Aplasia/Hypoplasia of the distal phalanx of the 5th toe, Aplasia/Hypoplasia of the patella, Bilateral single transverse palmar creases, Cataract, Cleft palate, Clinodactyly, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Ectopic kidney, Elbow dislocation, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Growth delay, Hearing impairment, Hernia, Highly arched eyebrow, Hydronephrosis, Hypertrichosis, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Hypotonia, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Kyphosis, Lacrimation abnormality, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Nystagmus, Open mouth, Partial agenesis of the corpus callosum, Posteriorly rotated ears, Ptosis, Recurrent respiratory infections, Renal hypoplasia/aplasia, Scoliosis, Seizure, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Small nail, Spina bifida occulta, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventriculomegaly, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility

abnormal eye development, abnormal heart development, abnormal hippocampus CA2 region morphology, abnormal hippocampus CA3 region morphology, abnormal lumbar vertebrae morphology, abnormal mandible morphology, abnormal nervous system development, abnormal neuron differentiation, abnormal neuronal precursor proliferation, abnormal palatal shelf elevation, abnormal phalanx morphology, abnormal pterygoid process morphology, abnormal retina bipolar cell morphology, abnormal secondary palate development, abnormal sternebra morphology, abnormal sternum ossification, abnormal stomach pyloric region morphology, abnormal sympathetic ganglion morphology, abnormal talus morphology, abnormal truncus arteriosus septation, abnormal xiphoid process morphology, asymmetric sternocostal joints, curly tail, decreased amacrine cell number, decreased birth weight, decreased brain size, decreased pulmonary respiratory rate, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, eyelids open at birth, increased neuron apoptosis, increased retina apoptosis, kinked tail, mandible hypoplasia, neonatal lethality, complete penetrance, no abnormal phenotype detected, palatal shelves fail to meet at midline, perinatal lethality, complete penetrance, short mandible, small Meckel's cartilage, small cerebellum, small hippocampus, small olfactory bulb, small stomach, sternebra fusion, thin cerebral cortex, thin retina ganglion layer, vision/eye phenotype