Reference | Variants | Neuropsychiatric manifestations | Facies | Other findings |
---|---|---|---|---|
Maines et al. (2021) | c.592G > A p.(Glu198Lys) | Developmental delay, Seizures, Hypotonia | Epicanthus and wide forehead, Nystagmus | Hypoglycemia, Macrocephaly with wide open anterior fontanel, Two hemangiomas on the lower lip and the back, Vomiting |
Yan et al. (2021) | c.620G > T p.(Trp207Leu) | GDD, ID, Hypotonia, speech impairment, and behavioral abnormality | Prominent forehead, Open mouth | Macrocephaly, Hypoplastic corpus callosum, Temporal lobe parenchymal atrophy, Enlargement of the ventricular system, Retardation of myelination of white matter |
Madaan et al. (2022) | c.592G > A p.(Glu198Lys) | GDD, Epileptic encephalopathy, Frequent myoclonic seizures, Central hypotonia | Elongated facies, Temporal hollowing, Open mouth | Macrocephaly, Enlarged Virchow–Robin spaces, Delay in social, adaptive, and language, Poor eye contact, communicative abilities, and motor stereotypes |
Walker et al. (2021) | c.748G > A p.(Glu250Lys) | GDD, Moderate ID, ADHD, Early-onset parkinsonism, Left rest tremor, and bradykinesia Latter—left rest tremor and bradykinesia that led to the diagnosis of Parkinson’s disease (PD) | Macrocephaly, Hydrocephalus, Aqueductal stenosis, Auditory disorder | |
Hetzelt et al. (2021) | c.592G > A p.(Glu198Lys) | ID, muscular hypotonia and dystonia, seizures, progressive motor decline, and early-onset levodopa-responsive parkinsonism | Long face and a tent-shape upper lip | Macrocephaly |
Kim et al. (2020) (Duplicate case here reported in Loveday et al. (2015)) | c.598G > A p.(Glu200Lys) | Mild developmental motor and language delay, Mild ID, Gait difficulty and bradykinesia, Levodopa-responsive early-onset parkinsonism | White matter hyperintensities, Hypertension, and diabetes mellitus | |
c.598G > A p.(Glu200Lys) | ID, Rest tremor and myoclonus, Akinetic rigid parkinsonism. Early-onset non-motor features of Levodopa-responsive parkinsonism | Relative paucity of white matter signal abnormality | ||
c.598G > A p.(Glu200Lys) | Motor developmental delay and language acquisition, Mild ID, Rest tremor and incoordination, Early-onset Levodopa-responsive parkinsonism, Dyskinesia | Overgrowth | ||
Yeung et al. (2017) | c.592G > A p.(Glu198Lys) | Moderate GDD, Mild ID, Autism, Epilepsy, Hypotonia | Hypertelorism, Frontal bossing | Megalencephaly |
c.592G > A p.(Glu198Lys) | Moderate GDD, Mild ID, Suspected autism, Epilepsy | Hypertelorism, Frontal bossing | Megalencephaly | |
Shang et al. (2016) | c.592G > A p.(Glu198Lys) | GDD, ID, Autism, Anxiety | Downslanting palpebral fissures, Dolichocephaly | Scoliosis, Myopia, Macrocephaly |
c.592G > A p.(Glu198Lys) | GDD, ID, Autism, Seizures, Hypotonia, Non-verbal | Prominent forehead, Large anterior fontanelle, Mild midface hypoplasia | Failure to thrive, Possible short stature, Macrocephaly, Bilateral small arachnoid cysts, Cavum septum pellucidum | |
c.598G > A p.(Glu200Lys) | GDD, ID, Autism, Hypotonia, Water fascination, Licks items, Excitable, Nystagmus | Plagiocephaly, Triangular face, Long philtrum, Short nose, Thin upper lip, Midface hypoplasia, Slightly low set ears, Cleft palate | Torticollis, Pectus carinatum, Clinodactyly and malformation of toes, Rotational delayed visual maturation, Atrial and ventricular septal defects, Bicuspid aortic valve, Short stature, Easy bruising | |
c.1258G > A p.(Glu420Lys) | GDD, ID, Autism, Hypotonia, Non-verbal, Aggressive, Stereotypies, Impulse control issues, Ataxia, Wide-based gait, Absent deep tendon reflexes | Alternating esotropia, Macrocephaly, Prominent CSF spaces, Mildly enlarged lateral ventricles, Cavum septum, Cavum verge | ||
c.1258G > A p.(Glu420Lys) | GDD, Hypotonia | Prominent forehead, Slightly low-set ears, High-arched palate, Small nose | Strabismus, Ventricular septal defect, Patent foramen oval, Sinus tachycardia, Macrocephaly, Moderate dilation of lateral ventricles | |
c.1258G > A p.(Glu420Lys) | GDD, ID, Autism, Hypotonia, Tantrums, Perseverative behavior, Wide-based gait | Frontal bossing, Triangular face | Supernumerary nipple, Hypoplastic fifth toenails Astigmatism, Macrocephaly, White matter dysgenesis, Dysmorphic corpus callosum | |
c.589G > A p.(Glu197Lys) | GDD, Moderate ID, Hypotonia, Non-verbal | Mild facial asymmetry | Congenital scoliosis, Difficulty chewing, Macrocephaly | |
Loveday et al. (2015) | c.592G > A p.(Glu198Lys) | ID | Hypospadias, Increased height, macrocephaly | |
c.598G > A p.(Glu200Lys) | ID | Increased height, macrocephaly | ||
c.598G > A p.(Glu200Lys) | ID, Parkinsonism | Increased height, macrocephaly | ||
Houge et al. (2015) | c.157C > T p.(Pro53Ser) | Severe ID, Non-verbal | Cataract | |
c.592G > A p.(Glu198Lys) | Severe ID, Hypotonia, Ataxia | Pseudo-hydrocephalus, macrocephaly | ||
c.592G > A p.(Glu198Lys) | Severe ID, Hypotonia, Non-verbal, Ataxia | NA | ||
c.592G > A p.(Glu198Lys) | Severe ID, Hypotonia | Narrow palate | Increased weight, Fatigue, Hypoglycemia, Abnormal fat oxidation, Bilateral 6th nerve palsy, Hydrocephalus, macrocephaly | |
c.592G > A p.(Glu198Lys) | Severe ID, Epilepsy, Hypotonia, Non-verbal | Mild syndactyly, Mild ventricular dilatation | ||
c.592G > A p.(Glu198Lys) | Severe ID, Epilepsy, Hypotonia, Non-verbal, Ataxia | Increased weight, Scoliosis, Mild ventricular dilatation, Small corpus callosum, macrocephaly | ||
c.592G > A p.(Glu198Lys) | Severe ID, Hypotonia, Non-verbal | Increased height macrocephaly | ||
c.598G > A p.(Glu200Lys) | Mild ID, Hypotonia | Increased weight, Fatigue, Ptosis macrocephaly | ||
c.598G > A p.(Glu200Lys) | Mild ID, Hypotonia, Ataxia | Fatigue, Strabismus macrocephaly | ||
c.602C > G p.(Pro201Arg) | Moderate ID, Epilepsy, Hypotonia, Ataxia | Hip dysplasia, Gastric reflux | ||
c.619 T > A p.(Trp207Arg) | Moderate ID, Hypotonia | Scoliosis, Hip dysplasia, Fatigue, Mild mitochondrial dysplasia, Macrocephaly |