Rare Disease Library

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Macrocephaly-developmental delay syndrome

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome