All individuals with variants in gene SCAF4

16 entries on 1 page. Showing entries 1 - 16.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00303296 Pat1 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD height 101 cm (SD 0.66), weight 17.2kg (SD 1.04), OFC 49.2 cm (SD −0.38); mild-moderate mild developmental delay/intellectual disability (SON-IQ 1x67, 1x50); 14m-walk; 12m-first words, 3y3m-speech 30 words; regression stagnation with seizures; 27m-30m-seizures 4x; MRI subcortical periventricular hypomyelination; muscular hypotonia; autistic features; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies 1 1 Johan den Dunnen
00303297 Pat2 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 84.5 cm (SD −0.28), weight 12.5kg (SD +0.10), OFC 47.5 cm (SD −0.8); mild developmental delay/intellectual disability; 17m-walk; 18m-first words; no regression; no seizures; muscular hypotonia; murmur,ultrasound normal; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies 1 1 Johan den Dunnen
00303298 Pat3 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism 1 1 Johan den Dunnen
00303299 Pat4 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 165.5 cm (SD −1.51), weight 56.9kg (SD −1.25), OFC 59 cm (SD 1.42); severemild developmental delay/intellectual disability; 4y-5y-walk; 5y-first words, speech 10 words; 10m-intractable seizures (myoclonic/tonic); MRI possible focal cortical dysplasia, volume loss; muscular hypotonia; autism, aggression, hyperactivity; multicystic kidneys; cryptorchidism; s/p pyloroplasty, nissen fundoplication, G-tube; kyphosis, scoliosis; sleep apnea, chronic lung disease, bronchopulmonary dysplasia, Sotos syndrome 1 1 Johan den Dunnen
00303300 Pat5 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD height 157.5 cm (SD −0.41), weight 44.4kg (SD −0.61), OFC 51.8 cm (SD −1.9); mild developmental delay/intellectual disability; 14m-walk; 14m-first words, >2y-speech 2-word combinations; possible regression in speech; 12y-myoclonus seizures; MRI normal; no muscular hypotonia; autism; ventricle septum defect (self-resolved); unilateral hydronephrosis; no urogenital anomalies; no gastro-intestinal anomalies; lordosis, hallux valgus, toe syndactyly II/III; premature adrenarche 1 1 Johan den Dunnen
00303301 Pat6 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 126.5 cm (SD 1), weight 24.9kg (SD 0), OFC 52.8 cm (SD 0); mild developmental delay/intellectual disability (tIQ 91 WISC-V); 12m-walk; 16m-first words, speech delay; no regression; no seizures; autism, hyperactivity, aggression; no renal anomalies; no urogenital anomalies; no gastro-intestinal anomalies; kyphosis 1 1 Johan den Dunnen
00303302 Pat7 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 114 cm (SD −0.22 (5y)), weight 5y-26kg (SD 1.56); language delay; 18m-walk; 3y-first words; no regression; 4y-myoclonic astatic epilepsy; MRI nonspecific FLAIR hyperintensities frontal subcortical area left > right; no behavioral anomalies 1 1 Johan den Dunnen
00303303 Pat8 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - - - - NDD height 136 cm (SD −1.69), weight 38.2kg (SD −0.14), OFC 55 cm (SD 0.54); learning difficulties; 14m-15m-walk; 2y-3y-first words, 11y-speech 20 words; no regression; 18m-intractable seizures; MRI white matter changes, cerebellar atrophy; muscular hypertonia; self-injurous, aggression; bilateral ankle rotation, pectus excavatum; delayed teeth eruption 1 1 Johan den Dunnen
00303304 Pat9 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD height 125 cm (SD −1.24 (8.5y)), weight 21kg (SD 1.19), OFC 49.2 cm (SD −0.92); mild-moderate developmental delay/intellectual disability (DQ 56); 29m-walk; 3.7y-first words, speech simple sentences; 10-12m-regression; no seizures; MRI pontocerebellar hypoplasia, hypoplasia corpus callosum; muscular hypotonia; aggression; ventricle septum defect (self-resolved), persistent foramen ovale; multicystic kidneys; inguinal hernia; no gastro-intestinal anomalies; antevertion femur 1 1 Johan den Dunnen
00303305 Pat10 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 2 affected sisters M - - - - - - - NDD moderate developmental delay/intellectual disability; 4y-no speech; autism, hyperactivity 1 1 Johan den Dunnen
00303306 Pat11 Fliedner ESHG2020 C02.1, PubMed: Fliedner 2020, Journal: Fliedner 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD height 142 cm (SD −0.25), weight 62.7kg (SD 2.39), OFC 57.6 cm (SD 2.77); developmental delay/intellectual disability; 15m-walk; 3y-4y-first words; possible regression; 2y-seizures; hypoplasia corpus callosum; muscular hypotonia; disruptive behavior, autism; scoliosis, pronation feet 1 1 Johan den Dunnen
00320147 - - - F - - - - - - - ? Microcephaly (HP:0000252); Myopia (HP:0000545); Aggressive behavior (HP:0000718); Intellectual disability (HP:0001249); Seizure (HP:0001250); Short stature (HP:0004322) 1 1 IMGAG
00449555 - - - F no - white - - - - autism HP:0000718, HP:0000736, HP:0000750, HP:0001374, HP:0001520, HP:0002370, HP:0006889, HP:0011229, HP:0030043 1 1 Marketa Wayhelova
00467614 - - - M - - (not applicable) white - - - - NDD HP:0000164, HP:0000286, HP:0000343, HP:0000369, HP:0000431, HP:0000463, HP:0000486, HP:0000708, HP:0000718, HP:0001256, HP:0002553, HP:0007018, HP:0009748 1 1 Marketa Wayhelova
00472277 359333 - - M no Germany - - - - - NDD Obesity, External genital hypoplasia, Atypical behavior, Intellectual disability, borderline 1 1 Andreas Laner
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