Rare Disease Library

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

PEHO-like syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Trigonocephaly-bifid nose-acral anomalies syndrome

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome