Microphthalmia, Syndromic 10 (MCOPS10)

Microphthalmia, Syndromic 10(来自ICD-11)
别称:
Mcops10
Microphthalmia-Brain Atrophy Syndrome
Syndromic Microphthalmia Type 10
Syndromic Microphthalmia 10
Moba Syndrome
Moba
Microphthalmia and Brain Atrophy
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Microphthalmia, Syndromic 10, also known as mcops10, is related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects and eating disorder. An important gene associated with Microphthalmia, Syndromic 10 is BABAM2 (BRISC And BRCA1 A Complex Member 2). Affiliated tissues include brain and eye, and related phenotypes are blindness and bilateral microphthalmos
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参考文献
MALACARDS
AR
Newborn
<1/1000000
7
39
1

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