All individuals with variants in gene MAPK8IP3

22 entries on 1 page. Showing entries 1 - 22.
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AscendingIndividual ID     
ID_report     
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VIP     
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Treatment     
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00213145 Pat1 PubMed: Platzer 2019 - M - - - - - - - ID moderate intellectual disability (IQ48); autism spectrum disorder; no seizures; muscular hypotonia, ataxia; no microcephaly; cerebellar atrophy, white-matter hyperintensity in posterior limbs of internal capsules; scoliosis 1 1 Johan den Dunnen
00213146 Pat2 PubMed: Platzer 2019 - M - - - - - - - ID severe intellectual disability; no autism spectrum disorder; no seizures; muscular hypotonia, ataxia; no microcephaly; no brain anomalies 1 1 Johan den Dunnen
00213147 Pat3 PubMed: Platzer 2019 - M - - - - - - - ID moderate intellectual disability; no autism spectrum disorder; no seizures; muscular hypotonia; no microcephaly; no brain anomalies 1 1 Johan den Dunnen
00213148 Pat4 PubMed: Platzer 2019 - M - - - - - - - ID mild intellectual disability; autism spectrum disorder; no seizures; no muscular hypotonia; no microcephaly 1 1 Johan den Dunnen
00213149 Pat5 PubMed: Platzer 2019 - M - - - - - - - ID moderate intellectual disability (IQ49); no autism spectrum disorder; generalized seizure (1x); muscular hypotonia; no microcephaly; perisylvian polymicrogyria 1 3 Johan den Dunnen
00213150 Pat6 PubMed: Platzer 2019 - F - - - - - - - ID mild intellectual disability; no autism spectrum disorder; no seizures; muscular hypotonia; no microcephaly; perisylvian polymicrogyria; scoliosis 1 1 Johan den Dunnen
00213151 Pat7 PubMed: Platzer 2019 - F - - - - - - - ID mild intellectual disability; no autism spectrum disorder; no seizures; no muscular hypotonia; microcephaly (-2.7SD); no brain anomalies 1 1 Johan den Dunnen
00213152 Pat8 PubMed: Platzer 2019 - F - - - - - - - ID severe intellectual disability; no autism spectrum disorder; generalized seizure (1x); muscular hypotonia, spasticity; microcephaly (-2.5SD); cerebral atrophy, white-matter volume loss, thin CC with hypoplasia of rostrum and splenium, cerebellar atrophy; short stature 1 1 Johan den Dunnen
00213153 Pat9 PubMed: Platzer 2019 - F - - - - - - - ID moderate intellectual disability; no autism spectrum disorder; generalized seizure (1x); muscular hypotonia, spasticity; microcephaly (-2.5SD); cerebral atrophy, white-matter volume loss, thin CC, cerebellar hypoplasia predominant in inferior vermis; short stature 1 1 Johan den Dunnen
00213154 Pat10 PubMed: Platzer 2019 - M - - - - - - - ID moderate intellectual disability; no autism spectrum disorder; generalized seizures; muscular hypotonia; no microcephaly; no brain anomalies 1 1 Johan den Dunnen
00213155 Pat11 PubMed: Platzer 2019 - F - - - - - - - ID mild intellectual disability; no autism spectrum disorder; no seizures; spasticity; no microcephaly; mild cerebral atrophy, white-matter volume loss, thin corpus callosum; cortical visual impairment 1 1 Johan den Dunnen
00213156 Pat12 PubMed: Platzer 2019 - F - - - - - - - ID severe intellectual disability; no autism spectrum disorder; no seizures; spasticity; no microcephaly; short corpus callosum 1 1 Johan den Dunnen
00213157 Pat13 PubMed: Platzer 2019 - F - - - - - - - ID moderate intellectual disability (IQ49); no autism spectrum disorder; no seizures; muscular hypotonia, unstable gait; no microcephaly; white-matter volume loss, thin corpus callosum; cortical visual impairment; scoliosis 1 1 Johan den Dunnen
00375618 - - - M - - - - - - - ? Ureteral stenosis (HP:0000071); Global developmental delay (HP:0001263); Absent speech (HP:0001344); Abnormal heart morphology (HP:0001627); Abnormal renal morphology (HP:0012210) 1 1 IMGAG
00376457 Fam1Pat1 PubMed: Iwasawa 2019 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Japan - - - - - NDD birth-39w; delayed motor development; head control-2.5m;; sit-7m; never crawled; never walked; severe intellectual disability; no autistic behavior; language comprehension; speech simple two-word sentences; spastic diplegia; wheelchair bound; no infantile hypotonia; no history of regression; no epilepsy; EEG high-voltage slow waves with spikes; MRI brain cerebral atrophy; delayed myelination; corpus callosum hypoplasia; round face; no prominent nasal bridge; thin upper lip; short stature; obesity; precocious puberty 1 2 Johan den Dunnen
00376458 Fam1Pat2 PubMed: Iwasawa 2019 sister F - Japan - - - - - NDD birth-40w; delayed motor development; head control-3.5m; roll-11m; sit-6m; crawl-11m; never walked; severe intellectual disability; no autistic behavior; language comprehension; speech simple two-word sentences; spastic diplegia; wheelchair bound; no infantile hypotonia; no history of regression; epilepsy; EEG high-voltage slow waves with spikes; MRI brain cerebral atrophy; delayed myelination; corpus callosum hypoplasia; round face; no prominent nasal bridge; thin upper lip; short stature; obesity; precocious puberty 1 1 Johan den Dunnen
00376459 Fam2Pat3 PubMed: Iwasawa 2019 - M - Japan - - - - - NDD birth-40w; delayed motor development; head control-4m; roll-6m; never sit; never walked; profound intellectual disability; no autistic behavior; language comprehension; speech simple words; spastic diplegia; wheelchair bound; no infantile hypotonia; no history of regression; epilepsy; EEG 3-Hz spike-wave discharges on the right frontal quadrant during sleep; MRI brain cerebral atrophy (mild, right hemisphere); no delayed myelination; corpus callosum hypoplasia; no round face; prominent nasal bridge; thin upper lip; short stature; obesity 1 1 Johan den Dunnen
00376460 Fam3Pat4 PubMed: Iwasawa 2019 - M - Japan - - - - - NDD birth-36w; delayed motor development; head control-5m; roll-7m; sit-15m; crawl-18m; never walked; severe intellectual disability; autistic behavior; no language comprehension; no speech; no spastic diplegia; cruising; infantile hypotonia; no history of regression; no epilepsy; EEG nomal; MRI brain cerebral atrophy; no delayed myelination; corpus callosum hypoplasia; round face; prominent nasal bridge; thin upper lip; short stature; no obesity; no precocious puberty 1 1 Johan den Dunnen
00376461 Fam4Pat5 PubMed: Iwasawa 2019 - F - Japan - - - - - NDD birth-41w; delayed motor development; head control-6m; roll-6m; sit-11m; crawl-18m; walk-48m; severe intellectual disability; autistic behavior; no language comprehension; no speech; spastic diplegia; able to walk; infantile hypotonia; no history of regression; no epilepsy; MRI brain cerebral atrophy; delayed myelination; corpus callosum hypoplasia; round face; prominent nasal bridge; thin upper lip; long and thick eyebrows, upper slanted palpebral fissures, anteverted nares, short philtrum; no short stature; no obesity; no precocious puberty 1 1 Johan den Dunnen
00376462 private email contact me for details - M - Bulgaria - - - - - NDD 4m-struggling to achieve developmental milestones, head control-4m, sit-10m, stand-12m, crawl-13, started walk-17m; hypotonia, sensory integration dysfunction, general coordination dysfunction; 3y-walks alone, but some poor balance and coordination; able to understand, limited speech, few words; some autistic spectrum disorders, incl. stimmings; delayed fine motor skills; smiley, social kid, good eye contact; short stature (92cm), weight 13kg 1 1 Johan den Dunnen
00391223 187184 - - M no Germany - - - - - NEDBA Thick eyebrow, Autistic behavior, Autism with high cognitive abilities, Goiter, Long hallux, Sandal gap, Truncal obesity, Clumsiness, Highly arched eyebrow, Large earlobe 1 1 Andreas Laner
00436279 269025 - - F no ? (unknown) - - - - - NEDBA Intellectual disability, Increased body weight, EEG abnormality, EEG with spike-wave complexes, Abnormal repetitive mannerisms, Hyperactivity, Delayed speech and language development, Neurodevelopmental delay 1 1 Andreas Laner
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