Rare Disease Library

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

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

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

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

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

ARCN1-related syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder