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| Congenital hypothyroidism v0.0 | PROP1 |
Zornitza Stark gene: PROP1 was added gene: PROP1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROP1 were set to 15126542; 16984240; 9768691; 15472175; 26416826 (2015 review); 23652424 Phenotypes for gene: PROP1 were set to Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time; GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency; Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations; Pituitary hormone deficiency, combined, 2, 262600 |
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