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10q22.3q23.3 microdeletion syndrome
- Article for general public
  English (2020.pdf) Deletions between 10q22 and 10q24 - Unique
10q22.3q23.3 microduplication syndrome
- Article for general public
  English (2009.pdf) 10q Duplications - Unique
  
  Русский (2009.pdf) 10q Duplications - Unique
12p12.1 microdeletion syndrome
- Article for general public
  Français (2019.pdf) SOX5 syndrome Lamb Shaffer Syndrome 12p12 deletions - Unique
  
  English (2019) SOX5 syndrome Lamb Shaffer Syndrome 12p12 deletions - Unique
  
  Русский (2020.pdf) SOX5 syndrome Lamb Shaffer Syndrome 12p12 deletions - Unique
12q14 microdeletion syndrome
- Article for general public
  English (2018.pdf) 12q14 Microdeletions - Unique
14q11.2 microdeletion syndrome
- Article for general public
  English (2016.pdf) 14q11.2 Deletions - Unique
  
  Русский (2016.pdf) 14q11.2 Deletions - Unique
14q11.2 microduplication syndrome
- Disability factsheet
  Français (2018.pdf) - Orphanet
14q22q23 microdeletion syndrome
- Article for general public
  English (2007.pdf) 14q Deletions Proximal To 14q22 - Unique
14q32 duplication syndrome
- Article for general public
  English (2007.pdf) 14q Deletions From 14q32.2 And 14q32.3 - Unique
- Clinical practice guidelines
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
15q11.2 microdeletion syndrome
- Article for general public
  English (2019.pdf) 15q11.2 Microduplications - Unique
  
  Русский (2020.pdf) 15q11.2 microduplications - Unique
15q11q13 microduplication syndrome
- Article for general public
  Français (2021.pdf) 15q11q13 Duplications - Unique
  
  English (2019.pdf) 15q11q13 Duplications - Unique
  
  ქართული (2020) 15q11q13 Duplications - Unique
  
  Русский (2017.pdf) 15q11q13 Duplications - Unique
  
  Italiano (2020.pdf) Duplicazioni Interstiziali 15q11q13 - Unique
- Clinical practice guidelines
  Français (2022) Syndrome de duplication 15q - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
15q13.3 microdeletion syndrome
- Article for general public
  English (2018.pdf) 15q13.3 Microdeletion Syndrome - Unique
  
  Español (2013.pdf) Sindrome De Microdelecion 15q13.3 Spanish - Unique
  
  Nederlands (2013.pdf) 15q13.3 microdeletie syndroom - Unique
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
15q24 microdeletion syndrome
- Article for general public
  English (2018.pdf) 15q24 Microdeletion Syndrome - Unique
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2012) - GeneReviews
16p11.2p12.2 microdeletion syndrome
- Article for general public
  Français (2022.pdf) Délétions16p12.2 - Unique
  
  Français (2013.pdf) Microdélétions 16p11.2 - Unique
  
  English (2019.pdf) 16p11.2 Microdeletions - Unique
  
  English (2020.pdf) 16p12.2 microdeletion - Unique
  
  Nederlands (2013.pdf) 16p11.2 microdeleties - Unique
  
  العربية (2019.pdf) 16p11.2 Microdeletions - Unique
16p13.11 microdeletion syndrome
- Article for general public
  Français (2018.pdf) Microdélétions 16p13.11 - Unique
  
  English (2018.pdf) 16p13.11 Microdeletions - Unique
  
  Nederlands (2018.pdf) 16p13.11 microdeleties - Unique
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
16p13.11 microduplication syndrome
- Article for general public
  Français (2019.pdf) 16p13.11 microduplications - Unique
  
  English (2019.pdf) 16p13.11 Microduplications - Unique
  
  Español (2018.pdf) 16p13.11 Microduplicaciones Spanish - Unique
  
  Русский (2020.pdf) 16p13.11 microduplications - Unique
16p13.3 microduplication syndrome
- Article for general public
  English (2018.pdf) 16p13.3 Duplications And Microduplications - Unique
  
  Русский (2013.pdf) 16p13.3 Duplications And Microduplications - Unique
16q24.1 microdeletion syndrome
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
17p11.2 microduplication syndrome
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2017) Potocki-Lupski Syndrome - GeneReviews
17p13.3 microduplication syndrome
- Clinical genetics review
  English (2021) PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia - GeneReviews
17q11 microdeletion syndrome
- Emergency guidelines
  Français (2019.pdf) Neurofibromatose type 1 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Neurofibromatose 1 - PNDS
  
  English (2023) ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 - EClinicalMedicine
  
  English (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation - Genet Med
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2022) Neurofibromatosis 1 - GeneReviews
17q12 microdeletion syndrome
- Article for general public
  Français (2022) Microdéletions 17q12 - Unique
  
  English (2018.pdf) 17q12 microdeletions - Unique
  
  Español (2013.pdf) 17q12 Microdeleciones Spanish - Unique
  
  中文 (2020.pdf) 17q12 microdeletions Chinese - Unique
- Clinical genetics review
  English (2020) - GeneReviews
17q12 microduplication syndrome
- Article for general public
  Français (2022.pdf) Microduplications 17q12 - Unique
  
  English (2018.pdf) 17q12 Microduplications - Unique
  
  Español (2018.pdf) 17q12 Microduplicaciones Spanish - Unique
- Clinical genetics review
  English (2022) - GeneReviews
17q21.31 microdeletion syndrome
- Clinical practice guidelines
  Français (2023) Syndrome de Koolen de Vries - PNDS
17q21.31 microduplication syndrome
- Article for general public
  English (2013.pdf) 17q21.31 Duplications - Unique
  
  Español (2009.pdf) Microdeleciones 17q21.31 - Unique
19p13.12 microdeletion syndrome
- Article for general public
  English (2018.pdf) 19p13.12 Microdeletions - Unique
19p13.13 microdeletion syndrome
- Article for general public
  Français (2022.pdf) 19p13.13 Microdeletions - Unique
  
  English (2018.pdf) 19p13.13 Microdeletions - Unique
1p31p32 microdeletion syndrome
- Clinical genetics review
  English (2019) NFIA-Related Disorder - GeneReviews
1p36 deletion syndrome
- Article for general public
  Français (2008.pdf) Syndrome De La Deletion 1p36 - Unique
  
  Français (2008.pdf) Syndrome De La Deletion 1p36 - Unique
  
  Polski (2012.pdf) 1p36 Zespol Delecji - Unique
  
  Polski (2012.pdf) 1p36 Zespol Delecji - Unique
  
  Deutsch (2015.pdf) - BVHK
  
  English (2020.pdf) 1p36 Deletions - Unique
  
  Español (2010.pdf) 1p36 Sindrome Delecion Spanish - Unique
  
  Español (2010.pdf) 1p36 Sindrome Delecion Spanish - Unique
  
  Nederlands (2013.pdf) 1p36 Deletie Syndroom - Unique
  
  Nederlands (2013.pdf) 1p36 Deletie Syndroom - Unique
  
  Svenska (2023) 1p36-deletionssyndromet - Socialstyrelsen
  
  ქართული (2020) 1p36 Deletie Syndroom - Unique
  
  Русский (2013.pdf) 1p36 Deletions - Unique
  
  Русский (2013.pdf) 1p36 Deletions - Unique
  
  中文 (2020.pdf) 1p36 Deletion Chinese - Unique
  
  中文 (2020.pdf) 1p36 Deletion Chinese - Unique
- Clinical practice guidelines
  Français (2022) Délétion 1p36 - PNDS
- Clinical genetics review
  English (2013) - GeneReviews
1q21.1 microdeletion syndrome
- Article for general public
  Polski (2013.pdf) 1q21.1 Mikrodelecji - Unique
  
  Deutsch (2015.pdf) 1q21 Mikrodeletionen German - Unique
  
  English (2018.pdf) 1q21.1 Microdeletions - Unique
  
  Español (2011.pdf) 1q21.1 Microdeleciones Spanish - Unique
  
  Nederlands (2013.pdf) 1q21.1 Microdeleties - Unique
- Clinical genetics review
  English (2015) - GeneReviews
1q21.1 microduplication syndrome
- Article for general public
  Français (2013.pdf) 1q21.1microduplications - Unique
  
  Deutsch (2013.pdf) 1q21.1 Mikroduplikationen German - Unique
  
  English (2018.pdf) 1q21.1 Microduplications - Unique
  
  Español (2013.pdf) 1q21.1 Microduplicaciones Spanish - Unique
  
  Nederlands (2013.pdf) 1q21 1 Microduplicaties - Unique
  
  Italiano (2018.pdf) Microduplicazione 1q21.1 - Unique
  
  Português (2018.pdf) Microduplicações 1q21.1 - Unique
1q41q42 microdeletion syndrome
- Article for general public
  Français (2013.pdf) 1q4 Deletions - Unique
  
  Deutsch (2014.pdf) 1q4 Von 1q42 Deletion An German - Unique
  
  English (2020.pdf) 1q4 deletions from 1q42 and beyond - Unique
  
  Español (2013.pdf) 1q Deleciones 1q42 Y Mas Alla Spanish - Unique
  
  Русский (2013.pdf) 1q4 Deletions - Unique
  
  Português (2013.pdf) Deleções 1q4: a partir da banda 1q42 - Unique
20q13.33 microdeletion syndrome
- Article for general public
  English (2016.pdf) 20q13.33 Deletions - Unique
21q deletion syndrome
- Article for general public
  Français (2017.pdf) 21q Deletions - Unique
  
  English (2005.pdf) 21q Deletions - Unique
  
  ქართული (2005.pdf) 21q Deletions - Unique
21q22.11q22.12 microdeletion syndrome
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
22q11.2 deletion syndrome
- Article for general public
  Français (2014.pdf) Vivre avec une microdélétion 22q11.2 - Fondation Groupama
  
  Lietuvių (2020.pdf) 22q11.2 delecijos sindromas (Velo-Kardio-Facialinis Sindromas) - Unique
  
  Deutsch (2010.pdf) - Centrum für Chronische Immundefizienz
  
  English (2021.pdf) 22q11 deletion syndrome - Unique
  
  English (2020) 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) - Unique
  
  Español (2013.pdf) 22q11.2 distal deletion syndrome Spanish - Unique
  
  Svenska (2024) - Socialstyrelsen
  
  한국어 (2020.pdf) 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) - Unique
  
  Русский (2015) 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) - Unique
  
  Português (2020) Síndrome da deleção 22q11.2 (Síndrome Velocardiofacial) - Unique
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
  
  Italiano (2016) - Orphananesthesia
  
  Português (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Délétion 22q11 - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2011) Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development - J Clin Immunol
  
  Español (2010.pdf) - ECEMC
  
  Svenska (2023.pdf) Nationellt vårdprogram för 22q11-deletionssyndromet - Nationellt programområde för sällsynta sjukdomar
- Review article
  English (2015) 22q11 deletion syndrome: current perspective - Appl Clin Genet
- Clinical genetics review
  English (2020) - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  Deutsch (2015.pdf) - Kardiologe
  
  English (2010) - Eur J Hum Genet
22q11.2 duplication syndrome
- Article for general public
  English (2019.pdf) 22q11.2 Microduplications - Unique
  
  Español (2019.pdf) 22q11.2 Microduplicaciones Spanish - Unique
  
  Nederlands (2011.pdf) 22q11 2 Microduplicaties - Unique
- Clinical genetics review
  English (2013) - GeneReviews
2p15p16.1 microdeletion syndrome
- Article for general public
  English (2018.pdf) 2p15p16.1 Microdeletion Syndrome - Unique
  
  Nederlands (2013.pdf) 2p15p16 1 Microdeletie Syndroom - Unique
  
  中文 (2018.pdf) 2p15p16.1 Microdeletion Syndrome - Unique
2q23.1 microdeletion syndrome
- Article for general public
  Deutsch (2018.pdf) 2q23.1 Mikrodeletions-Syndrom German - Unique
  
  English (2018.pdf) 2q23.1 Microdeletion Syndrome - Unique
  
  Español (2014) 2q23.1 Sindrome De Microdelecion En 2q23 1 Spanish - Unique
  
  العربية (2013.pdf) 2q23.1 Microdeletion Syndrome - Unique
  
  Português (2014.pdf) 2q23.1 Sindroma De Microdelecao - Unique
- Clinical genetics review
  English (2016.pdf) - Eur J Hum Genet
  
  English (2022) MBD5 Haploinsufficiency - GeneReviews
2q32q33 deletion syndrome
- Article for general public
  Français (2010.pdf) 2q32 Deletions Et MicroDeletions - Unique
  
  English (2018.pdf) 2q33.1 Deletions And Other Deletions Between 2q31 And 2q33 - Unique
  
  English (2018.pdf) 2q32 Deletions And Microdeletions - Unique
  
  中文 (2018.pdf) 2q33.1 Deletions And Other Deletions Between 2q31 And 2q33 - Unique
- Clinical genetics review
  English (2017) SATB2-Associated Syndrome - GeneReviews
2q37 microdeletion syndrome
- Article for general public
  Français (2009.pdf) 2q37 Deletions - Unique
  
  Français (2009.pdf) 2q37 Deletions - Unique
  
  English (2013.pdf) 2q37 Deletions In Adults And Adolescents - Unique
  
  English (2013.pdf) 2q37 Deletion Syndrome - Unique
  
  Español (2014.pdf) Sindrome De La Delecion 2q37 Spanish - Unique
  
  Español (2014.pdf) Sindrome De La Delecion 2q37 Spanish - Unique
  
  Nederlands (2011.pdf) 2q37 deleties bij jongeren en volwassenen - Unique
  
  Русский (2016.pdf) 2q37 Deletions In Adults And Adolescents - Unique
  
  Русский (2013.pdf) 2q37 Deletion Syndrome - Unique
- Clinical practice guidelines
  Français (2019) Microdélétion 2q37 - PNDS
- Clinical genetics review
  English (2013) - GeneReviews
3-hydroxy-3-methylglutaric aciduria
- Emergency guidelines
  Français (2022) Protocole d'urgence - Hypoglycémie récidivante chez patient non connu - G2M
  
  Français (2023) Protocole d'urgence - Hypoglycémie aux urgences chez un patient non connu - G2M
  
  English (2022.pdf) Protocol for recurrent undiagnosed hypoglycaemia - G2M
  
  English (2022.pdf) Protocol for hypoglycaemia in A&E (no diagnosis known) - G2M
  
  English (2022.pdf) Protocol for ketogenesis disorders - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2020) - Orphanet J Rare Dis
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- Emergency guidelines
  English (2012.pdf) - Brit Inher Metab Dis Group
3-methylglutaconic aciduria
- Article for general public
  Deutsch (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
3-methylglutaconic aciduria type 1
- Clinical practice guidelines
  Deutsch (2022) - AWMF
3-methylglutaconic aciduria type 3
- Clinical genetics review
  English (2020) Costeff Syndrome - GeneReviews
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Article for general public
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- Clinical genetics review
  English (2023) Serine Deficiency Disorders - GeneReviews
3-phosphoserine phosphatase deficiency, infantile/juvenile form
- Clinical genetics review
  English (2023) Serine Deficiency Disorders - GeneReviews
3C syndrome
- Clinical genetics review
  English (2020) Ritscher-Schinzel Syndrome - GeneReviews
3M syndrome
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
  
  Português (2013) - Orphananesthesia
- Review article
  English (2012) Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination - Clin Endocrinol (Oxf)
- Clinical genetics review
  English (2019) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
3MC syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
3p25.3 microdeletion syndrome
- Article for general public
  Français (2005.pdf) 3p25 Deletions - Unique
  
  Deutsch (2012.pdf) 3p- Deletionssyndrom German - Unique
  
  English (2018.pdf) 3p25 Deletions - Unique
  
  Español (2013) 3p25 Deleciones 3p25 Tambien Llamadas 3p- (Menos) Spanish - Unique
  
  Русский (2018.pdf) 3p25 Deletions - Unique
3q13 microdeletion syndrome
- Article for general public
  English (2018.pdf) 3q13 Deletions And Microdeletions - Unique
  
  中文 (2018.pdf) 3q13 Deletions And Microdeletions - Unique
3q26 microduplication syndrome
- Disability factsheet
  Français (2019.pdf) - Orphanet
3q29 microdeletion syndrome
- Article for general public
  Français (2014.pdf) 3q29 Deletions Et Microdeletions - Unique
  
  English (2018.pdf) 3q29 Deletions And Microdeletions - Unique
  
  Español (2019.pdf) 3q29 Deleciones Y Microdeleciones Spanish - Unique
  
  Nederlands (2013.pdf) 3q29 deleties en microdeleties - Unique
  
  中文 (2018.pdf) 3q29 deletions and microdeletions Chinese - Unique
- Clinical genetics review
  English (2021) - GeneReviews
3q29 microduplication syndrome
- Article for general public
  English (2011.pdf) 3q29 Duplications And Microduplications - Unique
  
  中文 (2011.pdf) 3q29 Duplications And Microduplications - Unique
45,X/46,XY mixed gonadal dysgenesis
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2006) Consensus statement on management of intersex disorders - Arch Dis Child
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XX difference of sex development
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
46,XX difference of sex development induced by androgens excess
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
46,XX difference of sex development induced by fetal androgens excess
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XX difference of sex development induced by fetoplacental androgens excess
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XX difference of sex development induced by maternal-derived androgen
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XX difference of sex development-anorectal anomalies syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
46,XX disorder of gonadal development
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
46,XX gonadal dysgenesis
- Review article
  English (2012) - RadioGraphics
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
46,XX ovarian dysgenesis-short stature syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
46,XX ovotesticular difference of sex development
- Review article
  English (2012) - RadioGraphics
46,XX testicular difference of sex development
- Review article
  English (2013) Disorders of sex development: new genes, new concepts - Nat Rev Endocrinol
- Clinical genetics review
  English (2022) Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development - GeneReviews
46,XY complete gonadal dysgenesis
- Review article
  English (2012) - RadioGraphics
- Clinical genetics review
  English (2022) Nonsyndromic Disorders of Testicular Development Overview - GeneReviews
46,XY difference of sex development
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
- Clinical genetics review
  English (2022) Nonsyndromic Disorders of Testicular Development Overview - GeneReviews
46,XY difference of sex development due to impaired androgen production
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
46,XY difference of sex development of endocrine origin
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
46,XY disorder of gonadal development
- Clinical practice guidelines
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
- Review article
  English (2012) - RadioGraphics
46,XY ovotesticular difference of sex development
- Review article
  English (2012) - RadioGraphics
46,XY partial gonadal dysgenesis
- Review article
  English (2012) - RadioGraphics
47,XYY syndrome
- Article for general public
  Deutsch (2008.pdf) XYY - Unique
  
  Ελληνικά (2014.pdf) XYY - Unique
  
  English (2014.pdf) XYY - Unique
  
  English (2012.pdf) Disclosing about XYY for boys - Unique
  
  English (2012.pdf) Disclosing about XYY for parents - Unique
  
  Español (2022.pdf) XYY - Unique
  
  ქართული (2020.pdf) XYY - Unique
  
  Русский (2014.pdf) XYY - Unique
  
  Русский (2012.pdf) Disclosing about XYY for boys - Unique
  
  Русский (2012.pdf) Disclosing about XYY for parents - Unique
  
  Italiano (2020.pdf) La Sindrome 47,XYY - Unique
48,XXXY syndrome
- Article for general public
  Français (2011.pdf) XXXY syndrome - Unique
  
  Polski (2013.pdf) 48XXXY Zespol - Unique
  
  English (2008.pdf) XXXY Syndrome - Unique
  
  Español (2011.pdf) XXXY Syndrome Spanish - Unique
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
  
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
48,XXYY syndrome
- Article for general public
  Français (2011.pdf) Syndrome XXYY - Unique
  
  English (2005.pdf) XXYY Syndrome - Unique
  
  ქართული (2005.pdf) XXYY Syndrome - Unique
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
  
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
48,XYYY syndrome
- Article for general public
  English (2005.pdf) XYYY Syndrome - Unique
  
  ქართული (2005.pdf) XYYY Syndrome - Unique
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
49,XXXXY syndrome
- Article for general public
  Français (2008.pdf) Syndrome 49,XXXXY - Unique
  
  Polski (2013.pdf) 49XXXXY - Unique
  
  English (2020.pdf) XXXXY Syndrome - Unique
  
  Español (2011.pdf) XXXXY Syndrome - Unique
  
  ქართული (2020.pdf) XXXXY Syndrome - Unique
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
  
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
49,XXXYY syndrome
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
49,XYYYY syndrome
- Clinical practice guidelines
  Français (2022) Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon - PNDS
4H leukodystrophy
- Article for general public
  Deutsch (2015.pdf) - ACHSE
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2017) POLR3-Related Leukodystrophy - GeneReviews
4p16.3 microduplication syndrome
- Article for general public
  Français (2013.pdf) Duplications 4p - Unique
  
  English (2018.pdf) 4p Duplications - Unique
  
  Русский (2005.pdf) 4p Duplications - Unique
4q21 microdeletion syndrome
- Article for general public
  Deutsch (2019.pdf) 4q Deletions Between 4q21 And 4q22 German - Unique
  
  English (2019.pdf) 4q Deletions Between 4q21 And 4q22 - Unique
  
  Español (2014.pdf) 4q Deletions Between 4q21 And 4q22 Spanish - Unique
  
  Svenska (2018) - Socialstyrelsen
4q25 proximal deletion syndrome
- Article for general public
  English (2006.pdf) 4q Deletions Between 4q21and 4q31 - Unique
  
  中文 (2019.pdf) 4q Deletions Between 4q21and 4q31 - Unique
5-oxoprolinase deficiency
- Review article
  English (2007) - Orphanet J Rare Dis
5p13 microduplication syndrome
- Article for general public
  English (2021) 5p Trisomy Duplications Of 5p13 And 5p14 - Unique
5q14.3 microdeletion syndrome
- Article for general public
  English (2021.pdf) 5q14.3 Deletions - Unique
  
  English (2020.pdf) MEF2C Haploinsufficiency Syndrome - Unique
  
  ქართული (2020.pdf) MEF2C Haploinsufficiency Syndrome - Unique
  
  Русский (2011.pdf) 5q14.3 Deletions - Unique
  
  Русский (2020.pdf) MEF2C - Unique
5q35 microduplication syndrome
- Article for general public
  English (2020.pdf) 5q35 Duplications - Unique
6-phosphogluconate dehydrogenase deficiency
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
6-pyruvoyl-tetrahydropterin synthase deficiency
- Clinical practice guidelines
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
- Review article
  English (2005.pdf) - Orphanet
6q16 microdeletion syndrome
- Article for general public
  English (2019.pdf) 6q Deletions 6q11 To 6q16 - Unique
  
  Español (2019.pdf) 6q11q16 Deleciones Spanish - Unique
- Clinical genetics review
  English (2018) Prader-Willi Syndrome - GeneReviews
6q25.2q25.3 microdeletion syndrome
- Article for general public
  English (2018.pdf) 6q Deletions From 6q25 - Unique
  
  Nederlands (2014.pdf) 6p Deleties Vanaf 6p25 - Unique
- Clinical genetics review
  English (2019) ARID1B-Related Disorder - GeneReviews
7q11.23 microduplication syndrome
- Clinical practice guidelines
  Français (2019) Syndrome de microduplication 7q11.23 - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
7q31 microdeletion syndrome
- Article for general public
  Français (2021.pdf) Qu'est-ce que le trouble de la parole et du langage lié à FOXP2 ? - Unique
  
  Polski (2021.pdf) Czym jest zaburzenie mowy i j?zyka zwi?zane z FOXP2? - Unique
  
  Deutsch (2021.pdf) Was bedeutet die FOXP2- assoziierte Sprach- und Sprechstörung? - Unique
  
  English (2019.pdf) What is FOXP2 related speech & language disorder? - Unique
  
  Español (2021.pdf) ¿Qué es el trastorno del habla y el lenguaje relacionado con el gen FOXP2? - Unique
  
  Nederlands (2021.pdf) Wat is FOXP2-gerelateerde spraak- en taalstoornis? - Unique
  
  ქართული (2019.pdf) FOXP2 syndrome - Unique
  
  Русский (2019.pdf) FOXP2 Syndrome - Unique
  
  Italiano (2021.pdf) Che cos'è il disturbo della parola e del linguaggio legato a FOXP2? - Unique
  
  Português (2021.pdf) Qual é o distúrbio da linguagem e da fala associado com o gene FOXP2? - Unique
- Clinical genetics review
  English (2023) FOXP2-Related Speech and Language Disorder - GeneReviews
8p inverted duplication/deletion syndrome
- Article for general public
  Français (2011.pdf) Les Duplications 8p - Unique
  
  Polski (2021.pdf) 8p Inverted Duplication Deletion - Unique
  
  English (2019.pdf) 8p Inverted Duplication Deletion - Unique
  
  Español (2021.pdf) Duplicación invertida y deleción de 8p - Unique
  
  Русский (2020.pdf) 8p Inverted duplication deletion - Unique
  
  Italiano (2021.pdf) 8p Inverted Duplication Deletion - Unique
  
  Português (2019.pdf) Duplicação invertida & deleção 8p - Unique
- Clinical practice guidelines
  Français (2022) Syndrome de duplication/délétion inversée du bras court du chromosome 8 - PNDS
8p23.1 duplication syndrome
- Article for general public
  English (2013.pdf) 8p23 Duplications - Unique
  
  Nederlands (2015.pdf) 8p23 Duplicatie Syndroom - Unique
8p23.1 microdeletion syndrome
- Article for general public
  Français (2017.pdf) 8q Duplications - Unique
  
  English (2013.pdf) 8p23 Deletions - Unique
  
  Español (2013.pdf) 8p23 Delecion Spanish - Unique
  
  Nederlands (2013.pdf) 8p23 Deletie Syndroom - Unique
  
  Русский (2013.pdf) 8p23 Deletions - Unique
8q24.3 microdeletion syndrome
- Article for general public
  English (2020) PUF60-related syndrome (Verheij syndrome) - Unique
  
  Русский (2020.pdf) PUF60 related syndrome - Unique
9p13 microdeletion syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
9q33.3q34.11 microdeletion syndrome
- Article for general public
  English (2019.pdf) 9q Deletions Including 9q33 - Unique
  
  Español (2019.pdf) 9q Deleciones 9q Incluyendo 9q33 Spanish - Unique
  
  Nederlands (2015.pdf) 9q Interstitiele Deleties Inclusief 9q33 - Unique

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