Abnormality of movement, Abnormality of the dentition, Abnormality of the metacarpal bones, Absent speech, Acrocyanosis, Aggressive behavior, Anorexia, Anxiety, Aplasia/Hypoplasia of the cerebellum, Apnea, Apraxia, Arrhythmia, Arthrogryposis multiplex congenita, Ataxia, Attention deficit hyperactivity disorder, Autism, Autistic behavior, Axial hypotonia, Babinski sign, Behavioral abnormality, Bilateral tonic-clonic seizure, Bipolar affective disorder, Blepharophimosis, Brachycephaly, Broad nasal tip, Broad-based gait, Bruxism, Cachexia, Camptodactyly of finger, Central hypoventilation, Cerebral cortical atrophy, Chiari malformation, Chorea, Choreoathetosis, Clinodactyly of the 2nd toe, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Cryptorchidism, Decreased muscle mass, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dementia, Depressed nasal bridge, Depression, Developmental regression, Downslanted palpebral fissures, Drooling, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Encephalopathy, Epicanthus, Everted lower lip vermilion, Excessive salivation, Facial hypotonia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Fine hair, Focal EEG discharges with secondary generalization, Gait apraxia, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Gastroschisis, Generalized non-motor (absence) seizure, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatomegaly, High palate, Hostility, Hyperactive deep tendon reflexes, Hyperactivity, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Irritability, Joint stiffness, Kyphoscoliosis, Kyphosis, Long palpebral fissure, Long philtrum, Low-set ears, Lower limb hyperreflexia, Lower limb spasticity, Macrocephaly, Macroorchidism, Macrotia, Malar flattening, Meckel diverticulum, Microcephaly, Micrognathia, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Motor deterioration, Motor stereotypy, Muscle weakness, Myoclonus, Narrow foot, Narrow mouth, Nephrolithiasis, Neurological speech impairment, Obesity, Parkinsonism, Pectus excavatum, Periorbital fullness, Pes cavus, Pes planus, Polymicrogyria, Poor eye contact, Poor speech, Progressive microcephaly, Progressive spasticity, Prolonged QTc interval, Psychomotor retardation, Psychosis, Ptosis, Pyloric stenosis, Recurrent respiratory infections, Respiratory insufficiency, Resting tremor, Rigidity, Scoliosis, Secondary microcephaly, Seizure, Self-injurious behavior, Severe global developmental delay, Short foot, Short neck, Short stature, Shortening of all distal phalanges of the fingers, Shuffling gait, Skeletal muscle atrophy, Sleep disturbance, Small for gestational age, Spastic gait, Spasticity, Stooped posture, Stroke, Tented upper lip vermilion, Tetraplegia, Thick lower lip vermilion, Thick vermilion border, Thin fingernail, Thin upper lip vermilion, Tremor, Truncal ataxia, Underdeveloped nasal alae, Urinary incontinence, Ventriculomegaly, Wide mouth, Wide nose, Widened subarachnoid space

abnormal cued conditioning behavior, abnormal dendrite morphology, abnormal dentate gyrus morphology, abnormal dosage compensation, by inactivation of X chromosome, abnormal excitatory postsynaptic currents, abnormal excitatory postsynaptic potential, abnormal hearing physiology, abnormal heart rate, abnormal heartbeat, abnormal hippocampus CA2 region morphology, abnormal hippocampus neuron morphology, abnormal hippocampus physiology, abnormal hippocampus pyramidal cell morphology, abnormal locomotor activation, abnormal locomotor behavior, abnormal locomotor coordination, abnormal long term object recognition memory, abnormal miniature excitatory postsynaptic currents, abnormal miniature inhibitory postsynaptic currents, abnormal motor capabilities/coordination/movement, abnormal motor learning, abnormal nest building behavior, abnormal orbitofrontal cortex morphology, abnormal parasympathetic nervous system physiology, abnormal pilomotor reflex, abnormal placenta morphology, abnormal response to novel object, abnormal response to novelty, abnormal social investigation, abnormal spatial learning, abnormal sympathetic nervous system physiology, abnormal synaptic neurotransmitter level, abnormal synaptic vesicle number, abnormal touch/ nociception, abnormal vibrissa morphology, behavior/neurological phenotype, cardiovascular system phenotype, decreased CNS synapse formation, decreased anxiety-related response, decreased brain size, decreased brain weight, decreased grip strength, decreased locomotor activity, decreased neuron number, decreased noradrenaline level, decreased prepulse inhibition, decreased serotonin level, decreased startle reflex, decreased thigmotaxis, decreased tidal volume, decreased vertical activity, disheveled coat, environmentally induced seizures, focal hair loss, greasy coat, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired contextual conditioning behavior, impaired cued conditioning behavior, increased anxiety-related response, increased brain cholesterol level, increased brain weight, increased fear-related response, increased grooming behavior, increased heart rate variability, increased heart weight, increased liver triglyceride level, increased liver weight, increased placenta apoptosis, increased prepulse inhibition, increased pulmonary respiratory rate, increased response of heart to induced stress, increased susceptibility to age related obesity, increased susceptibility to pharmacologically induced seizures, increased thermal nociceptive threshold, increased total fat pad weight, increased vertical activity, limb grasping, nervous system phenotype, no abnormal phenotype detected, premature death, preweaning lethality, incomplete penetrance, reduced long term potentiation, reproductive system phenotype, respiratory system phenotype, ruffled hair, short stride length, skin lesions, slow postnatal weight gain, sporadic seizures