Overview
Resources
Sub-types
Chromosomal, Genetic Abnormalities and Rare Diseases are some of the least researched disorders because many of them are so rare that only a few cases exist while others are more numerous. These disorders are due to a mutation or alteration of chromosomes or genes that make up a person’s DNA. Dmkbooks is trying to create a directory of resources for all disorders on the list. If you need information on one of the disorders that I haven’t posted a page on yet email me at dawn.kohler@dmkbooks.online
- 16p11.2 Deletion Syndrome
- 17q23.1q23.2 Microdeletion Syndrome
- 18p Deletion Syndrome
- 1p36 Deletion Syndrome
- 1q21.1 Microdeletion Syndrome
- 1q Duplication
- 21-Hydroxylase Deficiency
- 22q11.2 Deletion Syndrome
- 22q11.2 Duplication Syndrome
- 2q23.1 Microdeletion Syndrome
- 2q37 Deletion Syndrome
- Triple X Syndrome (47,XXX )
- AAA syndrome (achalasia-addisonianism–alacrima syndrome)
- Aarskog–Scott Syndrome
- ABCD Syndrome
- Aceruloplasminemia
- Acheiropodia
- Achondrogenesis
- Achondroplasia
- Acute Intermittent Porphyria
- Acute Myeloid Leukemia
- Adenylosuccinate Lyase Deficiency
- Adrenoleukodystrophy
- ADULT Syndrome
- Aicardi–Goutières Syndrome
- Alagille Syndrome
- Albinism
- Alexander Disease
- Alkaptonuria
- Alpha 1-Antitrypsin Deficiency
- Alport syndrome
- Alström syndrome
- Alternating Hemiplegia of Childhood
- Alzheimer’s disease
- Amelogenesis Imperfecta
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Amyotrophic Lateral Sclerosis (ALS)
- Androgen Insensitivity Syndrome
- Angelman syndrome
- Apert syndrome
- Arthrogryposis–renal Dysfunction–cholestasis Syndrome
- Ataxia Telangiectasia
- Axenfeld-Reiger Syndrome
- Bartter’s Syndrome
- Beare–Stevenson Cutis Gyrata Syndrome
- Beckwith–Wiedemann Syndrome
- Benjamin syndrome
- Biotinidase Deficiency
- Birt–Hogg–Dubé Syndrome
- Björnstad Syndrome
- Bloom Syndrome
- Brody Myopathy
- Brunner Syndrome
- Campomelic Dysplasia
- Canavan Disease
- CARASIL Syndrome
- Cardiac-Urogenital Syndrome
- Carpenter Syndrome
- Cat Eye Syndrome
- CDKL5 Deficiency Disorder
- Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK)
- Charcot-Marie- Tooth Disease
- CHARGE Syndrome
- Chédiak–Higashi Syndrome
- Chromosome 1, Uniparental Disomy 1q12 q21
- Chromosome 10p Deletion
- Chromosome 10p Duplication
- Chromosome 10q Deletion
- Chromosome 10q Duplication
- Chromosome 11p Deletion
- Chromosome 11p Duplication
- Chromosome 11q Deletion
- Chromosome 11q Duplication
- Chromosome 12p Deletion
- Chromosome 12p Duplication
- Chromosome 12q Deletion
- Chromosome 12q Duplication
- Chromosome 13q Deletion
- Chromosome 13q Duplication
- Chromosome 14q Deletion
- Chromosome 14q Duplication
- Chromosome 15q Deletion
- Chromosome 15q Duplication
- Chromosome 16 Trisomy
- Chromosome 16p Deletion
- Chromosome 16p Duplication
- Chromosome 16q Deletion
- Chromosome 16q Duplication
- Chromosome 17 Trisomy
- Chromosome 17p Deletion
- Chromosome 17p Duplication
- Chromosome 17q Deletion
- Chromosome 17q Duplication
- Chromosome 18p Deletion
- Chromosome 18p Duplication
- Chromosome 18p Tetrasomy
- Chromosome 18q Deletion
- Chromosome 18q Duplication
- Chromosome 19p Deletion
- Chromosome 19p Duplication
- Chromosome 19q Deletion
- Chromosome 19q Duplication
- Chromosome 1p Deletion
- Chromosome 1p Duplication
- Chromosome 1q Deletion
- Chromosome 1q Duplication
- Chromosome 1 Trisomy
- Chromosome 20 Trisomy
- Chromosome 20p Deletion
- Chromosome 20p Duplication
- Chromosome 20q Deletion
- Chromosome 20q Duplication
- Chromosome 21 Trisomy- Down Syndrome
- Chromosome 21q Deletion
- Chromosome 21q Duplication
- Chromosome 22q Deletion
- Chromosome 22q Duplication
- Chromosome 22 Trisomy
- Chromosome 2p Deletion
- Chromosome 2p Duplication
- Chromosome 2 Trisomy
- Chromosome 2q Deletion
- Chromosome 2q Duplication
- Chromosome 3p Partial Deletion
- Chromosome 3p Duplication
- Chromosome 3 Trisomy
- Chromosome 3q deletion*
- Chromosome 3q duplication*
- Chromosome 3q29 microduplication syndrome*
- Chromosome 4p deletion*
- Chromosome 4p duplication*
- Chromosome 4 Trisomy*
- Chromosome 4q deletion*
- Chromosome 4q duplication*
- Chromosome 5p deletion*
- Chromosome 5p duplication*
- Chromosome 5 Trisomy*
- Chromosome 5q deletion*
- Chromosome 5q duplication*
- Chromosome 6p deletion*
- Chromosome 6p duplication*
- Chromosome 6q deletion*
- Chromosome 6q duplication*
- Chromosome 6q25 microdeletion syndrome*
- Chromosome 7p deletion*
- Chromosome 7p duplication*
- Chromosome 7 Trisomy*
- Chromosome 7q deletion*
- Chromosome 7q duplication*
- Chromosome 8p deletion*
- Chromosome 8p duplication*
- Chromosome 8p23.1 deletion*
- Chromosome 8 Trisomy*
- Chromosome 8q deletion*
- Chromosome 8q duplication*
- Chromosome 9 inversion – Not a rare disease*
- Chromosome 9p deletion*
- Chromosome 9p duplication*
- Chromosome 9 Trisomy*
- Chromosome 9q deletion*
- Chromosome 9q duplication*
- Chromosome Xq duplication*
- Chromosome Xq28 deletion syndrome*
- Chronic granulomatous disorder*
- Chromic Mucocutaneous Candidiasis*
- Cleidocranial dysostosis*
- Cockayne syndrome*
- Coffin–Lowry syndrome*
- Cohen syndrome*
- collagenopathy, types II and XI*
- Color Blindness*
- Congenital insensitivity to pain with anhidrosis (CIPA)*
- Congenital intolerance to Fructose*
- Cori’s Disease, Glycogen Storage type III*
- Cornelia de Lange syndrome (CDLS)*
- Cowden syndrome*
- CPO deficiency (coproporphyria)*
- Cranio-lenticulo-sutural dysplasia*
- Cri-du-Chat Syndrome*
- Crohn’s disease*
- Crouzon syndrome*
- Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans)*
- Cystic fibrosis
- Darier’s disease*
- De Grouchy syndrome*
- Dent’s disease (Genetic hypercalciuria)*
- Denys–Drash syndrome*
- Diploid-triploid moaicism*
- Distal Chromosome 18q deletion Syndrome*
- Distal hereditary motor neuropathies, multiple types*
- Down Syndrome
- Dravet syndrome*
- Duchenne Muscular Dystrophy*
- Ectrodactyly cardiopathy dysmorphism*
- Edward’s Syndrome*
- Ehlers–Danlos syndrome*
- Emaual Syndrome*
- Emery–Dreifuss Syndrome*
- Erythropoietic protoporphyria*
- Fabry disease*
- Factor V Leiden thrombophilia*
- Familial adenomatous polyposis*
- Familial Creutzfeld–Jakob Disease*
- Familial dysautonomia*
- Familial hypercholesterolemia*
- Fanconi anemia (FA)*
- Fatal familial insomnia*
- Feingold syndrome*
- FG syndrome*
- Fragile X Syndrome*
- Friedreich’s ataxia*
- Harnup’s Disease*
- G6PD Deficiency*
- Galactosemia*
- Gaucher Disease*
- Gerstmann- Sträussler–Scheinker Syndrome*
- Gillespie syndrome*
- Glutaric aciduria*
- Glycolytic Enzyme Deficiencies*
- GRACILE syndrome*
- Griscelli syndrome*
- Haemochromatosis*
- Haemophilia*
- Hailey–Hailey Disease*
- Harlequin Type Ichthyosis*
- Harry Benjamin Syndrome*
- Hemochromatosis*
- Hemophilia*
- Hepatoerythropoietic porphyria*
- Hereditary coproporphyria*
- Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)*
- Hereditary inclusion body myopathy*
- Hereditary multiple exostoses*
- Hereditary neuropathy with liability to pressure palsies (HNPP)*
- Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis)*
- Hereditary Spherocystosis*
- Hermansky–Pudlak syndrome*
- Heterotaxy*
- Homocystinuria*
- Hunter syndrome*
- Huntington’s disease
- Hurler syndrome*
- Hutchinson–Gilford Progeria Syndrome*
- Hyperlysinemia*
- Hyperoxaluria*
- Hyperphenylalaninemia*
- Hypoalphalipoproteinemia (Tangier disease)*
- Hypochondrogenesis*
- Hypochondroplasia*
- Immunodeficiency–centromeric instability–facial anomalies syndrome (ICF syndrome)*
- Incontinentia pigmenti*
- Ischiopatellar dysplasia*
- Isodicentric 15
- Jackson–Weiss syndrome*
- Jacobsen Syndrome,11q deletion disorder*
- Job’s Syndrome*
- Joubert syndrome*
- Juvenile primary lateral sclerosis (JPLS)*
- Kartagener’s Syndrome*
- Keloid disorder*
- Kernicterus
- Kleefstra Syndrome*
- Klinefelter Syndrome*
- Kniest dysplasia*
- Koolen de Vries Syndrome*
- Kosaki Overgrowth Syndrome*
- Krabbe Disease*
- Kufor–Rakeb Syndrome
- Landau Kleffner Syndrome
- LCAT deficiency*
- Lesch–Nyhan Syndrome*
- Li–Fraumeni Syndrome*
- Lipoprotein Lipase Deficiency*
- Lynch Syndrome*
- Malignant Hyperthermia*
- Maple Syrup Urine Disease*
- Marfan Syndrome*
- Maroteaux–Lamy Syndrome*
- McArdle’s Disease, Glycogen Storage type V*
- McCune–Albright Syndrome*
- McLeod Syndrome*
- Mediterranean Fever*
- MEDNIK Syndrome*
- Menkes Disease*
- Methemoglobinemia*
- Methylmalonic acidemia*
- Micro syndrome*
- Microcephaly*
- Morquio syndrome*
- Mosaic monosomy 18*
- Mosaic monosomy 22*
- Mosaic trisomy 13*
- Mosaic trisomy 14*
- Mosaic trisomy 22*
- Mosaic trisomy 7*
- Mosaic trisomy 8*
- Mosaic trisomy 9*
- Mowat–Wilson Syndrome*
- Muenke Syndrome*
- Multiple endocrine neoplasia*
- Muscular dystrophy
- Myostatin-related Muscle Hypertrophy*
- Myotonic Dystrophy*
- Nablus Mask-like Facial Syndrome*
- Natowicz syndrome*
- Neurofibromatosis*
- Niemann–Pick disease*
- Nonketotic Hyperglycinemia*
- Nonsyndromic Deafness*
- Noonan Syndrome*
- Norman–Roberts Syndrome*
- Ogden Syndrome*
- Omenn Syndrome*
- Osteogenesis Imperfecta*
- Pallister Killian Mosaic Syndrome*
- Pantothenate Kinase-associated Neurodegeneration*
- Partial Deletion of Y*
- Patau Syndrome*
- PCC deficiency (propionic acidemia)*
- Pendred Syndrome*
- Peutz–Jeghers Syndrome*
- Pfeiffer Syndrome*
- Phenylketonuria (PKU)
- Pipecolic Acidemia*
- Pitt–Hopkins Syndrome
- Polycystic Kidney Disease*
- Polycystic ovary syndrome (PCOS)*
- Pompe’s Disease, Glycogen Storage Type II*
- Porphyria*
- Porphyria Cutanea Tarda (PCT)*
- Potocki-Shaffer Syndrome *
- Prader–Willi Syndrome
- Primary Ciliary Dyskinesia (PCD)*
- Primary Pulmonary Hypertension*
- Progeria Syndrome- Benjamin Button Disease*
- Protein C Deficiency*
- Protein S Deficiency*
- Proximal Chromosome 18q Deletion Syndrome*
- Pseudo-Gaucher Disease*
- Pseudoxanthoma Elasticum*
- Pyruvate Dehydrogenase Deficiency*
- Retinitis Pigmentosa*
- Rett Syndrome*
- Ring Chromosome 1*
- Ring chromosome 2*
- Ring chromosome 3*
- Ring chromosome 4*
- Ring chromosome 5*
- Ring chromosome 6*
- Ring chromosome 7*
- Ring chromosome 8*
- Ring chromosome 9*
- Ring chromosome 10*
- Ring chromosome 11*
- Ring chromosome 12*
- Ring chromosome 13*
- Ring chromosome 14*
- Ring chromosome 15*
- Ring chromosome 16*
- Ring chromosome 17*
- Ring chromosome 18*
- Ring chromosome 19*
- Ring chromosome 20*
- Ring chromosome 21*
- Ring chromosome 22*
- Roberts Syndrome*
- Rubinstein–Taybi Syndrome (RSTS)*
- Sandhoff Disease*
- Sanfilippo Syndrome*
- Schwartz–Jampel Syndrome*
- Selective IgA Deficiency*
- Severe combined Immunodeficiency (SCID)*
- Shprintzen–Goldberg Syndrome*
- Sickle Cell Anemia*
- Sickle Cell Disease*
- Siderius X-linked Mental Retardation Syndrome*
- Sideroblastic Anemia*
- Sly Syndrome*
- Smith–Lemli–Opitz Syndrome*
- Smith–Magenis Syndrome*
- Spinal Muscular Atrophy*
- Spinocerebellar Ataxia (types 1–29)*
- Spondyloepiphyseal Dysplasia Congenita (SED)*
- SSB Syndrome (SADDAN)*
- Stargardt Disease (macular degeneration)*
- Stickler Syndrome (multiple forms)*
- Strudwick Syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)*
- Tay–Sachs disease*
- Tetrahydrobiopterin deficiency*
- Tetrasomy 9p*
- Tetrasomy X*
- Thanatophoric Dysplasia*
- Treacher Collins Syndrome*
- Trisomy 16*
- Tuberous sclerosis complex (TSC)*
- Turner syndrome
- Usher Syndrome*
- Variegate Porphyria*
- Von Gierke’s Disease Glycogen Storage Type I*
- Von Hippel–Lindau Disease*
- Von Willebrand Disease*
- Waardenburg Syndrome*
- Weissenbacher–Zweymüller Syndrome*
- William’s Syndrome
- Wilson Disease
- Wiskott-Aldrich*
- Wolf–Hirschhorn Syndrome*
- Wolf-Hirschorn Syndrome, Deletion 4p syndrome*
- Woodhouse–Sakati syndrome*
- Xeroderma pigmentosum*
- X-Linked Agammaglobulinemia (Bruton’s Disease)*
- X-linked severe combined immunodeficiency (X-SCID)*
- X-linked sideroblastic anemia (XLSA)*
- X-linked spinal bulbar muscle atrophy (spinal and bulbar muscular atrophy)*
- Xp11.22 deletion*
- XXXX syndrome (48, XXXX)*
- XXXXX syndrome (49, XXXXX)*
- XYY syndrome (47,XYY)*
- Zellweger syndrome*
- Trisomy 17 mosaicism*
- Trisomy 2 mosaicism*
- X-linked susceptibility to autism-4*
- Y chromosome infertility*
- Y chromosome pericentric invesion*
*This page coming soon*
This Page is in Progress: please email the Webmaster if you want us to prioritize this information.
