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Items: 2

1.

Anterior clefting of vertebral bodies

Anterior schisis (cleft or cleavage) of vertebral bodies. [from HPO]

MedGen UID:
337861
Concept ID:
C1849579
Finding
2.

Autosomal recessive multiple pterygium syndrome

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types. [from OMIM]

MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality

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