Broad finger, Broad forehead, Broad nasal tip, Broad phalanx of the toes, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Choreoathetosis, Chorioretinal coloboma, Cleft palate, Decreased body weight, Delayed myelination, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Dilated fourth ventricle, Dyskinesia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with spike-wave complexes, Epicanthus, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties in infancy, Gait disturbance, Generalized clonic seizure, Generalized hypotonia, Generalized non-motor (absence) seizure, Generalized tonic seizure, Global developmental delay, Hearing impairment, High palate, Hyperactivity, Hyperreflexia, Hypertelorism, Hypohidrosis, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Intellectual disability, moderate, Long philtrum, Macrogyria, Macrotia, Microcephaly, Micrognathia, Micropenis, Muscle weakness, Myoclonus, Myopia, Neonatal hypotonia, Nystagmus, Optic atrophy, Optic disc pallor, Optic nerve hypoplasia, Oval face, Pachygyria, Poor head control, Precocious puberty, Progressive microcephaly, Prominent forehead, Prominent nasal bridge, Renal dysplasia, Rigidity, Scoliosis, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Severe global developmental delay, Short finger, Short nose, Short stature, Sleep disturbance, Sloping forehead, Spasticity, Strabismus, Tremor, Umbilical hernia, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Ventricular septal defect, Visual impairment, Wide nasal bridge, obsolete Focal seizures, afebril

focal hair loss, hunched posture, increased neuron apoptosis, kinked tail, neonatal lethality, complete penetrance, nervous system phenotype, palatal shelves fail to meet at midline, pointed snout, postnatal lethality, premature death, reduced female fertility, short mandible