Rare Disease Library

C syndrome

OTCS · Opitz C trigonocephaly

Achalasia-microcephaly syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

Familial scaphocephaly syndrome

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Trigonocephaly-bifid nose-acral anomalies syndrome

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Triploidy syndrome

Trisomy 13 syndrome

Patau syndrome

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Trisomy 1q syndrome

Duplication 1q

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

Trisomy 8p syndrome

Duplication 8p

Trisomy 8q syndrome

Duplication 8q

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome