KALP HASTALIKLARI (CARDIAC DISORDERS)
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Brugada Syndrome (BrS)
- Cardio-Facio-Cutaneous Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- CHARGE Syndrome
- Congenital Heart Disorder due to Micro Del/Dup Syndrome
- DiGeorge syndrome
- Dilated Cardiomyopathy (DCM)
- Heterotaxy
- Holt-Oram syndrome
- Hypertrophic Cardiomyopathy (HCM)
- Left Ventricular Noncompaction (LVNC)
- LEOPARD Syndrome
- Loeys-Dietz syndrome (LDS)
- Long QT Syndrome (LQTS)
- Marfan Syndrome/LDS/Related Disorders
- Noonan Syndrome
- Oculo Facio Cardio Dental Syndrome
- Pulmonary Arterial Hypertension
- Short QT Syndrome (SQTS)
- Simpson-Golabi-Behmel Syndrome (SGBS)
- Sotos Syndrome
- Sudden Cardiac Arrest
- Sudden Unexplained Death
- Supravalvular Aortic Stenosis
- Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
- Transthyretin Amyloidosis
- Velocardiofacial syndrome
- Williams-Beuren syndrome
- Wolff-Parkinson-White Syndrome
Cinsiyet oluşumu ile ilgili bozukluklar
(Disorders of Sex Differentiation)
- 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
- 46,XY Disorder of Sex Development
- 46,XY Gonadal Dysgenesis (SRY-related)
- 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
- 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)
- 5-Alpha Reductase Deficiency
- Adrenal Hypoplasia Congenita (AHC), X-linked
- Androgen Insensitivity Syndrome (AIS)
- Antley-Bixler Syndrome (ABS)
- Aromatase Deficiency
- Campomelic Dysplasia (CD)
- Cytochrome P450 Oxidoreductase (POR) Deficiency
- Smith-Lemli-Opitz Syndrome
- Testicular Feminization Syndrome (TFM)
Dismorfoloji bozukluğu (Dysmorphology Disorders)
- Alagille syndrome
- Antley-Bixler Syndrome (ABS)
- Axenfeld-Rieger Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Branchiootic Syndrome
- Branchiootorenal syndrome
- Campomelic Dysplasia (CD)
- Cardio-Facio-Cutaneous Syndrome
- CHARGE Syndrome
- Cherubism
- Chondrodysplasia Punctata (CDPX1), X-Linked Recessive
- Clefting Syndrome
- Coffin-Lowry Syndrome (CLS)
- Cohen Syndrome
- Costello Syndrome
- Cowden Syndrome
- Craniofrontonasal syndrome
- Cutis Laxa, Autosomal Dominant
- Cytochrome P450 Oxidoreductase (POR) Deficiency
- DiGeorge syndrome
- Ectodermal Dysplasia
- Ectrodactyly
- Feingold Syndrome
- Greig Cephalopolysyndactyly Syndrome
- Hay-Wells Syndrome
- Holoprosencephaly
- HOXD13-Associated Limb Abnormalities
- Hypo-/Anhidrotic Ectodermal Dysplasia
- Kabuki syndrome (KS)
- Kallmann Syndrome
- LEOPARD Syndrome
- Metachondromatosis
- Microphthalmia, Lenz Syndrome
- Noonan Syndrome
- Noonan-Like Syndrome
- Oculo Facio Cardio Dental Syndrome
- Oral-Facial-Digital syndrome Type 1
- Pallister Hall syndrome (PHS)
- Popliteal Pterygium Syndrome
- Prader-Willi syndrome (PWS)
- Proteus Syndrome/Proteus-like Syndrome
- PTEN associated Macrocephaly/Autism Syndrome
- Rieger Syndrome
- Rubinstein-Taybi Syndrome (RSTS)
- Simpson-Golabi-Behmel Syndrome (SGBS)
- Smith-Magenis Syndrome (SMS)
- Sotos Syndrome
- Split Hand - Split Foot Malformation
- Supravalvular Aortic Stenosis
- Treacher Collins Syndrome (TCS)
- Triphalangeal Thumb Polydactyly
- Van der Woude Syndrome
- Velocardiofacial syndrome
- Williams-Beuren syndrome
Hormonsal bozuklukları (Endocrine Disorders)
- 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
- 46,XY Disorder of Sex Development
- 46,XY Gonadal Dysgenesis (SRY-related)
- 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
- 46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)
- 5-Alpha Reductase Deficiency
- Achalasia-Addisonianism-Alacrima
- Adrenal Hypoplasia Congenita (AHC), X-linked
- Allgrove Syndrome
- Androgen Insensitivity Syndrome (AIS)
- Antley-Bixler Syndrome (ABS)
- APECED
- Aromatase Deficiency
- Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy
- Autoimmune Polyglandular Syndrome
- Carney Complex
- Cytochrome P450 Oxidoreductase (POR) Deficiency
- DFNB4 Nonsyndromic Hearing Loss and Deafness
- Familial Hypocalciuric Hypercalcemia (FHH)
- Familial Isolated Hyperparathyroidism (FIHP)
- Familial Isolated Hypoparathyroidism (FIH)
- Familial Medullary Thyroid Cancer
- Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
- Hyperparathyroidism-Jaw Tumor Syndrome
- Hypocalcemia, Autosomal Dominant (ADH)
- Hypogonadotropic Hypogonadism (HH)
- Maturity-Onset Diabetes of the Young (MODY)
- Multiple Endocrine Neoplasia 2A
- Multiple Endocrine Neoplasia 2B
- Multiple Endocrine Neoplasia Type 1
- Neonatal Severe Primary Hyperparathyroidism (NSHPT)
- Parathyroid Carcinoma
- Pendred Syndrome
- Permanent Neonatal Diabetes (PND)
- Prader-Willi syndrome (PWS)
- Premature Ovarian Failure (POF)
- Septo-Optic Dysplasia
- Shwachman-Diamond Syndrome (SDS)
- Testicular Feminization Syndrome (TFM)
- Triple-A Syndrome
- Wermer syndrome
Göz hastalıları ile ilgili bozukluklar (Eye Disorders)
- Achromatopsia
- Aniridia
- Anophthalmia
- Anterior Segment Dysgenesis
- Axenfeld-Rieger Syndrome
- Best Vitelliform Macular Dystrophy
- Bestrophinopathy, Autosomal Recessive
- Bothnia retinal dystrophy
- Choroideremia
- Cone-Rod Dystrophy, Autosomal Dominant
- Cone-Rod Dystrophy, Autosomal Recessive
- Congenital Nystagmus, X-linked
- Congenital Stationary Night Blindness, Autosomal Dominant
- Congenital Stationary Night Blindness, Autosomal Recessive
- Congenital Stationary Night Blindness, X-Linked
- Enhanced S-Cone Syndrome
- Familial Exudative Vitreoretinopathy
- Foveomacular Vitelliform Dystrophy, Adult-onset
- Fundus Albipunctatus
- Fundus Flavimaculatus
- Glaucoma, Juvenile Open Angle
- Glaucoma, Primary Congenital
- Glaucoma, Primary Open Angle
- Goldmann-Favre Syndrome
- Iris Hypoplasia
- Leber Congenital Amaurosis, Autosomal Dominant
- Leber Congenital Amaurosis, Autosomal Recessive
- Macular Dystrophy, Autosomal Dominant
- Macular Dystrophy, Autosomal Recessive
- Microphthalmia
- Microphthalmia, Lenz Syndrome
- Newfoundland Rod-Cone Dystrophy
- Norrie Disease
- Oculo Facio Cardio Dental Syndrome
- Peter’s Anomaly
- Retinitis Pigmentosa, Autosomal Dominant (adRP)
- Retinitis Pigmentosa, Autosomal Recessive (arRP)
- Retinitis Pigmentosa, X-linked
- Retinitis Punctata Albescens
- Retinoschisis, Juvenile X-Linked
- Rieger Syndrome
- Septo-Optic Dysplasia
- Stargardt Disease
- Usher Syndrome
- Vitreoretinochoroidopathy, Autosomal Dominant
Kan hastalıları ile ilgili bozukluklar (Hematologic Disorders)
- Blackfan-Diamond Syndrome
- Cartilage-Hair Hypoplasia
- Chuvash Type Polycythemia
- Congenital Amegakaryocytic Thrombocytopenia (CAMT)
- Cyclic Neutropenia
- Dyskeratosis Congenita
- Hereditary Angioedema (HAE) Type I-II
- Hereditary Angioedema (HAE) Type III
- Hermansky-Pudlak Syndrome
- Hoyeraal-Hreidarsson Syndrome (HHS)
- Neutropenia, X-linked
- Severe Congenital Neutropenia
- Shwachman-Diamond Syndrome (SDS)
- Thrombocytopenia, X-linked
- Wiskott-Aldrich syndrome
Genetik Kanser Sendromlari (Hereditary Cancer Syndromes)
- Attenuated Familial Adenomatous Polyposis (AFAP)
- Bannayan-Riley-Ruvalcaba Syndrome
- Basal cell nevus syndrome
- Birt-Hogg-Dube Syndrome
- Bloom Syndrome
- Breast Cancer
- Colorectal Cancer
- Cowden Syndrome
- Endometrial Cancer
- Familial Adenomatous Polyposis (FAP)
- Familial Cutaneous Malignant Melanoma
- Familial Isolated Hyperparathyroidism (FIHP)
- Familial Medullary Thyroid Cancer
- Fumarate Hydratase Deficiency
- Gorlin Syndrome
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
- Hyperparathyroidism-Jaw Tumor Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT)
- Li-Fraumeni Syndrome (LFS)
- Lynch Syndrome
- Multiple Endocrine Neoplasia 2A
- Multiple Endocrine Neoplasia 2B
- Multiple Endocrine Neoplasia Type 1
- Nevoid basal cell carcinoma syndrome
- Ovarian Cancer
- Pancreatic Cancer
- Parathyroid Carcinoma
- Peutz-Jeghers Syndrome
- Pneumothorax, Primary Spontaneous
- Proteus Syndrome/Proteus-like Syndrome
- PTEN associated Macrocephaly/Autism Syndrome
- Uterine Cancer
- Von Hippel-Lindau syndrome
- Wermer syndrome
Bağışıklık Sistemi ile ilgili bozukluklar (Immunologic Disorders)
- Adenosine Deaminase Deficiency
- Agammaglobulinemia, X-linked
- APECED
- Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A
- Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)
- Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)
- Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy
- Autoimmune Polyglandular Syndrome
- Bloom Syndrome
- Bruton type agammaglobulinemia
- Cartilage-Hair Hypoplasia
- Chronic Granulomatous Disease (CGD)
- Cyclic Neutropenia
- Hereditary Angioedema (HAE) Type I-II
- Hereditary Angioedema (HAE) Type III
- Hyper-IgD Syndrome
- Hyper-IgE Syndrome (HIES)
- Immunodeficiency Syndrome with Hyper-IgM
- Invasive Pneumococcal Disease
- IRAK4 Deficiency
- Jobs Syndrome
- Leukocyte Adhesion Deficiency Type 1
- LIG4 Syndrome
- Neonatal Onset Multisystem Inflammatory Disease
- Netherton Syndrome
- Neutropenia, X-linked
- Neutrophil Immunodeficiency Syndrome
- Omenn Syndrome
- Purine Nucleoside Phosphorylase Deficiency
- Reticular Dysgenesis
- Severe Combined Immune Deficiency (SCID)
- Severe Combined Immune Deficiency (SCID), ADA Type
- Severe Combined Immune Deficiency (SCID), DCLRE1C Type
- Severe Combined Immune Deficiency (SCID), IL7R Type
- Severe Combined Immune Deficiency (SCID), JAK3 Type
- Severe Combined Immune Deficiency (SCID), RAG Type
- Severe Combined Immune Deficiency (XSCID), X-linked
- Severe Combined Immune Deficiency with Radiation Sensitivity
- Severe Congenital Neutropenia
- Thrombocytopenia, X-linked
- Wiskott-Aldrich syndrome
Metobolik Bozukluklar (Metabolic Disorders)
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
- 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency
- 3-Methylglutaconic Aciduria Type I
- 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
- Arginase Deficiency
- Argininosuccinic Aciduria
- Aspartylglucosaminuria
- Beta-Ketothiolase Deficiency
- Biotinidase Deficiency
- Canavan Disease
- Carnitine Acylcarnitine Translocase Deficiency
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II (CPT2) Deficiency
- Citrin deficiency
- Classic Citrullinemia
- Cobalamin Metabolism and Related Disorders
- Combined Malonic and Methylmalonic Aciduria (CMAMMA)
- Combined Saposin Deficiency
- Dent Disease 2
- Dihydrolipoamide Dehydrogenase Deficiency
- Dihydropteridine Reductase (DHPR) Deficiency
- Dopa-Responsive Dystonia
- Ethylmalonic Encephalopathy
- Fabry Disease
- Familial Amyloid Polyneuropathy
- Fatty Acid Oxidation Disorders
- Free Sialic Acid Storage Disorders
- Fucosidosis
- Fumarate Hydratase Deficiency
- Galactokinase deficiency
- Galactosemia
- Glutaric Aciduria Type I
- Glutaric Aciduria Type II
- Glycerol Kinase Deficiency
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type V (GSD V)
- GM1-Gangliosidosis
- GTP Cyclohydrolase I Deficiency
- Hawkinsinuria
- HMG-CoA Lyase Deficiency
- Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
- Homocystinuria due to Cystathionine Beta-Synthase Deficiency
- Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency
- Hyperammonemia Related Disorders
- Infantile Parkinsonism, Autosomal Recessive
- Isobutyryl-CoA Dehydrogenase Deficiency
- Isovaleric Acidemia
- Krabbe Disease
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
- Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)
- Lysosomal Acid Lipase Deficiency
- Malonyl-CoA Decarboxylase Deficiency
- Maple Syrup Urine Disease (MSUD)
- Maple Syrup Urine Disease, Type III
- Maroteaux-Lamy Syndrome
- McArdle Disease
- Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
- Metachromatic Leukodystrophy
- Methionine Adenosyltransferase I/III Deficiency
- Methylmalonic Acidemia
- Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type
- Morquio B Disease
- Morquio Syndrome A
- Mucolipidosis I
- Mucolipidosis IV
- Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID
- Mucopolysaccharidosis Type IVA
- Mucopolysaccharidosis Type IVB
- Mucopolysaccharidosis VI (MPSVI)
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
- Multiple Sulfatase Deficiency
- N-Acetylglutamate Synthase Deficiency (NAGS)
- Neuronal Ceroid-Lipofuscinosis 2 (CLN2)
- Niemann-Pick Disease, Type C
- Niemann-Pick Disease, Types A and B
- Ornithine Transcarbamylase (OTC) Deficiency
- Phenylketonuria
- Pompe Disease
- Primary/Systemic Carnitine Deficiency
- Propionic Acidemia
- Pyruvate Carboxylase Deficiency
- Pyruvate Dehydrogenase E1-Alpha Deficiency
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Salla Disease
- Sandhoff Disease
- Sanfilippo Syndrome A, B, C and D
- Saposin A Deficiency
- Saposin B Deficiency
- Saposin C Deficiency
- Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
- Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
- Sialidosis
- Smith-Lemli-Opitz Syndrome
- Tay-Sachs Disease
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type I
- Tyrosinemia type II
- Tyrosinemia type III
- Urea Cycle Disorders
- Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Mitochondri bozukluğu (Mitochondrial Disorders)
- Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Amyotrophic Lateral Sclerosis 1
- Ataxia with Oculomotor Apraxia 1(AOA1)
- Barth syndrome
- Biotin-Responsive Basal Ganglia Disease
- Bjornstad Syndrome
- Carnitine Acylcarnitine Translocase Deficiency
- Charcot-Marie-Tooth Disease, Type 2A2
- Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)
- Chronic Progressive External Ophthalmoplegia (CPEO)
- Combined OXPHOS Deficiency
- Complex I Deficiency
- Complex II Deficiency (MT-C2D)
- Complex III Deficiency
- Complex IV(Cytochrome C Oxidase) Deficiency
- Complex V (ATP Synthesis) Deficiency
- COQ10 Deficiency
- Deafness-Dystonia-Optic Neuronopathy (DDON) Syndrome
- Diabetes and Hearing Loss
- Fructose-1,6-Bisphosphatase Deficiency
- Glycogen Storage Disease 1a
- Glycogen Storage Disease Ib
- Glycogen Storage Disease Ic
- Glycogen Storage Disease, Type 0
- Gracile Syndrome
- Hereditary Motor and Sensory Neuropathy VI
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (HUPRA) Syndrome
- Hypomyelinating Leukodystrophy 4
- Jensen Syndrome
- Kearns-Sayre Syndrome (KSS)
- Lactic acidosis
- Lebers Hereditary Optic Neuropathy (LHON)
- Leigh Syndrome
- Maple Syrup Urine Disease, Type III
- Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
- Maternally Inherited Diabetes and Deafness (MIDD)
- Maternally Inherited Diabetes Mellitus (MIDM)
- Methylglutaconic Aciduria
- Mitochondrial DNA depletion syndrome
- Mitochondrial DNA Depletion/Multiple Deletion
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
- Mitochondrial Encephalopathy
- Mitochondrial Myopathy (MM)
- Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
- Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
- Mitochondrial Phosphate Carrier Deficiency
- Mitochondrial Super-Complex Deficiency
- Mitochondrial Trifunctional Protein (MTP) Deficiency
- Mohr-Tranebjaerg Syndrome
- Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
- Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
- Neuronopathy, Distal Hereditary Motor, Type VB
- Optic Atrophy
- Pearson Syndrome
- Perrault Syndrome 2
- Pontocerebellar Hypoplasia Type 6
- Progressive External Ophthalmoplegia (PEO)
- Pyruvate Carrier Deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
- Pyruvate Metabolism
- Sensorineural Hearing Loss (SNHL)
- Sideroblastic Anemia
- Spastic Ataxia 4 (SPAX4)
- Spastic Ataxia with Leukoencephalopathy, Autosomal Recessive (ARSAL)
- Spastic Paraplegia 13
- Spastic Paraplegia 31
- Spastic Paraplegia 7
- Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
- Wernicke’s-Like Encephalopathy
- Wolfram Syndrome
Nörolojik bozukluklar (Neurological Disorder’s)
- Achalasia-Addisonianism-Alacrima
- Adenylosuccinate Lyase Deficiency
- Aicardi-Goutieres Syndrome
- Alexander Disease
- Allgrove Syndrome
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Anauxetic Dysplasia
- Angelman syndrome (AS)
- Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
- Atypical Rett Syndrome
- Autism Spectrum Disorders
- Benign Familial Infantile Seizures (BFIS)
- Benign Familial Neonatal Seizures (BFNS)
- Benign Familial Neonatal-Infantile Seizures (BFNIS)
- Biotinidase Deficiency
- Cerebral Cavernous Malformation (CCM)
- Coffin-Lowry Syndrome (CLS)
- Cohen Syndrome
- Congenital Insensitivity to Pain (CIP)
- Congenital Insensitivity to Pain with Anhidrosis
- Cornelia de Lange Syndrome
- CRASH Syndrome
- Creatine Deficiency Syndromes
- Cutis Laxa, Autosomal Dominant
- Dihydrolipoamide Dehydrogenase Deficiency
- Dopa-Responsive Dystonia
- Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
- Epilepsy and Mental Retardation Limited to Females
- Epilepsy with Variable Learning and Behavioral Disorders
- Fabry Disease
- Familial Hemiplegic Migraine (sometimes a/w seizures)
- Fragile X Syndrome
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Glucose Transporter Type I Deficiency Syndrome
- Hereditary Inclusion Body Myopathy (HIBM)
- Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN 4)
- Holoprosencephaly
- Hydrocephalus, X-linked
- Infantile Parkinsonism, Autosomal Recessive
- Infantile Spasm Syndrome-2, X-linked
- Inherited Erythromelalgia (IEM)
- Joubert Syndrome
- Juvenile Myoclonic Epilepsy
- KBG Syndrome
- Lafora Disease
- Macrocephaly
- MASA Syndrome
- Microcephaly
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Mowat-Wilson Syndrome
- Mucolipidosis IV
- Nemaline Myopathy
- Neuronal Ceroid Lipofuscinoses (NCL)
- Niemann-Pick Disease, Type C
- Niemann-Pick Disease, Types A and B
- Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
- Ohtahara Syndrome
- Ornithine Transcarbamylase (OTC) Deficiency
- Paroxysmal Extreme Pain Disorder (PEPD)
- Paroxysmal Kinesigenic Dyskinesia (PKD)
- Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA)
- Partial Epilepsy with Auditory Features, Autosomal Dominant
- Pitt Hopkins Syndrome
- Pontocerebellar Hypoplasia (PCH)
- Prader-Willi syndrome (PWS)
- Premature Ovarian Failure (FMR1-Associated)
- Progressive Myoclonic Epilepsy
- Progressive Neurodevelopmental Syndrome in Males
- Pyridoxine Dependent Seizures
- Rett syndrome
- Rubinstein-Taybi Syndrome (RSTS)
- Septo-Optic Dysplasia
- Simpson-Golabi-Behmel Syndrome (SGBS)
- Small Fiber Neuropathy (SFN)
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome (SMS)
- Sotos Syndrome
- Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
- Supravalvular Aortic Stenosis
- Tay-Sachs Disease
- Triple-A Syndrome
- Tyrosine Hydroxylase Deficiency
- Unverricht-Lundborg Disease (Baltic Myoclonus)
- Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
- West Syndrome
- Williams-Beuren syndrome
Prenatal (doğum oncesi) testler (Prenatal Diagnosis)
- 46,XY Gonadal Dysgenesis (SRY-related)
- Acro-Renal-Ocular syndrome
- Androgen Insensitivity Syndrome (AIS)
- Anophthalmia
- Campomelic Dysplasia (CD)
- CHARGE Syndrome
- Chromosomal Abnormalities
- CRASH Syndrome
- DiGeorge syndrome
- Duane-Radial Ray syndrome
- Ectrodactyly
- Hay-Wells Syndrome
- Holoprosencephaly
- Holt-Oram syndrome
- Hydrocephalus, X-linked
- MASA Syndrome
- Microphthalmia
- Noonan Syndrome
- Open Spine/Abdominal Wall Defects
- Smith-Lemli-Opitz Syndrome
- Townes-Brocks Syndrome
- Uniparental Disomy
- Velocardiofacial syndrome
Böbrek bozuklukları (Renal Disorders)
- Alport Syndrome
- Birt-Hogg-Dube Syndrome
- Branchiootic Syndrome
- Branchiootorenal syndrome
- Dent Disease
- Dent Disease 2
- Familial Isolated Hyperparathyroidism (FIHP)
- Fumarate Hydratase Deficiency
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- Hyperparathyroidism-Jaw Tumor Syndrome
- Oral-Facial-Digital syndrome Type 1
- Parathyroid Carcinoma
- Pneumothorax, Primary Spontaneous
- Renal-Coloboma Syndrome / Papillorenal Syndrome
Romatoloji bozuklukları (Rheumatologic Disorders)
- Chronic Infantile Neurologic Cutaneous and Articular Syndrome
- Familial Cold Autoinflammatory Syndrome
- Familial Cold Urticaria syndrome
- Familial Hibernian Fever
- Familial Mediterranean Fever
- Hyper-IgD Syndrome
- Majeed Syndrome
- Muckle-Wells Syndrome
- Neonatal Onset Multisystem Inflammatory Disease
- Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
- TNF Receptor-Associated Periodic Syndrome
İskelet bozuklukları (Skeletal Disorders)
- Acro-Renal-Ocular syndrome
- Anauxetic Dysplasia
- Basal cell nevus syndrome
- Campomelic Dysplasia (CD)
- Cartilage-Hair Hypoplasia
- Cherubism
- Chondrodysplasia Punctata (CDPX1), X-Linked Recessive
- Coffin-Lowry Syndrome (CLS)
- Duane-Radial Ray syndrome
- Gorlin Syndrome
- Hereditary Multiple Exostoses (HME)
- Holt-Oram syndrome
- Hyperostosis Corticalis Generalisata, benign form of worth with Torus Palatinus
- Hypophosphatemic Rickets, X-linked
- Metaphyseal Dysplasia without Hypotrichosis
- Multiple Epiphyseal Dysplasia (MED)
- Nevoid basal cell carcinoma syndrome
- Osteopetrosis Type 1, Autosomal Dominant
- Osteoporosis-Pseudoglioma Syndrome
- Pseudo-Vitamin D-Deficiency Rickets
- Pseudoachondroplasia (PSACH)
- Rickets, Hypophosphatemic, Autosomal Dominant
- Rickets, Hypophosphatemic, Autosomal Recessive
- Townes-Brocks Syndrome
- Van Buchem Disease Type 2
Deri hastalıkları (Skin Disorders)
- Basal cell nevus syndrome
- Birt-Hogg-Dube Syndrome
- Bloom Syndrome
- Bullous Ichthyosiform Erythroderma
- Carney Complex
- Chanarin-Dorfman syndrome
- Clefting Syndrome
- Clouston Syndrome
- Collodion Baby
- Congenital Insensitivity to Pain with Anhidrosis
- Cutis Laxa, Autosomal Dominant
- Darier Disease
- Dyskeratosis Congenita
- Dystrophic Epidermolysis Bullosa (DEB)
- Ectodermal Dysplasia
- Ectrodactyly
- Epidermolysis Bullosa (EB)
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa, Junctional Type
- Epidermolysis Bullosa, Junctional with Muscular Dystrophy
- Epidermolysis Bullosa, Junctional with Pyloric Atresia
- Epidermolytic Ichthyosis
- Epidermolytic Palmoplantar Keratoderma (EPPK)
- Erythrokeratodermia Variabilis (EKV)
- Familial Cutaneous Malignant Melanoma
- Ferguson-Smith Disease
- Focal Dermal Hypoplasia
- Fumarate Hydratase Deficiency
- Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)
- Goltz Syndrome
- Gorlin Syndrome
- Hailey-Hailey disease
- Harlequin Ichthyosis
- Hay-Wells Syndrome
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN 4)
- Herlitz Junctional Epidermolysis Bullosa
- Hermansky-Pudlak Syndrome
- Hidrotic ectodermal dysplasia
- Hoyeraal-Hreidarsson Syndrome (HHS)
- Hyper-IgE Syndrome (HIES)
- Hypo-/Anhidrotic Ectodermal Dysplasia
- Ichthyosis Follicularis with Atrichia and Photophobia (IFAP)
- Ichthyosis Prematurity Syndrome
- Ichthyosis Vulgaris
- Ichthyosis, Congenital Recessive
- Jobs Syndrome
- Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)
- Keratosis Follicularis Spinulosa Decalvans (KFSD)
- Lamellar Ichthyosis Type 1
- Lamellar Ichthyosis Type 2
- Mitis Junctional Epidermolysis Bullosa
- Netherton Syndrome
- Neutral lipid storage disease with ichthyosis (NLSD)
- Nevoid basal cell carcinoma syndrome
- Non-Bullous Congenital Ichthyosiform Erythroderma
- Non-epidermolytic Palmoplantar Keratoderma (NEPPK)
- Non-Herlitz Junctional Epidermolysis Bullosa
- Odonto-onycho-dermal dysplasia (OODD)
- Pachyonychia Congenita type 1 (PC1)
- Pachyonychia Congenita type 2 (PC2)
- Pneumothorax, Primary Spontaneous
- Pseudoxanthoma Elasticum (PXE)
- Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
- Schopf-Schulz-Passarge Syndrome (SSPS)
- Sjogren Larsson Syndrome (SLS)
- Split Hand - Split Foot Malformation
- Steatocystoma Multiplex
- Superficial Epidermolytic Ichthyosis
- Unna-Thost disease
- Vohwinkel syndrome
- Vorner syndrome
- White Sponge Nevus
Copyright © ICC-PATH. All rights reserved.