Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal form of the vertebral bodies, Abnormal internal genitalia, Abnormality of body height, Abnormality of calvarial morphology, Abnormality of cranial sutures, Abnormality of dental eruption, Abnormality of dental structure, Abnormality of earlobe, Abnormality of fontanelles, Abnormality of globe location, Abnormality of hair density, Abnormality of hair texture, Abnormality of head and neck, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of mouth size, Abnormality of pelvic girdle bone morphology, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the anterior fontanelle, Abnormality of the anterior segment of the eye, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the forehead, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the head, Abnormality of the hip bone, Abnormality of the ilium, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the lens, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the male genitalia, Abnormality of the midface, Abnormality of the mouth, Abnormality of the nasal bridge, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the pinna, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the supraorbital ridges, Abnormality of the teeth, Abnormality of the testis, Abnormality of the vasculature, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the wing of the ilium, Abnormality of the zygomatic arch, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormal joint morphology, Abnormal shape of the frontal region, All, Autosomal recessive inheritance, Capillary hemangiomas, Carious teeth, Cataract, Coarse hair, Congenital earlobe sinuses, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, Generalized abnormality of skin, Growth abnormality, Growth delay, Hemangioma, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Irregular hyperpigmentation, Joint hypermobility, Joint laxity, Large fontanelles, Malar flattening, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the skin, Pes planus, Phenotypic abnormality, Posterior wedging of vertebral bodies, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Sparse hair, Sutural cataract, Thin lips, Thin upper lip vermilion, Vascular neoplasm, Vertebral wedging, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Zonular cataract.