Aplasia/Hypoplasia of the thumb, Blepharophimosis, Blepharospasm, Brachydactyly, Camptodactyly, Central heterochromia, Chorioretinal coloboma, Cleft palate, Deeply set eye, Duane anomaly, Ectopic kidney, Everted lower lip vermilion, Facial asymmetry, Global developmental delay, Hearing impairment, Hypopigmented skin patches, Hypoplasia of the radius, Hypoplastic iris stroma, Iris coloboma, Irregular hyperpigmentation, Low posterior hairline, Microcephaly, Microcornea, Micrognathia, Narrow internal auditory canal, Nystagmus, Oculomotor nerve palsy, Optic disc hypoplasia, Patchy hypopigmentation of hair, Plagiocephaly, Preauricular skin tag, Preaxial hand polydactyly, Ptosis, Seizure, Sensorineural hearing impairment, Short neck, Short palpebral fissure, Skeletal muscle atrophy, Spina bifida occulta, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Triphalangeal thumb, Webbed neck, Wide nasal bridge, obsolete External ear malformation

abnormal exploration in a new environment, abnormal innervation, abnormal locomotor behavior, abnormal motor neuron innervation pattern, abnormal muscle electrophysiology, abnormal nerve fiber response, abnormal sleep behavior, abnormal spinal cord dorsal column morphology, abnormal spinal cord interneuron morphology, abnormal spinal nerve morphology, behavior/neurological phenotype, decreased body size, decreased circulating free fatty acids level, decreased circulating glucose level, decreased exploration in new environment, decreased grip strength, decreased lean body mass, decreased motor neuron number, impaired righting response, increased circulating alkaline phosphatase level, increased lean body mass, increased total body fat amount, nervous system phenotype, no abnormal phenotype detected, preweaning lethality, incomplete penetrance, tonic seizures, unidirectional circling, vision/eye phenotype