Coarse facial features, Cryptorchidism, Deep philtrum, Developmental regression, Eczematoid dermatitis, Encephalomalacia, Generalized hypotonia, Hypertelorism, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Joint hypermobility, Kyphoscoliosis, Macrocephaly, Mandibular prognathia, Mitral regurgitation, Myeloid leukemia, Narrow palpebral fissure, Neuroendocrine neoplasm, Obesity, Optic nerve hypoplasia, Patent ductus arteriosus, Proportionate short stature, Proportionate tall stature, Round face, Schizophrenia, Scoliosis, Seizure, Short columella, Short toe, Supraventricular tachycardia with an accessory connection mediated pathway, Tall stature, Thick eyebrow, Tricuspid regurgitation, Umbilical hernia, Ventriculomegaly, Widely spaced toes, Widely-spaced maxillary central incisors

decreased body size, decreased bone mineral content, decreased exploration in new environment, decreased grip strength, decreased lean body mass, decreased locomotor activity, decreased motor neuron number, decreased testis weight, homeostasis/metabolism phenotype, increased circulating amylase level, increased circulating iron level, increased common myeloid progenitor cell number, increased grip strength, increased hematopoietic stem cell number, increased total body fat amount, muscle phenotype, nervous system phenotype, postnatal lethality, complete penetrance, premature death, preweaning lethality, incomplete penetrance