All individuals with variants in gene CACNA1B

9 entries on 1 page. Showing entries 1 - 9.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00029649 - PubMed: Groen 2015 4-generation famil, 5 affecteds (4F, 1M) - no Netherlands - - - - - DYT11 see paper; cervical/axial dystonia at rest, writer’s cramp, action-induced foot dystonia with walking, myoclonic jerks legs/arms, increasing with action, positive effect of alcohol on jerks, complaints of hyperventilation or panic attacks; high-frequency continuous myoclonus legs while standing, causing unsteadiness; 3/5 cases cardiac arrhythmias, attacks of painful cramps upper/lower limbs 1 5 Johan den Dunnen
00052115 - PubMed: Kleefstra 2006, PubMed: Kleefstra 2006 - - - (Netherlands) - - - - - KLEFS 9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures 1 1 Johan den Dunnen
00052123 - PubMed: Kleefstra 2009, PubMed: Kleefstra 2009 - M - - - - - - - KLEFS 9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards 1 1 Johan den Dunnen
00296397 - - - F - - - - - - - ? Abnormality of nervous system physiology (HP:0012638); Dystonia (HP:0001332); Tremor (HP:0001337); Head tremor (HP:0002346); Hand tremor (HP:0002378); Torticollis (HP:0000473) 1 1 Andreas Laner
00303374 - - - M - - - - - - - ? Morphological abnormality of the gastrointestinal tract (HP:0012718); Memory impairment (HP:0002354); Intellectual disability (HP:0001249) 2 1 Andreas Laner
00309663 - - - M - - - - - - - ? Choreoathetosis (HP:0001266); Abnormality of movement (HP:0100022) 2 1 Andreas Laner
00418593 Fam1PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Oman - - - - - CF failure to thrive, weight below 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, exertional dyspnea, basal crackles, bronchial wall thickening, hilar lymphadenopathy mild bronchiectasis, fibrotic bands; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities, ECG normal 1 4 Johan den Dunnen
00428193 - Wiel 2023, Journal: Wiel 2023 - - - - - - - - - NDD - 1 1 Johan den Dunnen
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