Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Atrial septal defect, Axial malrotation of the kidney, Bilateral radial aplasia, Brachycephaly, Broad forehead, Broad thumb, Carpal bone hypoplasia, Carpal synostosis, Cavum septum pellucidum, Cerebellar hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarctation of aorta, Cow milk allergy, Coxa valga, Decreased circulating antibody level, Delayed CNS myelination, Edema of the dorsum of feet, Edema of the dorsum of hands, Eosinophilia, Fibular aplasia, Finger syndactyly, Fused cervical vertebrae, Genu varum, Global developmental delay, Hepatosplenomegaly, High forehead, Hip dislocation, Horseshoe kidney, Intellectual disability, Lateral clavicle hook, Leukocytosis, Low-set, posteriorly rotated ears, Malar flattening, Meckel diverticulum, Micrognathia, Motor delay, Nevus flammeus of the forehead, Pancreatic cysts, Patellar aplasia, Patellar dislocation, Phocomelia, Ptosis, Scoliosis, Seborrheic dermatitis, Seizure, Sensorineural hearing impairment, Short phalanx of finger, Short stature, Shoulder muscle hypoplasia, Spina bifida, Strabismus, Talipes equinovarus, Tetralogy of Fallot, Thrombocytopenia, Tibial torsion, Ventricular septal defect

ectopic cortical neuron, impaired neuron differentiation, increased forebrain apoptosis, increased neuron apoptosis, increased neuron number, increased neuronal precursor proliferation, premature neuronal precursor differentiation, small brain ventricles, thin cerebral cortex