A

• Achondroplasia
• Acrodysostosis
• Acrofacial dysostosis
• Acromelic frontonasal dysostosis
• Adams-Oliver syndrome
• Adrenaleukodystrophy
• Adrenomyeloneuropathy
• Agammaglobulinemia
• Aicardi-Goutieres syndrome
• Alagille
• Alpha Thalassemia Intellectual disability syndrome
• Alpha-methylacetoacetic aciduria
• Alport syndrome
• Alstrom
• Alveolar capillary dysplasia
• Angelman syndrome
• Antley-Bixler syndrome
• Aortic aneurysm
• Apert syndrome
• Arterial tortuosity syndrome
• Arthrogryposis
• Ataxia-telangiectasia
• ATR-16 syndrome
• Atypical hemolytic uremic syndrome
• Auriculocondylar syndrome
• Auto-inflammatory disease
• Autoimmune disorder
• Autoimmune disorder Lymphoproliferative syndrome

B

• Bainbridge-Ropers syndrome
• Bardet-Biedl syndrome
• Bart-Pumphrey syndrome
• Biotinidase deficiency
• Birt-Hogg-Dube syndrome
• Bohring-Opitz syndrome
• Borjeson-Forssman-Lehmann syndrome
• Brachydactyly
• Branchiootic
• Branchiootorenal
• Buschke-Ollendorff syndrome

C

• C syndrome
• CADASIL
• Cardiofaciocutaneous syndrome
• Carpenter syndrome
• Cat eye syndrome
• Cerebral creatine deficiency
• Cerebrocostomandibular syndrome
• Charcot-Marie-Tooth syndrome type 1A
• CHARGE syndrome
• Chitayat syndrome
• Cholestasis
• Cholestasis Gallbladder disease
• CHOPS syndrome
• Chronic granulomatous disease
• Citrullinemia
• Cohen syndrome
• Complement deficiency
• Comprehensive Pulmonary Vascular Disease
• Congenital bile acid synthesis defect
• Connective Tissue Disorders
• Contractural arachnodactyly
• Cornelia de Lange
• Craniofacial disorder
• Craniofrontonasal dysplasia
• Craniosynostosis
• Cri du Chat Syndrome
• Crouzon syndrome
• Cutis laxa
• Cystic fibrosis

D

• Deafness
• Demirhan type acromesomelic dysplasia
• Diabetes mellitus
• Diarrhea
• DiGeorge syndrome
• Dubin-Johnson syndrome
• Dystonia

E

• Early infantile epileptic encephalopathy
• Ehlers-Danlos syndrome
• Ellis-van Creveld syndrome
• Emberger syndrome
• Epilepsy
• Epilepsy Seizures

F

• Familial hypercholanemia
• Familial thoracic aortic aneurysm
• Fanconi-Bickel syndrome
• Feingold syndrome
• Fever
• Fibrochondrogenesis
• Fragile X
• Frontonasal dysplasia
• Fructose-1 6-bisphosphatase deficiency

G

• Galactokinase deficiency
• Galactosemia
• Glucose galactose malabsorption
• GLUT1 deficiency
• Glycogen storage disease
• Glycogen storage disease IIIb
• Greig cephalopolysyndactyly syndrome

H

• Hearing loss
• Hereditary hemorrhagic telangiectasia
• Hereditary Liability to Pressure Palsies
• Homocystinuria
• Hydranencephaly with abnormal genitalia
• Hyperbilirubinemia
• Hypercholesterolemia
• Hyperhomocysteinemic
• Hyperinsulinemic hypoglycemia
• Hyperinsulinism
• Hyperparathyrdism
• hypertension
• Hypobetalipoproteinemia
• Hypocalcemia
• Hypocalciuric hypercalcemia
• Hypogonadotropic hypogonadism
• Hypophosphatasia

I

• Immunodeficiency
• Immunodeficiency with hyper-IgM type 2
• Intellectual disability
• Intellectual disability-hypotonic facies syndrome
• intellectual disabillity

J

• Joubert syndrome

K

• Kabuki syndrome
• KBG syndrome
• Ketotic Hypoglycemia
• Kleefstra syndrome
• Koolen de Vries syndrome
• Kyphoscoliosis

L

• Langer mesomelic dysplasia
• Legius syndrome
• Leopard syndrome
• Leri-Weill dyschondrosteosis
• Loeys-Dietz syndrome
• Lung disease
• Luscan-Lumish syndrome
• Lymphoproliferative
• Lymphoproliferative syndrome
• Lysinuric protein intolerance

M

• Macular degeneration
• Mandibulofacial dysostosis
• Maple syrup urine disease
• Marfan syndrome
• Marshall syndrome
• Maturity onset diabetes of the young
• McCune-Albright syndrome
• Mental retardation
• Miller syndrome
• Miller-Dieker syndrome
• Mitochondrial DNA depletion syndrome
• Mowat-Wilson syndrome
• MSUD
• Multiple joint dislocations and short stature and Craniofacial disorder dysmorphism with or without congenital heart defects
• Multisystemic smooth muscle dysfunction syndrome
• Myelodysplastic syndrome
• Myelokathexis

N

• Neonatal respiratory distress
• Nephronophthisis
• Neurodegeneration
• Neutopenia
• Niemann-Pick disease
• Noonan syndrome

O

• Obesity
• Odontohypophosphatasia
• Omenn syndrome
• Opitz GBBB syndrome
• Osteogenesis imperfecta
• Osteolysis
• Osteopathia striata
• Osteopetrosis

P

• Pancreatitis
• Parietal foramina
• Partial adenosine deaminase deficiency
• Partington syndrome
• Pfeiffer syndrome
• Phelan-Mcdermid syndrome
• Phenylketonuria
• Pitt-Hopkins like syndrome
• PKU
• Pneumothorax
• Polyarteritis nodosa
• Potocki-Lupski syndrome
• Potocki-Shaffer syndrome
• Prader-Willi syndrome
• Primary ciliary dyskinesia
• Proud syndrome
• proximal 11p deletion syndrome
• Pulmonary
• Pulmonary disease
• Pulmonary hypertension
• Pulmonary surfactant metabolism dysfunction
• Pulmonary Vascular
• Pulmonary vascular disease
• Pulmonary venoocclusive disease
• Pyncnodysostosis
• Pyroxidine-dependent Epilepsy

R

• Raine syndrome
• Renal cysts and diabetes (RCAD)
• Rett syndrome
• Rett syndrome variant
• Rubinstein Taybi syndrome

S

• Saethre-Chotzen syndrome
• Schaaf-Yang syndrome
• Schuurs-Hoeijmakers syndrome
• Seizures
• Severe combined immunodeficiency
• Severe combined immunodeficiency due to ADA deficiency
• short stature
• Shprintzen Goldberg
• Sideroblastic anemia
• Smith-McGinnis
• Spinal Muscular Atrophy
• Stickler syndrome
• Sucrase isomaltase deficiency

T

• Thrombocytopenia
• Townes-Brocks syndrome
• Treacher Collins syndrome
• Trichohepatoenteric syndrome

V

• Vascular disease
• Vascular lung disease
• Velocardiofacial syndrome

W

• Waardenburg syndrome
• WAGR syndrome
• Weyers acrofacial dysostosis
• WHIM syndrome
• Williams syndrome
• Wolf-Hirschhorn Syndrome

X

• X-linked Intellectual disability
• X-linked lissencephaly

1

• 12p13.33 Microdeletion Syndrome
• 12q14 microdeletion syndrome
• 15q13.3 microdeletion syndrome
• 15q24 recurrent microdeletion syndrome
• 15q26 overgrowth syndrome
• 16p11.2 microduplication syndrome
• 16p11.2-p12.2 microdeletion syndrome
• 16p11.2-p12.2 microduplication syndrome
• 17p11.2 duplication syndrome
• 17p13.3 deletion syndrome
• 17q21.31 recurrent microdeletion syndrome
• 1p36 microdeletion syndrome

2

• 22q11 duplication syndrome
• 22q11.2 deletion syndrome
• 22q11.2 distal deletion syndrome
• 22q13 Deletion Syndrome
• 2p15-16.1 microdeletion syndrome
• 2p21 Microdeletion Syndrome
• 2q33.1 deletion syndrome
• 2q37 deletion syndrome
• 2q37 monosomy

3

• 3q29 microdeletion syndrome
• 3q29 microduplication syndrome

5

• 5p- syndrome