Treatments and Conditions50ConditionsAlpha-1 antitrypsin deficiencyAlport syndromeCongenital adrenal hyperplasiaIdiopathic pulmonary fibrosisImmunodeficiency disordersInterstitial lung diseaseNeurofibromatosis-1Polycystic kidney diseaseWilson’s diseaseAarskog syndromeAlagille syndromeAlbinismAlkaptonuriaAngelman syndromeBeckwith-Wiedemann syndromeBranchio-Oto-Renal syndromeChromosomal disorderCornelia de Lange syndromeCraniosynostosisDyskeratosis congenitaEctodermal dysplasiaEndocrine diseaseFragile X syndromeHemochromatosisHolt-Oram syndromeHypogonadotropic hypogonadismIncontinentia pigmentiInflammatory disorderIntellectual disabilityKallmann syndromeKlippel Trenaunay syndromeLEOPARD syndromeMalignant hyperthermiaMature onset diabetes of the young (MODY)McCune-Albright syndromeMonogenic obesityNoonan syndromeOvergrowth syndromePancreatitisPorphyriaPrader-Willi syndromePremature ovarian failure (POF)Rett syndromeRhabdomyolysisRubinstein-Taybi syndromeShort Telomere syndromeSmith-Magenis syndromeWaardenburg syndromeWilliams syndromeWolf-Hirschhorn syndrome (46)1TreatmentsGenetic carrier screening
50ConditionsAlpha-1 antitrypsin deficiencyAlport syndromeCongenital adrenal hyperplasiaIdiopathic pulmonary fibrosisImmunodeficiency disordersInterstitial lung diseaseNeurofibromatosis-1Polycystic kidney diseaseWilson’s diseaseAarskog syndromeAlagille syndromeAlbinismAlkaptonuriaAngelman syndromeBeckwith-Wiedemann syndromeBranchio-Oto-Renal syndromeChromosomal disorderCornelia de Lange syndromeCraniosynostosisDyskeratosis congenitaEctodermal dysplasiaEndocrine diseaseFragile X syndromeHemochromatosisHolt-Oram syndromeHypogonadotropic hypogonadismIncontinentia pigmentiInflammatory disorderIntellectual disabilityKallmann syndromeKlippel Trenaunay syndromeLEOPARD syndromeMalignant hyperthermiaMature onset diabetes of the young (MODY)McCune-Albright syndromeMonogenic obesityNoonan syndromeOvergrowth syndromePancreatitisPorphyriaPrader-Willi syndromePremature ovarian failure (POF)Rett syndromeRhabdomyolysisRubinstein-Taybi syndromeShort Telomere syndromeSmith-Magenis syndromeWaardenburg syndromeWilliams syndromeWolf-Hirschhorn syndrome (46)1TreatmentsGenetic carrier screening