Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the thyroid gland, Abnormality of the ureter, Abnormality of the urinary system, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Attention deficit hyperactivity disorder, Behavioral abnormality, Brachycephaly, Brachydactyly, Broad face, Broad forehead, Broad palm, Chronic otitis media, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Corticospinal tract hypoplasia, Decreased fetal movement, Deeply set eye, Delayed eruption of primary teeth, Delayed puberty, Delayed speech and language development, Depressed nasal bridge, EEG abnormality, Eczematoid dermatitis, Everted upper lip vermilion, Failure to thrive in infancy, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hand polydactyly, Head-banging, Hearing impairment, Hoarse voice, Hyperactivity, Hyperacusis, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hyporeflexia, Hypothyroidism, Hypotonia, Impaired pain sensation, Increased body weight, Intellectual disability, Joint stiffness, Large face, Malar flattening, Mandibular prognathia, Microcephaly, Microcornea, Micrognathia, Midface retrusion, Morphological abnormality of the middle ear, Motor stereotypy, Myopia, Neurological speech impairment, Obesity, Onychotillomania, Open mouth, Orofacial cleft, Peripheral neuropathy, Pes planus, Polyembolokoilamania, Precocious puberty, Renal hypoplasia/aplasia, Retinal detachment, Scoliosis, Seizure, Self hugging, Self-injurious behavior, Self-mutilation, Short nose, Short palm, Short philtrum, Short stature, Sleep disturbance, Sleep-wake inversion, Strabismus, Synophrys, Taurodontia, Tented upper lip vermilion, Toe syndactyly, Upslanted palpebral fissure, Velopharyngeal insufficiency, Ventriculomegaly, Wide nasal bridge

abnormal thoracic vertebrae morphology, abnormal thyroid cartilage morphology, abnormal vertebral arch development, behavior/neurological phenotype, broad nasal bone, broad snout, decreased abdominal fat pad weight, decreased body size, decreased locomotor activity, decreased survivor rate, decreased vocalization, embryonic lethality between implantation and somite formation, incomplete penetrance, fusion of atlas and odontoid process, impaired contextual conditioning behavior, impaired cued conditioning behavior, increased abdominal adipose tissue amount, increased amylin secretion, increased anxiety-related response, increased body fat mass, increased cholesterol level, increased food intake, increased lean body mass, increased total fat pad weight, increased triglyceride level, increased vertical activity, increased white adipose tissue amount, lethality throughout fetal growth and development, incomplete penetrance, limb grasping, no abnormal phenotype detected, polyphalangy, postnatal lethality, incomplete penetrance, premature death