Atrial septal defect, Blue sclerae, Bowing of the long bones, Bruising susceptibility, Bullet-shaped middle phalanges of the hand, Cerebellar hypoplasia, Cerebral atrophy, Choanal atresia, Choanal stenosis, Conductive hearing impairment, Coxa valga, Craniosynostosis, Cutis marmorata, Decreased body weight, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Dilation of lateral ventricles, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Episodic ataxia, Everted lower lip vermilion, Facial asymmetry, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Generalized hirsutism, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, High palate, Hypermetropia, Hypertelorism, Hypertension, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the odontoid process, Hypotonia, Increased susceptibility to fractures, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Low posterior hairline, Low-set ears, Macrocephaly, Malar flattening, Mandibular prognathia, Midface retrusion, Migraine, Motor delay, Narrow face, Narrow mouth, Neonatal hypotonia, Nystagmus, Obstructive sleep apnea, Omphalocele, Open mouth, Optic atrophy, Optic disc hypoplasia, Optic disc pallor, Oval face, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Plagiocephaly, Pointed chin, Prominence of the premaxilla, Prominent forehead, Proptosis, Protruding tongue, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Reduced bone mineral density, Retrognathia, Scaphocephaly, Scoliosis, Seizure, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Strabismus, Synophrys, Tall stature, Thick eyebrow, Thin skin, Umbilical hernia, Ventriculomegaly, obsolete Joint hyperflexibility, obsolete Macrogyria

abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone hypertrophic chondrocyte zone, abnormal long term spatial reference memory, abnormal neocortex morphology, abnormal response to social novelty, abnormal retrosplenial region morphology, abnormal short term spatial reference memory, abnormal social investigation, abnormal somatosensory cortex morphology, abnormal spine curvature, abnormal timing of postnatal eyelid opening, abnormal vertebral body morphology, craniofacial phenotype, decreased body size, decreased circulating amylase level, decreased trabecular bone mass, decreased trabecular bone thickness, delayed bone ossification, delayed endochondral bone ossification, delayed eyelid opening, domed cranium, enlarged lateral ventricles, impaired active avoidance behavior, impaired spatial learning, increased brain size, increased brain weight, increased cingulate cortex size, increased circulating alkaline phosphatase level, increased long bone epiphyseal plate size, increased neocortex size, lethality at weaning, incomplete penetrance, limb grasping, no abnormal phenotype detected, slow postnatal weight gain