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.
MONDO:0016296
holoprosencephaly
is_a
HPE4
exact
TGIF1 holoprosencephaly
exact
holoprosencephaly 4
exact
holoprosencephaly caused by mutation in TGIF1
exact
holoprosencephaly type 4
exact