All individuals with variants in gene GABBR2

7 entries on 1 page. Showing entries 1 - 7.
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00294687 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00294688 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 48 Mohammed Faruq
00380166 167405 - - M no Germany - - - - - NDD Microcephaly, Abnormal location of ears, Posteriorly rotated ears, Strabismus, Abnormal conjugate eye movement, Stereotypy, Delayed speech and language development, Prominent superficial veins, Hypermelanotic macule, Prominent scalp veins, Ataxia, Hypotonia, Global developmental delay, Motor delay, Absent speech, Abnormal scalp morphology, Truncal ataxia, Neurological speech impairment, Apraxia, Language impairment, Temporal hypotrichosis, Flat occiput, Aplasia/Hypoplasia of the cerebrum, Infantile muscular hypotonia, Delayed fine motor development, Abnormality of the helix, Abnormal shape of the occiput, Darwin tubercle of helix, Congenital abnormal hair pattern, Mongolian blue spot, Stereotypical hand wringing, Neurodevelopmental delay, Hand apraxia, Decreased head circumference, Abnormality of head blood vessel 1 1 Andreas Laner
00415399 Fam2Pat7-I PubMed: Zanoni 2021 2-generation family, affected mother/daughter/son F no - white - - - - NDD 40w-birth spontaneous vaginal, length 48cm (-1.68), weight 2940g (-1.26); no pre-/perinatal issues; height 139cm (-1.06), weight 34.6Kg (-0.49), OFC 48,9cm (-3.72), BMI 17.9 (0.21); mild intellectual disability; 2m-social smile; 6m-roll-over; 8m-sit; 18m-walk; <5y-toilet trained; 18m-first words; special education classes, occupational therapy, speech therapy; no autistic features; ADHD, aggressive behaviour; no sleep disturbances; no seizures; 2y6m-MRI brain/spinal normal; mild hypotonia in early infancy; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities, normal US; no gastrointestinal abnormalities; no genitourinary abnormalities, normal renal US; no endocrinological abnormalities; normal metabolic workup; cutaneous incomplete syndactyly toes 2-3 bilaterally (as in father); small epicanthal folds bilaterally, posteriorly rotated simplified ears with hypoplasia of lower 2/3 of helices, short nose, thin upper lip, inverted nipples; Multiple teeth capped due to severe decay 1 3 Johan den Dunnen
00419462 8137 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00435325 256529 - - F no Germany - - - - - DEE59 Global developmental delay, Dysmetria, Dyskinesia, Ataxia 1 1 Andreas Laner
00438640 HSJ0048 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) M - Canada French-Canadian - - - pharmaco-resistant seizures DEE see paper; ..., severe global developmental delay, severe intellectual disability; 11m-seizures; EEG modified hypsarrhythmia; MRI brain increased sub-arachnoid spaces; axial and limb hypotonia, hyporeflexia, scoliosis, hypersalivation 1 1 Johan den Dunnen
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