Syndromen en synoniemen


AANDOENINGEN en SYNONIEMEN
te vinden bij:



cijfers9q34.3 deletie syndroom
Kleefstra syndroom

15q24 deletie syndroom
Witteveen-Kolk syndroom

17q21.31 microdeletie syndroom
Koolen-de Vries syndroom

22q11 deletie syndroom



A
Aarskog syndroom


achondroplasie

ADNP syndroom

Aicardi syndroom

Alagille syndroom

Albright hereditaire osteodystrofie

α-AASA dehydrogenase deficiëntiepyridoxine-afhankelijke epilepsie

AUTS2 syndroom




B
Bannayan-Riley-Ruvalcaba syndroom


Bardet Biedl syndroom


Beckwith-Wiedemann syndroom


Berardinelli-Seip syndroom

Berardinelli-Seip congenitale lipodystrofieBerardinelli-Seip syndroom

Birt-Hogg-Dube syndroom


Bosch-Boonstra-Schaaf syndroom




C
Cantu syndroom


cardio-facio-cutaan syndroom
CFC syndroom

CFC syndroom


chronische mucocutane candida


Cockayne syndroom


Coffin-Lowry syndroom


Coffin-Siris syndroom


Congenitale gegeneraliseerde lipodystrofie type 1Berardinelli-Seip syndroom

Costello syndroom


Cowden syndroom
PHTS



D
DiGeorge syndroom
22q11 deletie syndroom

Duchenne spierdystrofie


DYRK1A syndroom




E
EDS klassiek


Ehlers-Danlos syndroom, klassieke type
EDS klassiek

erfelijke bloedarmoede
hemoglobinopathieen



F
Fanconi anemie


Floating Harbor syndroom


Friedreichse ataxie




G
Gabriele-de Vries syndroom




H
Helsmoortel-van der Aa syndroom
ADNP syndroom

hemoglobinopathieen


hereditaire multipele exostosen


HME
hereditaire multipele exostosen

Hunter, ziekte van
MPS III



K
Kabuki syndroom


KANSL1 syndroom
Koolen-de Vries syndroom

Kleefstra syndroom


Koolen-de Vries syndroom



L
Laurence-Moon syndroom
Bardet-Biedl syndroom

Laurence-Moon-Bardet-Biedl syndroom
Bardet-Biedl syndroom

Loeys-Dietz syndroom




M
Mandibulofaciale dysostose
Treacher-Collins syndroom
Maroteaux-Lamy, ziekte vanMPS VI

Meckel syndroom
Meckel-Gruber syndroom

Meckel-Gruber syndroom

Meier-Gorlin syndroom


MELAS


MPS type II


MPS type III


MPS type VI


mucopolysaccharidose
MPS

multipele osteochondromen
hereditaire multipele exostosen



N
nagel-patella syndroom


nail-patella syndroom
nagel-patella syndroom

Noonan syndroom


Nijmegen breuksyndroom




P
PHP
Albright hereditaire osteodystrofie

PHTS


PPHP
Albright hereditaire osteodystrofie

Prader-Willi syndroom


pseudohypoparathyreoidie
Albright hereditaire osteodystrofie

pseudopseudohypoparathyreoidie
Albright hereditaire osteodystrofie

PTEN hamartoom tumor syndroom
PHTS

Pyridoxine afhankelijke epilepsie




R
Rieger syndroom


Robinow syndroom




S
Sanfilippo syndroom
MPS III

Schinzel-Giedeon syndroom


Shprintzen syndroom
22q11 deletie syndroom

sikkelcelziekte
hemoglobinopathieen

Silver-Russell syndroom


SIN3A syndroom
Witteveen-Kolk syndroom

SLO syndroom
Smith-Lemli-Opitz syndroom

Smith-Lemli-Opitz syndroom


Smith-Magenis syndroom


Stickler syndroom


Sturge-Weber syndroom

T
TCS
Treacher-Collins syndroom
thanatofore dysplasie

thalassemie (alfa-, beta-)
hemoglobinopathieen
Treacher-Collins syndroom
Treacher-Collins-Franceschetti syndroomTreacher-Collins syndroom



U
Usher syndroom




V
VACTERL


VATER


VCF syndroom
22q11 deletie syndroom

velocardiofaciaal syndroom
22q11 deletie syndroom



W
Weaver syndroom


Witteveen-Kolk syndroom




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