Rare Disease Library

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Macrophage activation syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Noonan syndrome and Noonan-related syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Rauch-Steindl syndrome

NSD2-related syndrome