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ID DOID:0050549
Name Saldino-Noonan syndrome
Definition A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase.

type I short rib polydactyly syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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