Syndromen - Kinderneurologie

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Ziektebeelden Syndromen

10q22-q23 duplicatie syndroom

11q duplicatie syndroom

15q11-q13 duplicatie syndroom

15q13.3 microdeletie syndroom

15q24-deletie syndroom

16p11.2deletie syndroom

16p13.11 duplicatie syndroom

17q12-deletie syndroom

18p-tetrasomie syndroom

18q-deletie syndroom

19q13.11-deletie syndroom

1p duplicatie syndroom

1p36 deletie syndroom

1q21 microdeletie syndroom

1q21 microduplicatie syndroom

21q-deletie syndroom

3p25-deletie syndroom

3q29-duplicatie syndroom

3q29-duplicatie syndroom

49XXXXY-syndroom

4q duplicatie syndroom

9p24-deletie syndroom

9p-deletie syndroom

Aarskog syndroom

Achondroplasie

ACSL4-syndroom

AGO2-syndroom

Aicardi-Goutières Syndroom

Allan-Herndon-Dudley syndroom

ALS2-syndroom

Alstrom syndroom

Angelman syndroom

ANK3-syndroom

ARFGEF1-syndroom

ARHGEF2-syndroom

ARHGEF6-syndroom

ARHGEF9-syndroom

Arthrogrypsosis multiplex congenita

ASH1L-syndroom

ATP1A3-syndroom

ATP8A2-syndroom

ATR-X-syndroom

Au-Kline syndroom

AUTS2-syndroom

Bainbridge-Ropers syndroom

Baraitser-Winter syndroom

Bardet-Biedl syndroom

Basissyndroom

Beaulieu-Boycott-Innes syndroom

Beck-Fahrner syndroom

Beckwith Wiedemann syndroom

Birk-Barel syndroom

Björeson Forsmann Lehman syndroom

Bohring-Opitz syndroom

Bosch-Boonstra-Schaaf optische atrofie syndroom

BPAN

BRMUTD

BRSK2-syndroom

Brugada syndroom

Brunner syndroom

CACNA1A-syndroom

CACNA1C-syndroom

CACNA1E-syndroom

CAMK2G-syndroom

CAMTA1 syndroom

Cantú-syndroom

CAPOS

CAPRIN1-syndroom

CBL syndroom

CDK13-syndroom

CDK16-syndroom

CELF4-syndroom

Cerebellair cognitief affectief syndroom

CFC syndroom

CHARGE-syndroom

CHD2 syndroom

CHD8-syndroom

Chitayat-syndroom

Chopra-Amiel-Gordon syndroom

Christianson-syndroom

CLOVES

CNOT3-syndroom

Cockayne syndroom

Coffin Siris-syndroom

Cohen syndroom

Cohen-Gibson syndroom

COL4A1-syndroom

COL4A2-syndroom

COL4A3BP syndroom

CONDSIAS

Congenitaal centraal hypoventilatie syndroom

Congenitaal hyperinsulinisme

Congenitaal perisylvian syndroom

Congenitaal reductiedefect syndroom

Cornelia de Lange syndroom

Costello syndroom

Cowden syndroom

Cri-du-chat syndroom

CTNNB1-syndroom

CUL3-syndroom

SCA-17

SCA-3

SCN2A-epilepsie