Ataxia, Atrophy of the spinal cord, Babinski sign, Behavioral abnormality, Bilateral single transverse palmar creases, Brachycephaly, Brachydactyly, Cataract, Central heterochromia, Cerebellar atrophy, Cerebral atrophy, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Congenital hepatic fibrosis, Cryptorchidism, Decreased circulating gonadotropin concentration, Decreased fertility, Decreased response to growth hormone stimulation test, Delayed puberty, Dementia, Displacement of the urethral meatus, Distal amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Dysarthria, Epicanthus, Finger syndactyly, Gait ataxia, Gait disturbance, Generalized limb muscle atrophy, Gynecomastia, Hand polydactyly, Hemiplegia/hemiparesis, Hyperreflexia, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hyporeflexia, Hypotonia, Infertility, Intellectual disability, Intellectual disability, mild, Intention tremor, Iris coloboma, Long eyebrows, Long eyelashes, Low-set, posteriorly rotated ears, Lower limb spasticity, Micropenis, Motor axonal neuropathy, Neurological speech impairment, Nystagmus, Obesity, Oligomenorrhea, Optic atrophy, Peripheral axonal neuropathy, Personality changes, Photophobia, Pigmentary retinopathy, Progressive spastic paraplegia, Progressive visual loss, Renal insufficiency, Retinal degeneration, Retinal dystrophy, Scanning speech, Sensorineural hearing impairment, Severe short stature, Short stature, Small for gestational age, Small scrotum, Sparse hair, Spastic paraplegia, Spasticity, Spinocerebellar atrophy, Strabismus, Supernumerary nipple, Type II diabetes mellitus, obsolete Hypotrichosis

abnormal trophoblast giant cell morphology, abnormal vasculogenesis, abnormal visceral yolk sac morphology, abnormal voluntary movement, absent placental labyrinth, behavior/neurological phenotype, decreased Purkinje cell number, decreased embryo size, decreased trophoblast giant cell number, delayed chorioallantoic fusion, dilated dorsal aorta, dilated vasculature, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enlarged pericardium, incomplete embryo turning, increased apoptosis, increased placenta apoptosis, increased sensitivity to xenobiotic induced morbidity/mortality, increased vertical activity, small ectoplacental cone