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Items: 3

1.

Holoprosencephaly 2

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. [from NCI]

MedGen UID:
322517
Concept ID:
C1834877
Disease or Syndrome
2.

Holoprosencephaly 4

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. [from NCI]

MedGen UID:
374488
Concept ID:
C1840528
Disease or Syndrome
3.

Aplasia of the premaxilla

Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. [from HPO]

MedGen UID:
869286
Concept ID:
C4023712
Anatomical Abnormality; Finding
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