Abdominal symptom, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal internal genitalia, Abnormality of body height, Abnormality of calvarial morphology, Abnormality of cardiovascular system physiology, Abnormality of facial skeleton, Abnormality of finger, Abnormality of genital physiology, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, 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 skin adnexa, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the anterior segment of the eye, Abnormality of the antitragus, Abnormality of the breast, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the forearm, Abnormality of the forebrain, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the heart, Abnormality of the immune system, Abnormality of the integument, Abnormality of the lens, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the metacarpal bones, Abnormality of the metatarsal bones, Abnormality of the mouth, Abnormality of the myocardium, Abnormality of the nail, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nasal tip, Abnormality of the nervous system, Abnormality of the nipple, 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 philtrum, Abnormality of the pinna, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the toenails, Abnormality of the trachea, Abnormality of the tracheobronchial system, Abnormality of the ulna, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vertebral column, Abnormal joint morphology, Abnormal location of ears, Abnormal nasal morphology, All, Anteverted nares, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the extremities, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the phalanges of the hand, Autosomal recessive inheritance, Brachycephaly, Broad nasal tip, Cardiomyopathy, Cataract, Cognitive impairment, Congestive heart failure, Cryptorchidism, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Genital hypoplasia, Growth abnormality, Growth delay, High palate, Hyperlordosis, Hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplastic genitalia, Intellectual disability, Intellectual disability, progressive, Joint hypermobility, Joint laxity, Lumbar hyperlordosis, Malformation of the heart and great vessels, Metatarsus adductus, Microcephaly, Micrognathia, Micropenis, Misalignment of teeth, Mode of inheritance, Morphological abnormality of the central nervous system, Pectus carinatum, Pectus excavatum, Phenotypic abnormality, Positional foot deformities, Posteriorly rotated ears, Prominent antitragus, Prominent nipples, Puberty and gonadal disorders, Recurrent infections, Recurrent respiratory infections, Respiratory tract infection, Short metacarpal, Short phalanx of finger, Short philtrum, Short stature, Slanting of the palpebral fissure, Slender forearm bones, Slender long bone, Slender ulna, Talipes, Talipes equinovarus, Tracheomalacia.