Rare Disease Library

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

6q terminal deletion syndrome

Blepharofacioskeletal syndrome

Richieri Costa-Guion Almeida-Rodini syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Crouzon syndrome

Crouzon craniofacial dysostosis

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Dermato-cardio-skeletal syndrome, Borrone type

Dermotrichic syndrome

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

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

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Jacobsen syndrome

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

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

OBSOLETE: Cardioskeletal syndrome

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

Ring dermoid of cornea

Ring dermoid syndrome

Velo-facial-skeletal syndrome

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome