All individuals with variants in gene RFC4

11 entries on 1 page. Showing entries 1 - 11.
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00453573 Pat1 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - - 49y - - - ? see paper; ..., onset mid-30s; no decreased body weight2.08 SD); no short stature (-1.68 SD); no microcephaly; no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; diaphragm weakness; incoordination; gait disturbance; poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; nystagmus; saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; cerebral atrophy 2 1 Johan den Dunnen
00453574 Pat2 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 36y - - - ? see paper; ..., onset childhood; decreased body weight (-8.05 SD); short stature (-2.34 SD); no microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; cerebral atrophy 2 1 Johan den Dunnen
00453575 Pat3 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Guatemala - - - - - ? see paper; ..., onset infancy; decreased body weight (-2.20 SD); no short stature (-0.38 SD); no microcephaly (-0.71 SD); hearing impairment; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; not achieved independent ambulation; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy 1 1 Johan den Dunnen
00453576 Pat4 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier father M - India - 00y07m - - - ? see paper; ..., onset neonatal; decreased body weight (-5.80 SD); no short stature (-1.91 SD); microcephaly (-2.51 SD); bilateral sensorineural hearing impairment; no dyspnea; muscle weakness; myopathy; hypotonia; diaphragm weakness; incoordination; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy 2 1 Johan den Dunnen
00453577 Pat5 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - - Europe 08y06m - - - ? see paper; ..., onset infancy; decreased body weight (-3.23 SD); short stature (-3.10 SD); microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; hypotonia; no diaphragm weakness; incoordination; not achieved independent ambulation; delayed gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; intention tremor; cerebellar atrophy; no cerebral atrophy 2 1 Johan den Dunnen
00453578 Pat6 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected parents M - Japan - - - - - ? see paper; ..., onset childhood; decreased body weight (-2.87 SD); no short stature (-1.37 SD); no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; no poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; no cerebral atrophy 2 1 Johan den Dunnen
00453579 Pat7 PubMed: Morimoto 2024 2-generation family, 1 affected, unaffected parents F - Japan - - - - - ? see paper; ..., onset infancy; decreased body weight (-6.22 SD); short stature (-2.64 SD); no microcephaly (-0.69 SD); no hearing impairmen; no dyspnea; no restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; no diaphragm weakness; incoordination; not achieved independent ambulation; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy 1 1 Johan den Dunnen
00453580 FamPat8 PubMed: Morimoto 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - - - 7m - - - ? see paper; ..., onset neonatal; decreased body weight (-4.51 SD); short stature (-2.39 SD); microcephaly (-3.84 SD); bilateral sensorineural hearing impairment; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; poor coordination when fatigued; poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy 2 2 Johan den Dunnen
00453581 FamPat9 PubMed: Morimoto 2024 brother M - - - 8m - - - ? see paper; ..., onset neonatal; decreased body weight (-2.83 SD); short stature (-2.39 SD); microcephaly (-2.37 SD); bilateral sensorineural hearing impairment; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; hypotonia; diaphragm weakness; no incoordination; no poor gross motor coordination; delayed gross motor development; no cerebellar ataxia; no nystagmus; no saccadic smooth pursuit; no intention tremor; no cerebellar atrophy; no cerebral atrophy 2 1 Johan den Dunnen
00459423 - Lauerova, submitted 2024 - M - Ukraine white - - - - MYOP rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness 2 1 Barbora Lauerova
00459424 - Lauerova, submitted 2024 - M - Ukraine - - - - - MYOP rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness 2 1 Barbora Lauerova
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