All individuals with variants in gene SNAPC4

11 entries on 1 page. Showing entries 1 - 11.
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00465221 - - - F no Brazil - - - - - SPG - 2 1 Cynthia Silveira
00465229 Fam1PatII2 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents F - United States Europe - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 2,490 g (4th centile), length 45.7 cm (3rd centile); abnormal body weight (95th centile); short stature (12th centile); 9m-microcephaly (OFC -2.17 SD, 1st centile); developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain mild cerebral atrophy 2 1 Johan den Dunnen
00465230 Fam2PatII1 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents F - - - - - - - NDD birth emergency Caesarean section, weight 3,345 g (60th centile), length 49.5 cm (58th centile); abnormal body weight (<1st centile); short stature (<1st centile); no microcephaly; developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, non-verbal; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum 2 1 Johan den Dunnen
00465231 Fam3PatII1 PubMed: Frost 2023 2-generation family, 2 affected brothers, unaffed heterozygous carrier parents M - - - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 3,288 g (45th centile); normal weight; short stature (2nd centile); 13y-microcephaly (OFC -2.12 SD, 2nd centile); developmental/motor regression (onset 30m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes 2 2 Johan den Dunnen
00465232 Fam3PatII2 PubMed: Frost 2023 brother M - - - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 3,773 g (80th centile), length 53.3 cm (96th centile); normal weight; short stature (<1st centile); 3y-microcephaly (OFC -2.36 SD, 1st centile); developmental/motor regression (onset 36m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal 2 1 Johan den Dunnen
00465233 Fam4PatII1 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents M - - - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 2,138 g (1st centile), length 45.5 cm (1st centile); abnormal body weight (<1st centile); short stature (<1st centile); 8.7y-microcephaly (OFC -3.4 SD, <1st centile); spasticity; no spastic quadriparesis; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal 2 1 Johan den Dunnen
00465234 Fam5PatII1 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents F - - - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 3,190 g (46th centile), length 51 cm (84th centile); abnormal body weight (1st centile); short stature (<1st centile); 7y-microcephaly (OFC -4.12 SD, <1st centile); developmental/motor regression (onset 6m); spasticity; no spastic quadriparesis; dystonia; drooling, dysarthria; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum, cerebrum 2 1 Johan den Dunnen
00465235 Fam6PatII1 PubMed: Frost 2023 2-generation family, 2 affected sisters, unaffed heterozygous carrier parents F yes Morocco - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 2,980 g (11th centile), length 48 cm (10th centile); abnormal body weight (<1st centile); short stature (<1st centile); 12.5y-microcephaly (OFC -5 SD, <1st centile); developmental/motor regression (onset 16m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy, mild cerebral atrophy 1 2 Johan den Dunnen
00465236 Fam6PatII2 PubMed: Frost 2023 sister F yes Morocco - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 2,790 g (7th centile), length 48 cm (16th centile); abnormal body weight (<1st centile); short stature (<1st centile); 11y-microcephaly (OFC -7 SD, <1st centile); developmental/motor regression (onset 18m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy 1 1 Johan den Dunnen
00465237 Fam7PatII1 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents M yes Morocco - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 2,640 g (1st centile), length 47 cm (2nd centile); normal weight; short stature (<1st centile); 6.5y-microcephaly (OFC -5.5 SD, <1st centile); spasticity; no spastic quadriparesis; no dystonia; no oromotor dysfunction; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy 1 1 Johan den Dunnen
00465238 Fam8PatII1 PubMed: Frost 2023 2-generation family, 1 affected, unaffed heterozygous carrier parents M - - - - - - - NDD see paper; ..., birth spontaneous vaginal delivery, weight 3,400 g (54th centile); abnormal body weight (75th-90th centile); short stature (10th centile); -; developmental/motor regression (onset 24-36m); spasticity; no spastic quadriparesis; dysarthria; gait abnormalities; normal deep tendon reflexes 2 1 Johan den Dunnen
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