Bilateral ptosis, Brachycephaly, Cerebral palsy, Congenital contracture, Cryptorchidism, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Eczema, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hyperactivity, Hyperreflexia, Hypertelorism, Intellectual disability, Joint contracture of the 5th finger, Joint contracture of the hand, Kyphosis, Low-set ears, Microcephaly, Micrognathia, Motor stereotypy, Narrow mouth, Narrow palm, Obsessive-compulsive behavior, Periauricular skin pits, Prominent nasal tip, Proptosis, Ptosis, Repetitive compulsive behavior, Retrognathia, Scoliosis, Seizure, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Sound sensitivity, Spasticity, Specific learning disability, Strabismus, Thick eyebrow, Thick vermilion border, Umbilical hernia, Upslanted palpebral fissure, Wide mouth, Wide nasal base, Wide nasal bridge

behavior/neurological phenotype, decreased anxiety-related response, decreased body length, decreased bone mineral content, decreased exploration in new environment, decreased food intake, decreased vocalization, embryo tumor, impaired cued conditioning behavior, impaired righting response, increased bone mineral content, increased lean body mass, increased startle reflex, neonatal lethality, complete penetrance, positive geotaxis, preweaning lethality, complete penetrance