Category: Syndromic developmental defect of the eye
- Ablepharon macrostomia syndrome
- Acrootoocular syndrome
- Aicardi syndrome
- Alagille syndrome
- Aniridia-absent patella syndrome
- Aniridia-intellectual disability syndrome
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Ankyloblepharon filiforme adnatum-cleft palate syndrome
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Autosomal dominant popliteal pterygium syndrome
- Barber-Say syndrome
- Bardet-Biedl syndrome
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blepharophimosis-radioulnar synostosis syndrome
- CHARGE syndrome
- CHIME syndrome
- Cat-eye syndrome
- Cataract-aberrant oral frenula-growth delay syndrome
- Cataract-hypertrichosis-intellectual disability syndrome
- Cataract-intellectual disability-anal atresia-urinary defects syndrome
- Cataract-intellectual disability-hypogonadism syndrome
- Classic homocystinuria
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
- Congenital cataracts, facial dysmorphism, and neuropathy
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofacial microsomia
- Distal trisomy 14q
- Encephalopathy due to sulfite oxidase deficiency
- Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
- Focal dermal hypoplasia
- Fraser syndrome
- Frontofacionasal dysplasia
- GMS syndrome
- Gillespie syndrome
- Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
- Glaucoma-sleep apnea syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Isolated Pierre Robin sequence
- Kaufman oculocerebrofacial syndrome
- King-Denborough syndrome
- Knobloch syndrome
- Laurence-Moon syndrome
- Lowe syndrome
- Lowry-MacLean syndrome
- Macular coloboma-cleft palate-hallux valgus syndrome
- Marinesco-Sjögren syndrome
- Marshall syndrome
- Meckel syndrome
- Megalocornea-intellectual disability syndrome
- Melnick-Needles syndrome
- Microcornea-corectopia-macular hypoplasia syndrome
- Microcornea-glaucoma-absent frontal sinuses syndrome
- Microphthalmia with brain and digit anomalies
- Microphthalmia with linear skin defects syndrome
- Microspherophakia-metaphyseal dysplasia syndrome
- Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- Miller syndrome
- Monosomy 13q14
- Nager syndrome
- Nasopalpebral lipoma-coloboma syndrome
- Nathalie syndrome
- Noonan syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Norrie disease
- Oculocerebrocutaneous syndrome
- Oculofaciocardiodental syndrome
- Ophthalmo-acromelic syndrome
- Ophthalmomandibulomelic dysplasia
- Peters plus syndrome
- Phakomatosis pigmentovascularis
- Renal coloboma syndrome
- Rubinstein-Taybi syndrome
- Septo-optic dysplasia
- Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
- Smith-Lemli-Opitz syndrome
- Stickler syndrome
- Sturge-Weber syndrome
- Treacher Collins syndrome
- Turner syndrome
- Von Hippel-Lindau syndrome
- WAGR syndrome
- Waardenburg syndrome
- Weill-Marchesani syndrome
- Williams syndrome
This Category:
Syndromic developmental defect of the eye
Syndromic developmental defect of the eye
Subcategories:
- OrphaNet: ORPHA:108987