Rare Disease Library

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

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

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

MIR140-related spondyloepiphyseal dysplasia

MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

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

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS

SIX2-related frontonasal dysplasia

SIX2-related FND

Spondyloepimetaphyseal dysplasia, matrilin-3 type

SEMD, MATN3-related · SEMD, matrilin-3 type

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K