| children | - Ablepharon macrostomia syndrome 718575002
- Abruzzo Erickson syndrome 718574003
- Acrorenoocular syndrome 720415006
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 725464001
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Aicardi's syndrome 80651009
- Alacrima 253215004
- Albinotic fundus 55819001
- Aniridia and absent patella syndrome 720467005
- Aniridia and intellectual disability syndrome 720468000
- Aniridia, ptosis, intellectual disability, familial obesity syndrome 720987001
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- Anophthalmia plus syndrome 720496006
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome 1222706005
- Aplasia cutis congenita with epibulbar dermoid syndrome 723554006
- Aplasia cutis with myopia syndrome 720499004
- Aplasia of lacrimal and salivary gland 715656004
- Ataxia with tapetoretinal degeneration syndrome 783203003
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
- Atrophia bulborum hereditaria 15228007
- Autosomal dominant cystoid macular edema 312921000
- Autosomal dominant keratitis 715339004
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome 1229999001
- Autosomal dominant neovascular inflammatory vitreoretinopathy 770791000
- Autosomal dominant progressive external ophthalmoplegia 827115000
- Autosomal dominant pterygium of conjunctiva 716197003
- Autosomal dominant rhegmatogenous retinal detachment 773727009
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 715366004
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 725408001
- Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome 766814006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive dysgenesis of anterior segment of eye 1197358003
- Autosomal recessive progressive external ophthalmoplegia 827117008
- Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome 1204415006
- Axenfeld anomaly 204152008
- Behr syndrome 718221007 removed: 2019-07-31
- Best vitelliform macular dystrophy 763387005
- Blepharophimosis, intellectual disability syndrome, Verloes type 778009001
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome 717914000
- Blepharoptosis, myopia, ectopia lentis syndrome 717915004
- Blindness, scoliosis, arachnodactyly syndrome 717920004
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Bradyopsia 711163009
- Brittle cornea syndrome 719096006
- Cardiomyopathy with cataract and hip spine disease syndrome 720609003
- Cataract and microcornea syndrome 722382006
- Cataract glaucoma syndrome 718851007
- Cataract, congenital heart disease, neural tube defect syndrome 726704006
- Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008
- Cerebellar ataxia with oculomotor apraxia type 4 1217230002
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebroretinal microangiopathy with calcifications and cysts 711482008
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004
- Cochleosaccular degeneration and cataract syndrome 715528001
- Coloboma of macula with brachydactyly type B syndrome 717785002
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005
- Combined deficiency of sialidase AND beta galactosidase 35691006
- Congenital blue dot cataract 204138006
- Congenital cataract ichthyosis syndrome 732952003
- Congenital cataract microcornea with corneal opacity 1279837000
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital cataract, hearing loss, severe developmental delay syndrome 773648002
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital cataracts, facial dysmorphism and neuropathy 702433001
- Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration 715436007
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
- Congenital sutural cataract 253226005
- Coralliform cataract 890350009
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Crome syndrome 722381004
- Cryptophthalmos syndrome 204102004
- Dacryocystitis and osteopoikilosis syndrome 721082002
- de Barsey syndrome 59252009
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness and myopia syndrome 720506002
- Diffuse mesangial sclerosis with ocular abnormalities 236528009
- Disorder of eye co-occurrent and due to Marfan syndrome 15993551000119100
- Distichiasis-lymphedema syndrome 8634009
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Duane retraction syndrome with congenital deafness 1230014007
- Duplication of eyebrow and syndactyly syndrome 733070005
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectopia lentis et pupillae 419237004
- Ectopia lentis, chorioretinal dystrophy, myopia syndrome 722437006
- EDICT syndrome 722439009
- Encephalopathy due to sulfite oxidase deficiency 715980003
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Epibulbar lipodermoid, preauricular appendage, polythelia syndrome 1208480004
- Epilepsy telangiectasia syndrome 733032006
- Eye defects, arachnodactyly, cardiopathy syndrome 1208342001
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome 770728003
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Familial congenital nasolacrimal duct obstruction 1230016009
- Familial congenital palsy of trochlear nerve 782679002
- Familial isolated trichomegaly 764523004
- Fish-eye disease 238092004
- Foveal hypoplasia with presenile cataract syndrome 778042000
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome 782754006
- Frank-Ter Haar syndrome 720958002
- Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 773628009
- Fundus pulverulentus 770437002
- GEMSS syndrome 722450007
- Glaucoma and sleep apnea syndrome 719976001
- Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009
- GMS syndrome 716024001
- Granulomatous inflammatory arthritis, dermatitis and uveitis, familial 699861000
- Harlequin ichthyosis 205548006
- Heide syndrome 716189005
- Helicoid peripapillary chorioretinal degeneration 724384008
- Hemifacial hyperplasia strabismus syndrome 733046006
- Hereditary choroidal dystrophy 74469006
- Hereditary corneal dystrophy 77797009
- Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome 721142006 removed: 2019-07-31
- Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009
- Hereditary retinal dystrophy 41799005
- Hereditary vascular retinopathy 721141004 removed: 2019-07-31
- Hereditary vitreoretinopathy 232062002
- Horizontal gaze palsy with progressive scoliosis 702381007
- Hyperferritinemia cataract syndrome 702398007
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009
- Hypotrichosis with juvenile macular degeneration syndrome 723364003
- Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome 1217371005
- Inherited optic neuropathy 312942003
- Intellectual disability with strabismus syndrome 773405004
- Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Isolated congenital megalocornea 734026006
- Isolated cryptophthalmos 718691008
- Joubert syndrome with ocular defect 716998009
- Joubert syndrome with oculorenal defect 721862000
- Juvenile cataract, microcornea, renal glucosuria syndrome 722457005
- Karandikar Maria Kamble syndrome 715989002
- Karsch Neugebauer syndrome 722032005
- LAMA5-related multisystemic syndrome 1217370006
- Lenz microphthalmia syndrome 438504004
- Lowe syndrome 79385002
- Lowry MacLean syndrome 721974000
- Macrosomia, microphthalmia, cleft palate syndrome 773282001
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Macular coloboma, cleft palate, hallux valgus syndrome 722463001
- Marinesco-Sjögren syndrome 80734006
- Matthew Wood syndrome 722458000
- Megalocornea with intellectual disability syndrome 733522005
- Megalocornea, spherophakia, secondary glaucoma syndrome 783246000
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome 1172683008
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome 1279889005
- Microcornea with corectopia and macular hypoplasia syndrome 716165003
- Microcornea with glaucoma and absent frontal sinus syndrome 716166002
- Microcornea, myopic chorioretinal atrophy, telecanthus syndrome 774212003
- Microphthalmia with ankyloblepharon and intellectual disability syndrome 717222003
- Microphthalmia with brain and digit anomaly 721878003
- Microphthalmia with brain atrophy syndrome 720010009
- Microphthalmia with linear skin defect syndrome 721879006
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome 724139004
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007
- Moebius syndrome 766987006
- MOMO syndrome 724137002
- Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 723408004
- Multisystemic smooth muscle dysfunction syndrome 782724001
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 237611007
- Nance-Horan syndrome 445257004
- Nasopalpebral lipoma coloboma syndrome 723411003
- Nathalie syndrome 716170005
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Ocular albinism 26399002
- Ocular motor apraxia Cogan type 405809000
- Oculoauricular syndrome Schorderet type 763815000
- Oculocerebrodental syndrome 1255268002
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculocutaneous albinism 63844009
- Oculogastrointestinal muscular dystrophy 722060007
- Oculopharyngeal muscular dystrophy 77097004
- Oculopharyngodistal myopathy 763829004
- Ohdo syndrome, Maat-Kievit-Brunner type 699297004
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009
- Oliver McFarlane syndrome 719944006
- Ophthalmo-acromelic syndrome 703403003
- Oro-facial digital syndrome type 9 718680001
- Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta 63890001
- Osteogenesis imperfecta with blue sclerae AND normal teeth 64404003
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004
- Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001
- Peters plus syndrome 449817000
- Pierson syndrome 723449004
- Pigmented paravenous retinochoroidal atrophy 723450004
- Pilodental dysplasia, refractive errors syndrome 771240009
- Polydactyly myopia syndrome 733087007
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome 724064004
- Preaxial polydactyly, colobomata, intellectual disability syndrome 733088002
- Primary Sjögren's syndrome with organ/system involvement 239913004 removed: 2020-01-31
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome 1172900005
- Pseudoprogeria syndrome 733086003
- Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome 1187043002
- Ptosis and vocal cord paralysis syndrome 771263004
- Ptosis, strabismus, ectopic pupil syndrome 726619004
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome 724016008
- RAB18 deficiency 772225005
- Rambaud Gallian syndrome 724002003
- Rare isolated myopia 773771008
- Renal coloboma syndrome 446449009
- Renal dysplasia and retinal aplasia 236531005
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 764452004
- Retinal degeneration, nanophthalmos, glaucoma syndrome 723503006
- Retinal detachment and occipital encephalocele 703542000
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 783787000
- Revesz syndrome 723512008
- Rieger syndrome 47507006
- Ring dermoid of cornea 723499000
- Saldino-Mainzer dysplasia 254092004
- Secondary Sjögren's syndrome with organ/system involvement 239916007 removed: 2020-01-31
- Seemanova Lesny syndrome 715464002
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome 717266001
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004
- Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008
- Severe myopia, generalized joint laxity, short stature syndrome 1217372003
- Severe oculo-renal-cerebellar syndrome 1208341008
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Siegler Brewer Carey syndrome 721076000
- SOX2 anophthalmia syndrome 698851003
- Spastic ataxia with congenital miosis 763669001
- Spastic paraplegia, glaucoma, intellectual disability syndrome 733455003
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome 1260134001
- Spinal atrophy, ophthalmoplegia, pyramidal syndrome 771238004
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome 723612001
- Spondylo-ocular syndrome 715653007
- Spondyloepiphyseal dysplasia MacDermot type 718763005
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
- STAR syndrome 723581006
- Syndromic microphthalmia type 5 718761007
- Syndromic orbital border hypoplasia 717337001
- Temtamy syndrome 719947004
- Tremor, nystagmus, duodenal ulcer syndrome 782935003
- Triopia 1285322008
- Upper limb defect with eye and ear abnormalities syndrome 716110002
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- Vici syndrome 719824001
- Wellesley Carman French syndrome 715988005
- White forelock with malformations syndrome 763619009
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked cone dysfunction syndrome with myopia 718718009
- X-linked corneal dermoid 715426004
- X-linked retinal dysplasia 715240000
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