Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
xeroderma pigmentosum variant type

Also known as: XPV, photosensitivity with defective DNA synthesis, xeroderma pigmentosum variant, xeroderma pigmentosum variant type, xeroderma pigmentosum with normal DNA repair rates, xeroderma pigmentosum, variant type

XK aprosencephaly

Also known as: Garcia-Lurie syndrome, XK aprosencephaly syndrome, XK-aprosencephaly, XK-aprosencephaly syndrome, Xk syndrome, aprosencephaly syndrome, aprosencephaly-atelencephaly syndrome, atelencephaly

Xq27.3q28 duplication syndrome

Also known as: Xq27.3-q28 microduplication syndrome, chromosome Xq27.3-q28 DUPLICATION syndrome, chromosome xq27.3-q28 duplication syndrome, X-linked recessive, dup(X)(q27.3q28), trisomy Xq27.3-q28, trisomy Xq27.3q28

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