Behavioral abnormality, Bifid distal phalanx of the thumb, Bilateral ptosis, Bladder exstrophy, Blue irides, Brachydactyly, Cataract, Cerebral calcification, Clinodactyly, Coarctation of aorta, Compulsive behaviors, Depression, Deviated nasal septum, Double outlet right ventricle, Dry skin, Eczematoid dermatitis, Epicanthus, Esophageal atresia, Fair hair, Generalized hypopigmentation, Global developmental delay, Growth delay, Hemiplegia, High palate, Hyperactivity, Hyperphenylalaninemia, Hyperreflexia, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the corpus callosum, Hypoplastic helices, Hypoplastic left heart, Hypotelorism, Increased level of hippuric acid in urine, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Irritability, Lack of skin elasticity, Long philtrum, Maternal hyperphenylalaninemia, Memory impairment, Mental deterioration, Microcephaly, Micrognathia, Motor deterioration, Nausea and vomiting, Paraplegia, Phenylpyruvic acidemia, Prenatal maternal abnormality, Psychosis, Reduced phenylalanine hydroxylase level, Scleroderma, Seizure, Self-injurious behavior, Self-mutilation, Sloping forehead, Spasticity, Strabismus, Tetralogy of Fallot, Tremor, Ventricular septal defect, Wide nasal bridge

decreased body size, decreased litter size, decreased serotonin level, diluted coat color, environmentally induced seizures, impaired balance, impaired swimming, increased exploration in new environment, increased phenylalanine level, preweaning lethality, incomplete penetrance