Atrioventricular canal defect, Behavioral abnormality, Blue sclerae, Brachydactyly, Broad nasal tip, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Coloboma, Conductive hearing impairment, Congenital diaphragmatic hernia, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, Decreased body weight, Dental malocclusion, Depressed nasal tip, Duplicated collecting system, EEG abnormality, Epicanthus, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemivertebrae, High palate, Highly arched eyebrow, Hip dislocation, Hirsutism, Hydrocephalus, Hydronephrosis, Hypodontia, Hypoplasia of penis, Hypospadias, Hypotonia, Intellectual disability, Intrauterine growth retardation, Lip pit, Long eyelashes, Long palpebral fissure, Low-set ears, Lower lip pit, Macrotia, Mask-like facies, Microcephaly, Microcornea, Microdontia, Micrognathia, Natal tooth, Neonatal hypoglycemia, Nystagmus, Obesity, Orofacial cleft, Preauricular skin tag, Precocious puberty, Prominent fingertip pads, Protruding ear, Ptosis, Pulmonic stenosis, Recurrent infections, Recurrent otitis media, Renal hypoplasia/aplasia, Scoliosis, Seizure, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Small hand, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventriculomegaly, Vertebral clefting, Widely spaced teeth, obsolete Central hypotonia, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal muscle precursor cell morphology, abnormal notochord morphology, abnormal rostral-caudal axis patterning, caudal body truncation, cranioschisis, decreased birth body size, decreased birth weight, decreased body size, decreased common myeloid progenitor cell number, decreased embryo size, decreased erythrocyte cell number, decreased hemoglobin content, decreased mean corpuscular volume, decreased megakaryocyte-erythroid progenitor cell number, delayed somite formation, embryo phenotype, embryonic growth retardation, embryonic lethality during organogenesis, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, failure of heart looping, failure of initiation of embryo turning, hematopoietic system phenotype, impaired skeletal muscle regeneration, increased granulocyte monocyte progenitor cell number, increased granulocyte number, increased hematopoietic stem cell number, increased myeloid cell number, increased neutrophil cell number, increased nucleated erythrocyte cell number, increased spleen weight, increased trophoblast giant cell number, kinked neural tube, lethality throughout fetal growth and development, complete penetrance, muscle phenotype, myocardial trabeculae hypoplasia, no abnormal phenotype detected, open neural tube, pale yolk sac, pericardial edema, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, reproductive system phenotype, small heart, spontaneous chromosome breakage, thin interventricular septum, thin ventricular wall