Rare Disease Library

Atypical Werner syndrome

Atypical progeroid syndrome

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Atypical Timothy syndrome

ATS · Atypical LQT8

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Fontaine progeroid syndrome

Genetic progeroid syndrome

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Progeroid syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

Marbach-Rustad progeroid syndrome · LEMD2-associated nuclear envelopathy with early progeroid appearance