All individuals with variants in gene GABBR1

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00417508 Ind1 PubMed: Cediel 2022, Journal: Cediel 2022 2 generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD weight P25-P50, height P50-P75, OFC P25; motor delay; speech delay/abnormalities; hypotonia; repetitive/stereotypical movements; no epilepsy; no autism spectrum disorder; no attention-deficit/hyperactivity disorder; no encopresis; no sleeping difficulties; no ocular anomalies, note sticky and intense gaze; no musculo-skeletal anomalies; no dermatological anomalies 1 1 Johan den Dunnen
00417509 Ind2 PubMed: Cediel 2022, Journal: Cediel 2022 2 generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD weight P25-P50, height P10-P25, OFC P25; motor delay; speech delay/abnormalities; hypotonia; no repetitive/stereotypical movements; epilepsy; intellectual disability; learning difficulties; no autism spectrum disorder; no attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; optic nerve hypoplasia, cortical visual disorders, intermittent nystagmus, hypermetropia; scoliosis; no dermatological anomalies 1 1 Johan den Dunnen
00417510 Ind3 PubMed: Cediel 2022, Journal: Cediel 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - NDD weight P85, height P79, OFC P95; motor delay; speech delay/abnormalities; no hypotonia; repetitive/stereotypical movements, resolved with age; no epilepsy; intellectual disability; learning difficulties; no autism spectrum disorder; attention-deficit/hyperactivity disorder; encopresis; sleeping difficulties, resolved with age; no ocular anomalies; no musculo-skeletal anomalies; no dermatological anomalies 1 1 Johan den Dunnen
00417511 Ind4 PubMed: Cediel 2022, Journal: Cediel 2022 2 generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD weight P50-P75, height P10-P25, OFC P97; no motor delay; speech delay/abnormalities; no hypotonia; no repetitive/stereotypical movements; no epilepsy; no intellectual disability; no learning difficulties; autism spectrum disorder; attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; no ocular anomalies; congenital bilateral anteversion of femur; bilateral tight heel chord; knee pain; acne vulgaris, xerosis cutis, multiple melanocytic nevi, nail dystrophy 1 1 Johan den Dunnen
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