Molecular Genetic Diagnostics

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Mental Retardation and Congenital Anomalies

Prof. Dr. med. Elke Holinski-Feder, Dr. med. Stefanie Balg, Dr. med. Teresa Neuhann,
Brigitte Schönfeld

Achondroplasia - FGFR3

Autism - Microdeletion 16p11.2

Angelman Syndrome

Alpha Thalassemia with mental Retardation, X-chromosomal - ATRX

ARX-associated Diseases - ARX

Beckwith-Wiedemann Syndrome

Beradinelli-Seip-Congenital-Lipodystrophia - BSCL2

Coffin-Lowry Syndrome - RPS6KA3

Cri-du-chat Syndrome, Microdeletion 5p15.2

DiGeorge Syndrome, VCFS, Microdeletion 22q11.2

Fragile X Syndrome - FMR1

Hypochondroplasia - FGFR3

Ichthyosis, X-linked, Microdeletion Xp22.31

Kabuki Syndrome - MLL2

Legius Syndrome - SPRED1

Marfan Syndrome - FBN1

MECP2 Duplication Syndrome

Menkes Disease - ATP7A

Microdeletion and Microduplication Syndromes - Overview

Microdeletion Syndrome 1p36

Microdeletion 17q21.31

Microduplication 7q11.23

Microduplication 22q11.2

Miller-Dieker-Lissencephaly Syndrome, Microdeletion 17p13.3

Mowat-Wilson Syndrome - ZEB2

Opitz GBBB Syndrome, X-linked - MID1

Pitt-Hopkins Syndrome - TCF4

Potocki-Lupski Syndrome, Microduplication 17p11.2

Prader-Willi Syndrome

Rett Syndrome - MECP2

Rett Syndrome, congenital variant - FOXG1

Rett Syndrome with Infantile Epilepsy - CDKL5

SHOX microdeletion Xp22.32

Silver-Russell Syndrome

Smith-Magenis Syndrome, Microdeletion 17p11.2 - RAI1

Sotos Syndrome - NSD1

Stickler Syndrome - COL2A1, COL11A1, COL11A2

Stuve-Wiedemann Syndrome - LIFR

Thanatophoric Dysplasia - FGFR3

Weaver Syndrome - EZH2

Weill-Marchesani Syndrome - ADAMTS10, ADAMTS17, FBN1

Williams Syndrome, Microdeletion 7q11.23

Wolf-Hirschhorn Syndrome, Microdeletion 4p16.3

X-linked mental retardation type Christianson - SLC9A6

X -linked mental retardation, Creatine Deficiency Syndrome - SLC6A8

X-Linked Mental Retardation, XLMR

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