![[deutsche Flagge]](../../Bilder/deutsch.gif){kind=small}
News:
Molecular Genetics -
Brain Malformations and Congenital Muscular Dystrophies
Brain Malformations and Congenital Muscular Dystrophies
|
disease
|
OMIM
disease |
gene OMIM
(analysis methods¹) |
localisation
|
|
Brain Malformations and Congenital Muscular Dystrophies
|
|||
|
Contact: PD Dr. med. Ute Hehr, MD, Genetic counsellor ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
|
|||
|
Andermann Syndrome
|
KCC3/SLC12A6
(K / S)
|
15q13-q14
|
|
|
Cerebral Cavernous Malformations
|
7q11.2-q21
|
||
|
7p13
|
|||
|
3q26.1
|
|||
|
Double Cortex-Syndrome / Lissencephaly X linked
|
Xq22.3-q23
|
||
|
Limb-girdle Muscular Dystrophy LGMD2I
|
FKRP
(K / S)
|
19q13.3
|
|
|
Limb-girdle Muscular Dystrophy LGMD2K
|
POMT1
(K / S)
|
9q34.1
|
|
|
Holoprosencephaly (HPE)
|
|
|
|
|
HPE2
|
2p21
|
||
|
HPE3
|
7q36
|
||
|
HPE4
|
18p11.3
|
||
|
|
|
2q14
|
|
|
HPE5
|
13q32
|
||
|
Lissenzephaly autosomal dominant
|
LIS1
(FISH / S / MLPA)
|
17p13.3
|
|
|
Muscle-eye-brain Disease
|
POMGnT1
(K / S)
|
1p34-p33
|
|
|
Fukuyama Congenital Muscular Dystrophy
|
FCMD
(K / S / FI)
|
9q31
|
|
|
Muscular Dystrophy, congenital MDC1C
|
FKRP
(K / S)
|
19q13.3
|
|
|
MDC1D
|
LARGE
(K / S)
|
22q12.3-q13.1
|
|
|
Partington Syndrome
|
Xp22.13
|
||
|
Periventricular Nodular Heterotopia
|
FLNA
(K / S / MLPA)
|
Xq28
|
|
|
Polymicrogyria, bilateral asymmetric
|
TUBB2B
(K / S)
|
6p25.2
|
|
|
Polymicrogyria, bilateral frontoparietal
|
GPR56
(K / S)
|
16q13
|
|
|
PROUD Syndrome
|
Xp22.13
|
||
|
Septooptic Dysplasia
|
3p21.2-p21.1
|
||
|
Walker-Warburg Syndrome
|
POMT1
(K / S)
|
9q34.1
|
|
|
POMT2
(K / S)
|
14q24.3
|
||
|
FCMD
(K / S / FI)
|
9q31
|
||
|
FKRP
(K / S)
|
19q13.3
|
||
|
LARGE
(K / S)
|
22q12.3-q13.1
|
||
|
RELN
(K)
|
7q22
|
||
|
Infantil Spasm Syndrome / WEST Syndrome, X linked
|
Xp22.13
|
||
|
XLAG
|
Xp22.13
|
||
¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion