Rare Disease Library

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

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

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome