Corpus callosum atrophy, Cortical dysplasia, Decreased muscle mass, Decreased nerve conduction velocity, Delayed cranial suture closure, Delayed skeletal maturation, Depressed nasal bridge, Dolichocephaly, Dysarthria, Elevated circulating hepatic transaminase concentration, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Fetal ascites, Frontal bossing, Gait ataxia, Generalized cerebral atrophy/hypoplasia, Gliosis, Global developmental delay, Gonadal dysgenesis, Hammertoe, Hepatic steatosis, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hyporeflexia, Increased circulating gonadotropin level, Large fontanelles, Limited extraocular movements, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Motor delay, Neonatal hypotonia, Nystagmus, Osteopenia, Osteoporosis, Pectus excavatum, Pes cavus, Polyhydramnios, Polymicrogyria, Primary adrenal insufficiency, Primary amenorrhea, Renal cyst, Retrognathia, Scaphocephaly, Scoliosis, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Short stature, Spastic diplegia, Split hand, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Undetectable electroretinogram, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Visual loss

behavior/neurological phenotype, decreased eosinophil cell number, decreased litter size, growth/size/body region phenotype, increased anxiety-related response, increased fatty acids level, increased grip strength, irregularly shaped pupil, limb grasping, microgliosis, nervous system phenotype, neuron degeneration, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance, reduced female fertility, reduced male fertility, reproductive system phenotype, seminiferous tubule degeneration, short stride length, small uterus