Compulsive behaviors, Conotruncal defect, Cryptorchidism, Delayed speech and language development, Everted lower lip vermilion, Flat face, Gastroesophageal reflux, Generalized hypotonia, Hearing impairment, Hypertelorism, Hypospadias, Hypotonia, Intellectual disability, Intellectual disability, severe, Macroglossia, Malar flattening, Mandibular prognathia, Microcephaly, Micropenis, Midface retrusion, Motor stereotypy, Natal tooth, Obesity, Persistence of primary teeth, Protruding tongue, Recurrent respiratory infections, Seizure, Single transverse palmar crease, Sleep disturbance, Synophrys, Talipes equinovarus, Tracheobronchomalacia, U-Shaped upper lip vermilion, Upslanted palpebral fissure

abnormal metopic suture morphology, abnormal miniature excitatory postsynaptic currents, abnormal mitral valve cusp morphology, abnormal nasal bone morphology, abnormal object recognition memory, abnormal oxygen consumption, abnormal response to novel object, abnormal retina blood vessel morphology, abnormal retina vasculature morphology, abnormal sensory capabilities/reflexes/nociception, abnormal social investigation, abnormal suckling behavior, absent gastric milk in neonates, absent tricuspid valve cusps, atrioventricular septal defect, decreased anxiety-related response, decreased atrioventricular cushion size, decreased birth body size, decreased blood urea nitrogen level, decreased brown fat cell size, decreased brown fat lipid droplet number, decreased circulating glucose level, decreased embryo weight, decreased exploration in new environment, decreased fatty acid oxidation, decreased fetal weight, decreased interscapular fat pad weight, decreased locomotor activity, decreased survivor rate, decreased vertical activity, delayed intramembranous bone ossification, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enhanced paired-pulse facilitation, impaired adaptive thermogenesis, impaired behavioral response to xenobiotic, impaired contextual conditioning behavior, impaired cued conditioning behavior, impaired synaptic plasticity, incomplete somite formation, increased anxiety-related response, increased brown fat cell lipid droplet size, increased circulating glucose level, increased epididymal fat pad weight, increased interscapular fat pad weight, increased lean body mass, increased liver triglyceride level, increased startle reflex, increased thigmotaxis, increased white fat cell lipid droplet size, irregularly shaped pupil, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, open neural tube, persistence of hyaloid vascular system, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance