Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism (MYMY4)

Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism(来自ICD-11)
别称:
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism
Chromosome Xq28 Deletion Syndrome, 3.4-Kb
Syndromic Moyamoya Disease
Moyamoya Disease 4
Mymy4
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Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism, also known as moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, is related to moyamoya disease 1 and stroke, ischemic. An important gene associated with Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism is MYMY4 (Moyamoya Disease 4). Affiliated tissues include brain and eye, and related phenotypes are moyamoya phenomenon and hypertension
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MALACARDS
XL
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All ages
<1/1000000
1
8
2

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