Human (107 sources):
Abnormal abdomen morphology,
Abnormality of eye movement,
Abnormality of masticatory muscle,
Abnormality of pelvic girdle bone morphology,
Abnormality of the immune system,
Abnormality of the musculature of the upper limbs,
Absent palmar crease,
Absent septum pellucidum,
Akinesia,
Ankle weakness,
Arthrogryposis multiplex congenita,
Blepharophimosis,
Bradykinesia,
Camptodactyly of finger,
Cavum septum pellucidum,
Cerebellar hypoplasia,
Cleft palate,
Cryptorchidism,
Cyanosis,
Cystic hygroma,
Dandy-Walker malformation,
Decreased fetal movement,
Decreased miniature endplate potentials,
Decreased muscle mass,
Decreased size of nerve terminals,
Delayed gross motor development,
Dental malocclusion,
Depressed nasal bridge,
Depressed nasal tip,
Diplopia,
Drowsiness,
Dysarthria,
Dysphagia,
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,
EMG: myopathic abnormalities,
Easy fatigability,
Elbow ankylosis,
Excessive daytime somnolence,
Exertional dyspnea,
Facial palsy,
Fatigable weakness,
Fatigable weakness of neck muscles,
Fatigable weakness of respiratory muscles,
Feeding difficulties,
Fetal akinesia sequence,
Flexion contracture,
Generalized amyotrophy,
Generalized hypotonia,
Gowers sign,
High palate,
High, narrow palate,
Hip flexor weakness,
Hydrocephalus,
Hypertelorism,
Hypotonia,
Intestinal hypoplasia,
Intrauterine growth retardation,
Long face,
Long philtrum,
Mandibular prognathia,
Micrognathia,
Motor delay,
Multiple joint contractures,
Muscle spasm,
Muscle weakness,
Narrow mouth,
Neck flexor weakness,
Neonatal hypotonia,
Ophthalmoparesis,
Orthopnea,
Polyhydramnios,
Posteriorly rotated ears,
Premature birth,
Proptosis,
Pterygium,
Ptosis,
Pulmonary hypoplasia,
Reduced tendon reflexes,
Reduced vital capacity,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Restrictive ventilatory defect,
Rocker bottom foot,
Scoliosis,
Short neck,
Short palpebral fissure,
Short umbilical cord,
Shoulder girdle muscle weakness,
Skeletal muscle atrophy,
Slender long bone,
Small for gestational age,
Small placenta,
Strabismus,
Talipes equinovarus,
Telecanthus,
Thin ribs,
Thoracic hypoplasia,
Thoracic kyphoscoliosis,
Triceps weakness,
Type 1 muscle fiber predominance,
Type 2 muscle fiber atrophy,
Ulnar deviation of the hand,
Ulnar deviation of the hand or of fingers of the hand,
Upper limb muscle weakness,
Weak cry,
Weakness of long finger extensor muscles,
Weakness of the intrinsic hand muscles
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.