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Diagnosis Tool

Here you can find clear information about individual diagnoses and connect with people who share similar experiences.

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1

1p36 deletion syndrome

17p13.3 Microduplication syndrome
2

2q13 microdeletion
A

Aagenaes syndrome

Aarskog syndrome

ABCD syndrome

Achard syndrome

Achondroplasia

ADHD

Aicardi syndrome

Alagille syndrome

Albers-Schönberg disease

Alström syndrome

Albinism

Alport syndrome

Amyotrophic lateral sclerosis

Anemia

Aneuploidy

Angelman syndrome

Antley-Bixler syndrome

Apert syndrome

Asperger Syndrome

ATR-x syndrome

Ayazi syndrome

Androgen Insensitivity Syndrome

Axenfeld-Rieger syndrome

Alpha-mannosidosis

Ataxia-Telangiectasia

Alpha-1 antitrypsin deficiency

Autism Spectrum Disorder (ASD)
B

Bangstad syndrome

Barakat syndrome

Bartter syndrome

Bazex syndrome

Beckwith-Wiedemann syndrome

Behr syndrome

Benjamin syndrome

Berdon syndrome

Bloom syndrome

Brachyphalangy

Branchio-oto-renal syndrome

Brunner syndrome

Burnside Butler syndrome

Buschke-Ollendorff syndrome
C

Cri Du Chat syndrome

Carney complex

Carpenter syndrome

Catel-Manzke syndrome

CDLK5 deficiency disorder

Chediak-Higashi syndrome

Cockayne syndrome

Coffin Siris syndrome

Conradi-Hünermann syndrome

Cornelia de Lange syndrome

Cowden syndrome

Crigler-Najjar syndrome

Crouzon syndrome

Cystic fibrosis

Color blindness

Caroli disease

cleft spine

cat-eye syndrome

Cerebral Palsy

Chromosome 8p23.1 deletion

craniofrontonasal dysplasia

Congenital Myasthenic Syndrome

Campomelic syndrome
D

Dandy-Walker syndrome

De Grounch syndrome

Denis-Drash syndrome

diastrophic dwarfism

DiGeorge syndorme

Donohue syndrome

Down syndrome

Dravet syndrome

Dubin-Johnson syndrome

Dubowitz syndrome

Duchenne muscular dystrophy

Duplication Xq13.2–q21.1
E

Edwards Syndrome

Ehlers-Danlos Syndrome

Ellis Van Creveld syndrome

Erondu-Cymet syndrome

Exner syndrome

endsds
F

Fabry disease

Familial adenomatous polyposis

familiar mediterranean fever

fatal familiar insomnia

Feingold syndrome

Følling disease

FG syndrome, type 1

Flynn – Aird syndrome

Fountain syndrome

Frank- ter Haar syndrome

Fraser syndrome

Freeman – Sheldon syndrome

Fragile x syndrome
G

Galloway- Mowat syndrome

GAPO syndrome

Gardner syndrome

Gaucher's disease

Gilbert syndrome

Gillespie syndrome

Goldenhar syndrome

Gorlin-Goltz syndrome

Gorlin syndrome II

Griscelli syndrome

Guillain–Bare syndrome

Gynadria

Glass syndrome
H

Hereditary angioedema

Harlequin Ichthyosis

Hemophilia

Hermansky Pudlak syndrome

Hirschsprung's disease

Huntington's disease
I

Ivermark syndrome

Inborn errors of metabolism
J

Jarcho–Levin dysplasia

Jeune syndrome

Joubert syndrome
K

Kabuki syndrome

Kallmann syndrome

Kartagener syndrome

Klinefelter syndrome

Klippel-Feil syndrome

Kohlmeier-Degos disease

Kostmann disease

KMT2B-related dystonia
L

Laron syndrome

Larsen syndrome

Leiden mutation

Li-Fraumeni syndrome

Lynch syndrome

lissencephaly type I

Leigh syndrome
M

Menkens disease

Marfan syndrome

Martorell syndrome

Metaphyseal chondrodysplasia, McKusick type

McCune-Albright syndrome

metatropic dwarfism

Miller-Dieker syndrome

Moebius syndrome

mucopolysaccharidosis

Mowat-Wilson syndrome

Monosomy 18p

Mucopolysaccharidosis type II
N

neurofibromatosis

Noonan syndrome

Nonketotic hyperglycinemia
O

Osler–Weber–Rendu syndrome

Osteogenesis Imperfecta

Orbeli syndrome

OPHN1 syndrome
P

Patau syndrome

Pectus Carinatum

Pectus Excavatum

Pelizaeus-Merzbacher disease

Pendred syndrome

Peutz-Jeghers syndrome

Phelan- McDermid syndrome

Pierre-Robin syndrome

Poland syndrome

Polydactyly

Pompe disease

Prader–Willi Syndrome

progeriu

Proteus syndrome

Popliteal pterygium syndrome

pyknodysostosis

Potter syndrome

primary ciliary dyskinesia
R

Rett Syndrome

Rothmund-Thomson syndrome

Roussy Lévy syndrome
S

SCID

Schwartz-Jampel syndrome type I

Schwartz-Jampel syndrome type II

Shpritzen Goldberg syndrome

Silver-Russell syndrome

Sipple syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Sotos syndrome

Spinal muscular atrophy

Stickler syndrome

Stüve-Wiedemann syndrome

super-man syndrome

Sjögren's syndrome
T

Tay-Sachs disease

thalassemia

Tarlov cyst

thanatoforic dwarfism

Toriello-Carey syndrome

Tourette syndrome

Treacher Collins syndrome

trisomy 20p

Turner syndrome

Triple X syndrome
U

Urbach-Wiethe syndrome

UPF3B-related syndrome

Usher syndrome
V

Van der Wounde syndrome

von Hippel-Lindau disease
W

werewolf syndrome

Willebrand disease

Warburg Micro syndrome

Wermer syndrome

Williams syndrome

Willson disease

Wiskottov-Aldrich syndrome

Wolf-Hirschhorn syndrome
X

XXXX syndrome

XXYY syndrome
Y

yellow nail syndrome
Z

Zellweger syndrome

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