome with corpus callosum agensis/dysgenesis as a major feature
Syndromic X-linked intellectual disability due to JARID1C mutation
Syndromisk reduksjonsdefekt arm eller ben (dysmeli)
T-cell immunodeficiency with epidermodysplasia verruciformis
Tall stature‑intellectual disability‑facial dysmorphism syndrome
TBCK-related intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
Thrombocytopenia-absent radius syndrome (Dysmeli)
Thrombotic thrombocytopenic purpura
Thyreotoksisk periodisk paralyse
Transient hypogammaglobulinemia of infancy
Trikorhinofalangealt syndrom (TRPS)
Trikorhinofalangealt syndrom type 1 og 3
Trikorhinofalangealt syndrom Type 2
Tubulinopathy-associated dysgyria
Tumor necrosis factor receptor 1 associated periodic syndrome
Vasculitis due to ADA2 deficiency
Vaskulær Ehlers-Danlos' syndrom
Vocal cord and pharyngeal distal myopathy
Von Willebrand-lignende tilstander
Von Willebrands sykdom, type I, mild grad
Von Willebrands sykdom, type II
Von Willebrands sykdom, type II A
X-bundet centronukleær myopati
X-bundet Emery-Dreifuss muskeldystrofi
X-linked Charcot‑Marie‑Tooth disease
X-linked creatine transporter deficiency
X-linked diffuse leiomyomatosis‑Alport syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Snyder type
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked non-syndromic intellectual disability
X-linked reticulate pigmentary disorder
X-linked syndromic intellectual disability
Xeroderma pigmentosum-Cockayne syndrome complex
Kyfoskoliotisk Ehlers-Danlos’ syndrom (PLOD1 mutasjon)
Også kjent som: Kyfoskoliotisk EDS
Engelsk navn: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Engelske synonym: Cutis hyperelastica,EDS VIA,Ehlers-Danlos syndrome type 6A,Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency,Lysyl hydroxylase-deficient EDS,Ocular-scoliotic EDS,kEDS-PLOD1
Definisjon
Kyfoskoliotisk Ehlers-Danlos' syndrom (EDS) er en svært sjelden undertype av EDS. Det er beskrevet to undertyper av kyfoskoliotisk EDS, relatert til genforandring (mutasjon) i PLOD1 eller FKBP22 genet. Tilstanden kjennetegnes av medfødt muskelhypotoni, medfødt eller tidlig debut av ryggskjevhet (kyphoscolioses), som kan være progredierende eller ikke-progredierende.
Fra Orphanet
ORPHA: 1900
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q79.6
