Rare Disease Library

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Heart-hand syndrome

Atriodigital dysplasia

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

Kallmann syndrome-heart disease syndrome

Short stature-valvular heart disease-characteristic facies syndrome

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome