Coloboma, Craniosynostosis, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Duplication of thumb phalanx, Facial asymmetry, Finger syndactyly, Foot polydactyly, Generalized hirsutism, Global developmental delay, Hemimegalencephaly, Hirsutism, Hypertelorism, Hypopigmented skin patches, Intellectual disability, Intestinal malrotation, Iris coloboma, Megalencephaly, Microphthalmia, Optic disc coloboma, Polymicrogyria, Preaxial hand polydactyly, Syndactyly, Toe syndactyly, Ventriculomegaly

abnormal cardiovascular development, abnormal cerebellar foliation, abnormal cerebellar granule cell morphology, abnormal cerebellum development, abnormal cerebellum external granule cell layer morphology, abnormal chorioallantoic fusion, abnormal craniofacial development, abnormal cranium morphology, abnormal developmental patterning, abnormal diencephalon morphology, abnormal direction of embryo turning, abnormal embryo development, abnormal embryo size, abnormal embryo turning, abnormal enamel organ morphology, abnormal enteric neuron morphology, abnormal enterocyte proliferation, abnormal ethmoid bone morphology, abnormal face development, abnormal first pharyngeal arch morphology, abnormal forebrain development, abnormal frontonasal prominence morphology, abnormal head development, abnormal heart looping, abnormal inner dental epithelium morphology, abnormal intestinal enteroendocrine cell morphology, abnormal intestinal goblet cell morphology, abnormal intestinal smooth muscle morphology, abnormal intestine development, abnormal intestine physiology, abnormal lateral geniculate nucleus morphology, abnormal left-right axis patterning, abnormal lens development, abnormal mandible morphology, abnormal maxilla morphology, abnormal molar cusp morphology, abnormal neural crest cell apoptosis, abnormal neural crest cell migration, abnormal neural fold formation, abnormal neural plate morphology, abnormal neuron proliferation, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal optic vesicle formation, abnormal otic vesicle development, abnormal outer dental epithelium morphology, abnormal pericardium morphology, abnormal pulmonary alveolus morphology, abnormal radial glial cell morphology, abnormal sixth pharyngeal arch artery morphology, abnormal skeleton development, abnormal sphenoid bone morphology, abnormal stellate reticulum morphology, abnormal temporal bone morphology, abnormal thyroid cartilage morphology, abnormal visceral yolk sac morphology, abnormal vitelline vasculature morphology, absent Reichert cartilage, absent Tomes' process, absent cerebellar foliation, absent enamel cord, absent gonial bone, absent incus, absent lacrimal bone, absent lower incisors, absent neuronal precursor cells, absent orbitosphenoid bone, absent palatine bone, absent presphenoid bone, absent pterygoid process, absent styloid process, absent tongue, absent tympanic ring, absent vomer bone, behavior/neurological phenotype, blood vessel atresia, broad limb buds, cardiovascular system phenotype, decreased brain size, decreased chondrocyte proliferation, decreased embryo size, decreased locomotor activity, decreased type II pneumocyte number, digestive/alimentary phenotype, distended pericardium, ectopic Purkinje cell, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to tooth bud stage, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, forebrain hypoplasia, fused first pharyngeal arch, fused molars, gastric polyps, head tilt, hunched posture, incomplete embryo turning, increased basal cell carcinoma incidence, increased brain size, increased cardiac neural crest cell number, increased cerebellar granule cell number, increased heart rate variability, increased neuronal precursor cell number, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, overexpanded pulmonary alveoli, pericardial edema, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, respiratory system phenotype, short Meckel's cartilage, short scapula, small alisphenoid bone, small cerebellum, small temporal bone squamous part