Rare Disease Library

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Delpire-McNeill syndrome

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

Structural developmental eye defect

Structural developmental eye defect of genetic origin

Syndrome with 46,XX difference of sex development

Syndrome with 46,XX DSD · Syndrome with 46,XX disorder of sex development