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"

19 matching diseasesClear search ×

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

ORPHA:264200

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

ORPHA:276413

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

ORPHA:444002

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

ORPHA:94063

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

ORPHA:261120

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

ORPHA:401935

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

ORPHA:94065

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

ORPHA:352629

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

ORPHA:261250

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

ORPHA:261279

17q24.2 microdeletion syndrome

Del(17)(q24)

ORPHA:529962

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

ORPHA:250989

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

ORPHA:228402

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

ORPHA:284160

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

ORPHA:261190

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

ORPHA:268261

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

ORPHA:261144

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

ORPHA:1587