Feature Accentuation Guide – Tips for Defined Features

CDK4-related cutaneous melanoma
CHEK2-related conditions
Coffin-Siris syndrome
Constitutional mismatch repair deficiency syndrome (CMMR-D)
DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome
Familial adenomatous polyposis (FAP), Attenuated familial adenomatous polyposis (AFAP)
Familial erythrocytosis
Familial isolated pituitary adenoma (FIPA)
Fanconi Anemia
FH-related conditions
GIST-plus syndrome
Hereditary diffuse gastric cancer (HDGC)
Hereditary mixed polyposis syndrome
Hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome
Hirschsprung disease
HOXB13-related predisposition to prostate cancer
Juvenile polyposis syndrome (JPS)
Li Fraumeni syndrome (LFS)
Lynch syndrome

Dystrophinopathy
Ehlers-Danlos syndrome (EDS), classic type (types I/II)
Ehlers-Danlos syndrome (EDS), vascular type (type IV)
Emery-Dreifuss muscular dystrophy
Fabry disease
Factor IX deficiency
Factor V Leiden-related thrombophilia
Familial adenomatous polyposis (FAP), Attenuated familial adenomatous polyposis (AFAP)
Familial erythrocytosis
Familial hypercholesterolemia (FH)
Familial Mediterranean fever
Fanconi Anemia
FH-related conditions
GIST-plus syndrome
Glycogen storage disease type II (GSDII), also known as Pompe disease
Hereditary diffuse gastric cancer (HDGC)
Hereditary hemochromatosis
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary mixed polyposis syndrome
Hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome
Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
Hirschsprung disease
HOXB13-related predisposition to prostate cancer
Hypertrophic cardiomyopathy (HCM)
Inherited cardiomyopathies
Inherited retinal dystrophy (IRD)
Jervell and Lange-Nielsen syndrome (JLNS)
Juvenile polyposis syndrome (JPS)
Left ventricular noncompaction (LVNC)
Li Fraumeni syndrome (LFS)
Limb-girdle muscular dystrophy type 2F
Loeys-Dietz syndrome (LDS)
Long QT syndrome
Lynch syndrome
Malignant hyperthermia susceptibility (MHS)
Marfan syndrome and other FBN1-related conditions

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