Genetic Disorders

Adrenal DisordersJoubert Syndrome
AdrenoleukodystrophyJuvenile Dermatomyositis
Agenesis of the Corpus CallosumJuvenile Rheumatoid Arthritis
AgnosiaJuvenile Spondyloarthritis
Alagille SyndromeKearns-Sayre Syndrome
Alexander DiseaseKennedys Disease
Alpers DiseaseKidney Stones
Alternating HemiplegiaKlippel-Trénaunay Syndrome
Alzheimers DiseaseKnee Arthritis
AmyloidosisKrabbe Disease
Angelman SyndromeLeighs Disease
Anorectal MalformationsLennox-Gastaut Syndrome
AphakiaLesch-Nyhan Syndrome
Apraxia of SpeechLeukodystrophy
Arteriovenous MalformationsLewy Body Dementia
Arteriovenous Malformations in the Central Nervous SystemLissencephaly
Asperger SyndromeLupus
Atrial Septal DefectLymphatic Malformations
Atrioventricular Septal DefectLymphedema
Barth SyndromeMachado-Joseph Disease
Batten DiseaseMarfan Syndrome
Bells PalsyMeckels Diverticulum
Binge Eating DisorderMelkersson-Rosenthal Syndrome
Brain AneurysmMenkes Disease
CADASILMetachromatic Leukodystrophy
Canavan DiseaseMicrocephaly
Canker SoreMitochondrial Myopathies
Capillary MalformationsMotor Neuron Diseases
CardiomyopathiesMoyamoya Disease
Celiac DiseaseMultiple Sclerosis
Cephalic DisordersMyotonia Congenita
Cerebellar DegenerationNeuroacanthocytosis
Cerebellar HypoplasiaNeurodegeneration with Brain Iron Accumulation
Cerebro-Oculo-Facio-Skeletal SyndromeNeurofibromatosis
Charcot-Marie-Tooth DiseaseNeuronal Migration Disorders
Coffin-Lowry SyndromeNickel Allergy
ColpocephalyNon-Alcoholic Fatty Liver Disease
Combined Vascular MalformationsObesity
Congenital Diaphragmatic HerniaOlivopontocerebellar Atrophy
Congenital Heart DiseaseParkinsons Disease
Congenital HemangiomasParoxysmal Choreoathetosis
Congenital HypothyroidismPediatric Mixed Connective Tissue Disease
Congenital MyastheniaPelizaeus-Merzbacher Disease
Congenital MyopathyPhenylketonuria
CraniosynostosisPompe Disease
Creutzfeldt-Jakob DiseasePorencephaly
Crohns DiseasePrecocious Puberty
Cutis Marmorata Telangiectatica CongenitaPrenatal Diagnosis
Dandy-Walker SyndromeProgressive Familial Intrahepatic Cholestasis
Down SyndromeProsopagnosia
Down Syndrome and Congenital Heart DiseasePsoriasis
DysautonomiaPulmonary Atresia
Dyssynergia Cerebellaris MyoclonicaPulmonary Hypertension
DystoniasPyloric Stenosis
Ebsteins AnomalyRestless Legs Syndrome
EncephalocelesSandhoff Disease
EpilepsySepto-Optic Dysplasia
Fabry DiseaseSickle Cell Disease
Familial Adenomatous PolyposisSjögrens Syndrome
Familial Periodic ParalysesSmith-Magenis Syndrome
Food AllergiesSotos Syndrome
Friedreichs AtaxiaSpasmodic Dysphonia
Genetic Heart DisordersSpinal Muscular Atrophy
Gerstmann-Straussler-Scheinker DiseaseSpondyloarthritis
Giant Axonal NeuropathyStroke
GlaucomaStuttering
Glycogen Storage DiseaseSyringomyelia
HeadacheTangier Disease
Hemangiomas of InfancyTay-Sachs Disease
HemochromatosisTetralogy of Fallot
HemophiliaThyroid Disorders
Hepatic PorphyriaTreacher Collins Syndrome
HepatoblastomaTremor
Hereditary AngioedemaTricuspid Atresia
Hereditary Spastic ParaplegiaTrisomy 13
Hirschsprung DiseaseTrisomy 18
Huntingtons DiseaseTuberous Sclerosis
HydrocephalusTurner Syndrome
Hyper IgE SyndromeUrea Cycle Disorder
Hypertrophic CardiomyopathyVACTERL or VATER Association
Hypoplastic Left Heart SyndromeVascular Malformations
Imperforate AnusVascular Rings
Incontinentia PigmentiVelocardiofacial Syndrome
Infantile Neuroaxonal DystrophyVenous Malformations
Infantile Refsum DiseaseVentricular Septal Defect
Inguinal HerniaVestibular Schwannoma
IniencephalyVon Hippel-Lindau Disease
Interrupted Aortic ArchVon Willebrand Disease
Intestinal Atresia and StenosisWilliams Syndrome
Intestinal Malrotation and VolvulusWilsons Disease
Isaacs SyndromeZellweger Syndrome
Jaw DeformitiesZollinger-Ellison Syndrome