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At Risk (1959)

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Y (6142)
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5-14 (4698)
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Search Results for - ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED

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Allelic Variant 1
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Description

Product

Source

(Showing Items: 50)

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GM15879

ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | TRANSLOCATED CHROMOSOME

LCL

B-Lymphocyte

View

GM26597

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

LCL

B-Lymphocyte

View

GM26596

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

Fibroblast

Skin, Arm

View

GM26595

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

LCL

B-Lymphocyte

View

NA26595

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

DNA

LCL

View

GM14818

CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

Fibroblast

View

GM14817

CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

LCL

B-Lymphocyte

View

GM17934

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

LCL

B-Lymphocyte

View

NA17934

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

DNA

LCL

View

GM15903

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

LCL

B-Lymphocyte

View

NA10490

ADRENAL HYPOPLASIA, CONGENITAL; AHC

DNA

LCL

View

GM09964

ADRENAL HYPOPLASIA, CONGENITAL; AHC

Fibroblast

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GM10490

ADRENAL HYPOPLASIA, CONGENITAL; AHC

LCL

B-Lymphocyte

View

GM10224

THANATOPHORIC DYSPLASIA; TD

Fibroblast

View

GM10981

MARSHALL SYNDROME

Fibroblast

View

GM10980

MARSHALL SYNDROME

LCL

B-Lymphocyte

View

NA10980

MARSHALL SYNDROME

DNA

LCL

View

GM10982

MARSHALL SYNDROME

LCL

B-Lymphocyte

View

GM00097

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | TRANSLOCATED CHROMOSOME

Fibroblast

View

GM10983

MARSHALL SYNDROME

LCL

B-Lymphocyte

View

GM20738

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

LCL

B-Lymphocyte

View

NA20738

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

DNA

LCL

View

GM25515

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | DIASTROPHIC DYSPLASIA; DTD | SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2 | SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

Fibroblast

View

NA25515

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C | DIASTROPHIC DYSPLASIA; DTD | SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2 | SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2

DNA

Fibroblast

View

ND43672

DYSTONIA 3, TORSION, X-LINKED; DYT3

DNA

Whole Blood

View

ND43671

DYSTONIA 3, TORSION, X-LINKED; DYT3

DNA

Whole Blood

View

ND43654

DYSTONIA 3, TORSION, X-LINKED; DYT3

DNA

Whole Blood

View

ND43667

DYSTONIA 3, TORSION, X-LINKED; DYT3

DNA

Whole Blood

View

GM04179

KNIEST DYSPLASIA

Fibroblast

View

GM08856

THANATOPHORIC DYSPLASIA; TD

Fibroblast

View

GM04911

KNIEST DYSPLASIA

Fibroblast

View

GM04596

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

Fibroblast

View

GM14106

KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700

LCL

B-Lymphocyte

View

NA14106

KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700

DNA

LCL

View

GM09578

MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE 1; MRX1

Fibroblast

View

GM22519

CRANIOECTODERMAL DYSPLASIA

LCL

B-Lymphocyte

View

NA13034

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3

DNA

Fibroblast

View

NA04598

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

DNA

Fibroblast

View

GM04593

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

Fibroblast

View

NA04594

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1

DNA

Fibroblast

View

GM14089

THANATOPHORIC DYSPLASIA; UNKNOWN TYPE

Fibroblast

Muscle, Unspecified

View

GM14088

THANATOPHORIC DYSPLASIA; UNKNOWN TYPE

Fibroblast

Lung, Lung

View

GM12125

SPONASTRIME DYSPLASIA

LCL

B-Lymphocyte

View

GM09663

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

Fibroblast

View

GM28395

ATR-X SYNDROME

LCL

B-Lymphocyte

View

NA10894

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

DNA

LCL

View

GM11814

SPONASTRIME DYSPLASIA

LCL

B-Lymphocyte

View

GM10894

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

LCL

B-Lymphocyte

View

NA11814

SPONASTRIME DYSPLASIA

DNA

LCL

View

GM10893

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

LCL

B-Lymphocyte

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