Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone structure, Abnormal diaphysis morphology, Abnormal external genitalia, Abnormal form of the vertebral bodies, Abnormal hair quantity, Abnormal internal genitalia, Abnormal joint morphology, Abnormal location of ears, Abnormal nasal morphology, Abnormality involving the diaphyses of the limbs, Abnormality of body height, Abnormality of body weight, Abnormality of bone mineral density, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of earlobe, Abnormality of facial skeleton, Abnormality of finger, Abnormality of hair texture, Abnormality of head and neck, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of phalanx of finger, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin adnexa, Abnormality of the abdomen, Abnormality of the abdominal wall, Abnormality of the calvaria, Abnormality of the carpal bones, Abnormality of the central nervous system, Abnormality of the cerebral ventricles, Abnormality of the cervical spine, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the elbow, Abnormality of the external nose, Abnormality of the eyebrow, Abnormality of the eyelashes, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the forearm, Abnormality of the frontal sinuses, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the head, Abnormality of the humeroradial joint, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the knees, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the middle ear, Abnormality of the mouth, Abnormality of the nail, Abnormality of the nares, Abnormality of the nasal alae, 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 outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the phalanges of the toes, Abnormality of the philtrum, Abnormality of the pinna, Abnormality of the radial head, Abnormality of the radius, Abnormality of the sella turcica, Abnormality of the sinuses, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the umbilicus, Abnormality of the upper limb, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the wrist, Abnormality of toe, Absent frontal sinuses, Acroosteolysis (feet), All, Anteverted nares, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving the sinuses, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the frontal sinuses, Aplasia/Hypoplasia of the mandible, Autosomal dominant inheritance, Biconcave vertebral bodies, Bowing of the legs, Bowing of the long bones, Cervical instability, Coarse hair, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased body weight, Deformed sella turcica, Dental malocclusion, Dislocated radial head, Displacement of the external urethral meatus, Downslanted palpebral fissures, Elbow dislocation, Elongated sella turcica, Epicanthus, Facial hypertrichosis, Failure to thrive, Functional abnormality of the middle ear, Genu valgum, Genu varum, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hernia, Hernia of the abdominal wall, High palate, Hirsutism, Hydrocephalus, Hypertrichosis, Hypospadias, Increased susceptibility to fractures, Increased vertebral height, Inguinal hernia, Joint dislocation, Joint hypermobility, Joint laxity, Kyphoscoliosis, Kyphosis, Large earlobe, Long eyelashes, Long philtrum, Low-set ears, Medial flaring of the eyebrow, Micrognathia, Misalignment of teeth, Mode of inheritance, Morphological abnormality of the central nervous system, Nail dysplasia, Narrow palate, Osteolysis, Osteolysis involving bones of the feet, Osteolysis involving bones of the lower limbs, Osteolytic defects of the hand bones, Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes, Osteopenia, Osteoporosis, Pathologic fracture, Phenotypic abnormality, Premature loss of teeth, Reduced bone mineral density, Scoliosis, Short nail, Short neck, Short stature, Slanting of the palpebral fissure, Spinal instability, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Thick eyebrow, Thoracoabdominal wall defects, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones.