Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone structure, Abnormal CNS myelination, Abnormal cortical gyration, Abnormal electroretinogram, Abnormal facial shape, Abnormal internal genitalia, Abnormality of body height, Abnormality of body weight, Abnormality of bone mineral density, Abnormality of calvarial morphology, Abnormality of central motor function, Abnormality of coordination, Abnormality of cranial sutures, Abnormality of eye movement, Abnormality of facial skeleton, Abnormality of female internal genitalia, Abnormality of fontanelles, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of peripheral nerve conduction, Abnormality of prenatal development or birth, Abnormality of skeletal maturation, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the amniotic fluid, Abnormality of the anterior pituitary, Abnormality of the biliary system, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral cortex, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the digits, Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the extraocular muscles, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the hand, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the hypothalamus-pituitary axis, Abnormality of the inner ear, Abnormality of the kidney, Abnormality of the liver, Abnormality of the lower limb, Abnormality of the mandible, Abnormality of the menstrual cycle, Abnormality of the metencephalon, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the peripheral nervous system, Abnormality of the philtrum, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the thorax, Abnormality of the upper limb, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of toe, Abnormality of vision, Abnormal location of ears, Abnormal muscle tone, Abolished electroretinogram (ERG), Age of onset, All, Amenorrhea, 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 skeleton, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the mandible, Ascites, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Atrophy/Degeneration of the corpus callosum, Autosomal recessive inheritance, Bile duct proliferation, Biliary tract abnormality, Calcific stippling, Cerebral atrophy, Cerebral dysmyelination, Cerebral hypoplasia, Cholestasis, Cognitive impairment, Cortical dysplasia, Decreased body weight, Decreased muscle mass, Decreased nerve conduction velocity, Delayed cranial suture closure, Delayed skeletal maturation, Dolichocephaly, Ectopic calcification, Ectrodactyly, Ectrodactyly (hands), Epicanthus, Failure to thrive, Fetal ascites, Functional abnormality of the inner ear, Gait ataxia, Gait disturbance, Generalized cerebral atrophy/hypoplasia, Gliosis, Global developmental delay, Gonadal dysgenesis, Gonadotropin excess, Growth abnormality, Growth delay, Hammertoe, Hearing abnormality, Hearing impairment, Hepatic steatosis, Hepatomegaly, High forehead, High palate, Hyperpituitarism, Hypertelorism, Infantile onset, Large fontanelles, Limited extraocular movements, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Narrow palate, Neonatal hypotonia, Nystagmus, Onset, Onset and clinical course, Osteopenia, Osteoporosis, Pectus excavatum, Phenotypic abnormality, Polyhydramnios, Polymicrogyria, Positional foot deformities, Primary amenorrhea, Puberty and gonadal disorders, Reduced bone mineral density, Renal cysts, Retrognathia, Seizures, Sensorineural hearing impairment, Short stature, Slanting of the palpebral fissure, Strabismus, Talipes, Talipes equinovarus, Thoracic hypoplasia, Upslanted palpebral fissure, Ventriculomegaly, Visceromegaly, Visual impairment, Visual loss.