All individuals with variants in gene GDI1

6 entries on 1 page. Showing entries 1 - 6.
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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) 2 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
00050693 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? drooling, unsteady gait, abnormal facial shape, lactose intolerance 1 1 Johan den Dunnen
00183101 25644381-FamD101 PubMed: Hu 2016 family, 7 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 7 Johan den Dunnen
00183135 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00377102 179887 - - M no Germany - - 0 - - MRX41 Macrocephaly, Abnormal location of ears, Low-set ears, Delayed speech and language development, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Hypopigmentation of the skin, Global developmental delay, Abnormal foot morphology, Pes planus, Neurological speech impairment, Language impairment, Abnormality of skin morphology, Neurodevelopmental delay, Increased head circumference 1 1 Andreas Laner
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