Conditions Observed

Auditory system

Non-syndromic deafness
Sudden Deafness Syndrome
Usher Syndrome

Breast cancer

Breast Neoplasm (Family)


BAP1 – Tumor Predisposition Syndrome
Colorectal Neoplasm (Family)
Cowden’s Syndrome
Hereditary Cancer Predisposition Syndrome
Hereditary Tyrosinemia Type 1
Li-Fraumeni Syndrome
Lynch Syndrome
Tumor predisposition syndrome (BAP1)


Brugada Syndrome
Familial Hyperlipoproteinemia Type III
Familial Hypertrophic Cardiomyopathy
Jervell and Lange-Nielsen Syndrome
Progressive Familial Heart Block
Romano-Ward Syndrome
Sinus Nodule Syndrome


MODY Type 3 Diabetes
MODY Type 4 Diabetes
MODY Type 5 Diabetes
MODY Type 6 Diabetes
MODY Type Diabetes

Digestive system

Alagille Syndrome (Arteriohepatic Dysplasia)
Congenital Lactase Deficiency
Congenital diarrhea
Cystic fibrosis
Dubin-Johnson Syndrome
Familial Intrahepatic Cholestasis
Family diarrhea
Irritable Bowel Syndrome
Juvenile Polyposis Syndrome
Trichohepatoenteric Syndrome (THE)
Type 1 Progressive Intrahepatic Cholestasis
Type 2 Progressive Intrahepatic Cholestasis
Type 3 Progressive Intrahepatic Cholestasis
Type 4 Progressive Intrahepatic Cholestasis


Williams Syndrome

Genetic diseases

Alpha Antitrypsin Deficiency (AAT)
Alpha-1 Antitrypsin Deficiency
Alport’s Syndrome
Angelman Syndrome
Axenfeld Rieger Syndrome
Bardet-Biedl Syndrome
Berardinelli-Seip Syndrome
Blau’s Syndrome
Blepharophimosis Syndrome
Bloom Syndrome
Branched Chain Amino Acid Dehydrogenase Kinase Deficiency
Cardio-facio-cutaneous syndrome
Carpenter’s Syndrome
Cat’s Eye Syndrome
Char syndrome
Cockayne’s Syndrome
Cohen’s Syndrome
Costello Syndrome
Doors Syndrome
Down’s syndrome
Ellis Van Creveld Syndrome
Epilepsy Responsive to pyridoxine
Fabry disease
Familial Adenomatous Polyposis
Familial Amyloidotic Polyneuropathy (FAP)
Familial Dysautonomy (Riley-Day Syndrome)
Familial Glucocorticoid Deficiency (DFG)
Familial cold autoinflammatory syndrome (FCAS)
Familial hypobetalipoproteinemia
Family Mediterranean Fever
Family Periodic Fever
Hereditary Breast and Ovary Cancer Syndrome
Hereditary angioedema
Hermansky-Pudlak Syndrome – 1
Hermansky-Pudlak Syndrome – 4
Hermansky-Pudlak Syndrome – 6
Hurler’s Syndrome
Hyperimmunoglobulin E (Hyper IgE) Syndrome
Hyperornithinemia-Hyperammonemia-Homocitrulinuria Syndrome
Hypohydrotic Ectodermal Dysplasia
Joubert Syndrome
Kabuki Syndrome
Kindler Syndrome
Ligase 4 Deficiency Syndrome (LIG4)
Lucey-Driscoll Syndrome
Maple Syrup Urine Disease (Leucinosis)
Marfan syndrome
Metachromatic leukodystrophy
Miller-Dieker Syndrome
Morquio Syndrome
Mucolipidosis Type 4 (Gangliosidosis)
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IVA
Multiple Sulphatase Deficiency (Austin’s Disease)
Noonan’s Syndrome
PANDAS Syndrome
PTEN Tumor Hamartoma Syndrome
Pfeiffer’s Syndrome
Phelan-McDermid Syndrome
Pigment Incontinence Syndrome
Pontocerebellar Hypoplasia
Prader-Willi Syndrome
Primary Hyperoxaluria
Proteus Syndrome
Pseudo Arisulfatase A Deficiency
Rett Syndrome
Salla’s disease
Schaaf-Yang Syndrome
Schwartz Jampel Syndrome Type 1
Seckel’s Syndrome
Selective IgA Deficiency
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Townes Syndrome
Transthyretin-mediated Hereditary Amyloidosis (TTR)
Treacher-Collins Syndrome
Tuberous Sclerosis
Type 0B Glycogenosis
Type 1 Gaucher Disease
Upshaw Schulman Syndrome
Van der Woude Syndrome
Walker-Warburg Syndrome
Weaver syndrome
Weill-Marchesani Syndrome
Werner’s Syndrome
Wilson’s Disease
Wiskott-Aldrich Syndrome
Wolfram syndrome
Zellweger Syndrome

Hematologic system

Atypical Hemolytic Uremic Syndrome (aHUS)
Beta Thalassemia
Congenital Dyserythropoietic Anemia
Fanconi’s anemia
HDL Deficiency (Family)
Hemophilia – Factor VIII Deficiency
Hemophilia A
Hereditary Stomatocytosis
Intermediate Beta Thalassemia
Sickle cell anemia
Thrombophilia (Factor V – Protein C)
X-linked agammaglobulinemia

Hereditary diseases

Fragile X Syndrome
Friedreich’s Ataxia
Pompe disease



Aromatase Deficiency

Immune system

Autoimmune Lymphoproliferative Syndrome (ALPS)
Congenital Erythropoietic Porphyria (Gunther’s Disease)
Familial hemophagocytic lymphohistiocytosis (HLH)
Severe Combined Immunodeficiency Syndrome
Type 2 X-linked Lymphoproliferative Syndrome
X-linked Lymphoproliferative Syndrome (XLP)


Sjogren’s Syndrome
Yao’s Syndrome


Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Mitochondrial Complex Deficiency 1

Muscular system

Becker Muscular Dystrophy
Duchenne Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Hypotonia in Down Syndrome
Leigh’s Syndrome
Malignant Hyperthermia
Melas Syndrome
Muscular Dystrophy – Congenital Dystroglycanopathy
Myasthenia Grave

Neurodegenerative diseases

Becker Muscular Dystrophy
Duchenne Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Hypotonia in Down Syndrome
Leigh’s Syndrome
Malignant Hyperthermia
Melas Syndrome
Muscular Dystrophy – Congenital Dystroglycanopathy
Myasthenia Grave


Canavan disease
Charcot-Marie Disease
Congenital Central Hypoventilation
Huntington’s Disease
Louis-Bar Syndrome (Ataxia Telangiectasia)
Pick’s Disease
Spinocerebellar Ataxia
Tay-Sachs disease
Torsional dystonia
Wolfram Syndrome-1

Personal characteristics

GLUT1 Deficiency Syndrome
West syndrome


Antley-Bixley Syndrome with Genital Anomaly

Reproductive system

Restless Legs Syndrome (Willis-Ekbom disease)
Tourette’s Syndrome

Skeletal system (bones)

Perrault Syndrome
Polycystic Ovary Syndrome


Léri-Weill dyschondrosteosis

Urinary system

Bartter’s Syndrome
Familial Amyloid Nephropathy with Urticaria and Deafness
Polycystic Kidney Disease (DRP)
Renal agenesis

Vision (Ophthalmology)

Dry Eye Syndrome
Knobloch Syndrome
Stickler Syndrome

Vitamins need

Biotinidase Deficiency