All individuals with variants in gene RPS6KC1

14 entries on 1 page. Showing entries 1 - 14.
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00467763 Fam1PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - - - - NDD see paper; ..., mild development delay; 16m-walk; no regression; neonatal hypotonia; no motor signs; no epilepsy; no dysmorphism; mild intellectual disability; repetitive behavior, occasionally aggressive; MRI brain 10y2m WM volume loss, thin corpus callosum, enlarged cisterna magna 1 1 Johan den Dunnen
00467764 Fam2PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 5 affected (4F, M) and three stillborns, unaffected heterozygous carrier parents M - Finland - - - - - NDD see paper; ..., mild development delay; 18m-walk; no regression; no neonatal hypotonia; spastic paraplegia; epilepsy; dysmorphism (long face, long philtrum, thin upper lip, prominent forehead, hypotelorism, single median maxillary incisor); moderate intellectual disability; autistic traits, depressive disorder; strabismus (operated), scoliosis 1 5 Johan den Dunnen
00467765 Fam2PatII5 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - NDD see paper; ..., mild development delay; 16m-walk; no regression; neonatal hypotonia; spastic paraplegia; no epilepsy; dysmorphism (long face, long philtrum, thin upper lip, hypotelorism, prominent maxillary incisor, convergent strabismus, anteverted nares, low-set, posteriorly rotated ears); moderate intellectual disability; normal behavior; 40y-cognitive decline 1 1 Johan den Dunnen
00467766 Fam2PatII6 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - NDD see paper; ..., mild development delay; 18m-walk; no regression; neonatal hypotonia; no motor signs; no epilepsy; dysmorphism (long face, long philtrum, thin upper lip, prominent forehead, retrognathia, hypotelorism, prominent maxillary incisor, low-set, posteriorly rotated ears); moderate intellectual disability; anxiety disorder, attention-defi- cient hyperactive disorder; normal CT scan 1 1 Johan den Dunnen
00467767 Fam2PatII11 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F - Finland - - - - - NDD see paper; ..., mild development delay; 14m-walk; no regression; neonatal hypotonia; no motor signs; epilepsy; dysmorphism (long face, hypotelorism, prominent maxillary incisor, convergent strabismus, anteverted nares, low-set, posteriorly rotated ears); moderate intellectual disability; normal behavior; strabismus; normal CT scan 1 1 Johan den Dunnen
00467768 Fam3PatII6 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 3 affected sisters (+ three miscarriages), unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Iran - - - - NDD see paper; ..., no development delay; 13m-walk; no regression; no neonatal hypotonia; hyperreflexia; epilepsy; dysmorphism (prominent nose, deep-set eyes); no intellectual disability; anxiety disorder; tremor, mitral valve prolapse; MRI brain 6y-mild WM volume loss, thin corpus callosum, brainstem hypoplasia 1 3 Johan den Dunnen
00467769 Fam4PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - NDD see paper; ..., mild development delay; 18m-walk; no regression; neonatal hypotonia; spastic tetraplegia; isolated seizure; dysmorphism (long face, prominent forehead, retrognathia, sthenic body habitus, scoliosis, lumbar hyperlordosis, pes cavus); mild intellectual disability; autistic traits, winging movements; peripheral axonal neuropathy, scoliosis; MRI brain 15y-posterior WM volume loss with colpocephaly, corpus callosum hypoplasia of body and splenium, cerebellar vermis hypoplasia 2 1 Johan den Dunnen
00467770 Fam5PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected fetus (several failed in vitro fertilizations), unaffected heterozygous carrier parents F no Estonia - <0d - - - NDD see paper; ..., 19wg-termination pregnancy; dysmorphism (extensive fetal hydrops, short neck, broad neck, downslanted palpebral fissures, low-set ears; prominent clitoris); extensive fetal hydrops 2 1 Johan den Dunnen
00467771 Fam6PatII1 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - NDD see paper; ..., moderate development delay; 12m-walk; no regression; no neonatal hypotonia; mild distal weakness, hyperreflexia; isolated seizure; dysmorphism (prominent forehead, downslanted palpebral fissures, bilateral ptosis, high-arched palate, retrognathia, low-set, posteriorly rotated ears); moderate intellectual disability; shyness, asociality; tremor, ataxic gait, ocular apraxia; MRI brain 40y-WM volume loss, thin corpus callosum, mild cerebellar vermis atrophy 1 1 Johan den Dunnen
00467772 Fam7PatII2 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M no - Asia - - - - NDD see paper; ..., moderate development delay; independent walking; 7y-regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; occasional seizures; dysmorphism; moderate intellectual disability; aggressive behavior; tremor, ataxic gait, dystonia, myoclonus 1 3 Johan den Dunnen
00467773 Fam7PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F no - Asia - - - - NDD see paper; ..., moderate development delay; independent walking; 8y-regression; no neonatal hypotonia; muscle weakness, hyperreflexia; occasional seizures; dysmorphism; moderate intellectual disability; aggressive behavior; tremor, slight gait abnormality 1 1 Johan den Dunnen
00467774 Fam8PatII2 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - - - - - NDD see paper; ..., moderate development delay; independent walking; no regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; no epilepsy; no dysmorphism; moderate intellectual disability; normal behavior; scoliosis; convergent strabismus 1 2 Johan den Dunnen
00467775 Fam8PatII3 PubMed: Planas-Serra 2025, Journal: Planas-Serra 2025 sister F yes Iran - - - - - NDD see paper; ..., moderate development delay; independent walking; no regression; no neonatal hypotonia; spastic paraplegia, muscle weakness, hyperreflexia; no epilepsy; no dysmorphism; moderate intellectual disability; normal behavior; scoliosis; convergent strabismus 1 1 Johan den Dunnen
00467797 Fam025PatBAB6797 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD developmental delay, white matter volume loss, thin corpus callosum, periventricular leukomalacia, delayed myelination, axial hypotonia 2 1 Johan den Dunnen
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