Cone-Rod Dystrophy 15
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome
Elsahy-Waters Syndrome
Gastric Adenocarcinoma
Cleft Lip/palate-Ectodermal Dysplasia Syndrome
Autosomal Dominant Intellectual Developmental Disorder 19
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome
Gastric Cancer
Ritter's Disease
Diffuse Gastric Cancer
Usher Syndrome, Type if
Developmental and Epileptic Encephalopathy 9
Usher Syndrome, Type I
Teebi Hypertelorism Syndrome 1
Usher Syndrome, Type Id
Pancreatic Cancer
Subcorneal Pustular Dermatosis
Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 23
Van Maldergem Syndrome
Pemphigus Vulgaris, Familial
Diffuse Gastric and Lobular Breast Cancer Syndrome
Bullous Skin Disease
Blepharocheilodontic Syndrome 1
Adult Liposarcoma
Craniofacial-Deafness-Hand Syndrome
Hepatocellular Carcinoma
Exudative Vitreoretinopathy 7
Cri-Du-Chat Syndrome
Colorectal Cancer
Breast Lobular Carcinoma
Retinitis Pigmentosa 55
Familial Woolly Hair Syndrome
Neural Tube Defects
Ocular Motility Disease
Spinocerebellar Ataxia 45
Pilomatrixoma
Usher Syndrome
Van Maldergem Syndrome 1
Strabismus
Arrhythmogenic Right Ventricular Cardiomyopathy
Periventricular Nodular Heterotopia
Hirschsprung Disease 1
Eye Disease
Congenital Nervous System Abnormality
Nervous System Disease
Cone-Rod Dystrophy 2
Fundus Dystrophy
Microcephaly
Retinitis Pigmentosa