All individuals with variants in gene ANKH

17 entries on 1 page. Showing entries 1 - 17.
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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
00050565 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? cognitive impairment, restlessness, inappropriate behavior 1 1 Johan den Dunnen
00117870 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ64, sensineural hearing loss >50dB, conductive hearing loss, arthrosis/joint pain, short stature, hypophosphatemia 1 1 Jirko Kühnisch
00117871 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ56, conductive hearing loss, arthrosis/joint pain, no short stature, hypophosphatemia 1 1 Jirko Kühnisch
00117872 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117873 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117874 - PubMed: Morava 2011 - M yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ59, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, arthrosis/joint pain, teeth anomalies, short stature, hypophosphatemia 1 1 Jirko Kühnisch
00117875 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ61, sensineural hearing loss, conductive hearing loss >50dB, stapes fixation, arthrosis/joint pain, teeth anomalies, short stature, hypophosphatemia 1 1 Jirko Kühnisch
00117876 - PubMed: Morava 2011 - M yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, 1 1 Jirko Kühnisch
00117877 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117878 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117879 - PubMed: Morava 2011 - M yes Turkey Turkish - 0 - - Healthy/Control no MR, delayed speech development, congenital sensineural hearing loss, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117880 - PubMed: Morava 2011 - M yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117881 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - Healthy/Control no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia 1 1 Jirko Kühnisch
00117882 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ66, sensineural hearing loss >50dB, conductive hearing loss >50dB, stapes fixation, no arthrosis/joint pain, teeth anomalies, no short stature, hypophosphatemia 1 1 Jirko Kühnisch
00117883 - PubMed: Morava 2011 - F yes Turkey Turkish - 0 - - ? MRDA syndrome; IQ65, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, teeth anomalies, growth curve follows 2SD, hypophosphatemia 1 1 Jirko Kühnisch
00293773 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 16 Mohammed Faruq
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