Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

ORPHA:284169

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

ORPHA:687695

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

ORPHA:313884

16p11.2p12.2 microdeletion syndrome

Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

ORPHA:261211

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

ORPHA:261295

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

ORPHA:251066

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

ORPHA:280325

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424