All individuals with variants in gene GLRA1

40 entries on 1 page. Showing entries 1 - 40.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00112202 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112203 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112204 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112205 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112206 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 2 1 Johan den Dunnen
00112207 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112208 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112209 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112210 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 2 1 Johan den Dunnen
00112211 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 2 1 Johan den Dunnen
00112212 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112213 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112214 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112215 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112216 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112217 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112218 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112219 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112220 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112221 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112222 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112223 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 2 1 Johan den Dunnen
00112224 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112225 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112226 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112227 - Humeny [2002] - - - - - - 0 - - HKPX - 1 1 Johan den Dunnen
00112228 - Saul [1999] In a pedigree showing dominant transmission of hyperekplexia, - - - - - 0 - - HKPX - 1 1 Johan den Dunnen
00112229 - Becker [2007] - - - - - - 0 - - HKPX Symptoms of stiff baby syndrome in the index patient (30-3, age=5 weeks) were diagnosed clinically shortly after birth, After birth, patient 30-3 suffered from severe muscular hypertonia and hyperreflexia. 1 1 Johan den Dunnen
00112230 - Lapunzina [2003] Mutations in this hot spot domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated. - - - - - 0 - - HKPX - 1 1 Johan den Dunnen
00112231 - Elmslie [1996] - - - - - - 0 - - HKPX - 1 1 Johan den Dunnen
00112232 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00112233 - Kang [2008] - - - Korea - - 0 - - HKPX male infant with generalized stiffness that was observed from the first 3 days of life. He showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. 1 1 Johan den Dunnen
00112234 - Elmslie [1996] - - - - - - 0 - - HKPX - 1 1 Johan den Dunnen
00112235 - Leiden, unpublished - - - Netherlands - - 0 - - HKPX - 1 1 Johan den Dunnen
00163755 - - - - - - - - 0 - - HKPX - 2 1 Ivan Milenkovic
00293799 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 21 Mohammed Faruq
00320001 171467 - - M ? Finland - - 0 - - HKPX Abnormality of the nervous system, Motor seizure, Hyperexplexia, father also affected 1 1 Andreas Laner
00374332 S-4666 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Global developmental delay and microcephaly 1 1 Johan den Dunnen
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