Abnormal axial skeleton morphology, Abnormal bone structure, Abnormal external genitalia, Abnormal hair quantity, Abnormal internal genitalia, Abnormality of body height, Abnormality of bone mineral density, Abnormality of central motor function, Abnormality of corneal size, Abnormality of globe size, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skull size, Abnormality of the anterior segment of the eye, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the cornea, Abnormality of the corpus callosum, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the head, Abnormality of the integument, Abnormality of the lens, Abnormality of the male genitalia, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the optic nerve, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the pinna, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the testis, Abnormality of the vertebral column, Abnormal muscle tone, Agenesis of corpus callosum, All, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Cataract, Cerebral atrophy, Cognitive impairment, Congenital cataract, Cryptorchidism, Dysplastic corpus callosum, Facial hypertrichosis, Genital hypoplasia, Growth abnormality, Growth delay, Hyperreflexia, Hypertonia, Hypertrichosis, Hypoplasia of the corpus callosum, Intellectual disability, Kyphoscoliosis, Kyphosis, Macrotia, Microcephaly, Microcornea, Microphthalmos, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Optic atrophy, Osteoporosis, Phenotypic abnormality, Ptosis, Reduced bone mineral density, Scoliosis, Short stature, Spastic diplegia, Spasticity.