Abnormality of the kidney, Abnormal male external genitalia morphology, Absent frontal sinuses, Absent mastoid, Absent speech, Accessory scrotum, Acute leukemia, Aganglionic megacolon, Agenesis of corpus callosum, Almond-shaped palpebral fissure, Ambiguous genitalia, Anemia, Anteverted nares, Asplenia, Atypical behavior, Autism, Bilateral ptosis, Bilateral renal hypoplasia, Bilateral talipes equinovarus, Blindness, Brachycephaly, Brachydactyly, Bridged palmar crease, Brisk reflexes, Broad nasal tip, Bruising susceptibility, Cerebral atrophy, Cerebral cortical atrophy, Chronic constipation, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Clubbing of fingers, Coarse facial features, Constipation, Coxa valga, Cryptorchidism, Decreased testicular size, Decreased total neutrophil count, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Depression, Dolichocephaly, Downslanted palpebral fissures, Drooling, Dyspnea, Enlarged epiphyses of the distal phalanges of the hand, Epicanthus, Equinovarus deformity, Everted lower lip vermilion, Exotropia, External genital hypoplasia, Facial hypotonia, Failure to thrive, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flexion contracture, Floppy infant, Gastroesophageal reflux, Genu valgum, Global developmental delay, Growth delay, HbH hemoglobin, Hemivertebrae, High palate, Hydronephrosis, Hyperactivity, Hyperreflexia, Hypertelorism, Hypochromic microcytic anemia, Hypogonadism, Hypoplasia of penis, Hypoplastic philtrum, Hypospadias, Hypotonia, Immunodeficiency, Impairment of activities of daily living, Increased femoral anteversion, Infectious encephalitis, Intellectual disability, Intellectual disability, moderate, Intellectual disability, progressive, Intellectual disability, severe, Joint stiffness, Kyphoscoliosis, Large forehead, Lower limb hypertonia, Low-set ears, Lumbar scoliosis, Macroglossia, Malar flattening, Male pseudohermaphroditism, Mandibular prognathia, Metatarsus adductus, Microcephaly, Microcytic anemia, Micrognathia, Micropenis, Microtia, Midface retrusion, Motor stereotypy, Myelodysplasia, Myopia, Narrow face, Narrow forehead, Narrow palpebral fissure, Nausea and vomiting, Obesity, obsolete Difficulty walking, obsolete Dysphasia, Oligohydramnios, Open mouth, Optic atrophy, Overjet, Paroxysmal bursts of laughter, Perimembranous ventricular septal defect, Persistence of primary teeth, Pes planus, Posteriorly rotated ears, Profound global developmental delay, Protruding tongue, Ptosis, Radial deviation of finger, Recurrent urinary tract infections, Reduced alpha/beta synthesis ratio, Renal agenesis, Renal hypoplasia, Restlessness, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Severe global developmental delay, Shawl scrotum, Short neck, Short nose, Short stature, Short upper lip, Slender finger, Sloping forehead, Small scrotum, Spastic diplegia, Spasticity, Spastic paraplegia, Splenomegaly, Talipes calcaneovalgus, Talipes equinovarus, Tapered finger, Telecanthus, Tented upper lip vermilion, Thick eyebrow, Thick lower lip vermilion, Thin upper lip vermilion, Thoracic scoliosis, Thrombocytopenia, Thyroglossal cyst, Triangular nasal tip, Umbilical hernia, Upslanted palpebral fissure, U-Shaped upper lip vermilion, Ventricular septal defect, Vesicoureteral reflux, Volvulus, Vomiting, Wide anterior fontanel, Widely-spaced maxillary central incisors, Widely spaced teeth, Wide mouth, Wide nasal bridge

absent gastric milk in neonates, behavior/neurological phenotype, decreased amacrine cell number, decreased birth body size, decreased cell proliferation, decreased embryo size, decreased hippocampus pyramidal cell number, decreased trophoblast giant cell number, disorganized extraembryonic tissue, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, impaired contextual conditioning behavior, loss of cortex neurons, loss of hippocampal neurons, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, reduced long term potentiation, small ectoplacental cone