| Phenylketonuria |
|
Cataract, Depression, Fair hair, Self-mutilation, Irritability, Aggressive behavior, Attention de... |
OMIM:261600 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Gait disturban... |
OMIM:614170 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ob... |
ORPHA:411515 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, Telecanthus, White forelock,... |
OMIM:619947 |
| Tietz Albinism-Deafness Syndrome |
|
Heterochromia iridis, White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... |
OMIM:615516 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Depression, Astigmatism, Ataxia |
ORPHA:231183 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, Telecanthus, White forelock, Premature graying of hair |
OMIM:600193 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Microphthalmia/Coloboma 9 |
|
Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ... |
OMIM:615145 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Depression, Abnormal dental enamel morphology, Ataxia |
ORPHA:231169 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Camptodactyly of finger, Downslanted palpebral fissures, Epicant... |
ORPHA:284160 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea, Ankyloblepharon |
OMIM:611038 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Tremor, Aggressive behavior, Cachexia, Ptosis, Ataxia, Dysphagia |
ORPHA:97229 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Camptodactyly of toe, Sclerocornea, ... |
ORPHA:251038 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia |
ORPHA:67048 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Abnormality of retinal pigmentation, Heterochromia iridis, Epican... |
ORPHA:1390 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Umbilical hernia, Astigmatism, Upper eyelid coloboma, Abnormal eyelid m... |
ORPHA:2095 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| Horner Syndrome, Congenital |
|
Heterochromia iridis, Congenital Horner syndrome |
OMIM:143000 |
| Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Ptosis, Irregular hyperpigmentation |
ORPHA:1214 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Hypoplasia of the iris, Linear hyperpigmentation, Eyelid coloboma, Multiple ... |
OMIM:613001 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... |
ORPHA:98794 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Small for gestation... |
OMIM:275400 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Obesity, Blue irides, Hyperactivity, Red hair, Advanced ossification of carpal bones, ... |
OMIM:614613 |
| Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Broad-based gait, Downslanted palpebral fissures, Congenital diaphragmat... |
OMIM:300978 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Abnormality of skin pigmentation, Sclerocornea... |
ORPHA:1806 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hand tremor, Flexion contracture of digit, Self-mutilation, Reduced subcutaneous adipose tissue, ... |
ORPHA:3041 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... |
OMIM:619165 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma |
ORPHA:139471 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epican... |
OMIM:614230 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Polyphagia, Hypopigmentation of hair |
ORPHA:177910 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... |
OMIM:612109 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... |
ORPHA:411511 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, A... |
ORPHA:79476 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Al-Gazali Syndrome |
|
Osteopenia, Failure to thrive, Wrist flexion contracture, Corneal opacity, Sclerocornea |
OMIM:609465 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age, Hyperactivity, Epicanthus |
ORPHA:85288 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Failure to thrive in infancy, Gait disturbance, Abnormality of skin pigmen... |
ORPHA:834 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Gómez-López-Hernández Syndrome |
|
Ataxia, Telecanthus, Cognitive impairment, Corneal opacity |
ORPHA:1532 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Epicanthus, ... |
OMIM:309548 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Waardenburg Syndrome, Type 3 |
|
Joint contracture of the hand, Hypopigmented skin patches, Camptodactyly of finger, Premature gra... |
OMIM:148820 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea |
OMIM:615877 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal... |
ORPHA:352731 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... |
ORPHA:1791 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Epicanthus... |
ORPHA:100973 |
| Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Telecanthus, White forelock, Heterochromia... |
ORPHA:895 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Self-injurious behavior, Broad-based gait, Hypopigmentation o... |
ORPHA:72 |
| Mietens Syndrome |
|
Sclerocornea, Cataract, Microcornea, Corneal opacity |
ORPHA:2557 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor, Premature graying of hair |
ORPHA:66633 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Choroideremia |
ORPHA:99000 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Neuhauser Syndrome |
|
Osteopenia, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Epicanthus, Iri... |
OMIM:249310 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Telecanthus, Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Co... |
OMIM:619927 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Large for gestational age, Corneal opacity |
ORPHA:2432 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Mental deterioration, Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Gait disturbance, Hyperpigmentati... |
ORPHA:3214 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... |
ORPHA:3077 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted... |
OMIM:152950 |
| Noonan Syndrome 13 |
|
Highly arched eyebrow, Head-banging, Downslanted palpebral fissures, Multiple lentigines, Almond-... |
OMIM:619087 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Decreased body weight, Shallow orbits, Osteopetrosis, Generalized hypopigm... |
OMIM:617306 |
| Norrie Disease |
|
Self-injurious behavior, Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abn... |
ORPHA:649 |
| Angelman Syndrome |
|
Broad-based gait, Hypopigmentation of the skin, Fair hair, Obesity, Progressive gait ataxia, Blue... |
OMIM:105830 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Cognitive impairment, Corneal opacity, Reduced bone m... |
ORPHA:577 |
| Wolf-Hirschhorn Syndrome |
|
Highly arched eyebrow, Failure to thrive, Megalocornea, Downslanted palpebral fissures, Congenita... |
ORPHA:280 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of hair, Pers... |
ORPHA:1067 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Progressive psychomotor deterioration, Generalized lipodystrophy, Hyperinsuli... |
ORPHA:363400 |
| Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Cataract, Downslanted palpebral fissures, Abnormal dental enamel morphol... |
ORPHA:818 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Failure to thrive, Long eyelashes, Thick eyebrow, Inguinal hernia, Aggre... |
OMIM:618362 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Juvenile Huntington Disease |
|
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Deme... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Motor st... |
OMIM:619470 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Depression, Abnormal dental enamel morphology, Ataxia |
ORPHA:231178 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Hyperpigmented streaks, Failure to thrive, Lacrimal duct atresia |
OMIM:300952 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Truncal obesity, Hyperactivity |
ORPHA:75858 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Blue irides, White hair |
OMIM:250900 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Tongue thr... |
ORPHA:98795 |
| Zellweger Syndrome |
|
Cataract, Failure to thrive, Epiphyseal stippling, Upslanted palpebral fissure, Epicanthus, Poste... |
ORPHA:912 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Joint contracture of the hand, Elevated circulating long chain fatty acid concentration... |
OMIM:214110 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Joint contracture of the hand, Short palpebral fissure, Congenital contrac... |
ORPHA:352490 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Stromme Syndrome |
|
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma |
OMIM:243605 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmented skin patches, Abnormal circulating lipid c... |
ORPHA:381 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Ost... |
ORPHA:85194 |
| Short Syndrome |
|
Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Tele... |
ORPHA:3163 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Hypopigmented skin patches, Abnormal dental enamel morphology, Congenital diap... |
ORPHA:2556 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Ck Syndrome |
|
Slender build, Abnormal cortical bone morphology, Upslanted palpebral fissure, Almond-shaped palp... |
OMIM:300831 |
| Van Den Ende-Gupta Syndrome |
|
Joint contracture of the hand, Camptodactyly of 2nd-5th fingers, Elbow flexion contracture, Abnor... |
OMIM:600920 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Tremor, Corneal opacity, Ataxia, Osteoporosis, Flexion contrac... |
ORPHA:87876 |
| Acrofrontofacionasal Dysostosis |
|
Hypopigmented skin patches, Downslanted palpebral fissures, Camptodactyly of finger, Eyelid colob... |
ORPHA:1784 |
| Landau-Kleffner Syndrome |
|
Depression, Memory impairment, Gait ataxia, Emotional lability, Short attention span, Aggressive ... |
ORPHA:98818 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Bilateral ptosis, Hyperglycemia, Reduced C-peptide level, Flexion contr... |
OMIM:618856 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Ptosis, Sclerocornea, Lens coloboma, Iris coloboma, Abnormality o... |
ORPHA:42775 |
| Wagro Syndrome |
|
Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Emotional lability, Low frustration ... |
OMIM:612469 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Telecanthus, Thick eyebrow, Wh... |
ORPHA:894 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:98793 |
| Obesity Due To Sim1 Deficiency |
|
Memory impairment, Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit ... |
ORPHA:369873 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:177904 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Inguinal hernia, Choroideremia, Corneal... |
ORPHA:2719 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:177901 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the... |
ORPHA:98754 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Ptosis, Unsteady gait |
OMIM:520000 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Carpal osteolysis, Inability to walk, Metacarpal osteolysis, Metatarsal osteolysis, O... |
OMIM:166300 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Failure to thrive, Synophrys |
ORPHA:1895 |
| Erythrokeratodermia Variabilis |
|
Cataract, Irregular hyperpigmentation, Weight loss, Corneal opacity, Hypermelanotic macule, Diabe... |
ORPHA:317 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Pigmentary retinopathy, Peters anomaly, Congenital diaphragmatic hernia, Sclerocornea, ... |
OMIM:309801 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... |
ORPHA:54 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Self-injurious behavior, Highly arched eyebrow, Long palpebral fissure, Gait disturbance, Ptosis,... |
OMIM:620469 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia |
OMIM:271310 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Stiff Person Spectrum Disorder |
|
Falls, Difficulty walking, Emotional lability, Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
| Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis, Epicanthus, Cognitive impairment |
ORPHA:90646 |
| Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Failure to thrive, Rickets, Hypokalemia, Gait disturbance, ... |
ORPHA:213 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid... |
ORPHA:1794 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sparse eyebrow, Failure to thrive, Narrow palpebral fissure, Sclerocornea, Small for ge... |
OMIM:619869 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Congenital bila... |
ORPHA:73272 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Harel-Yoon Syndrome |
|
Inability to walk, Upslanted palpebral fissure, Corneal opacity, Developmental cataract, Ataxia, ... |
OMIM:617183 |
| Proteus-Like Syndrome |
|
Cataract, Irregular hyperpigmentation, Subcutaneous lipoma, Downslanted palpebral fissures, Abnor... |
ORPHA:2969 |
| Sturge-Weber Syndrome |
|
Iris coloboma, Hyperostosis, Abnormal choroid morphology, Heterochromia iridis, Conjunctival tela... |
ORPHA:3205 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Dystonia, Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Ataxi... |
ORPHA:2720 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, Prema... |
OMIM:611584 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Failure to thrive, Opacification of the corneal stroma, Epiphys... |
OMIM:214100 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... |
OMIM:608470 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Corneal opacity |
ORPHA:2370 |
| Chromosome Xq13 Duplication Syndrome |
|
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Upslanted palpebral fissu... |
OMIM:301069 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention def... |
OMIM:620141 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Large for gestational age, Epic... |
OMIM:610733 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity, Telecanthus, Ptosis, Blepharophimosis, Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Partial albinism, Telecanthus, Thick eyebrow, White forelock, Heteroch... |
OMIM:193500 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane |
ORPHA:79414 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
| Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Cataract, Failure to thrive, Fair hair, Upslanted palpebral fissure, Epica... |
OMIM:610443 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Highly arched eyebrow, Downslanted palpebral fissures, Bruxism, Short attention span, Tremor, Dec... |
OMIM:618342 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:382 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Abnormal dental e... |
ORPHA:79430 |
| Digeorge Syndrome |
|
Short palpebral fissure, Umbilical hernia, Obesity, Inguinal hernia, Hypocalcemia, Posterior embr... |
OMIM:188400 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Highly arched eyebrow, Microcornea, Failure to thrive, Downslanted palpebral fissures, Telecanthu... |
ORPHA:2995 |
| Neuroocular Syndrome 1 |
|
Hooded upper eyelid, Lens coloboma, Brushfield spots, Iris coloboma, Cataract, Microcornea, Peter... |
OMIM:619539 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Ectopia lentis, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive ... |
OMIM:238700 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Downslanted palpebral fissures, Telecanthus, Almond-shaped palpebral fissure, Aggressive behavior... |
OMIM:620292 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... |
OMIM:618718 |
| Nail-Patella Syndrome |
|
Tip-toe gait, Elbow flexion contracture, Contracture of the distal interphalangeal joint of the f... |
ORPHA:2614 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissure, Corneal opacity... |
OMIM:602562 |
| Congenital Microcoria |
|
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... |
ORPHA:566 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... |
OMIM:619827 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Gait disturbance, Corneal opacity,... |
ORPHA:1764 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Pigmentary retinopathy, Increased circulating very long-chain fatty acid concentration,... |
OMIM:614866 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Obes... |
ORPHA:177907 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Inappropriate laughter, Astigmatism, Obsessive-compulsive trait, Self-mutilation, Upslanted palpe... |
ORPHA:363686 |
| Wyburn-Mason Syndrome |
|
Iris hypopigmentation, Irritability |
ORPHA:53719 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Hyperglycemia, Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase |
OMIM:604484 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Decreased skull ossifica... |
ORPHA:3472 |
| Meckel Syndrome |
|
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea, Abnormal chorioretinal morph... |
ORPHA:564 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Alpha-Mannosidosis |
|
Cataract, Craniofacial hyperostosis, Type II diabetes mellitus, Inguinal hernia, Corneal opacity |
ORPHA:61 |
| Hermansky-Pudlak Syndrome 8 |
|
Silver-gray hair, Albinism, Myopic astigmatism, Ocular albinism, Astigmatism, Blue irides, Genera... |
OMIM:614077 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Umbilical hernia, Difficulty walking, Loss of ambulation, Epicanthus, Cognitive impairment, Corne... |
ORPHA:423461 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, ... |
ORPHA:3440 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... |
OMIM:310600 |
| Congenital Rubella Syndrome |
|
Cataract, Type I diabetes mellitus, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of th... |
ORPHA:290 |
| Microphthalmia, Syndromic 3 |
|
Sclerocornea, Cataract |
OMIM:206900 |
| Bardet-Biedl Syndrome 9 |
|
Cataract, Polydipsia, Hyperglycemia, Obesity, Astigmatism, Polyphagia, Bone spicule pigmentation ... |
OMIM:615986 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Depression, Downslanted palpebral fissures, Hyperactivity, Cognitive imp... |
OMIM:601853 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Loss of ambulation, Corneal opacity, Osteoporosis, Waddling gait |
ORPHA:2788 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Telecanthus,... |
ORPHA:2399 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Increased circulat... |
ORPHA:167 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Hypopigmentation of the skin, Ocular albinism, Tremor, G... |
OMIM:214500 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... |
ORPHA:309246 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... |
OMIM:608643 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Osteopenia, Depression, Confusion, Corneal opacity, Ataxia |
ORPHA:309288 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, White forelock,... |
OMIM:613266 |
| Short Syndrome |
|
Insulin resistance, Cataract, Insulin-resistant diabetes mellitus, Megalocornea, Hyperglycemia, T... |
OMIM:269880 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hyp... |
OMIM:106210 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Melanocytic nevus, Epiphyseal stippling, Epicanthus, Neonatal epiphyseal stipp... |
OMIM:101800 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect |
OMIM:619172 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased body mass index, Memory impairment, Decreased HDL cholesterol concentr... |
ORPHA:247585 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Developmental cataract, Corneal opacity |
OMIM:618815 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Failure to thrive, Short attention span, Aggressive behavior, Attention deficit hyper... |
OMIM:620242 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity, Upslanted palpebral fissure, Aggressive behavior, Attention deficit hyperactivity disord... |
OMIM:301013 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Neurofibromatosis Type 1 |
|
Ataxia, Cataract, Inguinal freckling, Memory impairment, Axillary freckling, Hypopigmented skin p... |
ORPHA:636 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
| Gm1 Gangliosidosis |
|
Ataxia, Coarse metaphyseal trabecularization, Failure to thrive, Generalized dystonia, Camptodact... |
ORPHA:354 |
| Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Corneal opacity, Camptodactyly of finger, Megalocornea |
ORPHA:2741 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Corneal opacity |
ORPHA:281090 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Infantile Neuroaxonal Dystrophy |
|
Mental deterioration, Short attention span, Emotional lability, Dystonia, Unsteady gait, Gait dis... |
ORPHA:35069 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Astigmatism, Low frustration... |
ORPHA:168491 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Confus... |
ORPHA:100924 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Sialidosis Type 1 |
|
Cataract, Tremor, Hernia, Gait disturbance, Corneal opacity, Ataxia |
ORPHA:812 |
| Stiff-Person Syndrome |
|
Depression, Vitiligo, Opisthotonus, Exaggerated startle response, Diabetes mellitus |
OMIM:184850 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Telecanthus, Short attention span, Upslanted palpebral fissure, Long palpebral ... |
ORPHA:438216 |
| Juvenile Sialidosis Type 2 |
|
Ataxia, Cataract, Umbilical hernia, Inguinal hernia, Dysmetria, Loss of ambulation, Corneal opaci... |
ORPHA:93399 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, Downslanted palpebral fissures, Obesity, Low frus... |
ORPHA:163681 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Gait ataxia, Upslanted palpebral fissure, Corneal opacity, Spastic gait |
ORPHA:496790 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyebrow, Failure to thrive in infancy, Upslanted palpebral fissure, Sparse eyela... |
OMIM:216340 |
| Duane Retraction Syndrome |
|
Blepharospasm, Microcornea, Short palpebral fissure, Irregular hyperpigmentation, Hypopigmented s... |
ORPHA:233 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Mottled pigmentation, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycem... |
OMIM:608612 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Horizontal eyebrow, Telecanthus, Chorioretinal atrophy, Epicanthus, Iris transi... |
OMIM:267750 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Cachexia, Ptosis, Hyperactivity, Abnormal circulating creatine concentration, At... |
ORPHA:52503 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Failure to thrive, Irritability, Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Emotional lability, Self-mutilation, Recurrent corneal erosions, Hyp... |
OMIM:256800 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Broad-based gait, Failure to thrive, Stereotypical body rocking, Thick eye... |
OMIM:617865 |
| Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Albinism, Ocular albinism |
OMIM:614074 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... |
ORPHA:449291 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Elevated circulating creatine kinase concentration, Corneal opacity |
OMIM:613153 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis, Small for gestational age |
OMIM:618857 |
| Distal Deletion 6P |
|
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures... |
ORPHA:96125 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelash... |
ORPHA:1234 |
| Williams Syndrome |
|
Megalocornea, Type II diabetes mellitus, Overfriendliness, Epicanthus, Posterior embryotoxon, Ble... |
ORPHA:904 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Decreased body weight, Ptosis, Hyperactivity |
OMIM:608747 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Irritability, Hyperactivi... |
OMIM:620423 |
| Wilson Disease |
|
Depression, Failure to thrive, Kayser-Fleischer ring, Difficulty walking, Increased body weight, ... |
ORPHA:905 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Epicanthus, Exaggerated startle response, Agi... |
OMIM:618056 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Telecanthus, Corneal opacity, Craniosynostosis, Developmental glaucoma |
ORPHA:1064 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Loss of ambulation, Ataxia, Dysphagia, Cataract, Inguinal hernia, Hype... |
ORPHA:581 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Inability to walk, Short attention span, Irritability, Joint contracture, Exag... |
OMIM:617864 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Microcornea, Failure to thrive, Orbital cyst, Sclerocornea |
OMIM:607932 |
| Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Megalocornea, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Inguin... |
ORPHA:2409 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis |
OMIM:602400 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Downslanted palpebral fissures, Telecanthus, Astigmatism, Elevated circulating creatine kinase co... |
OMIM:301056 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Depression, Memory impairment, Laryngeal dystonia, Inability... |
ORPHA:845 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... |
OMIM:151660 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating... |
OMIM:612716 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Mottled pigmentation, Increased adipose tissue around the neck, Increased facial adip... |
OMIM:248370 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Blepharospasm, Mental deterioration, Depression, Pigmentary retinopathy, Akinesia, O... |
OMIM:234200 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, ... |
ORPHA:163746 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
OMIM:609136 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Hypoglycemia, Difficulty walking, Gait ataxia, Hyperprolinemia, Epicanthus, Ptosis, Hyperalaninem... |
OMIM:620451 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Grayish enamel, Hernia, Gait disturbance, Cognitive impairment... |
ORPHA:582 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Ptosis, Lester's sign, Antecubital pterygium, Microphakia |
OMIM:161200 |
| Mucolipidosis Type Iv |
|
Ataxia, Gait disturbance, Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
| Williams-Beuren Syndrome |
|
Osteopenia, Umbilical hernia, Failure to thrive in infancy, Premature graying of hair, Obesity, G... |
OMIM:194050 |
| De Barsy Syndrome |
|
Cataract, Osteopenia, Failure to thrive, Umbilical hernia, Downslanted palpebral fissures, Inguin... |
ORPHA:2962 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... |
ORPHA:98957 |
| Congenital Disorder Of Deglycosylation 1 |
|
Athetosis, Oral-pharyngeal dysphagia, Action tremor, Dysmetria, Decreased body weight, Ptosis, Hy... |
OMIM:615273 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional lability, Hypokalemia, Ab... |
OMIM:219090 |
| Incontinentia Pigmenti |
|
Cataract, Irregular hyperpigmentation, Keratitis, Hypopigmented skin patches, Umbilical hernia, C... |
ORPHA:464 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Osteopenia, Interphalangeal joint contracture of finger, Peripheral op... |
OMIM:259600 |
| Sjogren-Larsson Syndrome |
|
Flexion contracture, Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Eyelid coloboma, Congenital diaphragmatic hernia, Ptosis, Corneal opa... |
ORPHA:1647 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity |
OMIM:618961 |
| Hurler-Scheie Syndrome |
|
Hernia, Corneal opacity |
ORPHA:93476 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Depression, Exaggerated startle response |
OMIM:620114 |
| Legius Syndrome |
|
Cataract, Inguinal freckling, Xanthelasma, Short attention span, Attention deficit hyperactivity ... |
ORPHA:137605 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Mental deterioration, Memory impairment, Difficulty walking, Inability to walk, Confusion, Hamstr... |
ORPHA:139396 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Mental deterioration, Gait ataxia, Emotional lability, Dysmetria, Intention tremor, Short attenti... |
OMIM:610217 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Abnormal nasolacrimal system morphology, Multiple lipomas, ... |
ORPHA:2396 |
| Multiple Sulfatase Deficiency |
|
Cataract, Rapid neurologic deterioration, Thick eyebrow, Abnormality of retinal pigmentation, Cor... |
ORPHA:585 |
| Hyperekplexia 2 |
|
Hiatus hernia, Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Depression, Hyperglycemia, Increased body weight, Abdominal obesity, Osteoporosis |
OMIM:615954 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Long eyelashes, Hip contracture, Ptosis, Dysphagia, Exaggerated startl... |
OMIM:617301 |
| Hurler Syndrome |
|
Cranial hyperostosis, Umbilical hernia, Bilateral ptosis, Calvarial hyperostosis, Inguinal hernia... |
OMIM:607014 |
| Focal Dermal Hypoplasia |
|
Ectopia lentis, Coarse metaphyseal trabecularization, Chorioretinal coloboma, Hypoplasia of the i... |
ORPHA:2092 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... |
ORPHA:650 |
| Alpha-Mannosidosis, Infantile Form |
|
Cataract, Highly arched eyebrow, Depression, Osteopenia, Cranial hyperostosis, Umbilical hernia, ... |
ORPHA:309282 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Cataract, Umbilical hernia, Inguinal hernia, Dysmetria, Developmental cataract, Corneal o... |
ORPHA:93400 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Mental deterioration, Contractures of the large joints, Umbilical herni... |
ORPHA:580 |
| Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Inability to walk, Thick eyebrow, Upslanted palpebral f... |
ORPHA:488632 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Chorioretinal dysplasi... |
ORPHA:899 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Chorioretinal coloboma, Hyperbilirubinemia, Emotional lability, Decreased body ... |
OMIM:619475 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Fair hair, Telecanthus, Inguinal hernia, Sparse eyelashes, Blue irides, Blepharop... |
OMIM:129900 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Sparse eyebrow, Long eyelashes, Aggressive behavior, Attention deficit hyperact... |
ORPHA:495875 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
| Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
| Choreoacanthocytosis |
|
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... |
ORPHA:2388 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Cataract, Hyperpigmentation of the skin, Corneal opacity |
ORPHA:1867 |
| Vici Syndrome |
|
Cataract, Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Elevated circulating ... |
OMIM:242840 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Inguinal hernia, Corneal opacity, Ataxia, Osteoporosis, Opacification of the corn... |
OMIM:253010 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyebrow, Fair hair, Sparse eyelashes, Blue irides, Blepharophimosis, Generalized hypopigme... |
OMIM:604292 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| Tyrosinemia Type 2 |
|
Ataxia, Tremor, Corneal opacity |
ORPHA:28378 |
| Hermansky-Pudlak Syndrome 6 |
|
Albinism, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination... |
OMIM:614075 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Hernia, Osteopenia, Developmental cataract, Corneal opacity |
OMIM:616603 |
| Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Cataract, Microcornea, Nasolacrimal duct obstruction,... |
ORPHA:141099 |
| Premature Aging Syndrome, Penttinen Type |
|
Keloids, Failure to thrive, Corneal stromal edema, Flexion contracture of finger, Shallow orbits,... |
OMIM:601812 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Hypocalcemia, Astigm... |
ORPHA:2323 |
| Noonan Syndrome |
|
Osteopenia, Downslanted palpebral fissures, Melanocytic nevus, Ptosis, Blue irides |
ORPHA:648 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Downslanted palpebral fissures, Multiple lentigines, Large for gestational age... |
OMIM:607721 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Osteomalacia, Hypophosphatemia, Chorioretinal dysplasia, Motor stereotypy, Self-inju... |
ORPHA:534 |
| Wilson Disease |
|
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Chondrocalcinosis, Glycosuria, Kayser-Fleische... |
OMIM:277900 |
| Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Flexion contracture, Exaggerated startle response |
OMIM:609541 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Failure to thrive, Exaggerated startle response |
OMIM:618201 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Blepharophimosis, Ocular albinism |
ORPHA:1352 |
| Farber Disease |
|
Failure to thrive, Corneal opacity, Osteoporosis, Flexion contracture, Opacification of the corne... |
ORPHA:333 |
| Moebius Syndrome |
|
Epicanthus, Ptosis, Multiple cafe-au-lait spots, Dysphagia, Corneal opacity, Arthrogryposis multi... |
ORPHA:570 |
| Developmental And Epileptic Encephalopathy 49 |
|
Long eyelashes, Thick eyebrow, Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Hypopigmentation of the skin, Failure to thrive, Atrophic scars, Scarring, Gener... |
ORPHA:79396 |
| Xeroderma Pigmentosum |
|
Cataract, Craniofacial hyperostosis, Ankyloblepharon, Keratitis, Failure to thrive, Hypopigmented... |
ORPHA:910 |
| Fabry Disease |
|
Cataract, Depression, Abnormal circulating lipid concentration, Anorexia, Hyperlipidemia, Conjunc... |
ORPHA:324 |
| Trisomy 8P |
|
Upslanted palpebral fissure, Astigmatism, Multiple joint contractures, Heterochromia iridis, Hernia |
ORPHA:264450 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Fucosidosis |
|
Lipoatrophy, Failure to thrive, Corneal opacity |
ORPHA:349 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Multiple Sulfatase Deficiency |
|
Ataxia, Rapid neurologic deterioration, Corneal opacity |
OMIM:272200 |
| Olmsted Syndrome 1 |
|
Flexion contracture, Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Failure to thrive, Astigmatism, Attention deficit hyperactivity disord... |
ORPHA:464311 |
| 3Mc Syndrome 3 |
|
Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus |
OMIM:248340 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Mucopolysaccharidosis Type 7 |
|
Umbilical hernia, Inguinal hernia, Epiphyseal stippling, Corneal opacity |
ORPHA:584 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin, Hypophosphatemic rickets, Osteopenia, Corneal opacity |
OMIM:163200 |
| Proteus Syndrome |
|
Chorioretinal coloboma, Cachexia, Calvarial hyperostosis, Cataract, Downslanted palpebral fissure... |
ORPHA:744 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacity, Cafe-au-l... |
ORPHA:364577 |
| Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
| Gaucher Disease |
|
Osteopenia, Depression, Decreased HDL cholesterol concentration, Increased circulating ferritin c... |
ORPHA:355 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Exaggerated startle response |
OMIM:272800 |
| Hurler-Scheie Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the... |
OMIM:607015 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Hurler Syndrome |
|
Depression, Camptodactyly of finger, Thick eyebrow, Hernia, Abnormality of skin pigmentation, Cor... |
ORPHA:93473 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Multiple lentigines, Hyperlipidemia, Corneal opacity, Hypermelanotic macule, S... |
ORPHA:1830 |
| Hermansky-Pudlak Syndrome 2 |
|
Fair hair, Ocular albinism, Upslanted palpebral fissure, Aberrant melanosome maturation, Epicanth... |
OMIM:608233 |
| Oculoectodermal Syndrome |
|
Hyperpigmented streaks, Microcornea, Astigmatism, Eyelid coloboma, Chorioretinal atrophy, Epicant... |
OMIM:600268 |
| Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
| Down Syndrome |
|
Epicanthus, Brushfield spots, Upslanted palpebral fissure |
OMIM:190685 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Dystonia, Ocular albinism |
OMIM:617050 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Mental deterioration, Keratitis, Failure to thrive, Camptodactyly of finger, Abnormal dental enam... |
ORPHA:2273 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Multiple joint contractures, Astigmatism, Gait disturbance, Hyperactivity, Cor... |
ORPHA:464306 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Posterior subcapsular cataract, Megalocornea, Elbow flexion contracture, Atrophic sca... |
ORPHA:536471 |
| Retinoblastoma |
|
Cellulitis, Hypopyon, Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis |
ORPHA:790 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hand tremor, Downslanted palpebral fissures, Long eyelashes, Gait ataxia, Astig... |
OMIM:614756 |
| Wiedemann-Rautenstrauch Syndrome |
|
Slender build, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Action tremor, Ata... |
ORPHA:3455 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
| Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Thick eyebrow, Epicanthus, Corneal opacity, Flexion contracture |
OMIM:253220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Flexion contracture, Exaggerated startle response, Elevated circulating creatine kinase... |
OMIM:253800 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Failure to thrive, Cognitive impairment, Exaggerated startle re... |
OMIM:617527 |
| Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Cryptophthalmos, Absent eyelashes, Absent eyebrow, Omp... |
ORPHA:920 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... |
ORPHA:425 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypotriglyceridemia, Ectopia pupillae, Abnormality of retinal pigmentation, Corneal opacity, Lens... |
ORPHA:85167 |
| Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Peters anomaly, Congenital contracture, Megalocornea, Elevated circulating creatine kin... |
OMIM:236670 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Cataract, Horizontal eyebrow, Failure to thrive, Camptodactyly of finger... |
ORPHA:1606 |
| Hyperekplexia 3 |
|
Hiatus hernia, Exaggerated startle response |
OMIM:614618 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Thick eyebrow, Hyperactivity, Ataxia |
OMIM:620047 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia |
OMIM:268800 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dementia, Dystonia, Exaggerated startle response |
OMIM:272750 |
| Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Umbilical hernia |
OMIM:149400 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... |
OMIM:615812 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Thick eyebrow, Irritability, Epiblepharon, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Kindler Epidermolysis Bullosa |
|
Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormalit... |
ORPHA:2908 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Contractures of the large joints, Exaggerated startle response, Dystonia, Impa... |
ORPHA:521426 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Shuffling gait, Nocturnal lagophthalmos, Absence of subcutaneous fat, Reduced... |
ORPHA:740 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Downslanted palpebral fissures, Epicanthus, Multiple cafe-au-lait spots, Abnormality of... |
ORPHA:1052 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Limb dystonia, Astigmatism, Corneal neovas... |
OMIM:175780 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Chorioretinal coloboma, Corneal opacity |
OMIM:120200 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... |
OMIM:221800 |
| Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
| Mosaic Trisomy 9 |
|
Upslanted palpebral fissure, Camptodactyly of finger, Corneal opacity |
ORPHA:99776 |
| Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, Hypopigmented skin patches, Camptodactyly of finger, Corneal opacit... |
ORPHA:96061 |
| Osteogenesis Imperfecta |
|
Ataxia, Dentinogenesis imperfecta, Osteopenia, Umbilical hernia, Abnormal dental enamel morpholog... |
ORPHA:666 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Chime Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Osteolysis |
ORPHA:3474 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mucopolysaccharidosis Type 1 |
|
Hernia, Inguinal hernia, Corneal opacity |
ORPHA:579 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short palpebral fissure, Failure to thrive, Thin eyebrow, Telecanthus, Corneal opacity, Cafe-au-l... |
OMIM:608670 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Corneal opacity |
ORPHA:2059 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Mental deterioration, Umbilical hernia, Camptodactyly of finger, Short attention span, Inguinal h... |
ORPHA:217093 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Eversion of lateral third of lower eyelids, Decreased circulating iron concentration, Broad-based... |
ORPHA:438213 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Broad-based gait, Limb ataxia, Cachexia, Ptosis, Corneal opacity |
ORPHA:2072 |
| Tangier Disease |
|
Ectropion, Hypocholesterolemia, Hypertriglyceridemia, Corneal opacity |
ORPHA:31150 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Mental deterioration, Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Abnormality of ... |
ORPHA:217085 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Failure to thrive, Corneal opacity |
OMIM:620519 |
| Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Umbilical hernia, Inguinal hernia, Corneal opacity |
OMIM:253200 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Inguinal hernia, Hernia, Ptosis, Developmental cataract, Corneal opacity |
ORPHA:90348 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Exaggerated startle response |
ORPHA:79255 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Shallow orbits, Corneal opacity |
OMIM:150250 |
| Peters Plus Syndrome |
|
Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Umbilical hernia, Inguinal hernia... |
ORPHA:709 |
| Fraser Syndrome 1 |
|
Lacrimal duct aplasia, Cryptophthalmos, Absent eyelashes, Upper eyelid coloboma, Absent eyebrow, ... |
OMIM:219000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Ptosis, Corneal opacity |
OMIM:274000 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Downslanted palpebral fissures, Telecanthus, Epicanthus, Attention deficit hyperactivity disorder... |
OMIM:619522 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Ventral hernia, Corneal opacity, Lens subluxation, Iris coloboma |
ORPHA:2369 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Ankle flexion contracture, Downslanted palpebral fissures, Elbow flexion contracture, E... |
OMIM:268300 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly |
OMIM:614257 |
