Fragile x syndrome - OMIM - NCBI

Fragile x syndrome - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Fragile x syndrome" 

#300624 - FRAGILE X SYNDROME; FXS

Cytogenetic locations: Xq27.3

OMIM:

 

300624

Gene summaries Genetic tests Medical literature

Select item 3006232.

#300623 - FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

Cytogenetic locations: Xq27.3

OMIM:

 

300623

Gene summaries Genetic tests Medical literature

Select item 3095483.

#309548 - MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

Cytogenetic locations: Xq28

OMIM:

 

309548

Gene summaries Genetic tests Medical literature

Select item 3000314.

*300031 - FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A

FRAGILE SITE, FOLIC ACID TYPE, FRA(X)(q28) F, INCLUDED; FRAXF, INCLUDED

Cytogenetic locations: Xq28

OMIM:

 

300031

Gene summaries Genetic tests Medical literature

Select item 3095505.

*309550 - FMR1 GENE; FMR1

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

Cytogenetic locations: Xq27.3

OMIM:

 

309550

Gene summaries Genetic tests Medical literature

Select item 3008066.

*300806 - AF4/FMR2 FAMILY, MEMBER 2; AFF2

FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28) E, INCLUDED; FRAXE, INCLUDED

Cytogenetic locations: Xq28

OMIM:

 

300806

Gene summaries Genetic tests Medical literature

Select item 3113607.

#311360 - PREMATURE OVARIAN FAILURE 1; POF1

Cytogenetic locations: Xq27.3

OMIM:

 

311360

Gene summaries Genetic tests Medical literature

Select item 6053398.

*605339 - FMR1 AUTOSOMAL HOMOLOG 2; FXR2

Cytogenetic locations: 17p13.1

OMIM:

 

605339

Gene summaries Genetic tests Medical literature

Select item 6008199.

*600819 - FMR1 AUTOSOMAL HOMOLOG 1; FXR1

Cytogenetic locations: 3q26.33

OMIM:

 

600819

Gene summaries Genetic tests Medical literature

Select item 13657010.

#136570 - CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB

FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED; FRA16E, INCLUDED

Cytogenetic locations: 16p12

OMIM:

 

136570

Gene summaries Genetic tests Medical literature

Select item 60065111.

#600651 - FRAGILE SITE 11B; FRA11B

OMIM:

 

600651

Gene summaries Genetic tests Medical literature

Select item 60146412.

*601464 - AF4/FMR2 FAMILY, MEMBER 3; AFF3

FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(2)(q11.2), INCLUDED; FRA2A, INCLUDED

Cytogenetic locations: 2q11.2

OMIM:

 

601464

Gene summaries Genetic tests Medical literature

Select item 60488913.

*604889 - NEUROBEACHIN; NBEA

FRAGILE SITE FRA13A, INCLUDED

Cytogenetic locations: 13q13.3

OMIM:

 

604889

Gene summaries Genetic tests Medical literature

Select item 30023814.

#300238 - MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11

Cytogenetic locations: Xq26.3

OMIM:

 

300238

Gene summaries Genetic tests Medical literature

Select item 30958015.

#309580 - MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Cytogenetic locations: Xq21.1

OMIM:

 

309580

Gene summaries Genetic tests Medical literature

Select item 30026316.

#300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

Cytogenetic locations: Xp11.22

OMIM:

 

300263

Gene summaries Genetic tests Medical literature

Select item 30952017.

#309520 - LUJAN-FRYNS SYNDROME

Cytogenetic locations: Xq13.1

OMIM:

 

309520

Gene summaries Genetic tests Medical literature

Select item 30105018.

#301050 - ALPORT SYNDROME, X-LINKED; ATS

Cytogenetic locations: Xq22.3

OMIM:

 

301050

Gene summaries Genetic tests Medical literature

Select item 30500019.

#305000 - DYSKERATOSIS CONGENITA, X-LINKED; DKCX

HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDED

Cytogenetic locations: Xq28

OMIM:

 

305000

Gene summaries Genetic tests Medical literature

Select item 30052320.

#300523 - ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Cytogenetic locations: Xq13.2

OMIM:

 

300523

Gene summaries Genetic tests Medical literature