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Hereditary Motor and Sensory Neuropathy, Type I
Hereditary Motor and Sensory Neuropathy, Type II
Hereditary Motor and Sensory Neuropathy, type III
Brugada Syndrome
Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Spinal Muscular Atrophy Type I
Spinal Muscular Atrophy Type II
Spinal Muscular Atrophy Type III
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Hemophilia A
Hemophilia B
Christmas Disease
Neurofibromatosis Type I
Neurofibromatosis Type 2
Schwannomatosis
Legius Syndrome
Tuberous Sclerosis Complex
Parkinson Disease
Fragile X Tremor Ataxia Syndrome
DYT1
DYT5
Pantothenate Kinase Associated Neurodegeneration
Prion-Associated Dementia
Cerebral Autosomal Dominant Arteriopathy with subcortical infarcts and leukoencephalopathy
(CADASIL)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
(CARASIL)
Hereditary Spastic Paraplegia
Facioscapulohumeral Dystrophy
Adenosine Deaminase Deficiency
Common Variable Immune Deficiency
Hyper IgE Syndrome
Osteogenesis Imperfecta
Type 1
Osteogenesis Imperfecta
Type 2
Osteogenesis Imperfecta
Type 3
Osteogenesis Imperfecta
Type 4
SLCO1B1
HLA B*1502
Camptomelic Dysplasia
Male-Limited Precocious Puberty
X-linked epilepsy and cognitive impairment
Charcot-Marie-Tooth disease type 1A
ATR-X syndrome
Mendelian susceptibility to mycobacterial disease
(MSMD)
Cystic Fibrosis
Normal Type I Collagen
X-linked SCID
Hereditary Neuropathy with Pressure Palsies
CHARGE Syndrome
Crohn Disease
Long QT Syndromes
Marfan Syndrome
Type 2 Diabetes Mellitus
Rett Syndrome
Disorders of sex development
46,XX Males
Disorders of sex development
46,XY Females
Cockayne Syndrome
Trichothiodystrophy
Congenital Contractural Arachnodactyly
(Beals Syndrome)
Ehlers-Danlos Syndrome, Classic Type
(Type I and Type II)
Ehlers-Danlos Syndrome, Hypermobility Type
(Type III)
Ehlers-Danlos Syndrome, Vascular Type
(Type IV)
Ehlers-Danlos Syndrome, Kyphoscoliotic Type
(Type VI)
Hidrotic Ectodermal Dysplasia
Oculocutaneous Albinism
X-linked Adrenal Hypoplasia Congenita
21-Hydroxylase Deficiency
Congenital Adrenal Hyperplasia
Androgen Insensitivity Syndrome
(Testicular Feminization)
Kallman Syndrome
McCune-Albright Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus
(BPES)
Congenital Hearing Loss
Hermansky-Pudlak Syndrome
Jervell and Lange-Nielsen Syndrome
Pendred Syndrome
Usher Syndrome
Factor V Leiden Thrombophilia
Familial Mediterranean Fever
Aarskog Syndrome
Antley-Bixler Syndrome
Coffin-Lowry Syndrome
Cornelia de Lange Syndrome
Fryns Syndrome
Kabuki Syndrome
VACTERL Association
Familial Dysautonomia
Amyotrophic Lateral Sclerosis
(Lou Gehrig Disease)
Charcot-Marie-Tooth Type 1B
Charcot-Marie-Tooth Type 2
Charcot-Marie-Tooth Neuropathy X Type 1
(CMTX1)
Nemalin Myopathy
Fukuyama Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Walker-Warburg Syndrome
Congenital Muscular Dystrophy, type 1D
Ataxia with Oculomotor Apraxia
Type 1 and Type 2
Hutchinson-Gilford Progeria Syndrome
Alport Syndrome with Thin BM Nephropathy
Cleidocranial Dysplasia
Diastrophic Dysplasia
Muenke Syndrome
Hereditary Multiple Osteochondromas Syndrome
Saethre-Chotzen Syndrome
Thrombocytopenia Absent Radius Syndrome
Simpson-Golabi-Behmel Syndrome
Poland Anomaly
Multiple Epiphyseal Dysplasia, Dominant
Marinesco-Sjogren Syndrome
Potocki-Lupski syndrome
Fraser Syndrome
Langer-Giedion Syndrome
Crigler-Najjar Syndrome
Gilbert Syndrome
Dubin-Johnson Syndrome
Pseudoachondroplasia
Multiple Epiphyseal Dysplasia, Recessive
Type II Collagenopathies
COL2A1
Cutis Laxa
Pseudoxanthoma Elasticum
Lowe Syndrome
UMOD associated kidney disease
