hypogonadism
Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.
Recently germline mutations in <span class="gene" id="20140240-8-31-38">SLC29A3</span> were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and <span class="disease" id="20140240-8-280-292">hypogonadism</span>; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.