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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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GeneReviews® [Internet].

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RETIRED GeneReviews

Initial Posting: ; Last Revision: May 16, 2024.

Estimated reading time: 1 minute

For a variety of reasons, the GeneReviews Editors occasionally remove chapters from the active website. See the table for a list of the chapters that have been retired and the reasons why they were retired. An archived version of these chapters may be accessed; see Note following table.

Retired GeneReview Chapter TitleReasonDate RetiredSHORTNAME
15q24 Microdeletion Syndrome15-9-19mdel15q24
1p36 Deletion Syndrome18-8-19del1p36
22q11.2 Duplication121-30-20dupl22q11
2q37 Microdeletion Syndrome11-18-18del2q37_2
9q22.3 Microdeletion18-2-18mdel9q22_3
Adams-Oliver Syndrome48-17-23adams-oliver
APOE p.Leu167del-Related Lipid Disorders911-7-19apoe-leu167del
Ataxia with Oculomotor Apraxia Type 145-2-24aoa
CATSPER-Related Male Infertility1612-14-23catsper-mi
Central Core Disease311-7-19cco
Charcot-Marie-Tooth Neuropathy Type 127-5-18cmt1
Charcot-Marie-Tooth Neuropathy Type 227-5-18cmt2
Charcot-Marie-Tooth Neuropathy Type 2E/1F28-15-19cmt2e
Charcot-Marie-Tooth Neuropathy Type 427-5-18cmt4
Charcot-Marie-Tooth Neuropathy Type 4H29-19-19cmt4h
Charcot-Marie-Tooth Neuropathy Type 4J29-19-19cmt4j
Charcot-Marie-Tooth Neuropathy X Type 5156-8-23cmtx5
Congenital Fiber-Type Disproportion34-18-19cftd
Congenital Hepatic Fibrosis35-14-20hepatic-fibrosis
Congenital Muscular Dystrophy Overview410-18-18cmd-overview
Craniofacial Microsomia Overview74-2-20m-hfm-ov
DFNX1 Nonsyndromic Hearing Loss and Deafness156-8-23dfnx1
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy29-19-19cmt-dib
Early-Onset Familial Alzheimer Disease59-13-18alzheimer-early
Episodic Ataxia Type 2910-22-20ea2
Esophageal Atresia / Tracheoesophageal Fistula Overview114-20-23tef-ov
Familial Exudative Vitreoretinopathy, Autosomal Dominant139-3-20fevr
Familial Monosomy 7 Syndrome1111-19-20mono7-mds
Familial Paroxysmal Kinesigenic Dyskinesia61-11-18pknd
Hereditary Neuralgic Amyotrophy78-29-19hna
Hirschsprung Disease Overview123-5-20hirschsprung-ov
Leber Congenital Amaurosis85-24-18lca
Lenz Microphthalmia Syndrome911-7-19lenz
Leukodystrophy Overview121-30-20leukodys-ov
Limb-Girdle Muscular Dystrophy Overview135-17-18lgmd-overview
Majeed Syndrome149-12-19majeed
Microphthalmia/Anophthalmia/Coloboma Spectrum411-7-19anophthalmia-ov
Mucolipidosis III Alpha/Beta108-29-19ml3a
Multiminicore Disease34-18-19mmd
Myofibrillar Myopathy35-9-19mfm
Myopathy with Deficiency of ISCU9, 132-10-22myodef-sda
Myostatin-Related Muscle Hypertrophy94-18-19mstn
Nemaline Myopathy311-7-19nem
Neuronal Ceroid-Lipofuscinosis114-11-19ncl
Nonsyndromic Hearing Loss and Deafness, DFNA349-7-23dfna3
Ocular Albinism, X-Linked1311-10-21x-oa
Oculocutaneous Albinism Type 141-7-21oca1
Oculocutaneous Albinism Type 241-7-21oca2
Optic Atrophy Type 145-9-24opa
Primary AR Microcephalies and Seckel Syndrome Spectrum Disorders119-10-18microcephaly
Proopiomelanocortin Deficiency94-16-20pomc-def
Spinocerebellar Ataxia Type 12912-13-18sca12
Spinocerebellar Ataxia Type 1544-25-24sca15
Spinocerebellar Ataxia Type 369, 132-11-21sca36
Susceptibility to Infection-Induced Acute Encephalopathy 399-10-20iiae3
Tetra Amelia93-7-19tetra-amelia
VCAN-Related Vitreoretinopathy135-16-24wagner
Wolf-Hirschhorn Syndrome14-18-19whs
X-Linked Sideroblastic Anemia and Ataxia98-20-20sider-anemia

Non-recurrent deletions or duplications; refers to deletions/duplications of varying size – in contrast to a recurrent deletion/duplication, defined as a deletion/duplication of a specific size (usually mediated by nonallelic homologous recombination) occurring multiple times in the general population


Histologic diagnosis without strong genetic correlation




Rarely genetic


Extremely rare


Chapter does not reflect current use of genetic testing.


Phenotype is too broad.


Outdated; qualified authors not available for update



  • Retired chapters are no longer searchable in GeneReviews Advanced Search; however, you can use the following URL and hand-enter the chapter SHORTNAME (see table) to access the archived version of a retired chapter: https://www.ncbi.nlm.nih.gov/books/n/gene/SHORTNAME.
  • The information in retired chapters is for historical reference only and is potentially misleading as it does not reflect current approaches to diagnosis, management, and genetic counseling. — The Editors
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK547596


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