EMG: myopathic abnormalities, Global developmental delay, Hemangioma, Holoprosencephaly, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypotelorism, Hypothyroidism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Maternal diabetes, Microcephaly, Midnasal stenosis, Narrow nasal bridge, Orofacial cleft, Panhypopituitarism, Premature birth, Renal agenesis, Scoliosis, Seizure, Short nose, Short philtrum, Short stature, Solitary median maxillary central incisor, Strabismus, Tented upper lip vermilion, Tetralogy of Fallot

abnormal germ layer development, abnormal heart development, abnormal mesendoderm development, abnormal mesoderm development, abnormal neural fold morphology, abnormal primitive streak formation, abnormal rostral-caudal axis patterning, abnormal visceral endoderm morphology, abnormal visceral yolk sac blood island morphology, absent anterior definitive endoderm, absent mesoderm, absent notochord, absent prechordal plate, absent somites, absent vitelline blood vessels, decreased fibroblast proliferation, decreased forebrain size, decreased midbrain size, embryo phenotype, embryonic growth arrest, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, failure of primitive streak formation, fused somites, no abnormal phenotype detected, premature death, rostral body truncation, short rostral-caudal axis