Deeply set eye, Hypoplasia of the iris, Increased skull ossification, Intellectual disability, Intrauterine growth retardation, Macrotia, Male pseudohermaphroditism, Microcephaly, Micromelia, Miosis, Narrow chest, Severe short stature, Short metacarpal, Short phalanx of finger, Strabismus, Telecanthus, Trapezoidal vertebral body

abnormal neural crest morphology, abnormal optic vesicle formation, abnormal oral cavity morphology, abnormal palatal shelf elevation, abnormal palatal shelf fusion at midline, abnormal palate development, abnormal spinal cord interneuron morphology, abnormal testis cord formation, abnormal testis development, abnormal vertebral column morphology, absent cornea, absent floor plate, absent interparietal bone, absent mandibular angle, absent mandibular condyloid process, absent mandibular coronoid process, absent parietal bone, absent supraoccipital bone, absent tooth placode, agnathia, arrest of tooth development, chondrodystrophy, decreased embryo size, decreased motor neuron number, diencephalon hypoplasia, disproportionate dwarf, failure of bone ossification, neonatal lethality, complete penetrance, prenatal lethality, complete penetrance, small basioccipital bone, small embryonic telencephalon, small exoccipital bone, small frontonasal prominence, tongue hypoplasia