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
Also known as: Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly, STRATTON-PARKER syndrome, Stratton Parker syndrome, Stratton-Parker syndrome, short stature wormian bones dextrocardia
Also known as: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS, SSASKS
Also known as: SSMED, short stature, microcephaly, and endocrine dysfunction
Also known as: Lopes Gorlin syndrome, Lopes-Gorlin syndrome, short tarsus absence of lower eyelashes, short tarsus with absence of LOWER eyelashes, stale
Also known as: MRT35, intellectual disability, autosomal recessive 35, mental retardation, autosomal recessive 35
Also known as: SLSD with SCID, Slsd with SCID, achondroplasia and Swiss type agammaglobulinemia, achondroplasia and Swiss-type agammaglobulinemia, achondroplasia and severe combined immunodeficiency, achondroplasia so-called and severe combined immunodeficiency, achondroplasia, so-called, and severe combined immunodeficiency, achondroplasia-SCID syndrome, achondroplasia-Swiss type agammaglobulinemia syndrome, achondroplasia-severe combined immunodeficiency syndrome, agammaglobulinemia and achondroplasia, immunodeficiency-short limb dwarfism syndrome, short limb skeletal dysplasia with SCID, short-limb skeletal dysplasia with severe combined immunodeficiency
Also known as: SRTD10, short-rib thoracic dysplasia 10 with or without polydactyly
Also known as: SRTD11, short-rib thoracic dysplasia 11 with or without polydactyly
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