| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis |
ORPHA:3000 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype |
OMIM:305700 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstructive azoospermia... |
ORPHA:1646 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:614840 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619528 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoo... |
OMIM:617960 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Azoospermia |
ORPHA:98797 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Limb ataxia, Babinski sign, Lower limb spasticity, Spasticity, Gait ataxia, Ataxia... |
OMIM:614322 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
| Isochromosomy Yq |
|
Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonadal tissue inappropr... |
ORPHA:98798 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight, Chorioretinal degeneration |
OMIM:616311 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... |
OMIM:615542 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia |
OMIM:618110 |
| Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration, Ataxia, Myoclonus |
OMIM:204500 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Morm Syndrome |
|
Retinal dystrophy, Hyperactivity, Retinal atrophy, Truncal obesity, Aggressive behavior |
ORPHA:75858 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
| Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy |
OMIM:603649 |
| Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... |
OMIM:608051 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Spasticity, Ataxia, Flexion contracture, Myoclonus, Retinal ... |
OMIM:256730 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Tip-toe gait, Babinski sign, Lower limb spasticity, Macular degeneration, Impaired ... |
OMIM:604360 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Liberfarb Syndrome |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... |
OMIM:618889 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen |
OMIM:136550 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Limb tremor, Loss of ambulation, Ataxia, Myoclonus, Clumsiness, Retinal degen... |
OMIM:256731 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Gait disturbance, Rod-cone dystrophy, Ataxia, Pigmentary retinopathy |
ORPHA:1178 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Drusen, Reticular pigmentary degeneration |
OMIM:267800 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Retinal degeneration, Ataxia, Small for gestational age, Pigmentary retinopathy |
ORPHA:3363 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:618513 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Macular degeneration, Loss of ambula... |
OMIM:204200 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... |
ORPHA:85128 |
| Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy |
OMIM:275400 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Ataxia |
ORPHA:2246 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Hypertonia, Hyperactivity, Tetraplegia, Failure to thrive, Lethargy |
OMIM:274270 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis |
OMIM:264600 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy |
OMIM:180020 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Obesity, Bone spicule pigmentation of the retina, Rod-cone ... |
OMIM:615990 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary ... |
ORPHA:442835 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Babinski sign, Central retinal vessel vascular tortuosity, Ankle clonus, Progressive spasticity, ... |
ORPHA:506353 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Inability to walk, Lower limb spasticity, Ataxia, Retinal pigment epithelial mottling, Optic disc... |
OMIM:619389 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Agitation, Spasticity, Restlessness, Spastic tetraplegia, Retinal degeneration, Ch... |
OMIM:300438 |
| Bardet-Biedl Syndrome 16 |
|
Obesity, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
| Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... |
ORPHA:75377 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:614858 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... |
ORPHA:97341 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... |
OMIM:619531 |
| Leber Congenital Amaurosis 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... |
OMIM:612712 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Ataxia, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
| Alg6-Cdg |
|
Jaundice, Failure to thrive, Ataxia, Abnormality of the liver, Retinal degeneration, Rod-cone dys... |
ORPHA:79320 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ataxia |
OMIM:551500 |
| Nephronophthisis 15 |
|
Obesity, Elevated circulating hepatic transaminase concentration, Retinal degeneration |
OMIM:614845 |
| Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Pigmentary retinopathy |
OMIM:609016 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Spasticity, Waddling gait, Pigmentary retinopathy |
OMIM:619090 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... |
ORPHA:753 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy |
OMIM:267760 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor |
OMIM:609021 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis |
ORPHA:3055 |
| Bardet-Biedl Syndrome 21 |
|
Retinal thinning, Elevated circulating hepatic transaminase concentration, Hyperautofluorescent m... |
OMIM:617406 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy |
OMIM:601553 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| 46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
| Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism |
OMIM:614279 |
| 47,Xyy Syndrome |
|
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... |
ORPHA:8 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... |
ORPHA:457083 |
| Choroideremia |
|
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... |
OMIM:303100 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy |
OMIM:602271 |
| 46,Xx Sex Reversal 4 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... |
OMIM:617480 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... |
ORPHA:52901 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Babinski sign, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase... |
OMIM:264470 |
| Homocarnosinosis |
|
Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... |
OMIM:618144 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... |
OMIM:611040 |
| Cofs Syndrome |
|
Optic atrophy, Microphthalmia, Hypertonia, Camptodactyly of finger, Abnormality of retinal pigmen... |
ORPHA:1466 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... |
OMIM:613731 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal... |
OMIM:251270 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration, Choreoathetosis, Spastic diplegia |
OMIM:257970 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Unsteady gait, Pigmentary retinopathy |
OMIM:520000 |
| Achromatopsia |
|
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... |
ORPHA:49382 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Abnormality of the liver, Rod-cone dys... |
OMIM:614307 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Elevated circulating alanine aminotransferase concentration, R... |
OMIM:615558 |
| Retinitis Pigmentosa 73 |
|
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... |
OMIM:616544 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Ataxia, Retinal dystrophy |
ORPHA:3156 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... |
ORPHA:858 |
| Retinitis Pigmentosa 33 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:610359 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling |
OMIM:600977 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Pigmentary retinopathy, Poor motor coordination, Myoclonic spasms, ... |
ORPHA:79264 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia, Retinal dysplasia |
OMIM:615771 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa |
OMIM:619044 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Spasticity, Pigmentary retinopathy |
OMIM:617613 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal blood vessel... |
OMIM:616188 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Retinitis Pigmentosa 11 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... |
OMIM:600138 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hyperkinetic movements, Poor coordination, Spastic tetraparesis, Loss of ambulatio... |
ORPHA:391428 |
| Bardet-Biedl Syndrome 2 |
|
Obesity, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Drusen, Choroidal neovascularization, Distal sensory impairm... |
OMIM:608895 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Cone-Rod Dystrophy 24 |
|
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... |
OMIM:620342 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Hyperactivity, Elbow flexion contracture, Spastic tetraparesis, ... |
OMIM:619470 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Spasticity, Tremor, Ataxia, Myoclonus, Abnorma... |
OMIM:615924 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Chorea, Spasticity, Athetosis, Myoclonus, Pi... |
OMIM:617282 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Babinski sign, Yellow/white lesions of the retina, Lower limb spasticity, Abnormality of extrapyr... |
ORPHA:100996 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Spasticity, Retinal atrophy, Rigidity, Neonatal death, Ataxia, Rod-cone dystrophy |
OMIM:610127 |
| Bietti Crystalline Dystrophy |
|
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... |
ORPHA:41751 |
| Mucolipidosis Iv |
|
Optic atrophy, Babinski sign, Retinal degeneration, Spastic tetraplegia |
OMIM:252650 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Bone spicule pigmentation of the retina, Truncal obesity, Polyphagia, Obesity, Attenu... |
OMIM:615986 |
| Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... |
OMIM:617871 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid |
ORPHA:209956 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Microphthalmia, Retinopathy, Macular atrophy, Optic disc pallor |
OMIM:616171 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Sjögren-Larsson Syndrome |
|
Macular degeneration, Abnormal dental enamel morphology, Spasticity, Retinopathy, Abnormality of ... |
ORPHA:816 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Glutathione Synthetase Deficiency |
|
Spastic tetraparesis, Ataxia, Pigmentary retinopathy, Intention tremor |
OMIM:266130 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Tip-toe gait, Inability to walk, Spasticity, Pigmentary retinopathy, Gait disturbance, Frequent f... |
ORPHA:216866 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... |
ORPHA:91348 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Paraplegia, Macular degeneration, Clonus, Spa... |
OMIM:270700 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Hyperactivity, Spasticity, Tremor, Ataxia, Aggressive behavior |
OMIM:300983 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... |
OMIM:619007 |
| Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Ataxia |
ORPHA:480 |
| Narp Syndrome |
|
Babinski sign, Myoclonic spasms, Retinal pigment epithelial mottling, Ataxia, Progressive gait at... |
ORPHA:644 |
| Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Oculomotor apraxia, Cholestasis, Obesity, Retinal degeneration, Splenomegaly, Hepat... |
OMIM:615630 |
| Stargardt Disease |
|
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... |
ORPHA:827 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... |
OMIM:608553 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Fasciculations, Macular degeneration, T... |
ORPHA:284289 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Eye poking, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels... |
OMIM:204000 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... |
OMIM:607921 |
| Retinitis Pigmentosa 19 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:601718 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... |
OMIM:616108 |
| Laurence-Moon Syndrome |
|
Chorioretinal atrophy, Spastic paraplegia, Obesity, Ataxia, Pigmentary retinopathy |
OMIM:245800 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... |
OMIM:609033 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:614500 |
| Retinitis Pigmentosa 57 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... |
OMIM:613582 |
| Leber Congenital Amaurosis 2 |
|
Eye poking, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent fovea... |
OMIM:204100 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... |
OMIM:304020 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... |
OMIM:613750 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Limb ataxia, Impaired proprioception, Difficulty walking, Pancreatitis, Oculomotor apraxia, Lower... |
ORPHA:412057 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy |
ORPHA:75373 |
| Aceruloplasminemia |
|
Limb ataxia, Akinesia, Abnormal pancreas morphology, Torticollis, Macular degeneration, Chorea, T... |
ORPHA:48818 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular coloboma, Geographic atrophy, Abnormal auditory evoked potentials, Attenuation of retinal... |
OMIM:619260 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Pigmentary retinopathy |
OMIM:618234 |
| Sjogren-Larsson Syndrome |
|
Macular dots, Retinal thinning, Macular degeneration, Spasticity, Macular crystals, Enamel hypopl... |
OMIM:270200 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Babinski sign, Truncal ataxia, Spasticity, Ataxia, Flexion contracture, Myoclonus,... |
OMIM:252011 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... |
ORPHA:215 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... |
OMIM:608161 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Retinitis Pigmentosa 54 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613428 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, Inability to walk, Cortical myoclonus, Hyperactivity, Spasticity, Gai... |
ORPHA:168491 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Hyperactivity, Tetrapar... |
ORPHA:363400 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of connective tissue, Poor gross motor coordination, Facial palsy, Loss of ambulation... |
ORPHA:370968 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... |
ORPHA:90790 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Obesity, Poor coord... |
OMIM:615994 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Gait imbalance, Loss of ambulation, Dysphagia, Limb dysmetria, Abnormal pyramidal sign, Pigmentar... |
ORPHA:329336 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... |
ORPHA:91349 |
| Retinitis Pigmentosa 62 |
|
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... |
OMIM:614181 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Joubert Syndrome 6 |
|
Oculomotor apraxia, Bile duct proliferation, Retinal degeneration, Ataxia, Chorioretinal coloboma... |
OMIM:610688 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Tip-toe gait, Abnormality of extrapyramidal motor function, Spasticity, Compulsive... |
ORPHA:157850 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Hemiplegia, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Ataxia, Cone/cone-rod dystrophy |
OMIM:249270 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ... |
ORPHA:96 |
| Aceruloplasminemia |
|
Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwheel rigidi... |
OMIM:604290 |
| Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... |
OMIM:608133 |
| Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Retinitis Pigmentosa 88 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... |
OMIM:618826 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Loss of a... |
ORPHA:3208 |
| Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
| Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
| Obesity |
|
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Spasticity, Rigidity, Ataxia, Retinal degeneration |
OMIM:616211 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microphthalmia, Hepatomegaly |
ORPHA:2432 |
| Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation of retinal bl... |
OMIM:613464 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Inability to walk, Retinal dystrophy, Facial palsy, Flexion contracture |
OMIM:613155 |
| Leigh Syndrome |
|
Optic atrophy, Spasticity, Failure to thrive, Hepatocellular necrosis, Ataxia, Pigmentary retinop... |
OMIM:256000 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... |
ORPHA:891 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Dysphagia, Pigmentary retinopathy |
OMIM:619473 |
| Retinitis Pigmentosa 76 |
|
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... |
OMIM:617123 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit |
OMIM:616428 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Oculomotor apraxia, Retinal dystrophy, Retinal atrophy, Head titubation, Ataxia |
ORPHA:370022 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation |
OMIM:609218 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Hypertonia, Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular ... |
ORPHA:1390 |
| Congenital Rubella Syndrome |
|
Microphthalmia, Jaundice, Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Aplasi... |
ORPHA:290 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Failure to thrive, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormal nerve conduction velocity, Retinal detachment, Hyperactivity, Head... |
OMIM:182290 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Abnormal chorioretinal morphology, Hepatomegaly, Chorioretinal atrophy... |
ORPHA:5 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... |
OMIM:305390 |
| Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormal pyramidal sign, Babinski sign, Spasticity, Abnormality of retinal pigmentation |
ORPHA:397951 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Attention deficit hyperactivity disorder, Failure to thrive, Retinal degeneration, Cholelithiasis |
OMIM:620646 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Eye poking, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorioc... |
OMIM:613835 |
| Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Spasticity, Tremor, Ataxia, Small for gestational age |
OMIM:278780 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Optic atrophy, Babinski sign, Akinesia, T... |
OMIM:234200 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Wa... |
ORPHA:2788 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... |
OMIM:620102 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Joubert Syndrome 28 |
|
Oculomotor apraxia, Ataxia, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
| Retinitis Pigmentosa 96 |
|
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:620228 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal coloboma |
ORPHA:1473 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... |
ORPHA:364055 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Inguinal hernia, Abnormality of retinal pigmentation, Chorioretinal coloboma, U... |
ORPHA:2196 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Failure to thrive, Microphthalmia, Spastic diplegia |
OMIM:600118 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Optic atrophy, Hypertonia, Retinal degeneration, Opisthotonus |
OMIM:616896 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Macular degeneration, Cholestasis, Obesity, Hepatic fibrosis, Rod-cone dystrophy |
OMIM:616629 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Abnormality of retinal pigmentation, Keloids |
ORPHA:3085 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Retinal degeneration, Rod-cone dystrophy, Ataxia |
OMIM:266500 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Hepatomegaly, Spasticity, Neonatal death, Optic disc pallor |
OMIM:613730 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
| Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina |
OMIM:172870 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Aganglionic megacolon, Gait imbalance, Retinal dystrophy... |
OMIM:209900 |
| Abetalipoproteinemia |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Positive Romberg sign, Gait... |
ORPHA:14 |
| Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia, Inferior chorioretinal coloboma |
OMIM:614497 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Spastic gait, Chaddock reflex, Impaired proprioception, Decreased body weight, Dys... |
ORPHA:96180 |
| Mannosidosis, Alpha B, Lysosomal |
|
Limb ataxia, Babinski sign, Hepatomegaly, Inguinal hernia, Spasticity, Decreased circulating anti... |
OMIM:248500 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Microphthalmia, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
| Retinitis Pigmentosa 79 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... |
OMIM:617460 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Anophthalmia |
OMIM:611638 |
| Mccune-Albright Syndrome |
|
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... |
ORPHA:562 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Bone spicule pigmentation of the retina, Truncal titubation, Positive Ro... |
ORPHA:88628 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Failure to thrive, Ataxia, Myoclonus, Mottled pigmentation of photoexposed areas, P... |
OMIM:560000 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Agitation, Microphthalmia, Aggressive behavior, Retinal detachment, Chorioretinal ... |
OMIM:152950 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... |
OMIM:618220 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... |
OMIM:312300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Microphthalmia, Flexion contracture, Abnormally large globe |
OMIM:615249 |
| Canavan Disease |
|
Optic atrophy, Hypertonia, Abnormality of retinal pigmentation, Flexion contracture |
ORPHA:141 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Ataxia |
ORPHA:1173 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... |
ORPHA:91 |
| Joubert Syndrome 22 |
|
Microphthalmia, Oculomotor apraxia, Retinal dysplasia |
OMIM:615665 |
| Newfoundland Rod-Cone Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal dystrophy |
OMIM:607476 |
| Retinitis Pigmentosa 6 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration |
OMIM:312612 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:606068 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Babinski sign, Hypertonia, Difficulty walking, Broad-based gait, Gait disturbance, Speech apraxia... |
ORPHA:79244 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Akinesia, Abnormal cranial nerve morphology, Macular degeneration, Dysdiadochokine... |
ORPHA:247234 |
| Joubert Syndrome 8 |
|
Hypertonia, Hepatomegaly, Oculomotor apraxia, Optic disc pallor, Prolonged neonatal jaundice, Obe... |
OMIM:612291 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Inability to walk, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:2822 |
| Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
| Retinitis Pigmentosa 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:180100 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration, Ataxia |
OMIM:200100 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Myopathy, Mitochondrial, And Ataxia |
|
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... |
OMIM:617675 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Involuntary movements, Dysphagia, Myoclonus, Abnormal pyramidal sign, Dysme... |
OMIM:619780 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Jeune Syndrome |
|
Abnormality of the liver, Abnormality of retinal pigmentation |
ORPHA:474 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor |
OMIM:604393 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Microphthalmia, Elevated circulating hepatic transaminase concentration, Spasticit... |
OMIM:612379 |
| Werner Syndrome |
|
Hypertriglyceridemia, Retinal degeneration, Elevated circulating alanine aminotransferase concent... |
OMIM:277700 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Flexion contracture of toe, Chorea, Finger joint contracture, Intention tremor, A... |
ORPHA:48431 |
| Refsum Disease |
|
Microphthalmia, Retinopathy, Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Ataxia,... |
ORPHA:773 |
| Nephronophthisis 9 |
|
Polydipsia, Retinal degeneration |
OMIM:613824 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
| Arthrogryposis, Distal, Type 5 |
|
Hypertonia, Congenital finger flexion contractures, Abnormality of retinal pigmentation, Distal a... |
OMIM:108145 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
| Trisomy 20P |
|
Cryptorchidism, Hypospadias, Macroorchidism |
ORPHA:261318 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... |
OMIM:617304 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Difficulty walking, Progressive cerebellar ataxia, Abnormality of globe size, Lipoma, Dysdiadocho... |
ORPHA:502423 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Facial palsy, Inability to walk, Pigmentary retinopathy |
OMIM:613156 |
| Retinitis Pigmentosa 2 |
|
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... |
OMIM:312600 |
| Jalili Syndrome |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:217080 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Spasticity, Ataxia, Splenomegaly, Retinal degeneration |
OMIM:272200 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Hepatomegaly, Facial palsy, Unilateral microphthalmos, Failure to thrive, Splenome... |
OMIM:615085 |
| Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy |
OMIM:616502 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... |
ORPHA:261534 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic necrosis, Acu... |
ORPHA:71212 |
| Retinitis Pigmentosa |
|
Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves... |
ORPHA:791 |
| Mucopolysaccharidosis Type 3 |
|
Hyperactivity, Ataxia, Splenomegaly, Dysphagia, Umbilical hernia, Hypersexuality, Aggressive beha... |
ORPHA:581 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:618195 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Optic atrophy, Hepatomegaly, Spastic tetraparesis, Gait disturbance, Fa... |
ORPHA:436271 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Ataxia, Gait disturbance |
ORPHA:578 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Failure to thrive, Microphthalmia, Small for gestational age |
ORPHA:1617 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... |
OMIM:212550 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Thyroid hypoplasia, Goiter, Increased circulating prolactin concentrati... |
ORPHA:90674 |
| Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Gait ataxia... |
ORPHA:248111 |
| Birt-Hogg-Dubé Syndrome |
|
Multiple lipomas, Abnormality of retinal pigmentation |
ORPHA:122 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Cockayne Syndrome |
|
Microphthalmia, Elevated circulating hepatic transaminase concentration, Cachexia, Retinal atroph... |
ORPHA:191 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Scarring, Hypermelanotic macule, Hepatomegaly, Elevated circulating hepatic transa... |
ORPHA:90321 |
| Retinitis Pigmentosa 12 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:600105 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Spasticity, Retinal pigment epithelial mottling, Restlessness |
OMIM:619517 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... |
ORPHA:897 |
| Spinocerebellar Ataxia Type 7 |
|
Babinski sign, Abnormal fundus morphology, Macular degeneration, Dysdiadochokinesis, Cone/cone-ro... |
ORPHA:94147 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
ORPHA:79095 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hyperactivity, Tetraplegia, Failure to thrive, Abnormal pyramidal sign, Aggressive... |
ORPHA:369939 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar... |
OMIM:193220 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Decreased adipose tissue around neck, Babinski sign, Distal sensory impairm... |
OMIM:606721 |
| Optic Atrophy 11 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Hyperactivity... |
OMIM:617302 |
| Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:195 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Increased circulati... |
ORPHA:448237 |
| Retinitis Pigmentosa 10 |
|
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... |
OMIM:180105 |
| Oculocutaneous Albinism Type 4 |
|
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... |
ORPHA:79435 |
| Retinitis Pigmentosa 41 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... |
OMIM:612095 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Spasticity, Decreased body weight, Flexion contracture, A... |
OMIM:614833 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Microphthalmia, Optic disc pallor |
OMIM:300887 |
| Retinitis Pigmentosa 86 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... |
OMIM:618613 |
| Lissencephaly 8 |
|
Optic atrophy, Microphthalmia, Appendicular spasticity |
OMIM:617255 |
| Jalili Syndrome |
|
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... |
ORPHA:1873 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Failure to thrive, Elevated... |
OMIM:609015 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty ... |
OMIM:615673 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... |
OMIM:145350 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Hypertonia, Flexion contracture of toe, Knee flexion contracture, Elbow... |
OMIM:610758 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Angioid streaks of the fundus, Retinopathy, Failure to thrive, Retinal degeneration, Macular scar |
OMIM:239000 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated circulating hepatic transaminase concentration, Oculomotor apraxia, Chorea, Action tremo... |
ORPHA:404454 |
| Pierpont Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Microphthalmia, Small for gestational age |
ORPHA:487825 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Spasticity, Pigmentary retinopathy |
OMIM:619059 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Oculomotor apraxia, Ataxia, Pigmentary retinopathy |
OMIM:608629 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Macular degeneration, Freckling, Melanocytic nevus |
ORPHA:1573 |
| Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Microphthalmia |
OMIM:613153 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Babinski sign, Chronic hepatic failure, Cholestasis, Frequent falls, Failure to thr... |
ORPHA:746 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:615973 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... |
ORPHA:167 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Trichothiodystrophy |
|
Numerous pigmented freckles, Bilateral microphthalmos, Hypertonia, Panhypogammaglobulinemia, Macu... |
ORPHA:33364 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Optic atrophy, Hepatomegaly, Truncal ataxia, Failure to thrive, Ataxia,... |
OMIM:220110 |
| Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
| Retinitis Pigmentosa 56 |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:613581 |
| Cataract 11, Multiple Types |
|
Chorea, Microphthalmia, Hypertonia |
OMIM:610623 |
| Retinitis Punctata Albescens |
|
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... |
ORPHA:52427 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Microphakia |
ORPHA:171844 |
| Pierpont Syndrome |
|
Failure to thrive, Microphthalmia, Decreased body weight, Hypertonia |
OMIM:602342 |
| Retinitis Pigmentosa 58 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613617 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Spastic tetraparesis, Choroidal neovascularization |
ORPHA:404451 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Hepatomegaly, Pigmentary retinopathy |
OMIM:253250 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Spasticity, Abnormality of retinal pigmentation, Abnor... |
ORPHA:2715 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminot... |
OMIM:618805 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... |
OMIM:615113 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Babinski sign, Broad-based gait, Impaired distal proprioception, Positive Romberg sign, Impaired ... |
OMIM:607459 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Macular coloboma, Jaundice, Abnormality of macular pigmentation, Poor fine motor c... |
ORPHA:79282 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Inguinal hernia |
ORPHA:166035 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormal temper tantrums, Hepatomegaly, Decreased nerve conduction velocity, Ingui... |
ORPHA:580 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Camptodactyly, Fa... |
OMIM:214110 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... |
OMIM:604116 |
| Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:300029 |
| Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Abnormality of retinal pigmentation |
ORPHA:2521 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Hyperactivity, Spasticity, Progressive spasticity, Spastic tetraparesis, Abnormal ... |
ORPHA:35069 |
| Cone-Rod Dystrophy 8 |
|
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... |
OMIM:605549 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... |
OMIM:618697 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration, Hepatomegaly, Inguinal hernia |
OMIM:252600 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Poor fine motor coordination |
ORPHA:542306 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Incoordination, Poor fine motor coordination, Rod-cone dystrophy, Patchy atrophy of the retinal p... |
ORPHA:436245 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Progressive spasticity |
ORPHA:2528 |
| Vici Syndrome |
|
Optic atrophy, Hypopigmentation of the skin, Decreased circulating IgG level, Abnormality of reti... |
ORPHA:1493 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased body mass index, Elevated circulating hepatic transaminase concen... |
ORPHA:247585 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... |
OMIM:617547 |
| Nephronophthisis 11 |
|
Polydipsia, Hepatic fibrosis, Retinal degeneration |
OMIM:613550 |
| Retinitis Pigmentosa 46 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy |
OMIM:612572 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminas... |
ORPHA:90324 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Late-Onset Retinal Degeneration |
|
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... |
ORPHA:67042 |
| Cone-Rod Dystrophy 2 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... |
OMIM:120970 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Babinski sign, Microphthalmia, Inability to walk, Flexion contracture, Spastic tet... |
OMIM:615663 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp... |
ORPHA:79432 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... |
ORPHA:79434 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Clonus, Abnormal pyram... |
ORPHA:370959 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Neurocutaneous Melanocytosis |
|
Hemiparesis, Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Gene... |
ORPHA:2481 |
| Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Hepatosplenomegaly, Splenomegaly, Flexion contracture, Umbilical h... |
OMIM:607014 |
| Farber Disease |
|
Elevated circulating hepatic transaminase concentration, Macular degeneration, Intrahepatic chole... |
ORPHA:333 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... |
OMIM:616959 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Cockayne Syndrome A |
|
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Retinal atrophy, Abnormal audit... |
OMIM:216400 |
| Developmental And Epileptic Encephalopathy 1 |
|
Hypertonia, Microphthalmia, Erratic myoclonus, Spastic tetraparesis, Dysphagia, Abnormal pyramida... |
OMIM:308350 |
| Retinitis Pigmentosa 23 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... |
OMIM:300424 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Elevated circulating hepatic transaminase concentration, Pigmentary retinopathy |
OMIM:268020 |
| Bardet-Biedl Syndrome 6 |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:605231 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Fasciculations, Congenital finger flexion contractures, Flexion contracture of finger, Abnormal m... |
ORPHA:466768 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Microphthalmia, Chorioretinal coloboma, Dysphagia, Attention deficit hyperactivity... |
ORPHA:494344 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone... |
OMIM:608940 |
| Temtamy Syndrome |
|
Self-mutilation, Microphthalmia, Hypertonia, Chorioretinal coloboma |
OMIM:218340 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Retinal pigment epithelial mottling |
OMIM:614105 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Tremor, Ataxia, Dysphagia, Pigmentary retinopathy |
OMIM:222300 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Hypertonia, Abnormality of retinal pigmentation |
ORPHA:2518 |
| Leber Congenital Amaurosis 15 |
|
Eye poking, Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retin... |
OMIM:613843 |
| Retinitis Pigmentosa 60 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:613983 |
| Cone-Rod Dystrophy 10 |
|
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... |
OMIM:610283 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... |
OMIM:618173 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... |
ORPHA:284454 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Ataxia, Freckling, Pigmentary... |
OMIM:610651 |
| Micro Syndrome |
|
Optic atrophy, Microphthalmia, Spasticity, Retinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2510 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia |
ORPHA:163649 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Hypertonia, Hepatomegaly, Chorea, Spasticity, Gait ataxia, Failure to thrive, Atax... |
ORPHA:255210 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Microphthalmia, Inability to walk, Lower limb spasticity, Flexion contracture, Ank... |
OMIM:614222 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Pi... |
ORPHA:1359 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Microphthalmia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retina... |
ORPHA:85167 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Papilledema, Abnormality of retinal pigmentation, Hepatosplenomega... |
OMIM:309900 |
| Retinitis Pigmentosa 43 |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:613810 |
| Trisomy 13 |
|
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal retinal vascular morphology, Aplasia/Hypopl... |
ORPHA:3378 |
| Aicardi Syndrome |
|
Optic atrophy, Microphthalmia, Hypertonia, Retinal detachment, Spasticity, Abnormality of skin pi... |
ORPHA:50 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Difficulty walking, Inability to walk, Gait disturbance, Retinal coloboma |
OMIM:618571 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Microphthalmia, Limb hypertonia |
OMIM:614219 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Abnormality of pe... |
ORPHA:585 |
| Norrie Disease |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Retinal fold, Hypoplasia of... |
OMIM:310600 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Anophtha... |
ORPHA:899 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Micro... |
OMIM:619418 |
| Cohen Syndrome |
|
Optic atrophy, Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, Bull's e... |
OMIM:216550 |
| Kapur-Toriello Syndrome |
|
Failure to thrive, Microphthalmia, Retinal coloboma |
ORPHA:2328 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Werner Syndrome |
|
Lipoatrophy, Premature graying of hair, White forelock, Slender build, Abnormality of retinal pig... |
ORPHA:902 |
| Moebius Syndrome |
|
Microphthalmia, Dysdiadochokinesis, Facial diplegia, Camptodactyly, Gait disturbance, Dysphagia, ... |
OMIM:157900 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Microphthalmia, Neonatal death, Anophthalmia |
OMIM:615524 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, At... |
OMIM:614866 |
| Retinitis Pigmentosa 25 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... |
OMIM:602772 |
| Angelman Syndrome |
|
Optic atrophy, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Hypo... |
ORPHA:72 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation |
ORPHA:1496 |
| Lowry-Wood Syndrome |
|
Elbow flexion contracture, Small for gestational age, Pigmentary retinopathy |
OMIM:226960 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Retinal degeneration, Aggressive behavior, Gait ataxia |
OMIM:618479 |
| Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Microphthalmia, Chorioretinal coloboma |
OMIM:243310 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Pigmentary retinopathy |
OMIM:600462 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture,... |
OMIM:214150 |
| Joubert Syndrome 2 |
|
Microphthalmia, Retinal dystrophy, Oculomotor apraxia, Failure to thrive, Ataxia, Chorioretinal c... |
OMIM:608091 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Agitation, Bilateral microphthalmos, Hyperactivity, Incoordination, Camptodactyly, Umbilical hern... |
ORPHA:369891 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Spastic gait, Spastic tetraparesis, Ataxia, Inability to walk |
OMIM:616486 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Microphthalmia, Hypertonia, Panniculitis, Retinal dysplasia, Retinal dystrophy, Re... |
ORPHA:2526 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Hypertonia, Inguinal hernia, Joint contracture of the 5th finger, Cerebral palsy,... |
OMIM:618914 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Hyperactivity, Tremor, Unsteady gait, Ataxia, Abnormal pyramidal sign, Attention ... |
ORPHA:1942 |
| Otodental Syndrome |
|
Abnormal dental enamel morphology, Microphthalmia, Lens coloboma, Retinal coloboma |
ORPHA:2791 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... |
ORPHA:99330 |
| Cockayne Syndrome B |
|
Optic atrophy, Microphthalmia, Severe failure to thrive, Hepatomegaly, Decreased nerve conduction... |
OMIM:133540 |
| Pearson Syndrome |
|
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperpigmenta... |
ORPHA:699 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion |
OMIM:250410 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Intrahepatic biliary dysgenesis, Optic disc pallor, Frequent falls, Failure to thri... |
OMIM:214100 |
| Microphthalmia/Coloboma 9 |
|
Retinal detachment, Macular coloboma, Microphthalmia |
OMIM:615145 |
| Incontinentia Pigmenti |
|
Abnormal chorioretinal morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Micro... |
ORPHA:464 |
| Cohen Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of skin pigmentation, Obesity, Abnormality of retinal ... |
ORPHA:193 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Neonatal death, Aganglionic megacolon |
ORPHA:85284 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... |
OMIM:600132 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Bradykinesia, Babinski sign, Hypertonia, Hyperactivity, Chorea, Dysdiadochokinesis... |
OMIM:610217 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Premature graying of hair, Generalized lipodystrophy, Decrease... |
ORPHA:79474 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Bile duct proliferation, Polycystic liver disease, Retinal degeneration, Hepatic fibros... |
OMIM:208500 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, R... |
ORPHA:394 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Annular pancreas, Severe failure to thrive, Inability to walk, Cholelithiasis, Ret... |
ORPHA:97297 |
| Joubert Syndrome 1 |
|
Retinal dystrophy, Retinal dysplasia, Hyperactivity, Oculomotor apraxia, Hemifacial spasm, Ataxia... |
OMIM:213300 |
| Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Retinal detachment, Vitreoretinopathy, Lattice retinal degenerati... |
ORPHA:485 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration, Contractures of the large joints |
ORPHA:96179 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of... |
ORPHA:83461 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Spasticity, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy |
ORPHA:231736 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... |
OMIM:203800 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Obesity, Microphthalmia, Inguinal hernia |
ORPHA:3191 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Epididymal c... |
OMIM:193300 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Retinitis Pigmentosa 49 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613756 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
| Coffin-Lowry Syndrome |
|
Optic atrophy, Hypertonia, Progressive spasticity, Gait disturbance, Abnormality of retinal pigme... |
ORPHA:192 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
| Papillorenal Syndrome |
|
Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma... |
OMIM:120330 |
| Prolidase Deficiency |
|
White forelock, Hepatomegaly, Splenomegaly, Abnormality of retinal pigmentation |
ORPHA:742 |
| Retinitis Pigmentosa 72 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... |
OMIM:616469 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Hepatomegaly, Lower limb spasticity, Hyperactivity, Cerebral palsy, Ste... |
ORPHA:163681 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret... |
OMIM:236670 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Joubert Syndrome 14 |
|
Optic atrophy, Microphthalmia, Ataxia, Morning glory anomaly |
OMIM:614424 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ... |
ORPHA:139396 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Exaggerated startle respons... |
OMIM:253800 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Microphthalmia, Spasticity, Hypopigmentation of the skin, Camptodactyly, Hypoplasi... |
OMIM:251300 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Micro... |
ORPHA:2712 |
| Usher Syndrome |
|
Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Ataxia |
ORPHA:886 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight, Cafe-au-lait spot, Bone marrow hyp... |
OMIM:609053 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Anophthalmia |
ORPHA:139471 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anorexia, Cachexia, Generalized hypopigmentation, Multiple cafe-au-lait spots, Abnormality of ret... |
ORPHA:1969 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Wrist flexion contracture, Decreased amplitude of sensory ac... |
OMIM:618733 |
| Biemond Syndrome Type 2 |
|
Obesity, Microphthalmia |
ORPHA:141333 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Babinski sign, Panniculitis, Ankle clonus, Macular degeneration, Decreased circula... |
ORPHA:3132 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:300578 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Irregular hyperpigmentation, Microphthalmia, Inguinal hernia, Retinopathy, Umbilical hernia |
ORPHA:2505 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Chorior... |
OMIM:118450 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Microphthalmia, Hypertonia, Cachexia, Omphalocele, Camptodactyly... |
ORPHA:3380 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Increased axial length of the globe, Macular atrophy, Chorioretinal coloboma, Optic disc coloboma |
OMIM:602499 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
| Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts, Rod-cone d... |
OMIM:616307 |
| Dubowitz Syndrome |
|
Microphthalmia, Inguinal hernia, Hyperactivity, Hypoplasia of the iris, Decreased circulating IgG... |
OMIM:223370 |
| Kearns-Sayre Syndrome |
|
Ataxia, Pigmentary retinopathy |
OMIM:530000 |
| Joubert Syndrome 37 |
|
Obesity, Hepatomegaly, Oculomotor apraxia, Microphthalmia |
OMIM:619185 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Retinal dystrophy, Macular degeneration, Cholestasis, Failure to thriv... |
OMIM:266920 |
| Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:615233 |
| Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Inability to walk, Bone marrow hypocellularity, Decreased circulating IgG level, A... |
ORPHA:505248 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Microphthalmia, Retinal dysplasia, Spasticity, Retinal atrophy, Hypoplasia of the ... |
OMIM:253280 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Chronic active hepatitis, Asplenia, Enamel hypoplasia, Vitiligo, Perifoveal ring ... |
OMIM:240300 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Frontal cutaneous lipoma, Camptodactyly, Pericallosal lipoma, Joint contracture o... |
OMIM:136760 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Hyperechogenic pancreas, Retinal dysplasia, Retinal dystrophy, Hyperacti... |
OMIM:617052 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia, Flexion contracture, Elevated circulating aspartate aminotransf... |
OMIM:613154 |
| Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Joint contracture of the hand, Microphthalmia, Retinal coloboma |
OMIM:244300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hernia |
OMIM:602501 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Pseudoxanthoma Elasticum |
|
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... |
OMIM:264800 |
| Retinitis Pigmentosa 74 |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
OMIM:616562 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Hepatomegaly, Decreased circulating antibody level, Aplasia/Hypoplasia aff... |
ORPHA:175 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Dysdiadochokinesis,... |
ORPHA:1435 |
| Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Retinal detachment, Chorioretinal atrophy, Retinal coloboma, Cone/co... |
OMIM:612109 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Umbilical hernia |
OMIM:612582 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Abnormality of extrapyramidal motor function, Tremor, Failure to thrive, Lethargy, ... |
OMIM:277400 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Microphthalmia, Aganglionic megacolon |
ORPHA:1438 |
| Microphthalmia/Coloboma 12 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... |
OMIM:120200 |
| Warburg Micro Syndrome 2 |
|
Optic atrophy, Microphthalmia, Flexion contracture, Spastic diplegia |
OMIM:614225 |
| Khan-Khan-Katsanis Syndrome |
|
Hypertonia, Corneal scarring, Failure to thrive, Joint contracture, Dysphagia, Buphthalmos, Pigme... |
OMIM:618460 |
| Melas |
|
Optic atrophy, Myoclonus, Gait disturbance, Failure to thrive, Hemiparesis, Ataxia, Vitiligo, Rec... |
ORPHA:550 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Omphalocele |
ORPHA:93267 |
| Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:617023 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Microphthalmia, Hepatomegaly, Congenital aphakia, Failure to thrive, Hemiplegia, C... |
ORPHA:137675 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
| Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Jacobsen Syndrome |
|
Optic atrophy, Annular pancreas, Microphthalmia, Spasticity, Failure to thrive, Chorioretinal col... |
OMIM:147791 |
| Curry-Jones Syndrome |
|
Hypopigmented skin patches, Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
| Incontinentia Pigmenti |
|
Optic atrophy, Scarring, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Spas... |
OMIM:308300 |
| Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Microphthalmia, Ataxia |
OMIM:617883 |
| Hardikar Syndrome |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... |
OMIM:301068 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Monosomy 9Q22.3 |
|
Large for gestational age, Microphthalmia, Hyperactivity, Retinopathy, Umbilical hernia |
ORPHA:77301 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Hypopigmented skin patches, Microphthalmia, Abnormal vitreous hu... |
ORPHA:2556 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Camptodactyly of finger, Chorioretinal coloboma, Optic disc coloboma, Self-injuri... |
ORPHA:568 |
| Persistent Hyperplastic Primary Vitreous |
|
Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Retinal fold, Tractional re... |
ORPHA:91495 |
| Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T... |
OMIM:619649 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Multiple cafe-au-lait spots |
OMIM:614082 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Camptodactyly, Pigmentary retinopathy |
OMIM:614230 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Microphthalmia, Inguinal hernia, Abnormal adipose tissue morphol... |
ORPHA:2092 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Microphthalmia, Failure to thrive, Joint contracture, Flexion contracture of finger,... |
OMIM:601812 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... |
OMIM:614643 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage |
OMIM:177850 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Hepatomegaly, Retinal atrophy, Cranial nerve compression, Failure to thrive, Bone ... |
ORPHA:2785 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Inability to walk, Dysphagia, Appendicular spasticity |
OMIM:618494 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Hyperactivity, Chorioretinal coloboma, Optic disc coloboma, Choreoathetosis, Smal... |
OMIM:234100 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Microphthalmia, Spasticity, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:620422 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia |
OMIM:610125 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Bilateral microphthalmos, Waddling gait, Retinal coloboma |
ORPHA:2839 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Spasticity, Tongue thrusting |
ORPHA:77299 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:268315 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy |
OMIM:605808 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Retinal dystrophy |
OMIM:616538 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Ataxia, Motor stereotypy, Knee flexion contracture, Attention deficit hyperactivi... |
ORPHA:435638 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Joint contracture of the 5th finger, Compulsive behaviors, Gait disturbance, Atte... |
OMIM:620098 |
| Atelis Syndrome 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Attention deficit hyperactivity disorder... |
OMIM:620185 |
| Cone-Rod Dystrophy 6 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... |
OMIM:601777 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:618804 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Small for gestational age |
OMIM:610756 |
| Adams-Oliver Syndrome |
|
Cirrhosis, Microphthalmia, Hypertonia, Portal hypertension, Failure to thrive, Hemiparesis, Conge... |
ORPHA:974 |
| Holoprosencephaly |
|
Optic atrophy, Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Chorea, Spasticity,... |
ORPHA:2162 |
| Seckel Syndrome 2 |
|
Microphthalmia, Small for gestational age, Few cafe-au-lait spots |
OMIM:606744 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Microphthalmia |
OMIM:234050 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Microphthalmia, Hypertonia |
OMIM:616395 |
| Norrie Disease |
|
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol... |
ORPHA:649 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Hyperpigmentation of the skin, Macular atrophy, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ankle flexion contracture, Severe failure to thrive, Bilateral microphthalmos, Hypertonia, Hyperk... |
ORPHA:468631 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Hyperpigmented nevi |
OMIM:607597 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... |
ORPHA:2334 |
| Aicardi Syndrome |
|
Optic atrophy, Microphthalmia, Lipoma, Retinal detachment, Chorioretinal lacunae, Optic disc colo... |
OMIM:304050 |
| Proteus Syndrome |
|
Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, Thymus hyperplasi... |
ORPHA:744 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Gait disturbance, Failure to thrive, Abnormality of skin pigmentation, Attention ... |
ORPHA:65286 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Enamel hypoplasia, Microphthalmia, Scarring alopecia of scalp |
OMIM:618727 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Phth... |
OMIM:221900 |
| Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema, Microphthalmia, Small for gestational age |
OMIM:127000 |
| Cancer-Associated Retinopathy |
|
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... |
ORPHA:71505 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Microphthalmia, Buphthalmos, Inguinal hernia, Abnormal dental enamel mor... |
ORPHA:534 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Microphthalmia, Multiple cafe-au-lait spots |
OMIM:609054 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis... |
ORPHA:636 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancreatic atrophy, ... |
OMIM:137920 |
| Vici Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cutaneous anergy, Failure to thrive, Decr... |
OMIM:242840 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Optic atrophy, Lipoatrophy, Hypertonia, Optic disc hypoplasia, Limb hyperto... |
ORPHA:3455 |
| Stromme Syndrome |
|
Stillbirth, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Retinal vascular tortuosity |
OMIM:243605 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Spasticity, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid vascu... |
OMIM:609049 |
| Momo Syndrome |
|
Bilateral microphthalmos, Large for gestational age, Obesity, Chorioretinal coloboma |
ORPHA:2563 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Decreased circulating IgG level, Absence of subcutaneous fat, Flexion contracture... |
OMIM:601675 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Myoclonus, Ocular albinism |
ORPHA:1352 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal auto... |
ORPHA:2388 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Cat Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Biliary atresia, Umbilical hernia |
OMIM:115470 |
| Cystinosis, Nephropathic |
|
Polydipsia, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Fa... |
OMIM:219800 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Hyperactivity, Camptodactyly, Cafe-au-lait spot, Small for gestational age, Aggre... |
OMIM:619148 |
| Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Failure to thrive, Microphthalmia, Bone marrow hypocellularity |
OMIM:301108 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Iris transillumination defect, Microphthalmia, Decreased body weight, Generalized hypopigmentation |
OMIM:617306 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma |
OMIM:607323 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Choroidal neovascularization, Increased circulating antibody level, Increased circulati... |
ORPHA:91500 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Microphthalmia, Compulsive behaviors |
ORPHA:404440 |
| Steinfeld Syndrome |
|
Absent gallbladder, Microphthalmia, Retinal coloboma |
OMIM:184705 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Microphthalmia, Cyanosis, Opisthotonus |
ORPHA:335 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Inguinal hernia, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality... |
ORPHA:217085 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Difficulty walking, Inability to walk, Inguinal hernia, Cholelithiasis, Spasticit... |
ORPHA:464738 |
| Meckel Syndrome |
|
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia,... |
ORPHA:564 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Inguinal hernia, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality... |
ORPHA:217093 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia |
OMIM:206920 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia |
ORPHA:2547 |
| Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
| Phace Association |
|
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Increased retinal vascularity, Horner synd... |
OMIM:606519 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Pigmentary retinopathy |
ORPHA:411629 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morph... |
ORPHA:508498 |
| Alport Syndrome |
|
Macular degeneration, Retinal flecks, Dysphagia |
ORPHA:63 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Lipomas of eyelids |
OMIM:167730 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Inguinal hernia, Anophthalmia, Femoral hernia, Abnormal optic nerve morphology |
ORPHA:3412 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| 17Q12 Microduplication Syndrome |
|
Self-injurious behavior, Microphthalmia |
ORPHA:261272 |
| 2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Microphthalmia, Optic disc coloboma |
ORPHA:251014 |
| Garg-Mishra Progeroid Syndrome |
|
Cafe-au-lait spot, Microvesicular hepatic steatosis, Microphthalmia |
OMIM:620601 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Asplenia, Failure to thrive, Hypoplastic spleen |
OMIM:602361 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Retinal detachment, Contracture of the proximal interphalangeal joi... |
OMIM:300166 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Microphthalmia, Aganglionic megacolon, Cholelithiasis,... |
ORPHA:567 |
| Nijmegen Breakage Syndrome |
|
Dysgammaglobulinemia, Hyperactivity, Cafe-au-lait spot, Progressive vitiligo, Retinal pigment epi... |
OMIM:251260 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Microphthalmia, Pigmentary retinopathy |
OMIM:309801 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Annular pancreas, Microphthalmia, Spastic tetraparesis, Multiple cafe-au-lait spot... |
OMIM:616975 |
| Marden-Walker Syndrome |
|
Microphthalmia, Inguinal hernia, Camptodactyly, Congenital contracture, Joint contracture of the ... |
OMIM:248700 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Papillary cyst... |
ORPHA:892 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Retinoblastoma |
|
Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir... |
ORPHA:790 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Camptodactyly, Joint contracture of the hand |
OMIM:611961 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Microphthalmia, Chorioretinal coloboma |
ORPHA:268249 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Microphthalmia, Limb hypertonia |
OMIM:616920 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal... |
OMIM:620005 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Clonus, Inguinal hernia, Spastic diplegia |
OMIM:212720 |
| Ramon Syndrome |
|
Decreased body weight, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
| Encephalocraniocutaneous Lipomatosis |
|
Microphthalmia, Linear hyperpigmentation, Lipoma, Hypoplasia of the iris, Multiple central nervou... |
OMIM:613001 |
| Alström Syndrome |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Incoordination, Hy... |
ORPHA:64 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Spasticity, Camptodactyly, Failure to thrive, Hiatus hernia |
OMIM:617729 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Microphthalmia, Bile duct proliferation |
OMIM:603194 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia, Multiple lipomas, Lipomas of eyelids |
ORPHA:2399 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Enamel hypoplasia, Abnormality of retinal pigmentation, Inguinal hernia |
OMIM:272460 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Spasticity, Inguinal hernia |
OMIM:616449 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Brushfield spots |
ORPHA:1791 |
| Mend Syndrome |
|
Microphthalmia, Limb hypertonia, Hyperactivity, Abnormal auditory evoked potentials, Failure to t... |
ORPHA:401973 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Spastic tetraplegia, S... |
OMIM:206900 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Microphthalmia, Elbow flexion contracture, Omphalocele, Camptoda... |
ORPHA:1692 |
| 1Q21.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Failure to thrive, Microphthalmia, Inguinal hernia |
ORPHA:250989 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia With Limb Anomalies |
|
Optic atrophy, Microphthalmia, True anophthalmia, Camptodactyly of 2nd-5th fingers, Failure to th... |
ORPHA:1106 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Inguinal hernia, Decreased body weight, Cafe-au-lait spot, Hiatus hernia |
OMIM:300895 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
| Stickler Syndrome |
|
Abnormal vitreous humor morphology, Retinal detachment, Cachexia, Abnormal dental enamel morpholo... |
ORPHA:828 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc ... |
ORPHA:959 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Microphthalmia, Cafe-au-lait spot, Bone marrow hypocellularity, Abnormality of ... |
OMIM:227646 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Microphthalmia |
OMIM:201180 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia |
OMIM:612530 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Microphthalmia, Aniridia |
ORPHA:251038 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Failure to thrive, Bone marrow ... |
OMIM:603467 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hyperpigmentation of the skin, Cafe-au-lait spot, Bone marrow hypocellularity, Fl... |
OMIM:227645 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Microphthalmia |
OMIM:257850 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Phthisis bulbi |
OMIM:259770 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia |
ORPHA:1915 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Microphthalmia, Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Flexion contracture, Scarring alopecia of scalp |
ORPHA:35173 |
| Phace Syndrome |
|
Retinal vascular malformation, Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Hemi... |
ORPHA:42775 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Charge Syndrome |
|
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal cranial nerve morphology, Facial palsy, Com... |
ORPHA:138 |
| Fryns Syndrome |
|
Large for gestational age, Stillbirth, Aganglionic megacolon, Microphthalmia, Aplasia of the left... |
OMIM:229850 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Aggressive behavior, Corneal scarring, Failure to thrive, Enamel hypoplasia, Camp... |
OMIM:309000 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Microphthalmia |
OMIM:302960 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Fanconi Anemia |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Microphthalmia, Aganglionic megacolon, M... |
ORPHA:84 |
| Degcags Syndrome |
|
Premature graying of hair, Microphthalmia, Hepatomegaly, Hypopigmentation of hair, Oral-pharyngea... |
OMIM:619488 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Inguinal hernia, Retinoblastoma, Chorioretinal coloboma, Umbilical hernia |
OMIM:613884 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Cyanosis, Microphthalmia |
OMIM:619879 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia, Aganglionic megacolon, Omphalocele |
ORPHA:2059 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Choreoathetosis, Ataxia, Spasticity |
OMIM:278730 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Babinski sign, Microphthalmia, Tetraparesis, Spasticity, Retinal hemorrhage, Hypoplasia of the ir... |
OMIM:175780 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Hepatomegaly, Anophthalmia, Failure to thrive, Abnormality of the spleen, Hiatus ... |
ORPHA:2538 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Joint contracture of the 5th finger, Spasticity, Paraparesis, Enamel hypoplasia, ... |
OMIM:164200 |
| 8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Inguinal hernia, Hyperactivity, Optic nerve hypoplasia, Retinal colobom... |
ORPHA:508488 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Decreased circulating cortisol level, Neonatal death |
OMIM:146510 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism |
OMIM:136140 |
| Fanconi Anemia, Complementation Group N |
|
Cafe-au-lait spot, Microphthalmia, Small for gestational age, Hyperpigmentation of the skin |
OMIM:610832 |
| Neuroocular Syndrome |
|
Microphthalmia, Stellate iris, Remnants of the hyaloid vascular system, Umbilical hernia, Hypopla... |
OMIM:619539 |
| 8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Iris hypopigmentation, Microphthalmia |
ORPHA:284160 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Fanconi Anemia, Complementation Group E |
|
Cafe-au-lait spot, Microphthalmia, Small for gestational age, Hyperpigmentation of the skin |
OMIM:600901 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Fanconi Anemia, Complementation Group A |
|
Cafe-au-lait spot, Abnormality of skin pigmentation, Microphthalmia, Small for gestational age |
OMIM:227650 |
| Focal Dermal Hypoplasia |
|
Optic atrophy, Congenital diaphragmatic hernia, Microphthalmia, Aniridia, Inguinal hernia, Linear... |
OMIM:305600 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cafe-au-lait spot, Failure to thrive, Microphthalmia |
ORPHA:364577 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Microphthalmia, Hyperpigmented streaks |
OMIM:300952 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Annular pancreas, Microphthalmia, Small for gestational age |
OMIM:268400 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Prolonged neonatal jaundice, Microphthalmia, Facial palsy, Optic disc coloboma |
OMIM:620186 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Frontorhiny |
|
Pericallosal lipoma, Camptodactyly of finger, Microphthalmia |
ORPHA:391474 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:1806 |
| Myhre Syndrome |
|
Microphthalmia, Camptodactyly, Obesity, Ataxia, Small for gestational age |
OMIM:139210 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos |
ORPHA:93325 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism |
ORPHA:2044 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Multilobulated spleen, Bilateral microphthalmos, Inguinal hernia... |
OMIM:601186 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Aganglionic megacolon, Inability to walk, Broad-based gait, Impaired pain sensati... |
ORPHA:261537 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Microphthalmia |
OMIM:617244 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Neonatal death |
OMIM:251230 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Microphthalmia, Omphalocele |
OMIM:616300 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon, Inability to walk, Broad-based gait, Impaired pain sensati... |
ORPHA:2152 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Omphalocele |
OMIM:264480 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:141099 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Congenital contracture |
OMIM:613150 |
| Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Failure to thrive, Microphthalmia, Blepharospasm |
ORPHA:861 |
| Cousin Syndrome |
|
Microphthalmia, Wrist flexion contracture, Camptodactyly, Joint contracture of the hand |
OMIM:260660 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Fanconi Anemia, Complementation Group L |
|
Cafe-au-lait spot, Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Microph... |
OMIM:614083 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Microphthalmia, Aganglionic megacolon, Inability to walk, Broad-based gait, Impair... |
ORPHA:261552 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Charge Syndrome |
|
Microphthalmia, Anophthalmia, Facial palsy, Unilateral microphthalmos, Omphalocele, Retinal colob... |
OMIM:214800 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Microphthalmia, Hypertonia |
ORPHA:1236 |
| Fontaine Progeroid Syndrome |
|
Microphthalmia, Reduced subcutaneous adipose tissue, Failure to thrive, Neonatal death, Umbilical... |
OMIM:612289 |
| Microphthalmia, Syndromic 6 |
|
Failure to thrive, Microphthalmia, Retinal dystrophy, Anophthalmia |
OMIM:607932 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Meckel Syndrome, Type 1 |
|
Microphthalmia, Accessory spleen, Asplenia, Bile duct proliferation, Omphalocele, Camptodactyly o... |
OMIM:249000 |
| Branchiooculofacial Syndrome |
|
Premature graying of hair, Microphthalmia, Anophthalmia, Elbow flexion contracture, Facial palsy,... |
OMIM:113620 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Microphthalmia, Inguinal hernia, Hyperactivity, Poor motor coord... |
OMIM:613406 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Microphthalmia, Neonatal death |
OMIM:617925 |
| Monosomy 13Q14 |
|
Microphthalmia, Retinoblastoma |
ORPHA:1587 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Tremor, Camptodactyly, Failure to thrive, Motor stereotypy, Self-injurious behavi... |
OMIM:612474 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Omphalocele |
OMIM:248450 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Camptodactyly |
OMIM:272950 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Inguinal hernia, Omphalocele, Flexion contracture, Arthrogryposis multiplex conge... |
OMIM:263650 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia, Microphthalmia, Hernia, Hypertonia |
ORPHA:261112 |
| Lymphedema-Distichiasis Syndrome |
|
Cellulitis, Microphthalmia |
OMIM:153400 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Torticollis, Inguinal hernia, Knee flexion contracture |
OMIM:609945 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus |
ORPHA:2108 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia, Multiple cafe-au-lait spots |
ORPHA:1052 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cafe-au-lait spot, Failure to thrive, Microphthalmia |
OMIM:608670 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Aganglionic megacolon, Aggressive behavior, Anophthalmia, Camptodactyly, Choriore... |
OMIM:309800 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Microphthalmia, Omphalocele |
ORPHA:3186 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Linear Nevus Sebaceus Syndrome |
|
Irregular hyperpigmentation, Microphthalmia, Melanocytic nevus |
ORPHA:2612 |
| Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
| Townes-Brocks Syndrome |
|
Failure to thrive, Microphthalmia, Chorioretinal coloboma |
ORPHA:857 |
| Roberts Syndrome |
|
Microphthalmia, Progressive flexion contractures, Wrist flexion contracture, Knee flexion contrac... |
ORPHA:3103 |
| Holoprosencephaly 7 |
|
Bilateral microphthalmos, Microphthalmia, Omphalocele |
OMIM:610828 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Neu-Laxova Syndrome 1 |
|
Stillbirth, Microphthalmia, Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin... |
OMIM:256520 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Holoprosencephaly 2 |
|
Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Microphthalmia, Severe failure to thrive |
ORPHA:3472 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon, Abnormal enteric ganglion morphology, Chorioretinal coloboma |
OMIM:235730 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Spasticity, Camptodactyly, Joint contracture of the hand |
OMIM:309500 |
| Pallister-Hall Syndrome |
|
Large for gestational age, Microphthalmia, Inguinal hernia, Distal arthrogryposis, Umbilical hern... |
ORPHA:672 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
OMIM:603457 |
| Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Microphthalmia |
OMIM:229400 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Ankle flexion contracture, Microphthalmia, Accessory spleen, Elbow flexion contractur... |
OMIM:268300 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Microphthalmia, Asplenia |
OMIM:273395 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Omphalocele, Microphthalmia, Accessory spleen |
OMIM:236680 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Microphthalmia |
ORPHA:306542 |
| Fraser Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia, Umbilical hernia |
ORPHA:2052 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
| Autosomal Recessive Primary Microcephaly |
|
|
ORPHA:2512 |
