Difficulty walking, Diplopia, Distal amyotrophy, Distal lower limb muscle weakness, Dysphagia, Dysphonia, EEG with polyspike wave complexes, EMG: impaired neuromuscular transmission, EMG: myopathic abnormalities, Easy fatigability, Episodic respiratory distress, Esotropia, Fatigable weakness, Feeding difficulties, Frontalis muscle weakness, Gastroesophageal reflux, Generalized muscle weakness, High palate, Hyporeflexia, Intellectual disability, Intermittent episodes of respiratory insufficiency due to muscle weakness, Kyphoscoliosis, Limb-girdle muscle weakness, Long face, Low-set ears, Microretrognathia, Motor delay, Motor polyneuropathy, Muscle fiber atrophy, Narrow jaw, Nasal regurgitation, Nasal speech, Neck muscle weakness, Nystagmus, Obstructive sleep apnea, Ophthalmoplegia, Pectus carinatum, Pes cavus, Polyhydramnios, Poor head control, Poor suck, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Respiratory arrest, Seizure, Sensorineural hearing impairment, Spinal deformities, Spinal rigidity, Staring gaze, Stridor, Sudden episodic apnea, Waddling gait, Weak cry, obsolete Central hypotonia, obsolete Joint laxity, obsolete Toe walking

abnormal motor capabilities/coordination/movement, abnormal object recognition memory, abnormal pancreatic beta cell physiology, abnormal serotonin level, abnormal skin condition, abnormal spatial learning, behavior/neurological phenotype, blotchy skin, convulsive seizures, decreased body size, decreased circulating ghrelin level, decreased embryo size, decreased food intake, decreased glucagon secretion, decreased insulin secretion, decreased locomotor activity, decreased paired-pulse facilitation, decreased prepulse inhibition, decreased synaptic glutamate release, decreased vertical activity, decreased width of hypertrophic chondrocyte zone, delayed eyelid opening, disheveled coat, enhanced paired-pulse facilitation, improved glucose tolerance, increased anxiety-related response, increased body mass index, increased food intake, increased susceptibility to diet-induced obesity, increased thigmotaxis, increased white adipose tissue amount, increased white fat cell size, neonatal lethality, complete penetrance, no abnormal phenotype detected, no spontaneous movement, postnatal lethality, incomplete penetrance, premature death, taste/olfaction phenotype, thin diaphragm muscle, unresponsive to tactile stimuli