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Hypoparathyroidism-deafness-renal disease syndrome
characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14
Pronunciation
/ˌhʌɪpəʊˌparəˈθʌɪrɔɪdɪzəm - ˈdɛfnəs - ˈriːnəl dɪˈziːz ˈsɪndrəʊm/
/ˌhaɪpoʊˌpɛrəˈθaɪrɔɪˌdɪzəm - ˈdɛfnəs - ˈrinl dəˈziz ˈsɪnˌdroʊm/
Categories
chromosomal deletion syndrome
rare disease