Cerebral cortical atrophy, Cerebral white matter atrophy, Cessation of head growth, Coarse facial features, Cognitive impairment, Congenital hypothyroidism, Contractures of the large joints, Delayed myelination, Delayed speech and language development, Dysphagia, Dystonia, Edema, Edema of the dorsum of feet, Edema of the dorsum of hands, Exaggerated startle response, Failure to thrive, Feeding difficulties, Generalized-onset seizure, Global developmental delay, High palate, Hirsutism, Hyperextensibility of the finger joints, Hyperhidrosis, Hypomimic face, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired oropharyngeal swallow response, Intellectual disability, Ischemic stroke, Kyphosis, Leukoencephalopathy, Limb hypertonia, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Nystagmus, Optic atrophy, Palmoplantar hyperhidrosis, Pectus carinatum, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Progressive leukoencephalopathy, Progressive microcephaly, Progressive spastic quadriplegia, Respiratory insufficiency, Rigidity, Rocker bottom foot, Seizure, Sensorineural hearing impairment, Short nose, Single transverse palmar crease, Smooth philtrum, Spasticity, Tented upper lip vermilion, Ventriculomegaly, obsolete Central hypotonia

decreased locomotor activity, decreased skeletal muscle fiber diameter, decreased survivor rate, impaired balance, limb grasping, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, skeletal muscle fiber atrophy, skeletal muscle necrosis, small cerebellum, weakness