Short stature-webbed neck-heart disease syndrome

MONDO:0017315

Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.

Also known as: Al Gazali-Aziz-Salem syndrome, Al Gazali Aziz Salem syndrome, short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease, short stature, webbed neck, heart disease

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Short stature-webbed neck-heart disease syndrome (0)

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