Condition library · 644 conditions
Clinical Genetics conditions
Inherited and chromosomal conditions, most of them rare, usually assessed by a clinical geneticist.
The Doctor Index does not list this speciality yet. A family physician or paediatrician can assess and refer.
All clinical genetics conditions
0–9
- 10q26 deletion syndrome
- 12q14 microdeletion syndrome
- 15q11-q13 duplication syndrome
- 15q11.2 microdeletion syndrome
- 15q13.3 microdeletion
- 15q24 microdeletion
- 16p11.2 deletion syndrome
- 16p11.2 duplication
- 16p12.2 microdeletion
- 17 alpha-hydroxylase/17,20-lyase deficiency
- 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 17q12 deletion syndrome
- 17q12 duplication
- 17q24.2 microdeletion syndrome
- 19p13.13 deletion syndrome
- 1p36 deletion syndrome
- 1q21.1 microdeletion
- 1q21.1 microduplication
- 2-hydroxyglutaric aciduria
- 21-hydroxylase deficiency
- 21q22.11q22.12 microdeletion syndrome
- 22q11.2 deletion syndrome
- 22q11.2 duplication
- 22q13.3 deletion syndrome
- 2q37 deletion syndrome
- 3-beta-hydroxysteroid dehydrogenase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3MC syndrome
- 3p deletion syndrome
- 3q29 microdeletion syndrome
- 3q29 microduplication syndrome
- 46,XX testicular difference of sex development
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 47,XYY syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- 49,XXXXY syndrome
- 5-alpha reductase deficiency
- 5q minus syndrome
- 5q31.3 microdeletion syndrome
- 6q terminal deletion syndrome
- 7q11.23 duplication syndrome
- 8p11 myeloproliferative syndrome
- 8q24.3 microdeletion syndrome
- 9q22.3 microdeletion
- 9q33.3q34.11 microdeletion syndrome
A
- Aarskog-Scott syndrome
- Abdominal wall defect
- Acrocallosal syndrome
- Actin-accumulation myopathy
- Activated PI3K-delta syndrome
- Adams-Oliver syndrome
- Adenosine deaminase deficiency
- Adermatoglyphia
- Age-related hearing loss
- Aicardi syndrome
- Alagille syndrome
- Aldosterone-producing adenoma
- ALG1-congenital disorder of glycosylation
- ALG12-congenital disorder of glycosylation
- ALG6-congenital disorder of glycosylation
- Alopecia areata
- Alström syndrome
- Amish lethal microcephaly
- Androgen insensitivity syndrome
- Androgenetic alopecia
- ANE syndrome
- Anhidrotic ectodermal dysplasia with immune deficiency
- Aniridia
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Ankyrin-B syndrome
- Anonychia congenita
- Anophthalmia/Microphthalmia
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Apert syndrome
- Arginine:glycine amidinotransferase deficiency
- Arts syndrome
- Asphyxiating thoracic dystrophy
- Atopic dermatitis
- Au-Kline syndrome
- Auriculocondylar syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- Autosomal dominant congenital stationary night blindness
- Autosomal dominant hyper-IgE syndrome
- Autosomal dominant leukodystrophy with autonomic disease
- Autosomal recessive congenital methemoglobinemia
- Autosomal recessive congenital stationary night blindness
- Autosomal recessive hypotrichosis
- Autosomal recessive primary microcephaly
- Axenfeld-Rieger syndrome
B
- Bainbridge-Ropers syndrome
- Baller-Gerold syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- BAP1 tumor predisposition syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Baraitser-Winter syndrome
- Bardet-Biedl syndrome
- Bare lymphocyte syndrome type I
- Bare lymphocyte syndrome type II
- Beare-Stevenson cutis gyrata syndrome
- Beckwith-Wiedemann syndrome
- Benign essential blepharospasm
- Blepharocheilodontic syndrome
- Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Bloom syndrome
- Bohring-Opitz syndrome
- Bosma arhinia microphthalmia syndrome
- Boucher-Neuhäuser syndrome
- Bowen-Conradi syndrome
- Brain-lung-thyroid syndrome
- Branchio-oculo-facial syndrome
- Branchioskeletogenital syndrome
- Bunion
- Burn-McKeown syndrome
- Buschke-Ollendorff syndrome
C
- Cantú syndrome
- Capillary malformation-arteriovenous malformation syndrome
- Carbonic anhydrase VA deficiency
- Cardiofaciocutaneous syndrome
- Carey-Fineman-Ziter syndrome
- Carnitine palmitoyltransferase I deficiency
- Carpenter syndrome
- CASK-related intellectual disability
- Caudal regression syndrome
- CAV3-related distal myopathy
- Central precocious puberty
- Centronuclear myopathy
- Cerebral cavernous malformation
- Cerebro-facio-thoracic dysplasia
- Cerebrofacioarticular syndrome
- Channelopathy-associated congenital insensitivity to pain
- Char syndrome
- CHARGE syndrome
- CHILD syndrome
- Childhood myocerebrohepatopathy spectrum
- CHOPS syndrome
- Christianson syndrome
- Citrullinemia
- CK syndrome
- Classical Ehlers-Danlos syndrome
- Clopidogrel resistance
- Clouston syndrome
- CLPB deficiency
- Cockayne syndrome
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- COG5-congenital disorder of glycosylation
- Cohen syndrome
- COL4A1-related brain small-vessel disease
- Collagen VI-related dystrophy
- Coloboma
- Color vision deficiency
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Combined immunodeficiency-multiple intestinal atresia
- Combined oxidative phosphorylation deficiency 1
- Common variable immune deficiency
- Complement component 2 deficiency
- Complement component 8 deficiency
- Complement factor I deficiency
- Complete plasminogen activator inhibitor 1 deficiency
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital afibrinogenemia
- Congenital bilateral absence of the vas deferens
- Congenital contractural arachnodactyly
- Congenital deafness with labyrinthine aplasia, microtia, and microdontia
- Congenital diaphragmatic hernia
- Congenital fiber-type disproportion
- Congenital fibrosis of the extraocular muscles
- Congenital hepatic fibrosis
- Congenital hyperinsulinism
- Congenital leptin deficiency
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- Congenital mirror movement disorder
- Congenital nephrotic syndrome
- Congenital plasminogen deficiency
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Cornelia de Lange syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Corticosterone methyloxidase deficiency
- Costello syndrome
- Cowden syndrome
- Cranioectodermal dysplasia
- Craniofacial microsomia
- Craniofacial-deafness-hand syndrome
- Craniofrontonasal syndrome
- Craniolenticulosutural dysplasia
- Cri-du-chat syndrome
- Crouzon syndrome
- Crouzon syndrome with acanthosis nigricans
- CUL3-related neurodevelopmental disorder
- Cutis laxa
- Cyclic vomiting syndrome
- Cytochrome c oxidase deficiency
- Cytochrome P450 oxidoreductase deficiency
D
- D-bifunctional protein deficiency
- Dandy-Walker malformation
- Deafness and myopia syndrome
- Deafness-dystonia-optic neuronopathy syndrome
- Deoxyguanosine kinase deficiency
- DICER1 syndrome
- Distal 18q deletion syndrome
- Distal 22q11.2 microdeletion syndrome
- Distal arthrogryposis type 1
- Distal myopathy 2
- DLG4-related synaptopathy
- DNMT3A overgrowth syndrome
- DOLK-congenital disorder of glycosylation
- Donnai-Barrow syndrome
- DOORS syndrome
- Down Syndrome
- Duane-radial ray syndrome
- Dupuytren contracture
- Dystrophic epidermolysis bullosa
E
F
- Factor V deficiency
- Factor V Leiden thrombophilia
- Factor VII deficiency
- Factor X deficiency
- Factor XI deficiency
- Factor XIII deficiency
- Familial candidiasis
- Familial erythrocytosis
- Familial HDL deficiency
- Familial hyperaldosteronism
- Familial hypercholesterolemia
- Familial hypobetalipoproteinemia
- Familial male-limited precocious puberty
- Familial partial lipodystrophy
- Familial pityriasis rubra pilaris
- Familial porencephaly
- Fanconi anemia
- Farsightedness
- Feingold syndrome
- Fetal Alcohol Spectrum Disorders
- FG syndrome
- Floating-Harbor syndrome
- Focal dermal hypoplasia
- FOXP2-related speech and language disorder
- Fragile X Syndrome
- Fragile XE syndrome
- Fraser syndrome
- Freeman-Sheldon syndrome
- Frontonasal dysplasia
- Fryns syndrome
- Fuchs endothelial dystrophy
- Fukuyama congenital muscular dystrophy
G
- Genitopatellar syndrome
- Giant congenital melanocytic nevus
- Gilbert syndrome
- Gillespie syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Globozoospermia
- Glucose phosphate isomerase deficiency
- Glucose-6-phosphate dehydrogenase deficiency
- GLUT1 deficiency syndrome
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glycogen storage disease type 0
- Glycogen storage disease type IX
- Glycoprotein VI deficiency
- GM2 activator deficiency
- Gorlin syndrome
- Grange syndrome
- Graves' disease
- Greig cephalopolysyndactyly syndrome
- GRN-related frontotemporal lobar degeneration
H
- Hallermann-Streiff syndrome
- Hand-foot-genital syndrome
- Hartsfield syndrome
- Hashimoto's disease
- Hemimegalencephaly
- Hennekam syndrome
- Hepatic lipase deficiency
- Hepatic veno-occlusive disease with immunodeficiency
- Hereditary angioedema
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary antithrombin deficiency
- Hereditary hemorrhagic telangiectasia
- Hereditary multiple osteochondromas
- Hereditary neuralgic amyotrophy
- Heterotaxy syndrome
- Histiocytosis-lymphadenopathy plus syndrome
- Holt-Oram syndrome
- Homocystinuria
- Horner syndrome
- Hutchinson-Gilford progeria syndrome
- Hypermethioninemia
- Hyperphosphatemic familial tumoral calcinosis
- Hyperprolinemia
- Hypertension
- Hypohidrotic ectodermal dysplasia
- Hypomagnesemia with secondary hypocalcemia
- Hystrix-like ichthyosis with deafness
I
- Idiopathic inflammatory myopathy
- IMAGe syndrome
- Inherited thyroxine-binding globulin deficiency
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Intervertebral disc disease
- Intestinal pseudo-obstruction
- Intranuclear rod myopathy
- IRAK-4 deficiency
- Isolated congenital asplenia
- Isolated Duane retraction syndrome
- Isolated growth hormone deficiency
- Isolated hyperCKemia
- Isolated Pierre Robin sequence
J
K
- Kabuki syndrome
- Kaufman oculocerebrofacial syndrome
- KBG syndrome
- KCNK9 imprinting syndrome
- Keratitis-ichthyosis-deafness syndrome
- Keratoconus
- Keratoderma with woolly hair
- Kleefstra syndrome
- Klinefelter Syndrome
- Klippel-Feil syndrome
- Klippel-Trenaunay syndrome
- Knobloch syndrome
- Koolen-de Vries syndrome
- Kuskokwim syndrome
L
M
- Mabry syndrome
- Macrocephaly-developmental delay syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Macrozoospermia
- Mainzer-Saldino syndrome
- Malignant hyperthermia
- Mandibulofacial dysostosis with microcephaly
- Manitoba oculotrichoanal syndrome
- Mannose-binding lectin deficiency
- Mayer-Rokitansky-Küster-Hauser syndrome
- MBD5-associated neurodevelopmental disorder
- McKusick-Kaufman syndrome
- MDA5 deficiency
- Meckel syndrome
- MECP2 duplication syndrome
- MED13L syndrome
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- Megalencephaly-capillary malformation syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Meier-Gorlin syndrome
- Meige disease
- Menke-Hennekam syndrome
- Methemoglobinemia, beta-globin type
- Methylmalonic acidemia
- Microcephaly-capillary malformation syndrome
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
- Microphthalmia with linear skin defects syndrome
- Microphthalmia, Lenz type
- Miller syndrome
- Miller-Dieker syndrome
- Milroy disease
- Mitochondrial complex I deficiency
- Mitochondrial complex III deficiency
- Mitochondrial complex V deficiency
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Moebius syndrome
- Molybdenum cofactor deficiency
- Monosomy 13q14 syndrome
- Mosaic variegated aneuploidy syndrome
- Motion Sickness
- Mowat-Wilson syndrome
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Mucolipidosis II alpha/beta
- Mucolipidosis III alpha/beta
- Mucolipidosis III gamma
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Muenke syndrome
- Multicentric osteolysis, nodulosis, and arthropathy
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple cutaneous and mucosal venous malformations
- Multiple endocrine neoplasia
- Multiple epiphyseal dysplasia
- Multiple familial trichoepithelioma
- Multiple mitochondrial dysfunctions syndrome
- Multiple pterygium syndrome
- MUTYH-associated polyposis
- Mycosis fungoides
- MyD88 deficiency
- Myhre syndrome
- Myofibrillar myopathy
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme
- Myostatin-related muscle hypertrophy
- Myotonic dystrophy
- Müllerian aplasia and hyperandrogenism
N
- N-acetylglutamate synthase deficiency
- Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
- Nager syndrome
- Nail-patella syndrome
- Nakajo-Nishimura syndrome
- Narcolepsy
- Nearsightedness
- Nemaline myopathy
- Neurofibromatosis type 2
- NGLY1-congenital disorder of deglycosylation
- Nicolaides-Baraitser syndrome
- Niemann-Pick disease
- Nijmegen breakage syndrome
- Nonsyndromic aplasia cutis congenita
- Nonsyndromic congenital nail disorder 10
- Nonsyndromic hearing loss
- Nonsyndromic paraganglioma
- Noonan syndrome
- Noonan syndrome with multiple lentigines
- Norrie disease
O
- Ochoa syndrome
- Ocular albinism
- Oculocutaneous albinism
- Oculodentodigital dysplasia
- Oculoectodermal syndrome
- Oculofaciocardiodental syndrome
- Ohdo syndrome, Maat-Kievit-Brunner type
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- Ophthalmo-acromelic syndrome
- Opioid addiction
- Opitz G/BBB syndrome
- Oral-facial-digital syndrome
- Orthostatic hypotension
- Osteoglophonic dysplasia
- Osteopetrosis
- Otospondylomegaepiphyseal dysplasia
P
- PACS1 syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Palmoplantar keratoderma with deafness
- Parkes Weber syndrome
- Partington syndrome
- Pelizaeus-Merzbacher-like disease type 1
- Periventricular heterotopia
- Perrault syndrome
- Persistent Müllerian duct syndrome
- Peters anomaly
- Peters plus syndrome
- Pfeiffer syndrome
- PGM3-congenital disorder of glycosylation
- Phocomelia, Schinzel type
- Phosphoglycerate dehydrogenase deficiency
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Pierpont syndrome
- Pitt-Hopkins syndrome
- PMM2-congenital disorder of glycosylation
- Pol III-related leukodystrophy
- Poland syndrome
- Polymicrogyria
- Pontocerebellar hypoplasia
- Popliteal pterygium syndrome
- Potassium-aggravated myotonia
- Potocki-Lupski syndrome
- Potocki-Shaffer syndrome
- PPM-X syndrome
- PPP2R5D-related intellectual disability
- Prader-Willi Syndrome
- Prekallikrein deficiency
- Primary carnitine deficiency
- Primary coenzyme Q10 deficiency
- Primary localized cutaneous amyloidosis
- Primary spontaneous pneumothorax
- Prion disease
- Progressive external ophthalmoplegia
- Proopiomelanocortin deficiency
- Protein C deficiency
- Protein S deficiency
- Proteus syndrome
- Prothrombin thrombophilia
- Proximal 18q deletion syndrome
- Pseudocholinesterase deficiency
- PURA syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Pyruvate kinase deficiency
R
- RAB18 deficiency
- RAPADILINO syndrome
- Recombinant 8 syndrome
- Recurrent hydatidiform mole
- Refsum disease
- Renal coloboma syndrome
- Renal tubular dysgenesis
- Renal-hepatic-pancreatic dysplasia
- Renpenning syndrome
- Retroperitoneal fibrosis
- Riboflavin transporter deficiency neuronopathy
- RIN2 syndrome
- Ring chromosome 14 syndrome
- Ring chromosome 20 syndrome
- Roberts syndrome
- Robinow syndrome
- Romano-Ward syndrome
- Rothmund-Thomson syndrome
- Rubinstein-Taybi syndrome
S
- Saethre-Chotzen syndrome
- Sanjad-Sakati syndrome
- SATB2-associated syndrome
- Saul-Wilson syndrome
- Scalp-ear-nipple syndrome
- Schinzel-Giedion syndrome
- Schizoaffective disorder
- Schwannomatosis
- Senior-Løken syndrome
- Septo-optic dysplasia
- Severe congenital neutropenia
- Sheldon-Hall syndrome
- Short QT syndrome
- Shprintzen-Goldberg syndrome
- Sialidosis
- Sick sinus syndrome
- Silver-Russell syndrome
- Simpson-Golabi-Behmel syndrome
- SLC35A2-congenital disorder of glycosylation
- Smith-Kingsmore syndrome
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Snijders Blok-Campeau syndrome
- Snyder-Robinson syndrome
- SOST-related sclerosing bone dysplasia
- Sotos syndrome
- Spastic paraplegia type 11
- Spastic paraplegia type 15
- Spastic paraplegia type 31
- Spastic paraplegia type 3A
- Spastic paraplegia type 4
- Spastic paraplegia type 49
- Spastic paraplegia type 5A
- Spastic paraplegia type 8
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spondylocarpotarsal synostosis syndrome
- Spondylocostal dysostosis
- Spondyloenchondrodysplasia with immune dysregulation
- Spondyloepiphyseal dysplasia with marked metaphyseal changes
- Spondyloperipheral dysplasia
- Spondylothoracic dysostosis
- STAC3 disorder
- Stevens-Johnson syndrome/toxic epidermal necrolysis
- Sturge-Weber syndrome
- Subcortical band heterotopia
- SUCLA2-related mitochondrial DNA depletion syndrome
- SUCLG1-related mitochondrial DNA depletion syndrome
- Sudden infant death with dysgenesis of the testes syndrome
- Supravalvular aortic stenosis
- Surfactant dysfunction
- Swyer syndrome
- SYNGAP1-related intellectual disability
- Systemic mastocytosis
T
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- TARP syndrome
- Tarsal-carpal coalition syndrome
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- Tetra-amelia syndrome
- Tetrahydrobiopterin deficiency
- Tetrasomy 18p
- Thiopurine S-methyltransferase deficiency
- Thrombocytopenia-absent radius syndrome
- Tietz syndrome
- TK2-related mitochondrial DNA depletion syndrome, myopathic form
- Townes-Brocks Syndrome
- Transcobalamin deficiency
- Treacher Collins syndrome
- Trichorhinophalangeal syndrome type I
- Trichorhinophalangeal syndrome type II
- Trichothiodystrophy
- Trimethylaminuria
- Trisomy 13
- Trisomy 18
- Trisomy X
- TRNT1 deficiency
- TUBB4A-related leukodystrophy
- Tuberous Sclerosis
- Tumor necrosis factor receptor-associated periodic syndrome
- Turner Syndrome
- Type A insulin resistance syndrome
- Tyrosinemia
U
V
W
- Waardenburg syndrome
- Wagner syndrome
- WAGR syndrome
- Walker-Warburg syndrome
- Warfarin resistance
- Warfarin sensitivity
- Warsaw breakage syndrome
- Weaver syndrome
- Weill-Marchesani syndrome
- Weissenbacher-Zweymüller syndrome
- Werner syndrome
- Weyers acrofacial dysostosis
- White-Sutton syndrome
- Wiedemann-Rautenstrauch syndrome
- Williams syndrome
- Winchester syndrome
- Wolf-Hirschhorn syndrome
X
- X-linked cardiac valvular dysplasia
- X-linked chondrodysplasia punctata 1
- X-linked chondrodysplasia punctata 2
- X-linked congenital stationary night blindness
- X-linked creatine deficiency
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- X-linked infantile nystagmus
- X-linked intellectual disability, Nascimento type
- X-linked intellectual disability, Siderius type
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- X-linked lissencephaly with abnormal genitalia
- X-linked lymphoproliferative disease
- X-linked severe combined immunodeficiency
- X-linked spondyloepiphyseal dysplasia tarda
- X-linked thrombocytopenia