Rare Disease Library

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Arrhinia-choanal atresia-microphthalmia syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

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

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Isolated cryptophthalmia

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Isolated microspherophakia

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Micro syndrome

WARBM · Warburg micro syndrome

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

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

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

Microphthalmia, Lenz type

Lenz microphthalmia

MMEP syndrome

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

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

OBSOLETE: Microphthalmia-cataract syndrome

OBSOLETE: Congenital cataract-microphthalmia syndrome

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

Pinsky-Di George-Harley syndrome

Microphthalmia-intellectual disability syndrome

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia