Rare Disease Library

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Achalasia-microcephaly syndrome

Autosomal dominant chorioretinopathy-microcephaly syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Thoracic dysplasia-hydrocephalus syndrome

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome