Abnormal aggressive, impulsive or violent behavior, Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormal emotion/affect behavior, Abnormality of calvarial morphology, Abnormality of central motor function, Abnormality of coordination, Abnormality of cranial sutures, Abnormality of eye movement, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of mouth size, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the external nose, Abnormality of the eye, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the lip, Abnormality of the metencephalon, Abnormality of the metopic suture, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the outer ear, Abnormality of the philtrum, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormal location of ears, Abnormal muscle tone, Abnormal nasal morphology, Age of onset, Aggressive behavior, All, Amyotrophy, Anteverted nares, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autism, Autism spectrum disorder, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Brachycephaly, Brisk reflexes, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Distal amyotrophy, Encephalopathy, Gait ataxia, Gait disturbance, Growth abnormality, Growth delay, Hyperactivity, Hyperreflexia, Hypertonia, Hypomyelination, Impaired social interactions, Inability to walk, Inappropriate behavior, Inappropriate laughter, Infantile onset, Intellectual disability, Intellectual disability, mild, Intellectual disability, progressive, Interosseus muscle atrophy, Involuntary movements, Low-set ears, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Myoclonus, Nystagmus, Onset, Onset and clinical course, Opisthotonus, Phenotypic abnormality, Poor eye contact, Prominent metopic ridge, Seizures, Self-injurious behavior, Self-mutilation, Short nose, Smooth philtrum, Spasticity, Strabismus, Thin lips, Thin upper lip vermilion, Wide mouth.