| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype |
OMIM:305700 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Retinal de... |
OMIM:614322 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration, Decreased body weight |
OMIM:616311 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus, Retinal degeneration |
OMIM:204500 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Macular degeneration, Myoclonus, Spasticity, Retinal ... |
OMIM:256730 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... |
OMIM:604360 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance |
ORPHA:1178 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Optic atrophy, Macular degeneration, Abnormality of extrapyramidal motor function, ... |
OMIM:204200 |
| Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Re... |
OMIM:256731 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Pigmentary retinopathy, Ataxia, Retinal degeneration |
ORPHA:3363 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Tetraplegia, Hypertonia, Microphthalmia, Failure to thrive, Lethargy |
OMIM:274270 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration |
OMIM:275400 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Hyperreflexia |
|
Ankle clonus, Abnormality of retinal pigmentation |
OMIM:145290 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Lower limb spasticity, Ataxia, Inability to walk, Retinal pigment epithelial m... |
OMIM:619389 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, C... |
ORPHA:506353 |
| Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615993 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| 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 |
| 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 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
| Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Alg6-Cdg |
|
Ataxia, Rod-cone dystrophy, Jaundice, Abnormality of the liver, Failure to thrive, Retinal degene... |
ORPHA:79320 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hepatomegaly |
OMIM:609016 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Agitation... |
OMIM:300438 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity, Retinal degeneration |
OMIM:614845 |
| 46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Pigmentary retinopathy, Spasticity, Babinski sign |
OMIM:619090 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Babinski sign, Optic atrophy, Pigmentary retinopathy... |
OMIM:264470 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Ataxia, Elevated circulating aspartate aminotransferase concentration, Elev... |
OMIM:615558 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia |
OMIM:236130 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Ataxia |
OMIM:551500 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... |
OMIM:617406 |
| Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Optic atrophy, Hypertonia, Micropht... |
ORPHA:1466 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Abnormality of the liver, Spasticity, Rod-co... |
OMIM:614307 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia, Retinal degeneration |
OMIM:257970 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Unsteady gait, Retinal degeneration |
OMIM:520000 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia, Congenital hepatic fibrosis |
ORPHA:3156 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Failure to thri... |
ORPHA:858 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Spasticity |
OMIM:617613 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia, Retinal dysplasia |
OMIM:615771 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinatio... |
ORPHA:79264 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... |
OMIM:615924 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Elbow flexion... |
OMIM:619470 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Limb joint contracture, Involuntary movements, Rigidity, Chorea, Babin... |
OMIM:617282 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand trem... |
ORPHA:100996 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia,... |
ORPHA:391428 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
| Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Decreased nerve conduction velocity, Drusen, Distal sensory impairm... |
OMIM:608895 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy |
OMIM:616171 |
| Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615981 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Ataxia, Rigidity, Neonatal death, Spasticity, Rod-cone dystrophy |
OMIM:610127 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Ataxia, Spastic tetraparesis, Intention tremor |
OMIM:266130 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Polydipsia, Rod-cone dystrophy... |
OMIM:615986 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
| Mucolipidosis Iv |
|
Babinski sign, Optic atrophy, Spastic tetraplegia, Retinal degeneration |
OMIM:252650 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Spasticity, Weight loss, Opisthotonus, Pigmentary retinopat... |
ORPHA:216866 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614962 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ba... |
ORPHA:644 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Macular deg... |
OMIM:270700 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Oculomotor apraxia, Hepatic f... |
OMIM:615630 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary mov... |
ORPHA:48818 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Laurence-Moon Syndrome |
|
Ataxia, Spastic paraplegia, Chorioretinal atrophy, Obesity, Pigmentary retinopathy |
OMIM:245800 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Attenuation ... |
OMIM:204000 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Decreased sensory nerve conduc... |
OMIM:609033 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Babinski sign, Pigmentary retinopathy, Myoclonus, Tru... |
OMIM:252011 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R... |
ORPHA:363400 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Retinal atrophy, Postural tremor, Rigidity, Oculomotor apr... |
ORPHA:412057 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Facial palsy, Poor gross motor coordination, Pigmentary retinopathy,... |
ORPHA:370968 |
| Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Spasticity, Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Spas... |
OMIM:270200 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... |
ORPHA:90790 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal pyramidal sign, Pigmentary retinopathy, Gait imbalance, Dysphagia, Loss of ambulation, L... |
ORPHA:329336 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Obesity... |
ORPHA:791 |
| Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy... |
OMIM:619260 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Hemiplegia, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... |
ORPHA:168491 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... |
OMIM:615994 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, I... |
OMIM:182290 |
| Joubert Syndrome 6 |
|
Ataxia, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Oculomotor apraxia, Ab... |
OMIM:610688 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Parkinsonism, Impulsivity, Rigidity, Optic atrophy, Slurred speech, Chore... |
ORPHA:157850 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Knee flexion contracture, Pigmentary re... |
ORPHA:3208 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atro... |
ORPHA:228346 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Ataxia, Retinal degeneration |
OMIM:249270 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia, Dysphagia |
OMIM:619473 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
| Leigh Syndrome |
|
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Spasticity, Failure to th... |
OMIM:256000 |
| Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Spastic diplegia, Apla... |
ORPHA:290 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypertonia, Heterochro... |
ORPHA:1390 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Abnormal dental enamel morphology |
ORPHA:3019 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Inability to walk, Flexion contracture, Microphthalmia |
OMIM:613155 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... |
OMIM:610628 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... |
ORPHA:5 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Microphthalmia, Spasticity |
OMIM:278780 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Spasticity, Babinski sign, Abnormal pyramidal sign |
ORPHA:397951 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Oculomotor apraxia |
ORPHA:370022 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exu... |
ORPHA:2788 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
| Joubert Syndrome 28 |
|
Oculomotor apraxia, Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Retinal degeneration, Opisthotonus |
OMIM:616896 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Failure to thrive, Optic atrophy, Spastic diplegia |
OMIM:600118 |
| Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Chorioretinal coloboma, U... |
ORPHA:2196 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Abnormality of retinal pigmentation, Obesity |
ORPHA:3085 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Neonatal death, Microphthalmia, Spasticity |
OMIM:613730 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Decreased body weight, Ataxia, Chaddock reflex, Optic atrophy, Impa... |
ORPHA:96180 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity |
ORPHA:363741 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... |
ORPHA:562 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Hepatic fibrosis, Rod-cone dystrophy |
OMIM:616629 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H... |
ORPHA:14 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Inferior chorioretinal coloboma |
OMIM:614497 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:611638 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... |
OMIM:152950 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hemiplegia/hemiparesis |
ORPHA:65 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Ataxia, Truncal titubatio... |
ORPHA:88628 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Rod-cone dystrophy, Ataxia, Retinal degeneration |
OMIM:266500 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
| Canavan Disease |
|
Hypertonia, Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... |
OMIM:248500 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Myoclon... |
OMIM:560000 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy |
ORPHA:44 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Optic disc pallor, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Prolonged n... |
OMIM:612291 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Ataxia, Retinal dystrophy, Aganglionic megacolon, Hypera... |
OMIM:209900 |
| Joubert Syndrome 22 |
|
Oculomotor apraxia, Microphthalmia, Retinal dysplasia |
OMIM:615665 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Hemiplegia/hemiparesis |
ORPHA:1173 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Optic atrophy, Abnormality of skin pigmentation, Dysphagia, Microp... |
OMIM:612379 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the liver |
ORPHA:474 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary ... |
OMIM:617675 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614897 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Flexion contracture, Retinal degeneration, Abnormally large globe |
OMIM:615249 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Abetalipoproteinemia |
|
Retinopathy, Ataxia, Retinal degeneration |
OMIM:200100 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal pyram... |
ORPHA:773 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesit... |
ORPHA:2822 |
| Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Difficulty walking... |
ORPHA:79244 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg... |
ORPHA:247234 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Retinal dege... |
OMIM:277700 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degeneration, Myoclonus, Dysph... |
OMIM:619780 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Failure to th... |
OMIM:615085 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
| Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
| Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetria, Paresthesia, Microphthalmia,... |
ORPHA:48431 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... |
ORPHA:71212 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Hypertonia, Distal arthrogryposis, Congenital finger flexion... |
OMIM:108145 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Inability to walk, Pigmentary retinopathy, Flexion contracture, Facial palsy |
OMIM:613156 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Pigmentary re... |
ORPHA:436271 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Failure to thrive, Small for gestational age, Camptodactyly of finger |
ORPHA:1617 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, Chorioreti... |
OMIM:212550 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Ataxia, Gait disturbance |
ORPHA:578 |
| Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, Decreased body weight, Micr... |
OMIM:614833 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Multiple lipomas |
ORPHA:122 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Spasticity, Restlessness |
OMIM:619517 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Abnormal pyramidal sign, Tetraplegia, Failure ... |
ORPHA:369939 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, A... |
ORPHA:90321 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Pigmentary retinopathy, Chol... |
ORPHA:79095 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Spasticity, Retinal degeneration |
OMIM:272200 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:195 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Lissencephaly 8 |
|
Appendicular spasticity, Microphthalmia, Optic atrophy |
OMIM:617255 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
| Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Retinal degeneratio... |
ORPHA:581 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor, Congenital diaphragmatic hernia |
OMIM:300887 |
| Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly,... |
OMIM:615673 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Restless legs, Somatic sensory dysfunction, Ataxia, Babinski sign, Dysme... |
ORPHA:94147 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, ... |
ORPHA:369873 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Abnormal retinal morphology, Camptodactyly of finger, Bilateral mic... |
OMIM:610758 |
| Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the... |
ORPHA:167 |
| Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Congenital contracture, Hypertonia, Ret... |
ORPHA:191 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... |
ORPHA:90674 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Babinski sign, Cholestasis, Pigmentary retinopathy, Tip-toe gait, D... |
ORPHA:746 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Corneal scarring,... |
ORPHA:404454 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Pierpont Syndrome |
|
Microphthalmia, Abnormal subcutaneous fat tissue distribution, Small for gestational age |
ORPHA:487825 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Spasticity |
OMIM:619059 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Chron... |
OMIM:203800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Retinal detachment |
OMIM:613153 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Joubert Syndrome 3 |
|
Oculomotor apraxia, Pigmentary retinopathy, Retinal dystrophy, Ataxia |
OMIM:608629 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Decreased liver function, Truncal at... |
OMIM:220110 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration |
OMIM:239000 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Chorea, Hypertonia |
OMIM:610623 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Microphakia |
ORPHA:171844 |
| Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Enamel hypoplasia, Hepatomegaly |
OMIM:253250 |
| Pierpont Syndrome |
|
Hypertonia, Microphthalmia, Failure to thrive, Decreased body weight |
OMIM:602342 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
| Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... |
ORPHA:2715 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Trichothiodystrophy |
|
Multiple joint contractures, Absence of subcutaneous fat, Bilateral microphthalmos, Abnormal pyra... |
ORPHA:33364 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Brushfield spots, Jaundice, Opt... |
OMIM:214110 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Poor fine motor coordination, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystroph... |
ORPHA:436245 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hy... |
OMIM:607459 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Spastic tetraparesis, Impulsivity, Unsteady gait, Optic atrophy, Flexion c... |
ORPHA:35069 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Restlessness, A... |
ORPHA:247585 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Spastic tetraparesis |
ORPHA:404451 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Jaundice, Optic atrophy, Poor fine motor coordination, Pigmentary retin... |
ORPHA:79282 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment |
ORPHA:627 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Progressive spasticity |
ORPHA:2528 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Flexion contracture, Optic atrophy,... |
OMIM:615663 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Decreased c... |
ORPHA:1493 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cafe-au-lait spot, Inguinal hernia, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Clonus, Optic atrophy, Abnormal pyramidal sign, Micro... |
ORPHA:370959 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Retinal pigment epithelial mottling |
OMIM:614105 |
| Developmental And Epileptic Encephalopathy 1 |
|
Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hypertonia, Erratic my... |
OMIM:308350 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Hepatomegaly, Hyperactivity, I... |
ORPHA:580 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Poor fine motor coordination, Retinal degeneration |
ORPHA:542306 |
| Nephronophthisis 11 |
|
Polydipsia, Hepatic fibrosis, Retinal degeneration |
OMIM:613550 |
| Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:605231 |
| Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Self-injurious behavior, Chorioretinal coloboma, Dysphagia, Attention deficit hype... |
ORPHA:494344 |
| Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Paraparesis, Flex... |
ORPHA:333 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Hypertonia, Optic atrophy |
ORPHA:2518 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
| Temtamy Syndrome |
|
Microphthalmia, Hypertonia, Self-mutilation, Chorioretinal coloboma |
OMIM:218340 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystroph... |
ORPHA:90324 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
| Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Hernia, Umb... |
OMIM:607014 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Hepatic fibrosis, Obesity |
ORPHA:110 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal detachment, Hypopigmentation of the fundus |
ORPHA:163649 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Microphthalmia, Spasticity |
ORPHA:2510 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Freckling, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Mi... |
OMIM:610651 |
| Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Inability to walk, Flexion contracture, Optic atrophy, Spastic tetraplegia... |
OMIM:614222 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Retinal atrophy, Ataxia, Abno... |
OMIM:216400 |
| Trisomy 13 |
|
Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
| Norrie Disease |
|
Retinal detachment, Aggressive behavior, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Reti... |
OMIM:310600 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Hemiplegia/hemiparesis, O... |
ORPHA:50 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Inability to walk, Retinal coloboma, Gait disturbance, Difficulty walking, Microphthalmia |
OMIM:618571 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Ataxia, Chorea, Optic atrophy, Dysphagia, Gait ataxia, Pigmentar... |
ORPHA:255210 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Failure to thrive, Retinal coloboma |
ORPHA:2328 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Limb hypertonia |
OMIM:614219 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... |
OMIM:216550 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno... |
ORPHA:899 |
| Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Moebius Syndrome |
|
Poor coordination, Dysphagia, Clumsiness, Facial diplegia, Dysdiadochokinesis, Gait disturbance, ... |
OMIM:157900 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Small for gestational age, Elev... |
OMIM:614866 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Premature graying of hair, White... |
ORPHA:902 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop... |
OMIM:619418 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... |
ORPHA:585 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Hemiplegia/hemiparesis |
ORPHA:1496 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Flexion contracture, Elbow flexion contracture, Kne... |
OMIM:214150 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Fl... |
OMIM:309900 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Failure to thrive, Chorioretinal coloboma |
OMIM:243310 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Failure to thrive |
OMIM:600462 |
| Lowry-Wood Syndrome |
|
Small for gestational age, Pigmentary retinopathy, Elbow flexion contracture |
OMIM:226960 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Retinal coloboma, Abnormal dental enamel morphology |
ORPHA:2791 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Inability to walk, Ataxia, Spastic gait, Spastic tetraparesis |
OMIM:616486 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Ataxia, Pancreatic fibros... |
ORPHA:699 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... |
ORPHA:1942 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Aggressive behavior, Retinal degeneration, Gait ataxia |
OMIM:618479 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Cerebral palsy, Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious ... |
OMIM:618914 |
| Bresek Syndrome |
|
Neonatal death, Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
| Joubert Syndrome 2 |
|
Ataxia, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Oculomotor apraxia, Micro... |
OMIM:608091 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Retinal detachment, Macular coloboma |
OMIM:615145 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradyki... |
OMIM:610217 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Brushfield spots, Unsteady gait... |
OMIM:214100 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Incoordination, Ataxia, Aggressive behavior, Bilateral microphthalmo... |
ORPHA:369891 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Small for gestational age, Abnormal au... |
OMIM:133540 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... |
ORPHA:193 |
| Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Retinal detachment, Abnormality of retinal pigmentation, Hepatomeg... |
ORPHA:394 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Inguinal hernia, Biliary tract abnormality, Obesity |
ORPHA:3191 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavio... |
OMIM:213300 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Spasticity, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Lower limb spasticity, Cerebral palsy, Ataxia, Hyperactivity, Aggressive behavior, ... |
ORPHA:163681 |
| Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Patchy... |
ORPHA:79474 |
| Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Self-injurious behavior, Hypertonia, Gait dis... |
ORPHA:192 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Joubert Syndrome 14 |
|
Microphthalmia, Optic atrophy, Ataxia, Morning glory anomaly |
OMIM:614424 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Decreased circulating cortisol level, Hyperactivity, Ataxia, Spastic tetra... |
ORPHA:139396 |
| Galloway-Mowat Syndrome 1 |
|
Ataxia, Small for gestational age, Hiatus hernia, Optic atrophy, Spastic tetraplegia, Hypoplasia ... |
OMIM:251300 |
| Prolidase Deficiency |
|
Splenomegaly, Abnormality of retinal pigmentation, White forelock, Hepatomegaly |
ORPHA:742 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Retinal detachment, Flexion contracture of the 2nd toe, Flexion contracture of th... |
ORPHA:2712 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Bone marrow hypocellularity, Decreased body weight, Microphthalmia, Cafe-... |
OMIM:609053 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Inability to walk, Optic atrophy, Bilateral wrist flexion contracture, Congenita... |
ORPHA:97297 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:139471 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Anorexia, Melanocytic nevus, Multiple cafe-au-lait... |
ORPHA:1969 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Obesity |
ORPHA:141333 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Flexion contracture, Optic atrophy, Retinal dys... |
OMIM:253800 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... |
OMIM:118450 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Retinal degeneration |
ORPHA:96179 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Abnormal dental enamel morphology |
ORPHA:886 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
| Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmat... |
ORPHA:3380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Congenit... |
OMIM:236670 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Umbilical hernia, Microphthalmia, Irregular hyperpigmentation, Retinopathy |
ORPHA:2505 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Lattice re... |
ORPHA:485 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Ataxia |
OMIM:530000 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Inguinal hernia, Hyperactivity, Hypoplasia of the iris, Hypochol... |
OMIM:223370 |
| Joubert Syndrome 37 |
|
Microphthalmia, Hepatomegaly, Oculomotor apraxia, Obesity |
OMIM:619185 |
| Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Babinski sign, Elbow flexion con... |
ORPHA:3132 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Optic atrophy... |
OMIM:613154 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Elevated circulating luteinizing hormone lev... |
ORPHA:90796 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Retinal dystrophy, Pancreatic steatosis, Exocrine pancreatic insufficiency, Hypome... |
OMIM:617052 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
ORPHA:2235 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Flexion contracture, Optic atrophy, Hepat... |
ORPHA:505248 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Camptodactyly, Microphthalmia, Joint contracture o... |
OMIM:136760 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Joint contracture of the hand, Retinal coloboma, Camptodactyly of finger |
OMIM:244300 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopa... |
OMIM:240300 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Increased axial length of the globe, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hernia |
OMIM:602501 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone... |
OMIM:616307 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Myoclon... |
OMIM:253280 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity |
OMIM:616562 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Failure to thrive, Fair hair, Ataxia, Retinal dystrophy, Cholangitis, Pancreatic cy... |
OMIM:266920 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon, Cachexia |
ORPHA:1438 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia, Flexion contracture, Optic atrophy, Spastic diplegia |
OMIM:614225 |
| Melas |
|
Abnormal central motor function, Ataxia, Optic atrophy, Hemiparesis, Pigmentary retinopathy, Gait... |
ORPHA:550 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Umbilical hernia |
OMIM:612582 |
| Khan-Khan-Katsanis Syndrome |
|
Corneal scarring, Buphthalmos, Pigmentary retinopathy, Hypertonia, Dysphagia, Joint contracture, ... |
OMIM:618460 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... |
OMIM:612109 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:617914 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Microphthalmia |
ORPHA:93267 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Optic atrophy, Hemiplegia, Microphthalmia, Lethargy, Failure to thrive, C... |
ORPHA:137675 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Hepatomegaly, Aganglionic megacolon, Abnormality of the panc... |
ORPHA:175 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Pigmentary retinopathy, Abnormality of extrapyramidal motor function, Lethargy, Failure t... |
OMIM:277400 |
| Jacobsen Syndrome |
|
Flexion contracture, Optic atrophy, Spasticity, Macular hypoplasia, Chorioretinal coloboma, Micro... |
OMIM:147791 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Failure to thrive, Ataxia |
OMIM:617883 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Scarring, Retinal vascular proliferation, Optic atro... |
OMIM:308300 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Large for gestational age, Umbilical hernia, Microphthalmia, Retinopathy |
ORPHA:77301 |
| Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Hypopigmented skin patches |
ORPHA:1553 |
| Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Pigmentary retinopathy, Camptodactyly |
OMIM:614230 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Optic disc coloboma, Self-injurious behavior, Chorioretinal coloboma, Mi... |
ORPHA:568 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Acute hepatic failure, Inguinal hernia, Abnormal dental enamel morphology, Congenita... |
ORPHA:2092 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Hypermyelinated retinal nerve fibers, Microphthalmia, Keloids, Jo... |
OMIM:601812 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:2556 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Retinal detachment, Spasticity, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atro... |
ORPHA:2785 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Inability to walk, Appendicular spasticity, Dysphagia |
OMIM:618494 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Bilateral microphthalmos, Retinal coloboma, Camptodactyly of finger |
ORPHA:2839 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Optic disc coloboma, Choreoathetosis, Chorioretinal col... |
OMIM:234100 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Knee flexion contracture, Attention deficit hyperactivity disorder, Microphthalmia, Abnor... |
ORPHA:435638 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Retinal dystrophy |
OMIM:616538 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Dysmetria, Vitreous hemorrhage, Attention deficit hypera... |
OMIM:620185 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Ovarian neoplas... |
ORPHA:744 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Hypopigmented skin pa... |
ORPHA:636 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Aggressive behavior, Gait disturbance, Joint contracture of the 5th finger, Compulsive behaviors,... |
OMIM:620098 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Small for gestational age, Camptodactyly of finger |
OMIM:610756 |
| Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Hemiparesis, Hypertonia, Cirrhosis, Microphthal... |
ORPHA:974 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microphthalmia, Small for gestational age |
OMIM:606744 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Small for gestational age, Camptodactyly |
OMIM:618804 |
| Holoprosencephaly |
|
Omphalocele, Anophthalmia, Failure to thrive in infancy, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:2162 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy |
OMIM:234050 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
| Trichothiodystrophy 3, Photosensitive |
|
Hypertonia, Microphthalmia, Failure to thrive, Increased circulating IgA level |
OMIM:616395 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Aicardi Syndrome |
|
Retinal detachment, Hepatoblastoma, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Op... |
OMIM:304050 |
| 3Q29 Microdeletion Syndrome |
|
Aggressive behavior, Abnormality of skin pigmentation, Gait disturbance, Attention deficit hypera... |
ORPHA:65286 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... |
ORPHA:468631 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Abnormal dental enamel morphology, Chorioretinal dysplasia, Clonus, Atypical sca... |
ORPHA:534 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Scarring alopecia of scalp, Enamel hypoplasia, Optic atrophy |
OMIM:618727 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal splee... |
ORPHA:2470 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Retinal nonattachment, Buphthalmos, Micr... |
OMIM:221900 |
| Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema, Microphthalmia, Small for gestational age |
OMIM:127000 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Macular atrophy, Hypersplenism, Splenomegaly, Hyperpigmentation of the skin |
OMIM:230800 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
| Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Stillbirth, Retinal vascular tortuosity, Microphthalmia |
OMIM:243605 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Spasticity, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
| Momo Syndrome |
|
Bilateral microphthalmos, Obesity, Chorioretinal coloboma, Large for gestational age |
ORPHA:2563 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, ... |
ORPHA:3455 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... |
OMIM:137920 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
| Trichothiodystrophy 1, Photosensitive |
|
Freckling, Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Microphth... |
OMIM:601675 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism, Myoclonus |
ORPHA:1352 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Camptodactyly, Microphthalmia, Caf... |
OMIM:619148 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory acti... |
ORPHA:2388 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Biliary atresia, Chorioretinal coloboma |
OMIM:115470 |
| Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder, Retinal coloboma |
OMIM:184705 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infanc... |
OMIM:219800 |
| Vici Syndrome |
|
Decreased circulating IgG level, Hypopigmentation of hair, Macular atrophy, Albinism, Decreased c... |
OMIM:242840 |
| Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Retinal coloboma, Microphthalmia |
OMIM:607323 |
| Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Iris transillumination defect, Generalized hypopigmentation, Decreased body weight |
OMIM:617306 |
| Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Anorexia, Macular... |
ORPHA:91500 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Microphthalmia, Cyanosis, Opisthotonus |
ORPHA:335 |
| Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Abnormal chorioretinal morphology, Pancreatic fibrosis, Asplenia,... |
ORPHA:564 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors |
ORPHA:404440 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Aggressive behavior, Inability to walk, Difficulty walking, Microphthalmia, Chol... |
ORPHA:464738 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:2547 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia, Failure to thrive, Camptodactyly of 2nd-5th fingers |
OMIM:206920 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of finger, Abnor... |
ORPHA:217085 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... |
OMIM:606519 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Camptodactyly of finger, Abnor... |
ORPHA:217093 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Polydipsia, Failure to thrive |
ORPHA:411629 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Femoral hernia, Abnormal optic nerve morphology, Microphthalmia |
ORPHA:3412 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Microphth... |
ORPHA:508498 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Lipomas of eyelids |
OMIM:167730 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior |
ORPHA:261272 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressive vitiligo, C... |
OMIM:251260 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Pigmentary retinopathy, Congenital diaphragmatic hernia |
OMIM:309801 |
| Gracile Bone Dysplasia |
|
Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Inguinal hernia, Optic disc coloboma, Camptodactyly of finger |
ORPHA:251014 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Spastic tetraparesis, Optic atrophy, Attention deficit hyperactivity disorder, Multiple cafe-au-l... |
OMIM:616975 |
| Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Flexion contracture, P... |
OMIM:300166 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Congenital contracture, Camptodactyly, Microphthalmia, Joint contracture of the ... |
OMIM:248700 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Aganglionic megacolon, Abnormal dental enamel morphology, Impaired T cell functi... |
ORPHA:567 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
| Alport Syndrome |
|
Macular degeneration, Retinal flecks, Dysphagia |
ORPHA:63 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Congenital diaphragmatic hernia, Chorioretinal coloboma |
ORPHA:268249 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Camptodactyly of finger, Limb hypertonia |
OMIM:616920 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Absence of subcutaneous fat... |
OMIM:620005 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Decreased body weight |
OMIM:266270 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Microphthalmia, Bile duct proliferation |
OMIM:603194 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Multiple lipomas, Bilateral microphthalmos, Lipomas of eyelids |
ORPHA:2399 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple central nervou... |
OMIM:613001 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Inguinal hernia, Spasticity |
OMIM:616449 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Inguinal hernia, Enamel hypoplasia |
OMIM:272460 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Spastic tetraplegia, Spastic diplegia,... |
OMIM:206900 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Camptodactyly, Microphthalmia, Spasticity, Failure to thrive |
OMIM:617729 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Inguinal hernia, Clonus, Spastic diplegia |
OMIM:212720 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto... |
ORPHA:892 |
| Frontofacionasal Dysplasia |
|
Brushfield spots, Microphthalmia |
ORPHA:1791 |
| Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... |
ORPHA:1692 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Spotty hypopigmentation,... |
ORPHA:401973 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia With Limb Anomalies |
|
Optic atrophy, Camptodactyly of 2nd-5th fingers, Microphthalmia, Failure to thrive, True anophtha... |
ORPHA:1106 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Inguinal hernia, Failure to thrive, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| Alström Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertension, Drusen, Obesity, ... |
ORPHA:64 |
| Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Hiatus hernia, Decreased body weight, Microphthalmia, Cafe-au-lait spot |
OMIM:300895 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
| Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microp... |
ORPHA:959 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Abnormality of skin pigmentation, Bone marrow hypocellularity, Attenti... |
OMIM:227646 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:612530 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Microphthalmia, Aniridia, Obesity |
ORPHA:251038 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Optic atrophy |
OMIM:201180 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Bone marrow hypocellularity, Microphthalmia, Cafe-au-lait spot, Hyperpigmentat... |
OMIM:603467 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Flexion contracture, Bone marrow hypocellularity, Microphthalmia, Cafe... |
OMIM:227645 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia |
OMIM:259770 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia, Abnormal liver lobulation, Camptodactyly of finger |
ORPHA:99776 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Failure to thrive |
OMIM:257850 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Retinal vascular malformation, Mic... |
ORPHA:42775 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Scarring alopecia of scalp, Flexion contracture |
ORPHA:35173 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Fryns Syndrome |
|
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Large for gestational age, Aplasia... |
OMIM:229850 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Aggressive behavior, Corneal sc... |
OMIM:309000 |
| Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size |
ORPHA:400 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Failure to thrive |
OMIM:302960 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Retinoblastoma |
OMIM:613884 |
| Pallister-Hall Syndrome |
|
Neonatal death, Microphthalmia, Decreased circulating cortisol level |
OMIM:146510 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Microphthalmia, Spasticity, Ataxia |
OMIM:278730 |
| Fanconi Anemia |
|
Aganglionic megacolon, Hypopigmented skin patches, Weight loss, Aplasia/Hypoplasia of the iris, M... |
ORPHA:84 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal arteriolar tortuosity, Babinski sign, Retinal hemorrhage, Hypoplasia of the iris, Hemipar... |
OMIM:175780 |
| Meckel Syndrome 14 |
|
Microphthalmia, Cyanosis, Hepatic fibrosis |
OMIM:619879 |
| Fryns Syndrome |
|
Omphalocele, Microphthalmia, Aganglionic megacolon, Congenital diaphragmatic hernia |
ORPHA:2059 |
| Degcags Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Small for gestational age, Hiatus hernia, Oral-pharyngeal... |
OMIM:619488 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
| 8Q24.3 Microdeletion Syndrome |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Optic nerve hypoplasia, Bilateral micr... |
ORPHA:508488 |
| Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Spasticity, Joint contracture of the 5th finger, Tetraparesis, Microphthalmi... |
OMIM:164200 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Camptodactyly of finger, Iris hypopigmentation |
ORPHA:284160 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Hiatus hernia, Abnormality of the spleen, Microphthalmia, Failure to ... |
ORPHA:2538 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma... |
OMIM:619539 |
| Charge Syndrome |
|
Anophthalmia, Facial palsy, Optic atrophy, Chorioretinal coloboma, Attention deficit hyperactivit... |
ORPHA:138 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cafe-au-lait spot, Small for gestational age, Hyperpigmentation of the skin |
OMIM:600901 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Fanconi Anemia, Complementation Group A |
|
Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot, Small for gestational age |
OMIM:227650 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Anophthalmia, Linear hyperpigmentation, Congenital diaphragmatic he... |
OMIM:305600 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Cafe-au-lait spot, Failure to thrive |
ORPHA:364577 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Failure to thrive, Hyperpigmented streaks |
OMIM:300952 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Microphthalmia, Annular pancreas, Small for gestational age |
OMIM:268400 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Optic disc coloboma, Facial palsy, Prolonged neonatal jaundice |
OMIM:620186 |
| Frontorhiny |
|
Microphthalmia, Pericallosal lipoma, Camptodactyly of finger |
ORPHA:391474 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:1806 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos |
ORPHA:93325 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Bilateral microphthalmos, Multilo... |
OMIM:601186 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Asplenia, Inability to walk, Fl... |
ORPHA:261537 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Obesity, Camptodactyly, Microphthalmia |
OMIM:139210 |
| Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia |
OMIM:251230 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:617244 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microphthalmia, Stillbirth |
OMIM:616300 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Aganglionic megacolon, Ataxia, Impaired pain sensation, Asplenia, Inability to ... |
ORPHA:2152 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Microphthalmia |
OMIM:264480 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:141099 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Congenital contracture |
OMIM:613150 |
| Treacher-Collins Syndrome |
|
Blepharospasm, Microphthalmia, Failure to thrive, Abnormal dental enamel morphology |
ORPHA:861 |
| Cousin Syndrome |
|
Microphthalmia, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly |
OMIM:260660 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Cafe-au-lait spot, Bone marrow hypocellularity, Attention deficit hyperactivity d... |
OMIM:614083 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Asplenia, Inability to walk, Fl... |
ORPHA:261552 |
| Charge Syndrome |
|
Omphalocele, Anophthalmia, Facial palsy, Unilateral microphthalmos, Retinal coloboma, Dysphagia, ... |
OMIM:214800 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Hypertonia, Camptodactyly of finger |
ORPHA:1236 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate,... |
OMIM:249000 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Neonatal death, Microphthalmia, U... |
OMIM:612289 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia, Failure to thrive, Retinal dystrophy |
OMIM:607932 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Facial palsy, Elbow flexion contracture, Atypical scarring of skin, Premature grayi... |
OMIM:113620 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Absent gallbladder, Neonatal death |
OMIM:617925 |
| Monosomy 13Q14 |
|
Microphthalmia, Retinoblastoma |
ORPHA:1587 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Truncal obesity, Self-injurious behavior, Camptodactyly, Microphthalmia, Failure to thriv... |
OMIM:612474 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia |
OMIM:248450 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Poor motor coordination, Congenital di... |
OMIM:613406 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Camptodactyly |
OMIM:272950 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Flexion contracture, Microphthalmia, Arthrogryposis multiplex conge... |
OMIM:263650 |
| Monosomy 9P |
|
Hypertonia, Microphthalmia, Hernia, Congenital diaphragmatic hernia |
ORPHA:261112 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Cellulitis |
OMIM:153400 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Inguinal hernia, Torticollis, Knee flexion contracture |
OMIM:609945 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus |
ORPHA:2108 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia, Multiple cafe-au-lait spots |
ORPHA:1052 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Cafe-au-lait spot, Failure to thrive |
OMIM:608670 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Umbilical hernia, Microphthalmia |
ORPHA:2166 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Aggressive behavior, Optic disc coloboma, Spastic diplegia, ... |
OMIM:309800 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Microphthalmia |
ORPHA:3186 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
| Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Failure to thrive, Chorioretinal coloboma |
ORPHA:857 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Roberts Syndrome |
|
Progressive flexion contractures, Microphthalmia, Wrist flexion contracture, Knee flexion contrac... |
ORPHA:3103 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Camptodactyly, Neonatal death... |
OMIM:256520 |
| Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Holoprosencephaly 7 |
|
Omphalocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Yunis-Varon Syndrome |
|
Severe failure to thrive, Microphthalmia, Bilateral microphthalmos |
ORPHA:3472 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon, Chorioretinal coloboma |
OMIM:235730 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Spasticity, Joint contracture of the hand, Camptodactyly |
OMIM:309500 |
| Pallister-Hall Syndrome |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Distal arthrogryposis, Microphthalm... |
ORPHA:672 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
OMIM:603457 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Frontal cutaneous lipoma |
OMIM:229400 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Congenital diaphragmatic hernia |
OMIM:273395 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Elbow flexion contracture, Biliary tract abnormality... |
OMIM:268300 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Microphthalmia, Stillbirth, Accessory spleen |
OMIM:236680 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Pericallosal lipoma, Camptodactyly of finger |
ORPHA:306542 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Fraser Syndrome |
|
Omphalocele, Umbilical hernia, Anophthalmia, Microphthalmia |
ORPHA:2052 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
| Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
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 |
