Rare Disease Library

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

SETBP1 haploinsufficiency disorder · Intellectual disability-loss of expressive language-facial dysmorphism syndrome

CDKL5-deficiency disorder

CDD

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome

NFAT5 haploinsufficiency

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

KMT5B haploinsufficiency neurodevelopmental disorder

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

PDE4D haploinsufficiency syndrome