Rare Disease Library

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

Monoamine oxidase A deficiency

Brunner syndrome

N syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

W syndrome

Pallister-W syndrome