List of Phenotypes investigated at Yale and CMG

Amelogenesis imperfecta, hypomaturation type, IIA3; AI2A3
Amelogenesis imperfecta, Type IC; AI1C
Angioedema
Aortic valve disease 1
Atrioventricular septal defect
Atypical hemolytic-uremic syndrome
Chronic fatigue and seizures
Colorectal adenomatous polyposis
Congenital anomalies of the kidney and urinary tract
Congenital heart disease
Coronary artery disease
Coronary heart disease susceptibility
Cutaneous-skeletal hypophosphatemia Syndrome
Dent's disease
Dentin dysplasia, type I; DTDP1
Dilated Cardiomyopathy
Eagle-Barrett syndrome with pulmonary hypertension
Early onset neurodegenerative diseases
Epilepsy
Erythrokeratodermia variabilis et progressiva
Familial combined hyperlipidemia
Familial pulmonary fibrosis
Frequent fractures with joint laxity
Gluteric aciduria
Hemolytic uremic syndrome
Hepatoportal sclerosis
Hypertension with aldosteronism
Ichthyosis
Idiopathic bronchiectasis
Idiopathic pulmonary Hypertension; pulmonary arterial hypertrophy
Idiopathic severe pulmonary hypertension
IgA Nephropathy
Immunodeficiency with development delay
Inherited kidney dysfunction
Intellectual disability
Intellectual disability, neuropathy, neuromotor delay
Interstitial lung disease
Left ventricular noncompaction with or without congenital heart defects
Linear AVM
Musculoskeletal malformations
Nephronophthisis-related ciliopathies
Nephrotic syndrome
Nevus sebaceus
Noonan syndrome
Patent ductus arteriosus
Periodic fever, enterocolitis
Polycystic liver disease
Primary aldosteronism
Primary ciliary dyskinesia
Pulmonary hypertension
Renal adysplasia
Selective tooth agenesis
Structural brain disorders
VACTERL
VCFS - like syndrome
Vesicoureteral reflux
Wooly hair nevus