Rare Disease Library

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

Meigs syndrome

Demons-Meigs syndrome

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Progressive supranuclear palsy

PSP 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

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M