Delayed speech and language development, Distal amyotrophy, Esotropia, Feeding difficulties, Frontal bossing, Gait ataxia, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, High forehead, Hip dysplasia, Hypertrophic cardiomyopathy, Inability to walk, Increased circulating lactate concentration, Intellectual disability, Long face, Lower limb amyotrophy, Mandibular prognathia, Micrognathia, Myopia, Nystagmus, Optic atrophy, Optic nerve hypoplasia, Pectus carinatum, Peripheral axonal neuropathy, Poor speech, Positional foot deformity, Scoliosis, Seizure, Short nose, Sleep disturbance, Spastic gait, Spasticity, Upslanted palpebral fissure

abnormal trophectoderm morphology, absent ectoplacental cone, absent extraembryonic ectoderm, decreased grip strength, decreased locomotor activity, decreased mitochondrial DNA content, decreased mitochondrial size, decreased skeletal muscle weight, disorganized mitochondrial cristae, embryonic growth retardation, embryonic lethality between implantation and placentation, complete penetrance, failure to gastrulate, growth/size/body region phenotype, increased fasting circulating glucose level, preweaning lethality, complete penetrance, skeletal muscle fiber atrophy, skeletal muscle fiber degeneration, small embryonic epiblast, weakness