All individuals with variants in gene MAPK1

7 entries on 1 page. Showing entries 1 - 7.
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00307076 Pat1 PubMed: Motta 2020, Journal: Motta 2020 - M no Italy white - - - - NDD birth height 53 cm (+1.65 SD), weight 3,650 g (+0.6 SD); height 157 cm (-0.04 SD), weight 45.5 kg (-0.01 SD), OFC 59 cm (+2.82 SD); developmental delay; no intellectual disability; no speech dealy; anxiety, reduced stress tolerance; learning disorder; no hypotonia; no epilepsy; mitral regurgitation, mitral valve prolapse, patent foramen ovale; pes planus, scapular winging, cubitus valgus; epicanthal folds, blue eyes, hypertelorism, low- set posteriorly rotated ears, webbed/short neck; curly and thick hair, multiple lentigines; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems 1 1 Johan den Dunnen
00307077 Pat2 PubMed: Motta 2020, Journal: Motta 2020 - M no - white - - - - NDD birth height 47 cm (-2.28 SD), weight 3,350 g (-0.6 SD), OFC 33 cm (-1.32 SD); height 144.6 cm (-0.82 SD), weight 30 kg (-1.99 SD), OFC 52 cm (-1.01 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; hypotonia; no epilepsy; atrial septal defect, mild mitral valve prolapse; pes planus, mild legs asymmetry (5 mm); prominent metopic ridge, bitemporal narrowing, hypertelorism, downslanting palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, prominent and pointed chin, low posterior hairline; 1 cafè au lait spot, 3 hypochromic spots; cryptorchidism; no GER; no recurrent infections; periphery lymphedema; no bleeding, no easy bruising; no hearing problems; cavum setto pellucido; normal abdominal ultrasound 1 1 Johan den Dunnen
00307078 Pat3 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - NDD birth height 50 cm (0 SD), weight 3,672 g (+0.5 SD), OFC 34.5 cm (+0.66 SD); height 105 cm (-2.23 SD), weight 17.4 kg (-1.26 SD), OFC 48.5 cm (-2.39 SD); developmental delay; intellectual disability; speech dealy; aggressive, destructive, spitting, head banging; learning disorder; hypotonia; no epilepsy; no cardiac defect; broad thorax, pes planus; high forehead, medial thin and flaring of eyebrows, ptosis, slightly wide nasal bridge when younger, round nasal tip (upturned), posteriorly rotated ears, small teeth, fusion of two teeth, webbed/short neck; dry skin, mild eczema; no cryptorchidism; wet lung syndrome; recurrent infections ears; no lymphatic involvement; bleeding, easy bruising; no hearing problems; 1m-mild widening frontal peripheral liquor spaces; normal abdominal ultrasound 1 1 Johan den Dunnen
00307079 Pat4 PubMed: Motta 2020, Journal: Motta 2020 - F no Netherlands white - - - - NDD birth weight 2,610 g (-0.6 SD); 16y-height 163 cm (-1.27 SD), 16y-weight 53.5 kg (-0.9 SD), 9y5m-OFC 54 cm (+0.47 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; no hypotonia; no epilepsy; mitral valve billowing; broad thorax; broad forehead, full eyebrows, hypertelorism, ptosis, short and almond-shaped palpebral fissures, posteriorly rotated ears, full lips, hypertrichosis, hoarse voice, low posterior hairline; hypertrichosis; no cryptorchidism; no GER; recurrent infections ears; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems 1 1 Johan den Dunnen
00307080 Pat5 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - NDD birth height 50.8 cm (+0.48 SD), weight 3,657 g (+0.62 SD); height 89 cm (-2.21 SD), weight 12.8 kg (-1.13 SD), OFC 48.5 cm (-1.34 SD); developmental delay; intellectual disability; speech dealy, apraxia; very active, destructive, affectionate, autistic spectrum disorder; learning disorder; no hypotonia; 4m-epilepsy, infantile spasms, controlled with vigabatrin; atrial septal defect; tapered fingers, with broad bast at MP joints tapering to the distal phalanges, scapular winging; hypertelorism, ptosis, wide mouth, full lips, small lower incisors, widely spaced teeth, webbed/short neck; dry skin; no cryptorchidism; history of aspiration; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; 4m-normal MRI/CT; duplicated collecting system right kidney 1 1 Johan den Dunnen
00307081 Pat6 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - NDD birth height 50.2 cm (+0.17 SD), weight 3,062 g (-0.6 SD); 14y10m-height 122 cm (-5.92 SD), weight 16.1 kg (-7.77 SD), OFC 44 cm (-7.4 SD); developmental delay; intellectual disability; speech dealy; occasionally aggressive; learning disorder; hypotonia, axial hypotone with increased distal tone; no epilepsy; no cardiac defect; dextroconvex thoracolumbar scoliosis, dislocation/subluxati on of the left femoral head, clinodactyly, overlapping toes, prominent heels, bilateral clubfoot, limited elbow extension; microcephaly, plagiocephaly, highly arched eyebrow, long eyelashes, downslanted palpebral fissures, severe ptosis (unsuccessfully treated), malar hypoplasia, low-set posteriorly rotated ears, carp-shaped mouth, long philtrum, crowded teeth, mandibular micrognathia, coarse facies, generalized hirsutism, low posterior hairline; freckling (forehead), several 5-10 mm, hyperpigmented macules (feet, dorsal), thin nails, hypertrichosis; cryptorchidism; GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; suspicious for bowel malrotation, inflammatory bowel disease (Crohn's disease), marked atrophy left kidney 1 1 Johan den Dunnen
00307082 Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - NDD birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech dealy; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT 1 1 Johan den Dunnen
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