[source]
pmid = PMID:16962354
title = Functional analysis of mutations in TGIF associated with holoprosencephaly
[diagnosis]
disease_id = OMIM:142946
disease_label = Holoprosencephaly 4
[text]
A male proband presenting with lobar holoprosencephaly, atypical ventricles with small frontal horns,
hypothalamic and caudate fusion, diabetes insipidus, seizures,
premaxillary agenesis, microcephaly, absent nasal root and septum with a
depressed nasal tip (Fig. 1A and B).
