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

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

Waardenburg syndrome

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4