Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal delivery, Abnormal external genitalia, Abnormal facial expression, Abnormal facial shape, Abnormal internal genitalia, Abnormality of body height, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of connective tissue, Abnormality of facial skeleton, Abnormality of finger, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of mouth shape, Abnormality of mouth size, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pelvic girdle bone morphology, Abnormality of phalangeal joints of the hand, Abnormality of phalanx of finger, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal wall, Abnormality of the brainstem, Abnormality of the calcaneus, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the cervical spine, Abnormality of the chin, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the metatarsal bones, Abnormality of the metencephalon, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nasal alae, Abnormality of the nasal bridge, Abnormality of the nasolabial region, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the philtrum, Abnormality of the respiratory system, Abnormality of the shoulder, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the spinal cord, Abnormality of the talus, Abnormality of the tarsal bones, Abnormality of the testis, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the tongue, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vertebral column, Abnormality of the voice, Abnormality of the wrist, Abnormality of the zygomatic arch, Abnormal joint morphology, Abnormal nasal morphology, Abnormal shape of the frontal region, Abnormal size of the palpebral fissures, Adducted thumb, All, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the tongue, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Blepharophimosis, Breech presentation, Calcaneovalgus deformity, Camptodactyly of finger, Cerebellar atrophy, Chin dimple, Cognitive impairment, Congenital contractures, Contractures of the joints of the lower limbs, Contractures of the joints of the upper limbs, Cryptorchidism, Decreased body weight, Decreased facial expression, Deeply set eye, Deviation of the hand or of fingers of the hand, Downslanted palpebral fissures, Epicanthus, Failure to thrive, Flexion contracture, Flexion contracture of finger, Frontal bossing, Generalized abnormality of skin, Growth abnormality, Growth delay, Hernia, Hernia of the abdominal wall, High palate, Hip contracture, Hip dislocation, Hypoplasia of the brainstem, Hypoplastic nasal alae, Inguinal hernia, Intellectual disability, Joint contracture of the hand, Joint dislocation, Kyphoscoliosis, Kyphosis, Limb joint contracture, Limitation of joint mobility, Limited hip movement, Long philtrum, Malar flattening, Mask-like facies, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Narrow mouth, Narrow palate, Nasal speech, Phenotypic abnormality, Positional foot deformities, Prominent nasolabial fold, Ptosis, Pursed lips, Scoliosis, Seizures, Short neck, Short nose, Short stature, Shoulder flexion contracture, Slanting of the palpebral fissure, Small for gestational age, Spina bifida, Spina bifida occulta, Spinal dysraphism, Strabismus, Talipes, Talipes equinovarus, Telecanthus, Thickened skin, Thoracoabdominal wall defects, Triangular face, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Vertical talus, Webbed neck, Whistling appearance, Wide nasal bridge, Widening of cervical spinal canal.