All individuals with variants in gene MTR

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00050656 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the hypothalamus-pituitary axis, intellectual disability moderate, generalized seizures, frontal upsweep of hair, abnormality of the eyebrow, low hanging columella, broad distal phalanx of finger, prominent fingertip pads, generalized hirsutism, prominent nipples, small hallux 1 1 Johan den Dunnen
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