Abnormality of hair texture, Abnormality of neuronal migration, Abnormality of the mouth, Abnormality of the philtrum, Abnormality of the skin, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Arthrogryposis multiplex congenita, Athetosis, Atonic seizure, Behavioral abnormality, Bifid uterus, Bifid uvula, Bilateral tonic-clonic seizure, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral calcification, Cerebral dysmyelination, Cerebral hypomyelination, Cerebral hypoplasia, Cerebral visual impairment, Cerebral white matter atrophy, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Delayed myelination, Depressed nasal ridge, Developmental cataract, Developmental stagnation, Disproportionate short-limb short stature, Epileptic spasm, Esotropia, Everted lower lip vermilion, External genital hypoplasia, Failure to thrive, Feeding difficulties, Finger syndactyly, Flexion contracture, Focal emotional seizure with laughing, Gastroesophageal reflux, Generalized edema, Generalized ichthyosis, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Gingival bleeding, Growth delay, Hydranencephaly, Hypertelorism, Hypoglycinemia, Hypogonadism, Hypoplasia of the corpus callosum, Hyposerinemia, Hypsarrhythmia, Ichthyosis, Inappropriate crying, Intellectual disability, Intrauterine growth retardation, Irritability, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Moderate global developmental delay, Muscle spasm, Muscular dystrophy, Nystagmus, Opisthotonus, Osteomalacia, Osteopenia, Osteoporosis, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Primary microcephaly, Prominent occiput, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Retrognathia, Rickets, Rocker bottom foot, Scoliosis, Seizure, Severe global developmental delay, Short neck, Short stature, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spasticity, Spina bifida, Submucous cleft hard palate, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, Vomiting, Yellow subcutaneous tissue covered by thin, scaly skin, obsolete Macrogyria

abnormal respiratory quotient, abnormal visceral yolk sac morphology, abnormal vitelline vasculature morphology, absent cerebellum, absent olfactory bulb, decreased arginine level, decreased brain size, decreased brain weight, decreased cystathionine level, decreased embryo size, decreased fluid intake, decreased food intake, decreased glutamic acid level, decreased glycine level, decreased phenylalanine level, decreased respiratory quotient, decreased serine level, decreased threonine level, embryonic lethality during organogenesis, complete penetrance, enlarged lateral ventricles, forebrain hypoplasia, increased arginine level, increased glutamine level, increased phenylalanine level, interdigital webbing, prenatal lethality, preweaning lethality, complete penetrance