| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Generalized hypopigmentation, Fair hair, Cataract, Attention ... |
OMIM:261600 |
| Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides |
OMIM:103500 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
| Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis, Telecanthus |
OMIM:608890 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Depression, Anxiety |
ORPHA:231183 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypop... |
ORPHA:411515 |
| Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... |
OMIM:614170 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Ataxia, Cataract, Depression, Anxiety |
ORPHA:231169 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia |
ORPHA:3177 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... |
OMIM:615145 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Unsteady gait, Self-mutilation |
OMIM:615516 |
| Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
| Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Wh... |
OMIM:277580 |
| Horner Syndrome, Congenital |
|
Heterochromia iridis, Congenital Horner syndrome |
OMIM:143000 |
| Progressive Hemifacial Atrophy |
|
Ptosis, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
| Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Riboflavin Transporter Deficiency |
|
Aggressive behavior, Iris hypopigmentation, Ataxia, Ptosis, Tremor, Dysphagia |
ORPHA:97229 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Cognitive impairment, Epicanthus, Synophrys, Abnormality of retin... |
ORPHA:1390 |
| Tonne-Kalscheuer Syndrome |
|
Downslanted palpebral fissures, Aggressive behavior, Self-injurious behavior, Anxiety, Tremor, Bl... |
OMIM:300978 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Ataxia, Hypopigmented skin patches, Hyp... |
ORPHA:2885 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Abnormal heart morpho... |
ORPHA:1067 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| 8Q21.11 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Iris hypopigmentation, Ptosis, Cata... |
ORPHA:284160 |
| Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation, Iris tran... |
OMIM:619165 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dyst... |
ORPHA:1806 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea |
ORPHA:139471 |
| Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Linear hyperpigmentation, Ventricular septal defect, Hypoplasia of t... |
OMIM:613001 |
| 3Q29 Microduplication Syndrome |
|
Downslanted palpebral fissures, Ventricular septal defect, Aniridia, Iris coloboma, Cataract, Scl... |
ORPHA:251038 |
| Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, Ptosis, White forelock, Heterochromia irid... |
ORPHA:895 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation of hair, Generalized hypopigmentation... |
ORPHA:352731 |
| Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
| Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Long eyelashes, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Cognitive impairment, Corneal opacity, Ataxia |
ORPHA:1532 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Epicanthus, Long eyelashes, Microcornea, Cataract, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
| Xq25 Microduplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Epicanthus, Abnormality of the palpebral fissures, Anxiety, Highly... |
ORPHA:521258 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Happy demeanor, Ataxia, Hypo... |
ORPHA:411511 |
| Frontofacionasal Dysplasia |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... |
ORPHA:1791 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Sclerocornea |
ORPHA:2095 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Happy demeano... |
ORPHA:98794 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Cataract, Pigmentary... |
OMIM:614230 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Cardiomyopathy |
ORPHA:67048 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Partial albinism |
ORPHA:79476 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation, Gait disturbance, Ataxia, Hepatomegaly, ... |
ORPHA:834 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Blepharophimosis, Synophrys, Hypopigmented skin patches, White foreloc... |
OMIM:148820 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Epicanthus, Agitation, Impulsivity |
OMIM:309548 |
| Noonan Syndrome 13 |
|
Downslanted palpebral fissures, Aggressive behavior, Head-banging, Cafe-au-lait spot, Epicanthus,... |
OMIM:619087 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Gait disturbance, Microcornea,... |
ORPHA:3214 |
| Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia |
ORPHA:177910 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Aggressive behavior, Epicanthus, Agitation, Microcornea, Astigmat... |
OMIM:152950 |
| Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Hypopigmentation of the skin, Self-injurious behavior, Inabil... |
ORPHA:72 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Epicanthus, Hand tremor, Dysmetria, Blue irides, Upslanted palpebral fissure, ... |
ORPHA:3041 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Ventricular septal defect, Sclerocornea |
ORPHA:77298 |
| Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Hepatomegaly, Mental deterioration, Dystonia |
OMIM:615924 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Epicanthus, Agitation, Impulsivity |
ORPHA:100973 |
| Phace Syndrome |
|
Abnormality of the orbital region, Abnormal cardiac septum morphology, Lens coloboma, Ptosis, Iri... |
ORPHA:42775 |
| Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... |
ORPHA:79433 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... |
ORPHA:3077 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Bipolar affective disorder, Astigmatism, Attention deficit hyperactivity disorder,... |
OMIM:619927 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Ataxia, Cataract, Depression, Anxiety |
ORPHA:231178 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Hyperpigmented streaks, Lacrimal duct atresi... |
OMIM:300952 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia |
OMIM:271310 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Epicanthus |
ORPHA:85288 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Chromosome Xq25 Duplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Epicanthus, Anxiety, Thick eyebrow, Highly arched eyebrow |
OMIM:300979 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Ptosis, Cataract, Iris coloboma, Corneal opacity, Chorioretinal coloboma |
ORPHA:1473 |
| Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, Irritabi... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Tremor |
OMIM:619470 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Hepatomegaly |
ORPHA:1980 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Iris hypopigmentation, Ataxia, Hypopigmen... |
ORPHA:381 |
| Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash... |
ORPHA:79432 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Angelman Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Hypopigmentation of the skin, Fair hair, Progressiv... |
OMIM:105830 |
| Mucolipidosis Type Iii |
|
Cognitive impairment, Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal ... |
ORPHA:577 |
| Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Downslanted palpebral fissures, Self-injurious behavior, Ventricul... |
ORPHA:818 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia, Tremor |
OMIM:300983 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder |
ORPHA:2382 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati... |
ORPHA:54 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Iris coloboma, Pete... |
OMIM:309801 |
| Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... |
ORPHA:2884 |
| Stromme Syndrome |
|
Microcornea, Iris coloboma, Peters anomaly, Cataract, Sclerocornea |
OMIM:243605 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Wagro Syndrome |
|
Downslanted palpebral fissures, Aggressive behavior, Agitation, Emotional lability, Ptosis, Catar... |
OMIM:612469 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Ptosis, Thick eyebrow |
OMIM:618362 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract |
ORPHA:75858 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
| Wolf-Hirschhorn Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Abnormal cardiac septum morphology, Epicanthus, Atr... |
ORPHA:280 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Zellweger Syndrome |
|
Brushfield spots, Cognitive impairment, Posterior embryotoxon, Ventricular septal defect, Epicant... |
ORPHA:912 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormality of skin pigmenta... |
ORPHA:2556 |
| Harel-Yoon Syndrome |
|
Inability to walk, Developmental cataract, Ataxia, Hypertrophic cardiomyopathy, Corneal opacity, ... |
OMIM:617183 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Ventricular septal defect, Iris hypopigmentation, Cataract, Aplasia/... |
ORPHA:85194 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... |
ORPHA:98818 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Epicanthus, Cataract, Palpebral edema, Abnormal heart morphology, Hepatomegaly,... |
OMIM:214110 |
| Albinism, Oculocutaneous, Type Vii |
|
Albinism, Iris transillumination defect |
OMIM:615179 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Hypopigmentation of hair, Dy... |
ORPHA:98795 |
| Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis, Cognitive impairment, Epicanthus |
ORPHA:90646 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Waardenburg Syndrome, Type 2E |
|
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... |
OMIM:611584 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Noonan Syndrome 4 |
|
Downslanted palpebral fissures, Sparse eyebrow, Ventricular septal defect, Bilateral ptosis, Epic... |
OMIM:610733 |
| Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid morphology, Cognitive impairment, Corneal opac... |
ORPHA:1794 |
| Acrofrontofacionasal Dysostosis |
|
Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmente... |
ORPHA:1784 |
| Norrie Disease |
|
Abnormal pupil morphology, Self-injurious behavior, Hypoplasia of the iris, Anterior chamber syne... |
ORPHA:649 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Hyperactivity, Blue irides |
OMIM:614613 |
| Koolen-De Vries Syndrome |
|
Hyperactivity, Ventricular septal defect, Epicanthus, Blepharophimosis, Iris hypopigmentation, Bi... |
OMIM:610443 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia |
ORPHA:3198 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
| Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Narrow palpebral fissure, Atrial septal defect, Cataract, Double inlet left ventr... |
OMIM:619869 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Opacification of the corneal stroma, Dystonia, Corneal opacity |
OMIM:252650 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplast... |
OMIM:193500 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Choroideremia, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Cataract... |
ORPHA:2719 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane |
ORPHA:79414 |
| Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hooded eyelid, Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety |
OMIM:619467 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
| Chromosome Xq13 Duplication Syndrome |
|
Short palpebral fissure, Hyperactivity, Aggressive behavior, Medial flaring of the eyebrow, Spars... |
OMIM:301069 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... |
ORPHA:79477 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
| Congenital Microcoria |
|
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... |
ORPHA:566 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Corneal opacit... |
OMIM:602562 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2370 |
| Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
| Sialidosis Type 2 |
|
Ataxia, Tremor, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Epicanthus, Upslanted palpebral fissure, Telecanthus |
OMIM:615286 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Epicanthus, Almond-shaped palpebral fissure, Upslanted palpeb... |
ORPHA:251383 |
| Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk, Tremor |
OMIM:618718 |
| Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
| Neuroocular Syndrome |
|
Lagophthalmos, Synophrys, Lens coloboma, Iris coloboma, Peters anomaly, Blue irides, Distichiasis... |
OMIM:619539 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Developmental cataract, Impulsivity, Attention deficit hypera... |
OMIM:620141 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Upslanted ... |
OMIM:301013 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Epicanthus, Almond-shaped palpebral fissure, Upslanted palpeb... |
OMIM:300831 |
| Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
| Norrie Disease |
|
Aggressive behavior, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior ... |
OMIM:310600 |
| Gand Syndrome |
|
Blepharophimosis, Hyperactivity, Inappropriate laughter, Narrow palpebral fissure |
OMIM:615074 |
| Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Anxiety, Inability to walk, Truncal ataxia, Dysdiadochokinesi... |
ORPHA:228360 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Ataxia, Cataract, White hair |
ORPHA:2720 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hyperopic astigmatism, Blepharophimosis, Ptosis, Telecanthus |
ORPHA:397973 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Impulsivity, Dysphagia, Dystonia |
ORPHA:500180 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Microcornea, Cataract, Situs i... |
ORPHA:564 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Wyburn-Mason Syndrome |
|
Iris hypopigmentation, Irritability |
ORPHA:53719 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Hermansky-Pudlak Syndrome 8 |
|
Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Silver-gr... |
OMIM:614077 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Synophrys, Asymmetric septal hypertrophy, Progressive neurolo... |
OMIM:252920 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety |
OMIM:271980 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Ventricular septal defect, Epicanthus, Cataract, Unsteady gait, Loss of ambulat... |
OMIM:214100 |
| Prader-Willi Syndrome Due To Translocation |
|
Patent foramen ovale, Upslanted palpebral fissure, Hypopigmentation of the skin, Head-banging, Ir... |
ORPHA:177907 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cog... |
ORPHA:309246 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:618815 |
| Yunis-Varon Syndrome |
|
Sparse eyebrow, Ventricular septal defect, Atrial septal defect, Cataract, Upslanted palpebral fi... |
ORPHA:3472 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Ventricular septal defect, Sclerocornea |
OMIM:206900 |
| Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Cognitive impairment, Self-injurious behavior, Bip... |
OMIM:601853 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Epicanthus, Narrow palpebral fissure, Anxiety, Upslanted palp... |
OMIM:617752 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Epicanthus, Long palpebral fissure, Ataxia, Broad-based gait, Anxie... |
ORPHA:438216 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Abnormality of r... |
ORPHA:290 |
| Proteus-Like Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Irregular hyperpigmentation, Limbal de... |
ORPHA:2969 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Epicanthus, Tremor, Attention... |
OMIM:618342 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Hyperactivity, Aggressive behavior, Horizontal eyebrow, Ventricular septal ... |
ORPHA:369891 |
| Digeorge Syndrome |
|
Short palpebral fissure, Truncus arteriosus, Posterior embryotoxon, Ventricular septal defect, Bl... |
OMIM:188400 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Agitation, Anxiety, Upslanted palpebral fissure, Restlessness |
OMIM:300558 |
| Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair |
OMIM:619172 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Astigmatism, Hypopigmentation of hair, Blue irides, White hair, Absent... |
OMIM:203100 |
| Juvenile Sialidosis Type 2 |
|
Ataxia, Hepatosplenomegaly, Cataract, Dysmetria, Loss of ambulation, Corneal opacity, Hepatomegal... |
ORPHA:93399 |
| Bartsocas-Papas Syndrome 2 |
|
Ankyloblepharon, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Corneal opacity |
OMIM:619339 |
| Sturge-Weber Syndrome |
|
Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Attention deficit hypera... |
ORPHA:3205 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis |
OMIM:620023 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
| Alpha-Mannosidosis, Adult Form |
|
Ataxia, Hepatosplenomegaly, Cataract, Corneal opacity, Depression, Anxiety |
ORPHA:309288 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Long palpebral fissure, Microcornea, Ptosis, Iris col... |
ORPHA:2995 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Abnormal iris pigmentation |
OMIM:132900 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hyperopic astigmatism, Epicanthus, Narrow palpebral fissure, Long palpebral fissur... |
ORPHA:363686 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Cognitive impairment, Inability to walk, Hemidystonia, Emotional lability, Attenti... |
ORPHA:1929 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short palpebral fissure, Hyperactivity, Epicanthus, Unilateral ptosis, Atrial septal defect, Atte... |
ORPHA:485405 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Spastic gait, Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Upslanted palp... |
ORPHA:496790 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Emotional lability, Keratitis, Opacification of the corneal stro... |
OMIM:256800 |
| Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Self-injurious behavior, Epicanthus, Bulimia, Iris hypopigmentation... |
ORPHA:398073 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
| Distal Monosomy 6P |
|
Downslanted palpebral fissures, Self-injurious behavior, Posterior embryotoxon, Epicanthus, Hypop... |
ORPHA:96125 |
| Juvenile Xanthogranuloma |
|
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Blepharitis |
ORPHA:158000 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Pigmentary retinopathy, Brushfield spots, Ventricular septal defect, Epicanthus, Atrial septal de... |
OMIM:614866 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Synophrys, Ataxia, Polypha... |
ORPHA:228402 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Anxiety, Impulsivity, Abnormal eating behavior |
ORPHA:101039 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Self-injurious behavior, Bulimia, Iris hypopigmentation, Almond-sha... |
ORPHA:98754 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
| Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
| Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Cognitive impairment, Inability to walk, Pericardial effusion, Iris... |
ORPHA:167 |
| Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Aggressive behavior, Synophrys, Ataxia, Impulsivity, Anxiety, Upslanted palpebral ... |
OMIM:616977 |
| Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Hyperactivity, Aggressive behavior, Self-injurious behavior, Blephar... |
OMIM:600430 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Self-injurious behavior, Bulimia, Iris hypopigmentation, Almond-sha... |
ORPHA:98793 |
| Erythrokeratodermia Variabilis |
|
Hypermelanotic macule, Cataract, Corneal opacity, Irregular hyperpigmentation |
ORPHA:317 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Self-injurious behavior, Bulimia, Iris hypopigmentation, Almond-sha... |
ORPHA:177904 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Cognitive impairment, Limb dystonia, Ataxia, Tremor, Hepatomegaly, Pr... |
ORPHA:363400 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Cataract, Abnormal eyelash morpholo... |
ORPHA:2399 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Self-injurious behavior, Bulimia, Iris hypopigmentation, Almond-sha... |
ORPHA:177901 |
| Sialidosis Type 1 |
|
Gait disturbance, Ataxia, Cataract, Tremor, Corneal opacity, Splenomegaly |
ORPHA:812 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Hyperactivity, Aggressive behavior, Downslanted palpebral fissures, Self-in... |
OMIM:620075 |
| Duane Retraction Syndrome |
|
Abnormal pupil morphology, Short palpebral fissure, Irregular hyperpigmentation, Blepharospasm, P... |
ORPHA:233 |
| Hermansky-Pudlak Syndrome 5 |
|
Albinism, Iris transillumination defect, Ocular albinism |
OMIM:614074 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Self-injurious behavior, Generalized hypopigmentation, Iris hypopig... |
OMIM:176270 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity, Chorioretinal coloboma |
ORPHA:137902 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Corneal opacity, Curly eyelashes, Sparse eyelashes, Blepharitis |
OMIM:602400 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Inability to walk, Motor deterioration, Gait disturbance, Men... |
ORPHA:168491 |
| Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
| Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Corneal... |
ORPHA:1234 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Downslanted palpebral fissures, Inability to walk, Ataxia, Abnormal cornea morphology, Corneal op... |
ORPHA:357058 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Gait disturbance, Ataxia, Heterochromia iridis, Corne... |
ORPHA:1764 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Hepatomegaly, Rapid neurologic de... |
ORPHA:585 |
| Gm1 Gangliosidosis |
|
Oral aversion, Cognitive impairment, Ventricular septal defect, Gait disturbance, Ataxia, Hepatos... |
ORPHA:354 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Splenomegaly, Abnormal eyebrow morphology, Premature graying of hair, Ataxia, Hypopigmented skin ... |
ORPHA:163746 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Depression, Anxiety, Vitiligo, Agoraphobia, Opisthotonus |
OMIM:184850 |
| Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Ventricular septal defect, Se... |
ORPHA:3306 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Choking episodes, Gait disturbance, Psychomotor deterioration, Emotional lability,... |
ORPHA:35069 |
| Knobloch Syndrome 1 |
|
Horizontal eyebrow, Iris transillumination defect, Epicanthus, Developmental cataract, Ataxia, Le... |
OMIM:267750 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
| Wiedemann-Steiner Syndrome |
|
Short palpebral fissure, Brow ptosis, Hyperactivity, Aggressive behavior, Downslanted palpebral f... |
OMIM:605130 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Ptosis, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Gait disturbance, Dementia, Attention d... |
ORPHA:43 |
| Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin ... |
ORPHA:636 |
| Nail-Patella Syndrome |
|
Lester's sign, Abnormal iris pigmentation, Tip-toe gait, Primary congenital glaucoma, Antecubital... |
ORPHA:2614 |
| Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Kayser-Fleischer ring, Depression, Hepatomegaly, Difficulty ... |
ORPHA:905 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Corneal opacity |
ORPHA:281090 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Inability to walk |
OMIM:166300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Corneal opacity |
OMIM:613153 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia |
OMIM:272800 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Ataxia, Skin-picking, Hepatom... |
ORPHA:163681 |
| Mucopolysaccharidosis Type 3 |
|
Synophrys, Hepatomegaly, Dysphagia, Splenomegaly, Aggressive behavior, Abnormal mitral valve morp... |
ORPHA:581 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Cataract, Abnormal heart morphology, Corneal opacity, Hyperpigmentation ... |
ORPHA:1867 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Abnormal eyelid morphology, Emotional lability, Tremor, Polyphagia, Hepatomegaly, ... |
ORPHA:525731 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
| Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly |
ORPHA:61 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Upslanted palpebral fissure, Impulsivity, Hyperactivity, Synophrys |
OMIM:300143 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Epicanthus, Agitation, Truncal titubation, Dysmetria, ... |
OMIM:618056 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:79292 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... |
OMIM:618052 |
| Mucolipidosis Type Iv |
|
Ataxia, Gait disturbance, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Pica, Hyperactivity, Happy demeanor, Ataxia, Unsteady gait, Thick eyebrow, Highly arched eyebrow,... |
OMIM:617865 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
| Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Aggressive behavior, Epicanthus, Almond-shaped palpebral fissure, Hepatomegaly, An... |
OMIM:619695 |
| Yunis-Varon Syndrome |
|
Patent foramen ovale, Sparse eyebrow, Ventricular septal defect, Epicanthus, Cataract, Tetralogy ... |
OMIM:216340 |
| Adenylosuccinase Deficiency |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Happy demeanor, Inappropriate... |
OMIM:103050 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysmetria, Dysph... |
OMIM:610217 |
| Down Syndrome |
|
Brushfield spots, Double outlet right ventricle, Atrioventricular canal defect, Patent foramen ov... |
OMIM:190685 |
| Nail-Patella Syndrome |
|
Lester's sign, Microcornea, Antecubital pterygium, Ptosis, Cataract, Keratoconus, Microphakia |
OMIM:161200 |
| Tangier Disease |
|
Cicatricial ectropion, Left ventricular hypertrophy, Ectropion, Hepatomegaly, Opacification of th... |
OMIM:205400 |
| Aniridia 1 |
|
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Corneal neovascularization, Anterior s... |
OMIM:106210 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Blepharophimosis, Upslanted palpebral fissure, Abnormal cardiac septum morphology, Ocular albinism |
ORPHA:1352 |
| Congenital Sialidosis Type 2 |
|
Developmental cataract, Hepatosplenomegaly, Ataxia, Cataract, Dysmetria, Corneal opacity, Hepatom... |
ORPHA:93400 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, Torticollis, White eyebrow, Ataxia, Hepatosplenomegaly, Hypopigmented skin patch... |
OMIM:609136 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Epicanthus, Aplasia/Hypoplasia of the iris, Hypertrophic card... |
ORPHA:904 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Memory impairment, Anxiety, Inability to walk, Gait disturbance, He... |
ORPHA:845 |
| Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
| Microphthalmia, Syndromic 6 |
|
Orbital cyst, Sclerocornea, Microcornea |
OMIM:607932 |
| Proboscis Lateralis |
|
Abnormal nasolacrimal system morphology, Abnormal location of the eyebrow, Abnormal eyebrow morph... |
ORPHA:141099 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Melanocytic nevus, Blue irides, Epicanthus |
OMIM:101800 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Akinesia, Eyelid apraxia, Choreoathetosis, Gait disturbance, Dement... |
OMIM:234200 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Irritability, Ataxia |
OMIM:616881 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Ptosis, Iris coloboma, Eyelid coloboma, Corneal opacity |
ORPHA:1647 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Aggressive behavior, Synophrys, Broad eyebrow, Keratoconjunctivitis sicca, Long e... |
ORPHA:495875 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... |
OMIM:610042 |
| Multiple Sulfatase Deficiency |
|
Ataxia, Rapid neurologic deterioration, Corneal opacity, Hepatomegaly, Splenomegaly |
OMIM:272200 |
| Tbck-Related Intellectual Disability Syndrome |
|
Cognitive impairment, Ventricular septal defect, Inability to walk, Epicanthus, Synophrys, Bipola... |
ORPHA:488632 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Depression |
OMIM:620114 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Downslanted palpebral fissures, Ventricular septal defect, Astigma... |
OMIM:301056 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Progressive... |
OMIM:268800 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Mitral valve prolapse, Attention def... |
ORPHA:449291 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Pulmonic stenosis, Anxiety |
OMIM:617600 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Epicanthus, Blepharophimosis,... |
ORPHA:85293 |
| Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism, Hepatomegaly, Dystonia, Splenomegaly |
OMIM:617050 |
| Cystinosis |
|
Gait disturbance, Corneal opacity, Polydipsia |
ORPHA:213 |
| Lowry-Maclean Syndrome |
|
Downslanted palpebral fissures, Atrioventricular canal defect, Developmental glaucoma, Megalocorn... |
ORPHA:2409 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Hermansky-Pudlak Syndrome 2 |
|
Generalized hypopigmentation, Epicanthus, Ocular albinism, Fair hair, Albinism, Aberrant melanoso... |
OMIM:608233 |
| Hurler Syndrome |
|
Cardiomyopathy, Bilateral ptosis, Hepatosplenomegaly, Corneal opacity, Hepatomegaly, Progressive ... |
OMIM:607014 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Ocular albinism, Epicanthus, Albinism, Left ventricular hypertrophy... |
OMIM:242840 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Epicanthus, Limbal dermoid, Atrial septal defect, Microcornea, Astigmatism, Hypert... |
OMIM:600268 |
| Mucopolysaccharidosis Type 4 |
|
Cognitive impairment, Gait disturbance, Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Apathy, Dystonia, Dementia |
OMIM:272750 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Dysplastic aortic valve, Abnormal left ventricle morphology... |
ORPHA:264450 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Irritability, Inability to walk |
OMIM:617864 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Visceromegaly, Hepatosplenomegaly |
OMIM:256540 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Abnormal mitral valve morphology, Abnor... |
ORPHA:580 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| 3Mc Syndrome 3 |
|
Blepharophimosis, Ptosis, Epicanthus inversus, Corneal opacity, Highly arched eyebrow |
OMIM:248340 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Thick eyebrow, Emotional lability |
OMIM:620047 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Generalized hypopigmentation, Blepharophi... |
OMIM:604292 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Short palpebral fissure, Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Self... |
OMIM:616078 |
| Wiedemann-Steiner Syndrome |
|
Short palpebral fissure, Hyperactivity, Aggressive behavior, Anxiety, Epicanthus, Synophrys, Long... |
ORPHA:319182 |
| Hurler Syndrome |
|
Cardiomyopathy, Abnormality of skin pigmentation, Abnormal heart valve morphology, Corneal opacit... |
ORPHA:93473 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Cognitive impairment, Gait disturb... |
ORPHA:464 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Dacryocystitis, Generalized hypopigmentation, Blepharophimosis, Fair hair, Blue i... |
OMIM:129900 |
| Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Coronary artery stenosis, Ventricular septal defect, Premature gra... |
OMIM:194050 |
| Fucosidosis |
|
Cardiomegaly, Corneal opacity, Hepatomegaly |
ORPHA:349 |
| Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
| Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... |
ORPHA:2388 |
| Fabry Disease |
|
Cognitive impairment, Abnormal aortic valve morphology, Left ventricular hypertrophy, Hypertrophi... |
ORPHA:324 |
| Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Impaired oropharyngeal swallow response, Ptosis, Dysmetria, Impaired oral bolus for... |
OMIM:615273 |
| Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
| Walker-Warburg Syndrome |
|
Microcornea, Iris coloboma, Cataract, Corneal opacity, Chorioretinal dysplasia |
ORPHA:899 |
| De Barsy Syndrome |
|
Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, Cataract, Corneal opacity,... |
ORPHA:2962 |
| Legius Syndrome |
|
Hyperactivity, Cognitive impairment, Mitral valve prolapse, Cataract, Attention deficit hyperacti... |
ORPHA:137605 |
| Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Hepatomegaly, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:253010 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Thick eyebrow, Splenomegaly, Card... |
OMIM:253220 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Ptosis, Exaggerated startle response, Long eyelashes, Dysphagia |
OMIM:617301 |
| Moebius Syndrome |
|
Epicanthus, Ptosis, Multiple cafe-au-lait spots, Corneal opacity, Dysphagia, Blepharitis |
ORPHA:570 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk |
OMIM:609541 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Gait disturbance, Astigmatism, Attention deficit hyperactivity disorde... |
ORPHA:464311 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Downslanted palpebral fissures, Hyperactivity, Cafe-au-lait spot, Ventricular septal defect, Epic... |
OMIM:607721 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Cognitive impairment, Ventricular septal defect, Abnormal cardi... |
ORPHA:2092 |
| Alpha-Mannosidosis, Infantile Form |
|
Ataxia, Hepatosplenomegaly, Astigmatism, Cataract, Corneal opacity, Depression, Anxiety, Highly a... |
ORPHA:309282 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Corneal opacity, Upslanted palpebr... |
ORPHA:99776 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short palpebral fissure, Cafe-au-lait spot, Synophrys, Thin eyebrow, Corneal opacity, Telecanthus |
ORPHA:364577 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Fair hair, Red hair, Hyperactivity, Blue irides |
ORPHA:280651 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
OMIM:607015 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
| Hermansky-Pudlak Syndrome 6 |
|
Albinism, Hypopigmentation of the skin, Ocular albinism |
OMIM:614075 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Ventricular septal defect, Gait disturbance, Astigmatism, Corneal opacity, Anxiety... |
ORPHA:464306 |
| Dyggve-Melchior-Clausen Disease |
|
Difficulty walking, Hyperactivity, Corneal opacity, Inability to walk |
ORPHA:239 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Tangier Disease |
|
Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Ectropion, Corneal op... |
ORPHA:31150 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Aortic valve calcification, Hepatomegaly, Cardiomegaly, Opacificat... |
OMIM:231005 |
| Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Abnormality of skin pigmentation, Ab... |
ORPHA:355 |
| Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity, Chorioretinal coloboma |
OMIM:120200 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Iris coloboma, Corneal opaci... |
ORPHA:2396 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Gait ataxia, Downslanted palpebral fissures, Hyperactivity, Aggressive behavior, Hand tremor, Lon... |
OMIM:614756 |
| Farber Disease |
|
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma, Hepatosple... |
ORPHA:333 |
| 1P36 Deletion Syndrome |
|
Horizontal eyebrow, Abnormal eyebrow morphology, Self-injurious behavior, Abnormal cardiac septum... |
ORPHA:1606 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Retinoblastoma |
|
Leukocoria, Uveitis, Abnormality of retinal pigmentation, Heterochromia iridis, Hypopyon |
ORPHA:790 |
| Chime Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Epicanthus, Ptosis, Corneal opacity, Upslante... |
ORPHA:3474 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Spotty hypopigmentation, Cataract, Abnormal heart morphology,... |
ORPHA:401973 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse, Gait disturbance, Peripheral opacification of the cornea, Corneal opacity,... |
OMIM:259600 |
| Chromosome 15Q25 Deletion Syndrome |
|
Downslanted palpebral fissures, Hyperactivity, Ventricular septal defect, Abnormal cardiac septum... |
OMIM:614294 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
| Proteus Syndrome |
|
Downslanted palpebral fissures, Irregular hyperpigmentation, Abnormality of skin pigmentation, Me... |
ORPHA:744 |
| Argininemia |
|
Hyperactivity, Irritability, Spastic gait, Hepatomegaly |
OMIM:207800 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Downslanted palpebral fissures, Abnormality of skin pigmentation, Ep... |
ORPHA:1052 |
| Schimke Immuno-Osseous Dysplasia |
|
Hypermelanotic macule, Corneal opacity, Multiple lentigines |
ORPHA:1830 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, C... |
ORPHA:579 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Abnormal heart valve morphology, Atrial septal defe... |
ORPHA:536471 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal eros... |
ORPHA:2273 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Abnormality of retinal pigmentation, Ectopia pupillae |
ORPHA:85167 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short palpebral fissure, Cafe-au-lait spot, Ventricular septal defect, Synophrys, Thin eyebrow, V... |
OMIM:608670 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal... |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cognitive impairment, Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal... |
ORPHA:217093 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Self-injurious behavior, Lentiglobus, Generalized hypopigmentation, Bu... |
ORPHA:534 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Corneal opacity |
OMIM:163200 |
| Ablepharon Macrostomia Syndrome |
|
Cryptophthalmos, Abnormality of skin pigmentation, Corneal erosion, Absent eyelashes, Ablepharon,... |
ORPHA:920 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Ventricular septal defect, Corneal opacity, Hepatomegaly, Congenital aphakia, Cardi... |
ORPHA:137675 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Cardiac rhabdomyoma, Retinal hamarto... |
ORPHA:805 |
| Wilson Disease |
|
Limb dystonia, Hand tremor, Dementia, Tremor, Kayser-Fleischer ring, Hepatomegaly, Dysphagia, Dys... |
OMIM:277900 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Shallow orbits, Corneal stromal edema |
OMIM:601812 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Limb dystonia, Corneal neovascularization, Developmental catar... |
OMIM:175780 |
| Fryns Syndrome |
|
Tetralogy of Fallot, Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2059 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Bacterial endocarditis, Limb ataxia, Hepatosplenomegaly, Broad-based gait, Ptosis, ... |
ORPHA:2072 |
| Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Corneal opacity, Hypopigmented skin patches |
ORPHA:96061 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity |
OMIM:236670 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Hepatosplenomegal... |
OMIM:274000 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Shuffling gait, Abnormal mitral valve morphology, Mitral stenosis, Abnor... |
ORPHA:740 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Abnormality of skin pigmentation, Ectropion, Corneal opacity, Dysphagia |
ORPHA:2908 |
| Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Corneal opacity, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:253200 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypopigmentation of the skin, Depigmentation/hyperpigmentation of skin, Corneal opacity, Hyperpig... |
ORPHA:79396 |
| Larsen Syndrome |
|
Shallow orbits, Corneal opacity, Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
| Fraser Syndrome 1 |
|
Cryptophthalmos, Absent eyelashes, Lacrimal duct aplasia, Malformed lacrimal duct, Upper eyelid c... |
OMIM:219000 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Inability to walk,... |
ORPHA:438213 |
| Peters Plus Syndrome |
|
Short palpebral fissure, Abnormal cardiac septum morphology, Anterior chamber synechiae, Microcor... |
ORPHA:709 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Ectopia cordis, Atrial septal defect, Lens subluxation, Iris coloboma,... |
ORPHA:2369 |
| Wiedemann-Rautenstrauch Syndrome |
|
Pigmentary retinopathy, Lagophthalmos, Entropion, Truncal ataxia, Synophrys, Ataxia, Cataract, Tr... |
ORPHA:3455 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Downslanted palpebral fissures, Exaggerated startle response, Ventricular septal defect, Epicanth... |
OMIM:619522 |
| Osteogenesis Imperfecta |
|
Mitral valve prolapse, Gait disturbance, Ataxia, Loss of ambulation, Corneal opacity, Dysphagia, ... |
ORPHA:666 |
| Autosomal Dominant Cutis Laxa |
|
Ptosis, Dilatation of the ventricular cavity, Corneal opacity, Developmental cataract |
ORPHA:90348 |
| Roberts-Sc Phocomelia Syndrome |
|
Downslanted palpebral fissures, Cafe-au-lait spot, Ventricular septal defect, Atrial septal defec... |
OMIM:268300 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
|
OMIM:614257 |
