All individuals with variants in gene PPP1R21

12 entries on 1 page. Showing entries 1 - 12.
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00307927 17DG0773 PubMed: Anazi 2017 family F - - - - - - - ID see paper; ..., gevere global developmental delay; neonatal respiratory distress; dilatation of lateral ventricles; hypotonia; generalized muscle weakness; recurrent respiratory infections; abnormal facial shape; wide nasal bridge; upslanted palpebral fissures; coarse facial features; generalized hirsutism; low-set, posteriorly rotated ears; thick lower lip vermilion; high, narrow palate; hepatomegaly; myopia; rotatory nystagmus; areflexia; abnormal CNS myelination; cavum septum pellucidum; enlarged cisterna magna 1 1 Johan den Dunnen
00441942 Pat1 PubMed: Suleiman 2018 - F yes United Arab Emirates - - - - - NDD see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; rotatory nystagmus; poor feeding; respiratory distress/failure; respiratory infections; hepatomegaly; myopia; no scoliosis; no contractures; no microcephaly; no short stature; no underweight; thick eyebrows; hypertelorism; upslanted palpebral fissures; no epicanthus; broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; thick lips; high-arched palate; low-set ears; coarse facies; excessive facial hair; flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, hypoplastic corpus callosum, cavum septum pellucidum 1 1 Johan den Dunnen
00441943 Pat2 PubMed: Suleiman 2018 - M - United Arab Emirates - - - - - NDD see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; rotatory nystagmus; poor feeding; respiratory distress/failure; respiratory infections; no hepatomegaly; no myopia; no scoliosis; no contractures; no microcephaly; no short stature; no underweight; thick eyebrows; hypertelorism; no upslanted palpebral fissures; epicanthus; broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; no thick lips; high-arched palate; low-set ears; coarse facies; excessive facial hair; flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, hypoplastic corpus callosum, cavum septum pellucidum 1 1 Johan den Dunnen
00441944 Pat3 PubMed: Suleiman 2018 - F - United Arab Emirates - - - - - NDD see paper; ..., developmental delay; hypotonia; weakness; hyporelexia; no rotatory nystagmus; no poor feeding; no respiratory distress/failure; no respiratory infections; no hepatomegaly; no myopia; scoliosis; contractures; microcephaly; short stature; underweight; no thick eyebrows; no hypertelorism; no upslanted palpebral fissures; no epicanthus; no broad nasal bridge; short nose; upturned nasal tip; broad low-hanging columella; no thick lips; high-arched palate; no low-set ears; coarse facies; no excessive facial hair; no flat occiput; MRI brain cerebellar vermis hypoplasia, ventricular dilatation, prominent CSF spaces, reduced white matter volume, no hypoplastic corpus callosum, no cavum septum pellucidum 1 1 Johan den Dunnen
00441945 Fam1PatII5 PubMed: Rehman 2019 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents (1st cousins) F yes - - 1y - - - NDD see paper; ..., 1y-deceased; high forehead, high eye brows, high arch palate, tented mouth; severe global developmental delay; generalized hypotonia, weak cry, swallowing problems, absent dtrs; irregular outline to prominent bodies of both lateral ventricles with abnormal periventricular T2 hyperintensity, generous extra‐axial csf spaces with bilateral and symmetric underopercularization, foreshortening and thinning of corpus callosum; hypertrophic cardiomyopathy; difficulty breathing and choking at 1 month of age, recurrent respiratory infections, laryngomalacia; feeding difficulties, constipation, distended abdomen, failure to thrive, hepatosplenomegaly; delayed fontanel closure; optic atrophy, esotropia; strawberry hematoma of right knee 1 4 Johan den Dunnen
00441946 Fam1PatII6 PubMed: Rehman 2019 sister F yes Syria - 7d - - - NDD see paper; ..., 7d-deceased; skull asymmetry, high forehead, flat orbital ridges, hypertelorism, low set ears, high‐arched palate, small chin, small thorax; severe central hypotonia, poor suck, weak cry.; not available; mild left pulmonary stenosis, atrial septal defect secundum; 3w-NICUfor respiratory distress; feeding difficulties, constipation, distended abdomen; small thoracic cage, arched back, clenched hands, bilateral overlapping of fingers and toes; minimal vision, esotropia 1 1 Johan den Dunnen
00441947 Fam2PatII3 PubMed: Rehman 2019 2-generation family, 2 affected sibs (2F), unaffected heterozygous carrier parents (1st cousins) F yes Oman - - - - - NDD see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; slight prominence to the supratentorial ventricular system with increased T2 hyperintensity returned from the bilateral posterior centra semiovale, cavum septum pellucidum; atrial septal defect; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries 1 2 Johan den Dunnen
00441948 Fam2PatII4 PubMed: Rehman 2019 sister F yes Oman - - - - - NDD see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; irregular outline to the bodies of both lateral ventricles in addition to the increased T2 hyperintensity returned from the periventricular white matter, thinning and foreshortening of the body of the corpus callosum, cavum septum pellucidum; no cardiac anomalies; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries, myoclonic epilepsy 1 1 Johan den Dunnen
00441949 Fam3PatV4 PubMed: Rehman 2019 5-generation family, 2 affected (2F), unaffected heterozygous carrier parents F yes Iran - - - - - NDD see paper; ..., slightly coarse features, low set ears, increased facial hair; severe global developmental delay; hypotonia, no sitting or walking; prominence to the bodies of the lateral ventricles with generous extra‐axial csf spaces with bilateral and symmetric underopercularization, thinning and foreshortening of the corpus callosum; no cardiac anomalies; respiratory distress, recurrent respiratory infections; hepatosplenomegaly; no skeletal findings; optic atrophy, reduced visus, strabismus; hypothyroidism 1 1 Johan den Dunnen
00441950 Fam4PatIV1 PubMed: Rehman 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - NDD see paper; ..., plagiocephaly, slightly coarse features; severe global developmental delay; hypotonia, not sitting or walking; reduction in the volume of deep white matter with abnormal signal; reduction in brainstem and vermian volume; dysmorphic corpus callosum and brainstem; no cardiac anomalies; admitted to picu for respiratory support following episode of decreased consciousness and hypothermia; feeding difficulties; no skeletal findings; no ophthalmologic findings; undescended testes 1 1 Johan den Dunnen
00441951 patient PubMed: Loddo 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - NDD see paper; ..., intellectual disability, short stature, congenital ataxia with cerebellar vermis hypoplasia, generalized hypertrichosis, ulcerative keratitis, muscle weakness, progressive coarse appearance, macroglossia with fissured tongue, deep palmar and plantar creases 1 1 Johan den Dunnen
00441952 patient Journal: Ghazi-Nader 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Iran - - - - - NDD see paper; ..., severe developmental delays, intellectual disability, facial deformities, muscle weakness, difficulty breathing and feeding, vision impairment. 1 1 Johan den Dunnen
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