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1p21.3 microdeletion syndrome

1p31p32 microdeletion syndrome

1p36 deletion syndrome

1q21.1 duplikasjon

1q21.1 mikrodelesjon

1q44 microdeletion syndrome

2p13.2 microdeletion syndrome

2p15p16.1 microdeletion syndrome

2p21 microdeletion syndrome without cystinuria

2q23.1 mikrodelesjon

2q24 mikrodelesjon

2q31.1 mikroduplikasjon

2q32q33 mikrodelesjon

2q33.1 mikrodelesjon

2q37 microdeletion syndrome

3M syndrom

3q13 mikrodelesjon

3q27.3 microdeletion syndrome

3q29 mikrodelesjon

3q29 mikroduplikasjon

4H leukodystrophy

4p16.3 mikroduplikasjon

4q21 mikrodelesjon

5q14.3 mikrodelesjon

5q35 delesjon

5q35 mikroduplikasjon

6p22 mikrodelesjon

6q16 mikrodelesjon

6q25 mikrodelesjon

6q terminal delesjon

7p22.1 mikroduplikasjon

7q11.23 mikroduplikasjon

7q31 mikrodelesjon

8p23.1 duplikasjon

8p23.1 mikrodelesjon

9p13 mikrodelesjon

12q14 mikrodelesjon

13q12.3 mikrodelesjon

14q22q23 mikrodelesjon

15q11 duplikasjon / inversjon

15q11.2 mikrodelesjon

15q11q13 microduplication syndrome

15q13.3 mikrodelesjon

15q14 mikrodelesjon

16p11.2 delesjon

16p11.2 mikrodelesjon syndrom

16p11.2p12.2 microduplication syndrome

16p11.2p12.2 mikrodelesjon

16p13.11 microduplication syndrome

16p13.11 mikrodelesjon

16q24.3 mikrodelesjon

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17p13.3 mikrodelesjon

17q12 microdeletion syndrome

17q12 mikroduplikasjon

17q21.31 mikrodelesjon

19p13.3 microduplication syndrome

19p13.13 mikrodelesjon

20p13 microdeletion syndrome

20q12.3 mikrodelesjon

20q13.33 microdeletion syndrome

22q11.2 delesjonssyndrom

22q11.2 duplikasjon

22q11.2 mikrodelesjonssyndrom

22q11.2 syndrom

22q13.3 syndrom

45,X/46,XY mixed gonadal dysgenesis

47 XYY syndrom

48 XXXY syndrom

48 XXYY syndrom

49 XXXXY syndrom

A

Aagenæs syndrom

Aarskog syndrom

Absent thumb-short stature-immunodeficiency syndrome

Aceruloplasminemi

Acetazolamide-responsive myotonia

Adams-Olivers syndrom

ADNP‑related multiple congenital anomalies‑intellectual disability-autism spectrum disorder

Adrenoleukodystrofi

Adult nevronal ceroid lipofuscinose

Adult‑onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Afibrinogenemi

Agammaglobulinemi

AGAT

Aicardi-Goutières syndrome

Aicardis syndrom

Akondroplasi

Akrodysostose

Akrokallosalt syndrom

Akromesomelisk dysplasi

Akromesomelisk dysplasi, Grebe Type

Akromesomelisk dysplasi, Hunter-Thompson type

Akromesomelisk dysplasi, Maroteaux type

Akutt intermitterende porfyri (AIP)

Alagille syndrom

Albrights hereditære osteodystrofi

Albrights hereditære osteodystrofi Type 1C

Alexander disease type I

Alexanders sykdom

ALG6-CDG

Allan-Herndon-Dudley syndrome

Alpers sykdom

Alpha delta granule deficiency

Alpha‑mannosidosis

Alpha‑thalassemia‑intellectual disability syndrome linked to chromosome 16

Alpha‑thalassemia‑X‑linked intellectual disability syndrome

Alport syndrom

Alternating hemiplegia of childhood

Alternerende hemiplegi

Amnionbånd syndrom

Amyloidose

Androgent insensitivitetssyndrom (AIS)

Angelmans syndrom

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

Aniridi

Annen spesifisert nevropati HNPP

Anomaly of chromosome 6

Anomaly of chromosome 7

Anomaly of chromosome 15

Anorektale misdannelser

Anorektale misdannelser (ARM)

Anotia

Apert syndrom

Arteriell tortuosity syndrom

Arthrogryposis multiplex congenita (AMC)

Artrogrypose syndrom

Arvelig ataksi

Arvelig autosomal spastisk parapleksi

Arvelig faktor Xlll-mangel

Arvelig kardiomyopati ved LMN A-mutasjon C-gen

Arvelig sensorisk og autonomisk nevropati

ARX-related encephalopathy-brain malformation spectrum

Aspartylglycosaminuri

Asperger syndrom

Asymptomatisk ALD

Ataxia telangiectasia

ATR-X-related syndrome

Atypical Rett syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Autoimmune polyendocrinopathy

Autoimmunt lymfoproliferativt syndom

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal agammaglobulinemia

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 dominant type brachyolmi

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 recessive ataxia, Beauce type

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive limb‑girdle muscular dystrophy

Autosomal recessive non‑syndromic intellectual disability

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

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

Autososmal dominant cutis laxa

Axonal hereditary motor and sensory neuropathy

Axonal neurophaty type 2

C

Campomelisk dysplasi

Camurati-Engelmanns syndrom

Canavans sykdom

CAP myopati

Cardiofaciocutant syndrom

Carney complex

Cartilage-hair hypoplasi (CHH)

Catel-Manzkes syndrom

Cat‑eye syndrom

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

Central core disease

Central nervous system malformation

Centronuclear myopathy

Cerebellar ataksi, recissivt autosomal

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia late onset

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

Cernunnos-XLF deficiency

Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooths sykdom

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 2E

Charcot Marie Tooth type 2H

Charcot Marie Tooth type 2i

Charcot Marie Tooth type 2J

Charcot Marie Tooth type 4A

Charcot Marie Tooth type 4E

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

CHARGE syndrom

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset nemaline myopathy

Chondrodysplasia punctata

Chronic granulomatous disease

Chronic mucocutaneous candidiasis

Chédiak-Higashi syndrom

Classic maple syrup urine disease

Cleidokranial dysplasi

CLN1 sykdom

CLN3 sykdom

CLN8 sykdom

CLOVES syndrome

CMT 1 PMP2-relatert

CMT III

CMT type 5

CNS malformation

COASY-protein-assosiert nevrodegenerasjon

Cockayne syndrom

Coffin-Lowrys syndrom

Coffin-Siris’ syndrom

Cohens syndrom

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

Congenital nemaline myopathy

Constitutional neutropenia

Constitutional neutropenia with extra-hematopoietic manifestations

Cornelia de Langes syndrom

Corpus callosum agenesis-neuronopathy syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Cortical dysplasia-focal epilepsy syndrome

Costellos syndrom

Cowdens syndrom

CPT2-mangel adult form

Craniofacial mikrosomi

Craniofrontonasal dysplasi

Craniometalfyseal dysplasi

Creatine deficiency syndrome

Cri du chat syndrom

Crouzon syndrom

Cryopyrin-associated periodic syndrome

Currarino syndrom

Cutis laxa

Cyclic neutropenia

Cystinose

Cystisk fibrose

I

Idiopathic CD4 lymphocytopenia

Idiopatisk hypersomni

IgG4-relatert sykdom

IgG subklassedefekter

Ikke-syndromisk reduksjonsdefekt av armer eller ben (dysmeli)

Iktyose

IL21-related infantile inflammatory bowel disease

Immune-mediert necrotiserende myopati

Immune dysregulation disease with immunodeficiency

Immune dysregulation with inflammatory bowel disease

Immuno-osseous dysplasia

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

Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells

Incontinentia pigmenti (IP)

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

Infantile hypertrophic cardiomyopathy due to MRPL4

Infantile Krabbe disease

Infantile neuroaxonal dystrophy

Infantil nevroaxonal dystrofi

Infantil nevronal ceroid lipofuscinose

Infantil refsum disease

Infantil spinal muskelatrofi

Inklusjonslegememyositt

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

IPEX

Isolated biliary atresia

Isolated cerebellar hypoplasia/agenesis

Isolated complex I deficiency

Isolated cytochrome C oxidase deficiency

Isolated epispadias

Isolated focal cortical dysplasia type I

Isolated hemihyperplasia

Isolert spalte hånd og for malformasjon

Isolert spina bifida

Isovaleriansyremi

L

L1 syndrom

Laforas sykdom

Laing early-onset distal myopathy

LAMA2- relatert muskeldystrofi

LAMA2- relatert muskeldystrofi

Lamb-Shaffers syndrom

Laminopati med skjellettmuskelaffeksjon

Landau-Kleffners syndrom

Laron syndrome with immunodeficiency

Larsens syndrom

LCAT-mangel

LCHAD

Lebers hereditære optikusnevropati

Leigh syndrom

Leigh syndrom med leukodystrofi

Lesch-Nyhans syndrom

Lethal ataxia with deafness and optic atrophy

Leukocyte adhesion deficiency

Leukodystrofi

LIG4 syndrome

Limb-girdle muskeldystofi type R5 (2C)

Limb-girdle muskeldystofi type R6 (2F)

Limb-girdle muskeldystofi type R11 (2K)

Limb-girdle muskeldystrofi

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 1A

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)

Lipomyelomeningocele

Lissencefali

Lissencephaly due to TUBA1A mutation

Lissencephaly type 1 due to doublecortin gene mutation

Loeys-Dietz' syndrom

Lower motor neuron syndrome with late-adult onset

Lumbosacral spina bifida aperta

Lymphoproliferative syndrome

Léri-Weills dyskondrosteose (LWD)

M

Machado‑Joseph disease type 3

Maffuccis syndrom

Majeed syndrome

Malan overgrowth syndrome

Malign hypertermi

Mannosidose

Maple Syrup Urine Disease (MSUD)

Marfans syndrom

Marinesco-Sjögrens syndrom

Mastocytose - systemisk

Mastocytose i hud

Maternally inherited diabetes and deafness

Maternal uniparental disomy of chromosome 14

Mazabrauds syndrom

McCune-Albrights syndrom

MECP2 duplication syndrome

Medfødt binyrebarksvikt

Medfødt mangel av fingre (unntatt tommel)

Medfødt mangel av fot (dysmeli)

Medfødt mangel av hånd (dysmeli)

Medfødt mangel av underarm og hånd (dysmeli)

Medfødt mangel tommel (dysmeli)

Medfødt MD type Ullrich

Medfødt myotoni

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Megalencephaly‑capillary malformation‑polymicrogyria syndrome

MEGDEL syndrome

MELAS

Melorheostose

Mendelian susceptibility to mycobacterial diseases

Menkes syndrom

Metabolsk muskelsykdom

Metachromatic leukodystrophy

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Metafyseal kondrodysplasi, Jansen type

Metafyseal kondrodysplasi, Schmid type

Metakondromatose

Metatrofisk dysplasi

Metopicasynostose

Metopic ridging-ptosis-facial dysmorphism syndrome

Metylmalonsyreemi

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Migrasjonsforstyrrelse

Mikroti og anoti

Miller-Diekers syndrom

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy and sideroblastic anemia

Mitokondrie-neurogastrointestinal encefalomyopati

Mitokondriemembranprotein assosiert nevrodegenerasjon

Mitokondriemyopati

Mitokondriesykdom

Mitokondriesykdom, uspesifisert

Miyoshi myopati

Monocytopenia with susceptibility to infections

Monogenic disease with epilepsy

Monosomi 3p

Monosomi 4q

Monosomi 9p

Monosomi 12q

Monosomi 13q

Monosomi 13q34

Monosomi 15q

Monosomi 18p

Monosomi 18q

Monosomi 21

Monosomy 9p

Monosomy 12p

Mowat-Wilson syndrom

Mowat-Wilson syndrome due to a ZEB2 point mutition

Mowat-Wilson syndrome due to monosomy 2q22

MPS IIA

MPS IIB

Mucolipidosis type III

Mucopolysaccharidosis type 1

Mucopolysaccharidosis type 2

Mucopolysaccharidosis type 3

Mucopolysaccharidosis type 4

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 6

Mucopolysaccharidosis type 7

Muenke syndrome

Mukolipidose type II

Mukopolysakkaridose

Mukopolysakkaridose type 9

Multifocal motor neuropathy

Multiminicore disease, classical form

Multiminicore myopati

Multiple intestinal atresia

Multiple osteokondromer (MO)

Multippel epifyseal dysplasi (MED)

Muskel-øye-hjerne sykdom (MEB)

Muskeldystrofi

Myastenia gravis

Myeloperoxidase deficiency

Myhres syndrom

Myoklonisk epilepsi med ragged red fibers

Myopati ved metabolske forstyrrelser (arvelig)

Myosclerosis - (AR)

Myotone lidelser

Myotonia congenita (Thomsen og Becker)

Myotonia fluctuans

Myotonia permanens

Myotonica congenita

Myotonic syndrom

Möbius’ syndrom

P

Pachyonychia congenita

Palmoplantar keratodermi, PPK

Pancytopenia due to IKZF1 mutations

Pantotenate kinase-assosiert nevrodegenerativ sykdom

Papillon-Lefèvre syndrom

Paramyotoni (medfødt)

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

Pearsons syndrom

Pelizaeus-Merzbachers sykdom

Penta X syndrom

Perineurioma

Periodic paralysis with transient compartment-like syndrome

Periodisk paralyse

Periventricular nodular heterotopia

Perlmans syndrom

Pfeiffer syndrom

Phenylketonuria, mild

Pierre Robin sekvens

Pitt-Hopkins’ syndrom

Pitt‑Hopkins‑like syndrome

PKU

PLCG2-associated antibody deficiency and immune dysregulation

PMM2-CDG

POIKMTP

Polands syndrom

Polymicrogyria

Polymyositt

Pompes sykdom

Pontine tegmental cap dysplasia

Porphyria cutanea tarda (PCT)

Porphyria variegata (PV)

Postsynaptisk kongenitalt myastent syndrom

Prader-Willis 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

Primær Ciliær Dyskinesi

Primær immunsvikt

Progeria

Progressiv ekstern ophthalmoplegi

Progressiv ekstern ophthalmoplegi

Progressiv myoklonusepilepsi Nordsjøvarianten

Progressiv ossøs heteroplasi

Progressiv pseudorheumatoid dysplasi

Propionsyreemi

Proteus’ syndrom

Proximal 16p11.2 microduplication syndrome

Pseudoakondroplasi

Pseudohypopharatyreodisme med Albrights hereditære (arvelige) osteodystrofi

Pseudopseudohypoparathyroidisme

Pseudo xanthoma elasticum

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Purine nucleoside phosphorylase deficiency

Pyknodysostose

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Pyruvat dehydrogenese defect

Pyruvate dehydrogenase E1-alpha deficiency

S

Sallas sykdom

Sandhoffs sykdom

Sanfilippo syndrome type B

Scapuloperoneal spinal muscular atrophy

Scheies sykdom

Schimke immuno-ossøs dysplasi

Schinzel‑Giedion syndrom

Schizencefali

Seckels syndrom

Selektiv IgA-mangel

Semilobar holoprosencephaly

Seninfantil nevronal ceroid lipofuscinose

Sensenbrenners syndrom

Septo-optisk dysplasi

Severe combined immunodeficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Severe congenital neutropenia

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

SHORT syndrom

Shprintzen-Goldbergs syndrom

Shwachman Diamond Syndrom

Sialidose

Silver‑Russell syndrom

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

Singleton-Merten dysplasia

Sjelden genetisk karsykdom

Sjelden koagulasjonsdefekt

Sjelden sykdom etter full utredning

Sjeldne bensykdommer

Sjeldne dysostoser

Sjögren‑Larsson syndrom

SLC35A2‑CDG

SLC39A8-CDG

SMALED2A

Smith-Magenis syndrom

SOD1 Amyotrofisk lateral sclerose

Sotos’ syndrom

Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells

Spedbarnsepilepsi med migrerende fokale anfall

Spina bifida cystica

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

Spinal muskelatrofi type 1

Spinal muskelatrofi type 2

Spinal muskelatrofi type 3 (Kugelberg-Welander)

Spinal muskelatrofi type 4

Spinocerebellar ataksi

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 13

Spinocerebellar ataxia type 29

Spondylocostal dysostose

Spondylodysplastisk EDS

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

Spondyloperiferal dysplasi

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Sterile multifocal osteomyelitis with periostitis and pustulosis

Sticklers syndrom

Sticklers syndrom type 2

Stickler syndrome type 1

Stickler syndrome type 3

Stickler syndrome type 4 og 5

STING-associated vasculopathy with onset in infancy

Sturge-Webers syndrom

STXBP1-related encephalopathy

Stüve-Wiedemanns syndrom

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 diarrhea

Syndromic X-linked intellectual disability due to JARID1C mutation

Syndromisk reduksjonsdefekt arm eller ben

SYNGAP1-related developmental and epileptic encephalopathy

Systemic autoimmune disease

Sæthre-Chotzens syndrom

DITRA


Engelsk navn: DITRA
Engelske synonym: Deficiency of IL-36R antagonist,Deficiency of IL-36Ra


A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.



Informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.

ORPHA: 404546
Klassifiseringsnivå: Disorder
ICD-10: L40.1



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