Rare Disease Library

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Progressive supranuclear palsy

PSP syndrome

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

Pseudo-Zellweger syndrome

Thiolase deficiency

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Thalidomide embryopathy

Fetal thalidomide syndrome