All individuals with variants in gene ADARB1

8 entries on 1 page. Showing entries 1 - 8.
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00296258 Pat1 PubMed: Tan 2020, Journal: Tan 2020 - M no Australia white - - - - ? no prenatal structural anomalies; concern about CMV infection in first trimester, no CMV detected by PCR of amniotic fluid, neonatal blood and urine, neonatal jaundice treated with 3 days of phototherapy; birth 40w gestation, length 51 cm (+0.5 SD), weight 3430 g (+0.17 SD), head circumference 30.5 cm (−2.2 SD); length 100 cm (−1.3 SD), weight 15.5 kg (−0.8 SD), head circumference 46 cm (−3.6 SD); motor delay; stand with assistance; first words-12m, 2 words; severe intellectual disability; epilepsy, global developmental delay, intermittent tremor in leg; MRI 6m-thin corpus callosum, incomplete myelination; CT 16m-no calcification, no sutural synostosis; EEG slow and less well-modulated background for age, no epileptiform activity; two generalized tonic-clonic seizures; no behavioral problems; frequent waking during night, early morning waking; round face with metopic ridging, brachycephaly, upslanting palpebral fissures, normal corneal reflexes, thin upper lip; normal hearing; exotropia, normal vision; no abnormality heart; laryngomalacia; PEG feeds; no abnormality urogenital system; high anterior hairline, sparse scalp hair; no chillblains; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system 2 1 Johan den Dunnen
00296259 Pat2 PubMed: Tan 2020, Journal: Tan 2020 - M no United States Hispanic 24m - - - ? deceased; no prenatal structural anomalies; c-section due to pre-eclampsia, no other complications with pregnancy or delivery, 7w in NICU, not intubated, had anemia requiring blood transfusion and had apnea requiring caffeine; birth 31w gestation, length unknown, weight 1701 g; length 81 cm (−2 SD), weight 10.95 kg (−0.9 SD), head circumference 43.5 cm (−4.0 SD); motor delay; unable to roll over or support head; nonverbal; profound intellectual disability; epilepsy, global developmental delay, diffuse hypotonia, symmetric antigravity movements of limbs; MRI 22m-microcephaly, diffuse supratentorial volume loss, white matter gliosis, delayed myelination; EEG multifocal epileptiform discharges; migrating focal seizures; no behavioral problems; no sleep disturbance; non-dysmorphic with plagiocephaly; normal hearing; cortical blindness; no abnormality heart; grade 1 subglottic stenosis; PEG feeds; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system 1 1 Johan den Dunnen
00296260 Pat3 PubMed: Tan 2020, Journal: Tan 2020 - M yes Israel - - - - - ? prenatal elevated nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); during pregnancy elevated Nuchal translucency (3.8 mm) microcephaly and polyhydramnios (AFI-27 CM); birth 40w gestation, length unknown, weight 3500 g, head circumference 36.5 cm (+0.38 SD); length 76 cm (−3.6 SD), weight unknown, head circumference 43 cm (−4.4 SD); motor delay; nonverbal; severe intellectual disability; epilepsy, global developmental delay, hypertonia with significant spasticity; MRI 23m-thin corpus callosum; EEG focal epileptiform discharges in the left temporal and occipital regions; intractable generalized seizures; no behavioral problems; no sleep disturbance; oval face with plagiocephaly and high arched palate; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; left cryptorchidism; single café au lait spot on back; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system 1 1 Johan den Dunnen
00296261 Pat4;Fam10Pat12 PubMed: Tan 2020, Journal: Tan 2020, PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected parents M yes Iran Azari - - - - ? no prenatal structural anomalies; no complications during pregnancy or delivery; birth 38w gestation, length 50 cm (−4.3 SD), weight 3600 g (+0.51 SD), head circumference in normal range; length 114 cm (−4.3 SD), weight 20 kg (−4.1 SD), head circumference 49 cm (−3.3 SD); motor delay; nonverbal; profound intellectual disability; epilepsy, global developmental delay, axial hypotonia with appendicular hypertonia and distal contractures, muscle atrophy, repetitive movements of right hand and neck; MRI 3y-brain atrophy in temporal lobes; EEG focal and generalized epileptiform discharges; 7y-intractable generalized seizures with increased frequency from once a month to once every 15d; no behavioral problems; no sleep disturbance; non-dysmorphic face; normal hearing; cortical blindness; no abnormality heart; no abnormality respiratory system; feeding difficulties; no abnormality urogenital system; no abnormality skin/hair/nails; no abnormality musculoskeletal system; no abnormality endocrine system; no abnormality immunological system 1 1 Barbara Vona
00334755 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 8 LOVD
00334756 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 9 LOVD
00380411 Fam1 PubMed: Maroofian 2021 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Iraq - - - - - NDD see paper; ..., global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia, progressive appendicular spasticity 1 3 Johan den Dunnen
00380412 Fam2 PubMed: Maroofian 2021 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - NDD see paper; ..., global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia, progressive appendicular spasticity 1 2 Johan den Dunnen
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