Rare Disease Library

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

OBSOLETE: Non-distal monosomy 20q

OBSOLETE: Non-distal deletion 20q · OBSOLETE: Non-telomeric monosomy 20q

OBSOLETE: Non-distal monosomy 7p

OBSOLETE: Non-distal deletion 7p · OBSOLETE: Non-telomeric monosomy 7p

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)