All individuals with variants in gene GTPBP1

4 entries on 1 page. Showing entries 1 - 4.
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00443459 Fam1Pat1 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Iran - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; normal plantar reflexes; no autistic behaviour; 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; normal vision; strabismus; scoliosis or kyphoscoliosis; pectus carinatum; limited extension elbow/knees; no tapered fingers; no pes planus; pes cavus; dysphagia 1 1 Vincenzo Salpietro
00443460 Fam2Pat2 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected brothers, unaffected heterozygous parents M yes Pakistan - - - - - ? delayed motor milestones; profpound neurodevelopmental impairment; ?; epilepsy; axial hypotonia; increased deep tendon reflexes; autistic behaviour; MRI brain cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, bitemporal narrowing, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes; abnormal vision; tapered fingers; pes cavus; 1 2 Vincenzo Salpietro
00443461 Fam3Pat4 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Egypt - - - - - ? delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no 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, no coarse face, no high forehead, no high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, no thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; strabismus; scoliosis or kyphoscoliosis; pectus carinatum; normal extension elbow/knees; tapered fingers; pes planus; dysphagia 1 1 Vincenzo Salpietro
00448112 Fam2Pat3 PubMed: Salpietro 2024, Journal: Salpietro 2024 brother M yes Pakistan - - - - - NDD MRI brain cerebellar atrophy, hypoplasia/agenesis corpus callosum; , coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, full cheeks, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin; 1 1 Johan den Dunnen
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