Axial hypotonia, Bell-shaped thorax, Blepharophimosis, Brachycephaly, Carious teeth, Chorioretinal dystrophy, Choroideremia, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coarctation of aorta, Congenital hip dislocation, Constipation, Depressed nasal bridge, Diastema, Dyspnea, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat occiput, Generalized hypotonia, Global developmental delay, Growth delay, High palate, High, narrow palate, Hypertelorism, Hypocholesterolemia, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypotonia, Intellectual disability, Intellectual disability, severe, Intestinal malrotation, Laryngeal stridor, Laryngomalacia, Long face, Long foot, Long palm, Low-set ears, Metatarsus adductus, Microcephaly, Microcornea, Microdontia, Micrognathia, Motor delay, Muscle flaccidity, Myopia, Narrow face, Narrow mouth, Narrow palm, Neonatal respiratory distress, Nystagmus, Optic atrophy, Optic disc pallor, Ovoid vertebral bodies, Preauricular skin tag, Ptosis, Recurrent infections, Respiratory distress, Respiratory insufficiency, Retrognathia, Short nose, Short palpebral fissure, Short philtrum, Short stature, Single transverse palmar crease, Smooth philtrum, Sparse hair, Specific learning disability, Strabismus, Telecanthus, Thin eyebrow, Thin skin, Thin upper lip vermilion, Thin vermilion border, Upslanted palpebral fissure, Ventricular septal defect, Ventriculomegaly, Wide mouth, obsolete Sparse and thin eyebrow

decreased grip strength, decreased vocalization, eye inflammation, hearing/vestibular/ear phenotype, nervous system phenotype, poor grooming, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced fertility, small hippocampus