Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects.
Ribeiro
Lucilene Arilho
LA
Guerini
Rita de Cássia M
Rde C
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D016142:Holoprosencephaly / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000473:pathology*; D013131:Spine / Q000002:abnormalities*