All individuals with variants in gene GTPBP2

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00121857 index family 1 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - F yes Saudi Arabia - - - - - ID see paper; ... 1 1 Christian Beetz
00121858 index family 2 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - M yes Kuwait - - - - - ID see paper; ... 1 1 Christian Beetz
00121859 index family 3 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - M yes Saudi Arabia - - - - - ID see paper; ... 1 1 Christian Beetz
00208600 Fam110 - - - - - - - - - - cancer, colon - 1 2 Xiang Jiao
00443462 Fam4Pat5 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Pakistan - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; ?; tremor hands/jaws; abnormal hand movements; MRI brain hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; abnormal vision; ?; tapered fingers; dysphagia 1 2 Vincenzo Salpietro
00443464 Fam5Pat7 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Pakistan - - - - - ? severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; abnormal vision; scoliosis or kyphoscoliosis; limited extension elbow/knees; tapered fingers; dysphagia 1 1 Vincenzo Salpietro
00443465 DS-100-3 PubMed: Jaberi 2016 5-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents/relatives F yes Iran - - - - - NDD ee paper; ..., intellectual disability (IQ43-50); 1y-sit, 2y-walk, 3y-speech; no scoliosis, no kyphoscoliosis; no pectus carinatum; no seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; tremor hands, tremor jaws; abnormal hand posturing; normal muscle tone; normal muscle strength; absence of ankle jerks; abnormal plantar reflexes; no myopia; no early onset cataract; anomalies retina; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests 1 3 Johan den Dunnen
00443466 DS-100-4 PubMed: Jaberi 2016 brother M yes Iran - - - - - NDD see paper; ..., intellectual disability (IQ47-50); 1y-sit, 2y-walk, 3y-speech; scoliosis or kyphoscoliosis; no pectus carinatum; no seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; no tremor hands, no tremor jaws; normal hand posturing; reduced muscle tone; reduced muscle strength; reduced deep tendon reflexes; abnormal plantar reflexes; no myopia; no early onset cataract; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; abnormal liver and/or kidney function tests 1 1 Johan den Dunnen
00443467 DS-100-5 PubMed: Jaberi 2016 brother M yes Iran - - - - - NDD see paper; ..., intellectual disability (IQ40-50); 1y-sit, 2y-walk, 3y-speech; scoliosis or kyphoscoliosis; pectus carinatum; generalized tonic clonic seizures; wide-based gait, wide-based stance; abnormal finger to nose test; thin sparse brittle hair; normal sensory action potentials; normal compound motor action potentials; neurogenic pattern on needle examination; MRI brain cerebellar vermain atrophy; susceptibility-weighted imaging hypointensity in globus pallidus and substantia nigra; no tremor hands, no tremor jaws; normal hand posturing; reduced muscle tone; reduced muscle strength; absence of ankle jerks; abnormal plantar reflexes; myopia; early onset cataract; normal muscle enzyme levels; normal thyroid hormone levels; normal electrolyte levels; normal liver and/or kidney function tests 1 1 Johan den Dunnen
00443468 Fam6Pat8 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - ? delayed motor milestones; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; MRI brain hypomyelination, cortical gyral semplification; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, no yellowish skin; abnormal vision; scoliosis or kyphoscoliosis; pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus; 1 1 Vincenzo Salpietro
00443469 Fam7Pat9 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Italy - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; myoclonus; abnormal hand movements; abnormal plantar reflexes; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, keratosis pilaris; abnormal vision; strabismus; scoliosis or kyphoscoliosis; limited extension elbow/knees; tapered fingers; pes planus; dysphagia 1 1 Vincenzo Salpietro
00443470 Fam8Pat10 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; abnormal hand movements; autistic behaviour; MRI brain no hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, sparse eyebrows, sparse eyelashes; strabismus; excavatum; no dysphagia 1 1 Vincenzo Salpietro
00443471 Fam1Pat1 PubMed: Carter 2019 2-generation family, 1 affected, unaffected parents F no Canada French-Canadian - - - - NDD see paper; ... 2 1 Johan den Dunnen
00443472 Fam2Pat2/3 PubMed: Carter 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Somalia - - - - - NDD see paper; ... 1 2 Johan den Dunnen
00443474 Fam9Pat11 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; axial hypotonia; increased deep tendon reflexes; no myoclonus; abnormal hand movements; normal plantar reflexes; MRI brain cerebellar atrophy; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; normal vision; no strabismus; scoliosis or kyphoscoliosis; no dysphagia 1 1 Vincenzo Salpietro
00443475 Fam10Pat12 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Libya - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; tapered fingers; pes planus; dysphagia 1 2 Vincenzo Salpietro
00443476 Fam11Pat14 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected (brother/sister), unaffected heterozygous parents M yes Iran - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; no epilepsy; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, no full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; limited extension elbow/knees; no tapered fingers; no pes planus; pes cavus; dysphagia 1 2 Vincenzo Salpietro
00443477 Fam12Pat16 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; pes planus; dysphagia 1 1 Vincenzo Salpietro
00443478 Fam14Pat18 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; dysphagia 1 1 Vincenzo Salpietro
00443479 Fam15Pat19 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus; 1 1 Vincenzo Salpietro
00443480 Fam16Pat20 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Greece - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; tremor hands/jaws; abnormal hand movements; MRI brain hypomyelination; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; abnormal vision; strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus; 1 1 Vincenzo Salpietro
00448115 Fam4Pat6 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Pakistan - - - - - NDD delayed motor milestones; profpound neurodevelopmental impairment; epilepsy; MRI brain cerebellar atrophy; microcephaly, thick protruding lips, thin sparse brittle hair, sparse eyebrows; scoliosis or kyphoscoliosis; tapered fingers; dysphagia 1 1 Johan den Dunnen
00448122 Fam10Pat13 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Libya - - - - - NDD delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; normal deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; no strabismus; scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; tapered fingers; pes planus; dysphagia 1 1 Johan den Dunnen
00448124 Fam11Pat15 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Iran - - - - - NDD no tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; no myoclonus; no tremor hands/jaws; normal hand movements; normal plantar reflexes; microcephaly, no coarse face, no high forehead, high temporal/frontal hairline, bitemporal narrowing, no palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, no yellowish skin, no keratosis pilaris; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; no pes planus; no pes cavus; no dysphagia 1 1 Johan den Dunnen
00448126 Fam13Pat17 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - NDD delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; abnormal vision; no strabismus; no scoliosis or kyphoscoliosis; no pectus carinatum; normal extension elbow/knees; no tapered fingers; pes planus; dysphagia 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.