Arthralgia, Arthrogryposis multiplex congenita, Axial hypotonia, Bilateral single transverse palmar creases, Blepharophimosis, Brachycephaly, Breech presentation, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Cerebellar atrophy, Cerebral atrophy, Chin with H-shaped crease, Congenital contracture, Constipation, Cryptorchidism, Decreased fetal movement, Decreased motor nerve conduction velocity, Deeply set eye, Delayed speech and language development, Dental crowding, Depressed nasal ridge, Dimple chin, Distal arthrogryposis, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged naris, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flexion contracture of finger, Flexion contracture of toe, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hernia, High palate, Hip contracture, Hip dislocation, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Joint contracture of the hand, Joint dislocation, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Long philtrum, Low-set ears, Macrotia, Malar flattening, Malignant hyperthermia, Mandibular prognathia, Mask-like facies, Metatarsus adductus, Microcephaly, Micrognathia, Motor delay, Muscle weakness, Narrow face, Narrow mouth, Nasal speech, Neurological speech impairment, Nystagmus, Oligohydramnios, Optic atrophy, Overlapping fingers, Pectus carinatum, Polyhydramnios, Poor eye contact, Poor speech, Prenatal movement abnormality, Prominent forehead, Prominent nasolabial fold, Protruding ear, Psychomotor retardation, Ptosis, Pursed lips, Recurrent fractures, Recurrent respiratory infections, Respiratory insufficiency, Restricted neck movement due to contractures, Rocker bottom foot, Round ear, Scoliosis, Seizure, Short columella, Short neck, Short nose, Short stature, Shoulder flexion contracture, Skeletal muscle atrophy, Slender nose, Small for gestational age, Smooth philtrum, Spastic tetraplegia, Spina bifida occulta, Strabismus, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thin upper lip vermilion, Triangular face, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Umbilical hernia, Underdeveloped nasal alae, Vertebral segmentation defect, Webbed neck, Whistling appearance, Wide mouth, Wide nasal bridge, Wrist flexion contracture

embryo phenotype, impaired ability to fire action potentials, lethality at weaning, complete penetrance, neonatal lethality, complete penetrance, preweaning lethality, complete penetrance