All individuals with variants in gene SLC13A5

17 entries on 1 page. Showing entries 1 - 17.
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00059207 FamAPatII3 PubMed: Schossig 2017 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 7 month; Neurological findings: infantile hypotonia, later ataxic dystonic gait, Horner syndrome; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth smooth surface, worn secondary premolars/molars, spaced wide, small, cylindric, yellow-brown 1 2 Elisabeth Maurer
00059208 FamAPatII1 PubMed: Schossig 2017 - M - - - - - - - KTZS seizure onset: 1st day; Neurological findings: infantile hypotonia, later spasticity, ataxia, dystonic gait, strabismus ; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth small, cylindric, yellow-brown teeth, interdental spaces, smooth surface, worn secondary premolars/molars, cylindric, yellow-brown 1 1 Elisabeth Maurer
00059209 FamBPatII1 PubMed: Schossig 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no - - - - - - KTZS seizure onset: 1st day; Neurological findings: spastic diplegia, pyramidal signs of the legs, cerebellar ataxia, strabismus; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible on primary and secondary teeth; MRI brain normal; hypoplastic enamel of prim/secondary teeth, sharp-thin lower permanent incisors, worn primary molars 2 2 Elisabeth Maurer
00059210 FamBPatII2 PubMed: Schossig 2017 - F no - - - - - - KTZS seizure onset: 2 month; Neurological findings:pyramidal signs of the legs, cerebellar ataxia; Intellectual disability, severe (HP:0010864); primary molars lack enamel and have a yellow surface, opaque enamel of incisors, smooth surface 2 1 Elisabeth Maurer
00059211 FamCPatII1 PubMed: Schossig 2017 2-generation family, affected borther/sister, unaffected heterozygous carrier parents M - - - - - - - KTZS seizure onset: 1st day; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; teeth cylindrical shape, sharp and thin incisal edges with brown discoloration, smooth/hard tooth surface, cylindric, yellow-brown 2 2 Elisabeth Maurer
00059212 FamDPatII2 PubMed: Schossig 2017 2-generation family, affected sisters/brother, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide 2 3 Elisabeth Maurer
00059213 FamDPatII4 PubMed: Schossig 2017 - F - - - - - - - KTZS seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, spaced wide, cylindric, yellow-brown 2 1 Elisabeth Maurer
00059214 FamDPatII3 PubMed: Schossig 2017 - M - - - - - - - KTZS seizure onset: 1st day; Neurological findings: ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; mild-moderate speech delay (HP:0000750); teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide 2 1 Elisabeth Maurer
00059216 FamCPatII2 PubMed: Schossig 2017 - F - - - - - - - KTZS seizure onset: 1,5 month; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; delay in tooth eruption; MRI brain normal; small secondary incisors-cylindric, sharp and thin incisal edges, smooth hard surface, cylindric, yellow-brown 2 1 Elisabeth Maurer
00059217 FamEPatII2 PubMed: Schossig 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - KTZS seizure onset: 1st day, neurological findings: marked hypotonia, marked developmental delay; MRI-brain atrophy of left hemisphere, bilateral changes in globus pallidus, probably postictal; teeth opaque enamel of incisors, smooth surface, worn primary molars, cylindric shape, spaced wide 1 1 Elisabeth Maurer
00081018 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - EIEE25 Epileptic encephalopathy, early infantile, 25 (OMIM:615905) 1 1 Daniel Trujillano
00081052 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - EIEE25 Epileptic encephalopathy, early infantile, 25 (OMIM:615905) 1 1 Daniel Trujillano
00103906 28327206-PatBH5013_1/_4 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? epileptic encephalopathy 2 1 Johan den Dunnen
00103907 28327206-PatBH6102 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? epileptic encephalopathy 2 1 Johan den Dunnen
00361626 09DG00450 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; intellectual disability 1 1 Johan den Dunnen
00440345 Pat8;PED1312.1 PubMed: Thevenon 2016,PubMed: Nambot 2018 family, several affected F - France - - - - - NDD epilepsy; epileptic encephalopathy 2 1 Johan den Dunnen
00440353 Pat36;PED1236.4 PubMed: Thevenon 2016, PubMed: Nambot 2018 family, several affected M yes France - - - - - NDD epilepsy; epileptic encephalopathy 1 1 Johan den Dunnen
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