Rare Disease Library

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Craniomicromelic syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

Odontotrichomelic syndrome

Freire-Maia syndrome

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome