Abnormality of the skin, Abnormality of the urinary system, Abnormality of toe, Absent fingernail, Adrenal hyperplasia, Aggressive behavior, Ambiguous genitalia, Anonychia, Anterior plagiocephaly, Anteverted nares, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Arrhinencephaly, Aspiration pneumonia, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autistic behavior, Bilateral ptosis, Bilateral sensorineural hearing impairment, Bilateral tonic-clonic seizure, Blindness, Brachycephaly, Brachydactyly, Broad alveolar ridges, Broad nasal tip, Bulbous nose, Capillary hemangioma, Cataract, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital hypothyroidism, Congenital nystagmus, Cutaneous syndactyly, Cystic renal dysplasia, Dandy-Walker malformation, Delayed CNS myelination, Delayed eruption of permanent teeth, Delayed fine motor development, Delayed myelination, Developmental regression, Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Double outlet right ventricle, Downturned corners of mouth, Dysarthria, Dystonia, EEG abnormality, EEG with irregular generalized spike and wave complexes, EEG with parietal focal spike waves, EEG with parietal sharp waves, Epicanthus, Epileptic encephalopathy, Equinovarus deformity, Everted lower lip vermilion, Excessive daytime sleepiness, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Focal hemifacial clonic seizure, Focal impaired awareness seizure, Focal-onset seizure, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizure, Generalized neonatal hypotonia, Generalized non-motor (absence) seizure, Gingival overgrowth, Global developmental delay, Hearing impairment, Hemiparesis, Hemiplegia, Hemivertebrae, High myopia, High palate, Horizontal nystagmus, Hydronephrosis, Hypertelorism, Hyporeflexia, Increased urine alpha-ketoglutarate concentration, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Irritability, Language impairment, Leber optic atrophy, Long philtrum, Low anterior hairline, Low-set ears, Lumbar scoliosis, Macrodontia of permanent maxillary central incisor, Malalignment of the great toenail, Mental deterioration, Microcephaly, Muscular hypotonia, Myoclonus, Myopia, Nail dysplasia, Nail dystrophy, Narrow palate, Nephrocalcinosis, Open mouth, Optic atrophy, Paroxysmal dystonia, Peripheral neuropathy, Photosensitive tonic-clonic seizure, Polyhydramnios, Polymicrogyria, Polyneuropathy, Poor suck, Poor visual behavior for age, Postnatal microcephaly, Profound sensorineural hearing impairment, Progressive hearing impairment, Prolonged somatosensory evoked potentials, Prominent nose, Prominent occiput, Psychomotor retardation, Recurrent upper respiratory tract infections, Renal agenesis, Respiratory distress, Sagittal craniosynostosis, Seizure, Sensorineural hearing impairment, Severe muscular hypotonia, Short 5th finger, Short distal phalanx of finger, Short lingual frenulum, Sirenomelia, Small cerebellar cortex, Spina bifida occulta, Status epilepticus, Strabismus, Thick lower lip vermilion, Thickened nuchal skin fold, Thin upper lip vermilion, Thrombocytosis, Toenail dysplasia, Tremor, Triphalangeal thumb, Ventriculomegaly, Visual loss, Wide nasal base, Wide nasal bridge, Widely spaced teeth, Writer's cramp

increased cellular sensitivity to oxidative stress, increased prepulse inhibition, nervous system phenotype, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance