Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Decreased response to growth hormone stimulation test, Delayed myelination, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Dyspnea, Elbow dislocation, Emphysema, Entropion, Epispadias, Failure to thrive, Feeding difficulties, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Growth delay, Hearing impairment, High forehead, High, narrow palate, Hip dysplasia, Hypoplasia of penis, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intellectual disability, Intrauterine growth retardation, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microretrognathia, Microtia, Microtia, third degree, Midface retrusion, Motor delay, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory insufficiency, Retrognathia, Sandal gap, Severe short stature, Short middle phalanx of finger, Short nose, Simplified gyral pattern, Slender long bone, Small for gestational age, Specific learning disability, Stenosis of the external auditory canal, Strabismus, Submucous cleft hard palate, Thick vermilion border, Tracheobronchomalacia, Umbilical hernia, Underdeveloped nasal alae, obsolete Joint hyperflexibility

abnormal preimplantation embryo development, abnormal proerythroblast morphology, abnormal spleen red pulp morphology, abnormal trophectoderm morphology, absent erythroid progenitor cell, absent inner cell mass, absent trophectoderm, behavior/neurological phenotype, decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number, decreased CD4-positive, alpha beta T cell number, decreased DN1 thymic pro-T cell number, decreased DN4 thymocyte number, decreased T cell proliferation, decreased bone marrow cell number, decreased cell proliferation, decreased double-positive T cell number, decreased erythrocyte cell number, decreased granulocyte number, decreased hematopoietic stem cell proliferation, decreased litter size, decreased memory T cell number, decreased thymocyte number, embryonic growth arrest, embryonic lethality before implantation, complete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, increased circulating erythropoietin level, increased hematopoietic stem cell number, nervous system phenotype, no abnormal phenotype detected, premature death