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Results: 1 to 20 of 80

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*309550 - FMR1 GENE; FMR1

FRAGILE SITE, FOLIC ACID TYPE, RARE, fraXq27.3, INCLUDED; FRAXA, INCLUDED

Cytogenetic locations: Xq27.3

11.

#306400 - GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD

CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED

Cytogenetic locations: Xp11.4

14.

#268220 - RHABDOMYOSARCOMA 2; RMS2

Cytogenetic locations: 2q36.1, 1pter-p36.13, 1p36.13

15.

#256050 - ATELOSTEOGENESIS, TYPE II; AO2

DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED

Cytogenetic locations: 5q32

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#247200 - MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED

Cytogenetic locations: 17p13.3

19.

#229300 - FRIEDREICH ATAXIA 1; FRDA

FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED

Cytogenetic locations: 9q21.11

20.

#226600 - EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED

Cytogenetic locations: 1pter-p36.13, 3p21.31

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