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Page 1: X_LINKED

8/12/2019 X_LINKED

http://slidepdf.com/reader/full/xlinked 1/1

Sex linkage: X-linked disordersX-LINKED RECESSIVE

 IMMUNE:

Immune Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked severe combined

immunodeiciency · X-linked agammaglobulinemia · !y"er-Ig# syndrome ty"e $ · I%&X · X-linkedlym"ho"rolierative disease

 HEMATOLOGIC:

!aemo"hilia A · !aemo"hilia B · X-linked sideroblastic anemia

 ENDOCRINE:

Androgen insensitivity syndrome'ennedy disease · A$ allmann syndrome · X-linked adrenal

hy"o"lasia congenita

 METABOLIC:

Amino acid: *rnithine transcarbamylase deiciency · *culocerebrorenal syndrome

Dyslipidemia: Adrenoleukodystro"hy

Caro!ydra"e me"aolism: +lucose-,-"hos"hate dehydrogenase deiciency · %yruvatedehydrogenase deiciency · anon disease'glycogen storage disease .y"e Iib/

Lipid s"orage disorder: 0abry1s disease

#$copolysacc!aridosis: !unter syndrome

%$rine-pyrimidine me"aolism: esch-2yhan syndrome

#ineral: #enkes disease

 NERVOUS SYSTEM:

X-Linked men"al re"arda"ion: Coin-o3ry syndrome · 0ragile X syndrome · #A4A syndrome ·

X-linked al"ha thalassemia mental retardation syndrome · 4iderius X-linked mental retardation syndrome

Eye disorders: Color blindness (red and green5 but not blue) · *cular albinism ($) · 2orrie disease ·

Choroideremiaother6 Charcot-#arie-.ooth disease (C#.X7-8) · %eli9aeus-#er9bacher disease · 4#AX7

Skin and rela"ed "iss$e: yskeratosis congenita · !y"ohidrotic ectodermal dys"lasia (&A) · X-

linked ichthyosis · X-linked endothelial corneal dystro"hy

Ne$rom$sc$lar: Becker1s muscular dystro"hy'uchenne · Centronuclear myo"athy (#.#$) ·

Conradi-!:nermann syndrome

&rologic: Al"ort syndrome · ent1s disease · X-linked ne"hrogenic diabetes insi"idus

No primary sys"em: Barth syndrome · #ceod syndrome · 4im"son-+olabi-Behmel syndrome

X-LINKED D'#INAN(

X-linked hy"o"hos"hatemia · 0ocal dermal hy"o"lasia · Aicardi syndrome · Incontinentia "igmenti · ;ettsyndrome · C!I syndrome · u<an-0ryns syndrome