Prenatal testing - OMIM - NCBI

Prenatal testing - OMIM - NCBI



From NIH OMIM

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

---

• Search OMIM for "Prenatal testing" 

#616287 - LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Cytogenetic locations: 12q13.12

OMIM:

 

616287

Gene summaries Genetic tests Medical literature

Select item 2325002.

#232500 - GLYCOGEN STORAGE DISEASE IV; GSD4

GSD IV, CLASSIC HEPATIC, INCLUDED

Cytogenetic locations: 3p12.2

OMIM:

 

232500

Gene summaries Genetic tests Medical literature

Select item 2584803.

#258480 - OPSISMODYSPLASIA; OPSMD

Cytogenetic locations: 11q13.4

OMIM:

 

258480

Gene summaries Genetic tests Medical literature

Select item 1609004.

#160900 - MYOTONIC DYSTROPHY 1; DM1

Cytogenetic locations: 19q13.32

OMIM:

 

160900

Gene summaries Genetic tests Medical literature

Select item 3090005.

#309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Cytogenetic locations: Xq26.1

OMIM:

 

309000

Gene summaries Genetic tests Medical literature

Select item 2704006.

#270400 - SMITH-LEMLI-OPITZ SYNDROME; SLOS

Cytogenetic locations: 11q13.4

OMIM:

 

270400

Gene summaries Genetic tests Medical literature

Select item 2180407.

#218040 - COSTELLO SYNDROME; CSTLO

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDED

Cytogenetic locations: 11p15.5

OMIM:

 

218040

Gene summaries Genetic tests Medical literature

Select item 2533008.

#253300 - SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

Cytogenetic locations: 5q13.2

OMIM:

 

253300

Gene summaries Genetic tests Medical literature

Select item 2616009.

#261600 - PHENYLKETONURIA; PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED

Cytogenetic locations: 12q23.2

OMIM:

 

261600

Gene summaries Genetic tests Medical literature

Select item 30990010.

#309900 - MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Cytogenetic locations: Xq28

OMIM:

 

309900

Gene summaries Genetic tests Medical literature

Select item 61535511.

#615355 - NOONAN SYNDROME 8; NS8

Cytogenetic locations: 1q22

OMIM:

 

615355

Gene summaries Genetic tests Medical literature

Select item 60037312.

#600373 - CODAS SYNDROME

Cytogenetic locations: 19p13.3

OMIM:

 

600373

Gene summaries Genetic tests Medical literature

Select item 31287013.

#312870 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1

Cytogenetic locations: Xq26.2

OMIM:

 

312870

Gene summaries Genetic tests Medical literature

Select item 12247014.

#122470 - CORNELIA DE LANGE SYNDROME 1; CDLS1

Cytogenetic locations: 5p13.2

OMIM:

 

122470

Gene summaries Genetic tests Medical literature

Select item 18805515.

#188055 - THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED

Cytogenetic locations: 1q24.2

OMIM:

 

188055

Gene summaries Genetic tests Medical literature

Select item 25722016.

#257220 - NIEMANN-PICK DISEASE, TYPE C1; NPC1

NIEMANN-PICK DISEASE, TYPE D, INCLUDED

Cytogenetic locations: 18q11.2

OMIM:

 

257220

Gene summaries Genetic tests Medical literature

Select item 60915217.

#609152 - HYPERTHYROIDISM, NONAUTOIMMUNE

Cytogenetic locations: 14q31.1

OMIM:

 

609152

Gene summaries Genetic tests Medical literature

Select item 30810018.

#308100 - ICHTHYOSIS, X-LINKED; XLI

ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED

Cytogenetic locations: Xp22.31

OMIM:

 

308100

Gene summaries Genetic tests Medical literature

Select item 61705319.

#617053 - MIRAGE SYNDROME; MIRAGE

Cytogenetic locations: 7q21.2

OMIM:

 

617053

Gene summaries Genetic tests Medical literature

Select item 61302620.

#613026 - CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL

Cytogenetic locations: 19q13.11

OMIM:

 

613026

Gene summaries Genetic tests Medical literature