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1.

Arrhinia with choanal atresia and microphthalmia syndrome

Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006). Also see absence of nasal bones (161480). [from OMIM]

MedGen UID:
355084
Concept ID:
C1863878
Disease or Syndrome
2.

Absent tragus

Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. [from HPO]

MedGen UID:
869022
Concept ID:
C4023439
Anatomical Abnormality

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