X-Linked Recessive Disease,Amyotrophic Lateral Sclerosis 11,Yunis-Varon Syndrome,Amyotrophic Lateral Sclerosis 1,Charcot-Marie-Tooth Disease, Type 4b3,Fanconi Syndrome,Dent Disease 1,Dent Disease 2,Charcot-Marie-Tooth Disease, Type 4j,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3,Lowe Oculocerebrorenal Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Joubert Syndrome 1

Dentinogenesis Imperfecta,Aggressive Systemic Mastocytosis,Farber Lipogranulomatosis,Brittle Bone Disorder,Coffin-Siris Syndrome 1,Pituitary Hormone Deficiency, Combined, 2

Polycystic Kidney Disease,Coach Syndrome 1,Bardet-Biedl Syndrome,Clubfoot,Cohen Syndrome,Renal Dysplasia, Cystic,Familial Clubfoot With Or Without Associated Lower Limb Anomalies,Joubert Syndrome 3,Retinal Ciliopathy,Nephronophthisis,Leber Plus Disease,Posterior Pituitary Gland Neoplasm,Fundus Dystrophy,Interstitial Lung Disease,Spinocerebellar Ataxia 29,Parkinson Disease 20, Early-Onset,Respiratory Failure,Cleft Palate, Isolated,Dent Disease 1,Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly,Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome,Polydactyly,Macrocephaly/Autism Syndrome,Odontochondrodysplasia,Patent Ductus Arteriosus 1,Lowe Oculocerebrorenal Syndrome,Behr Syndrome,Joubert Syndrome 1

Leukemia, Chronic Myeloid,Leukemia, Acute Lymphoblastic,Crohn'S Disease,Inflammatory Bowel Disease,Severe Congenital Neutropenia,Juvenile Myelomonocytic Leukemia,Lymphoproliferative Syndrome

Rasopathy,Noonan Syndrome 1,Noonan Syndrome 2,Microphthalmia With Limb Anomalies

Cataract-Glaucoma,X-Linked Recessive Disease,Renal Tubular Transport Disease,Legionnaire Disease,Nephrocalcinosis,Cataract,Cystinuria,Donnai-Barrow Syndrome,Rickets,Fanconi Syndrome,Aminoaciduria,Chromosome 14q11-Q22 Deletion Syndrome,Renal Tubular Acidosis,Lens Disease,Dent Disease 1,Hydrophthalmos,Disease Of Mental Health,Glaucoma 3, Primary Congenital, A,Hypophosphatemic Rickets, X-Linked Recessive,Dent Disease 2,Aniseikonia,Hypophosphatemia,X-Linked Monogenic Disease,Lowe Oculocerebrorenal Syndrome

Cheilitis,Amyotrophic Lateral Sclerosis 1,Senile Cataract,Differentiated Thyroid Carcinoma,Pediatric T-Cell Leukemia,Spinocerebellar Ataxia Type 1 With Axonal Neuropathy,Acoustic Neuroma,Cystic Fibrosis,Actinobacillosis,Pediatric Ependymoma,Cockayne Syndrome,Actinic Cheilitis,Colorectal Cancer,Attenuated Familial Adenomatous Polyposis,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Xeroderma Pigmentosum, Complementation Group G,Respiratory Failure,Cockayne Syndrome B,Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia,Lung Cancer

Diabetes Mellitus,Schneckenbecken Dysplasia,Breast Cancer,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Cone-Rod Dystrophy 19,Lowe Oculocerebrorenal Syndrome,Opsismodysplasia