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Category: Syndromes

50 results
MKS - Meckel-Gruber syndrome MKS - Meckel-Gruber syndrome
OFD - Orofaciodigital syndrome OFD - Orofaciodigital syndrome
Cardio-Facio-Cutaneous syndrome Cardio-Facio-Cutaneous syndrome
EVC - Ellis-van-Crefeld syndrome EVC - Ellis-van-Crefeld syndrome
MZSDS - Mainzer-Saldino syndrome MZSDS - Mainzer-Saldino syndrome
Limb malformation Limb malformation
GS - Griscelli syndrome GS - Griscelli syndrome
SANDD syndrome SANDD syndrome
aHUS - Atypical hemolytic uremic syndrome, aHUS aHUS - Atypical hemolytic uremic syndrome, aHUS
Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines
MFS - Marfan syndrome MFS - Marfan syndrome
EDS - Ehlers-Danlos syndrome EDS - Ehlers-Danlos syndrome
NS, SRNS - Nephrotic syndrome NS, SRNS - Nephrotic syndrome
Cleidocranial dysplasia Cleidocranial dysplasia
Kabuki syndrome Kabuki syndrome
Angelman-like syndromes Angelman-like syndromes
Nephrocalcinosis, Nephrolithiasis Nephrocalcinosis, Nephrolithiasis
BWS - Beckwith-Wiedemann syndrome BWS - Beckwith-Wiedemann syndrome
ACLS - Acrocallosal syndrome ACLS - Acrocallosal syndrome
BBS - Bardet-Biedl syndrome BBS - Bardet-Biedl syndrome
JBTS - Joubert syndrome JBTS - Joubert syndrome
RSTS, RTS - Rubinstein-Taybi syndrome RSTS, RTS - Rubinstein-Taybi syndrome
Macrosomia Macrosomia
RPSY - Syndromic retinitis pigmentosa RPSY - Syndromic retinitis pigmentosa
CdLS - Cornelia de Lange syndrome CdLS - Cornelia de Lange syndrome
CS - Cockayne syndrome CS - Cockayne syndrome
Usher-Syndrom Usher-Syndrom
Craniosynostoses Craniosynostoses
RD,CRD,ARD - Refsum syndrome RD,CRD,ARD - Refsum syndrome
SRS - Familial Silver-Russell syndrome SRS - Familial Silver-Russell syndrome
Costello syndrome Costello syndrome
Noonan syndrome Noonan syndrome
CSS - Coffin-Siris syndrome CSS - Coffin-Siris syndrome
Shortening of Long Tubular Bones (Acro-Meso-Rhizomelias) Shortening of Long Tubular Bones (Acro-Meso-Rhizomelias)
Proteus syndrome Proteus syndrome
ALGS - Alagille syndrome ALGS - Alagille syndrome
AS - Alport syndrome AS - Alport syndrome
PBD - Peroxisome biogenesis disorders PBD - Peroxisome biogenesis disorders
Syndromic Short stature Syndromic Short stature
ARC syndrome ARC syndrome
USH1 - Usher syndrome type 1 USH1 - Usher syndrome type 1
CHARGE syndrome CHARGE syndrome
CED - Cranioectodermal dysplasia CED - Cranioectodermal dysplasia
Jeune syndrome Jeune syndrome
Kallmann syndrome Kallmann syndrome
VACTERL - VACTERL association VACTERL - VACTERL association
Mitochondriopathies (mitochondrial and nuclear genes) Mitochondriopathies (mitochondrial and nuclear genes)
USH2 - Usher syndrome type 2 USH2 - Usher syndrome type 2
SLSN - Senior-Loken syndrome SLSN - Senior-Loken syndrome
AGS - Aicardi-Goutières syndrome AGS - Aicardi-Goutières syndrome
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