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Summary
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 CHNG4
THYROID-STIMULATING HORMONE DEFICIENCY TSH DEFICIENCY
275100
OMIM = Online Medalian Inheritance of Men
90674
1p13.2
rare
autosomal recessive
mutation in the TSHB gene
symptoms
growth retardation
hernia
hoarse cry
hypothyroidism
hypotonia
macroglossia, large/protuding tongue
mental retardation
omphalocele
laboratory finding
Thyroid-stimulating hormone (TSH) lowblood, serum
Literature
Segawa MHereditary progressive dystonia with marked diurnal fluctuationBrain Dev333195-2012011