Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys... |
ORPHA:3177 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Ataxia, Hemiplegia/hemiparesis, Hypogonadism, Spastic paraparesis |
ORPHA:2815 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity |
ORPHA:1980 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Dysequilibrium Syndrome |
|
Cerebral palsy, Cataract, Ataxia |
ORPHA:1766 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Progressive spastic paraplegia |
ORPHA:401830 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Abnormality of the liver, ... |
OMIM:614307 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Cataract 11, Multiple Types |
|
Hypertonia, Chorea, Cataract, Developmental cataract |
OMIM:610623 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea, Cataract |
OMIM:601372 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Posterior embryotoxon, Iris... |
ORPHA:1473 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior |
ORPHA:208441 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Corneal opacity, Cleft palate, Abnormal aortic valve morphology |
ORPHA:577 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Mucolipidosis Iv |
|
Corneal opacity, Babinski sign, Spastic tetraplegia, Hypergastrinemia, Opacification of the corne... |
OMIM:252650 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Splen... |
ORPHA:93476 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Ataxia |
ORPHA:1532 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract, Hypogonadism, Progressive spasticity |
ORPHA:2528 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Dilated cardiomyopathy, Developmental cataract, Micropenis, Hypertr... |
OMIM:618815 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Jaundice, Glossoptosis |
OMIM:614876 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Astigmatism, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spast... |
OMIM:617284 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Thrombocytopenia, Splenomegal... |
ORPHA:290 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Cataract, Ataxia |
OMIM:278780 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Spasticity, Cataract, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:620312 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Ataxia, Tremor, Splenomegaly |
ORPHA:87876 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb spasticity, Cataract, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... |
OMIM:614409 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Acu... |
ORPHA:281090 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity, Abnormal testis morphology |
ORPHA:317 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Developmental cataract |
ORPHA:1368 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... |
OMIM:194072 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
4H Leukodystrophy |
|
Cataract, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation... |
ORPHA:289494 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Developmental cataract, Dystonia, Spasticity |
OMIM:617183 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Lower limb spasticity, Cataract, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic dysarthr... |
ORPHA:320391 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Spasticity, Cataract, Micropenis |
OMIM:610156 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Alpha-Mannosidosis |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Narrow palate, Macroglossia |
ORPHA:61 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Gait ataxia, Delayed puberty, Spasticity, Spastic gait |
ORPHA:496790 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebellar ataxia associate... |
OMIM:224050 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Hypogonadotropic hypogonadism, Abnormal pyramidal sign, Dysmetria, Microcornea,... |
ORPHA:48431 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... |
ORPHA:79239 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot, ... |
ORPHA:1381 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Spastic diplegia, Developmental cataract |
OMIM:619420 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Tremor, Splenomegaly, Slurred speech, Myoclonus |
ORPHA:812 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Hepatosplenomegaly, Abnormal heart mo... |
ORPHA:93399 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Ataxia, Congenital hepatic fibrosis, Cryptorchidism, Type II diabe... |
ORPHA:2377 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Cataract, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria,... |
OMIM:614877 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Slurred speech, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Ankle clonu... |
ORPHA:284289 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Rigidity, Anisocoria, Pseudoexfoliation, Pigment deposition i... |
OMIM:177650 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Cataract, Postural tremor, Babinski sign, Spastic paraplegia, Upper limb s... |
OMIM:270800 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Cataract, Corneal opacity |
OMIM:613153 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Corneal opacity,... |
ORPHA:912 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Cataract, Ataxia, Premature ovarian insufficiency |
ORPHA:3156 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism |
OMIM:308100 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Cataract, Premature ovarian insufficiency, Babinski sign, Pseudobulbar par... |
ORPHA:101006 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossia, Re... |
ORPHA:309288 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Cleft palate |
OMIM:120433 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ataxia, Premature ovarian insufficiency, Increased circulating gonadotropin level, ... |
ORPHA:243 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... |
OMIM:616719 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Corneal opacity, Stage 5 chronic kidney disease, Proteinuria |
OMIM:166300 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Sjogren-Larsson Syndrome |
|
Spasticity, Astigmatism, Opacification of the corneal epithelium, Spastic paraparesis |
OMIM:270200 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Dysfunction of lateral corticospinal tr... |
ORPHA:893 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Ataxia, Dysmetria, Hepatosplenomegaly, Developmental cat... |
ORPHA:93400 |
Gm1-Gangliosidosis, Type Iii |
|
Slurred speech, Ataxia, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Tremor, Cholestatic liver ... |
ORPHA:79095 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Hypospadias, Abnormality of the abdominal organs, Developmental glaucoma, High, ... |
ORPHA:2409 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic t... |
ORPHA:349 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Scheie Syndrome |
|
Hepatomegaly, Cerebral palsy, Corneal opacity, Splenomegaly, Spastic paraparesis |
ORPHA:93474 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:617145 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Axil... |
OMIM:619339 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea... |
ORPHA:650 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm |
ORPHA:523 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Ataxia, Slurred speech, Athetosis, Abnormal cornea morphology, Dystonia, Spasticity |
ORPHA:357058 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Cataract, Impotence, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Babinski sign, Dysmetria, Spasticity, Subcapsular cataract, Intention tremor |
OMIM:612674 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Spasticity, Cataract, Cryptorchidism |
OMIM:613730 |
Cystinosis |
|
Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Malabsorption, Renal tubu... |
ORPHA:213 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Cryptorchidism, Ocular albinism, Abnormal pyramidal sign, Spas... |
ORPHA:2719 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Bilateral rena... |
OMIM:243605 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Corneal opacity, Hypospadias, Megarectum, Micropenis, Le... |
OMIM:301056 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insuffi... |
ORPHA:79237 |
Joubert Syndrome 9 |
|
Oculomotor apraxia, Cataract, Hepatic fibrosis, Astigmatism |
OMIM:612285 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis |
ORPHA:66633 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:139471 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Galactosemia I |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotrans... |
OMIM:230400 |
Brachyolmia Type 1, Toledo Type |
|
Increased urinary disaccharide excretion, Opacification of the corneal stroma |
OMIM:271630 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Mucopolysacchariduria |
ORPHA:585 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... |
OMIM:215250 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Hyp... |
ORPHA:2059 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Corneal opacity, Dextrocardia, Abnormal heart val... |
ORPHA:99776 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Hyperinsulinemia,... |
ORPHA:363400 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Hypoplasia ... |
ORPHA:3163 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia |
ORPHA:1234 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... |
OMIM:256550 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Hypoplastic female external genit... |
OMIM:612469 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Sclerocornea, Esophageal atresia, Tr... |
ORPHA:77298 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Ataxia, Tremor, Splenomegaly, Hepatosplenomegaly, Abnormal... |
ORPHA:354 |
Stiff Skin Syndrome |
|
Gastroesophageal reflux, Cataract, Bicuspid aortic valve |
OMIM:184900 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Cataract, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy... |
ORPHA:1830 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis |
ORPHA:1064 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... |
ORPHA:1839 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Cleft palate, Ectopic anus, High palate, Aniri... |
ORPHA:251038 |
Farber Disease |
|
Elevated hepatic transaminase, Corneal opacity, Intrahepatic cholestasis with episodic jaundice, ... |
ORPHA:333 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cleft palate |
ORPHA:1794 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils... |
OMIM:607014 |
Mucolipidosis Type Iv |
|
Corneal opacity, Ataxia |
ORPHA:578 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... |
OMIM:607015 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, High palate, Opacification o... |
OMIM:251290 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Submucous cleft hard palate, Cleft palate, Microc... |
ORPHA:899 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Iris hypopigmentation |
ORPHA:284160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cataract, Tremor, Cryptorchidism, Jaundice, Hypertonia |
OMIM:608093 |
Oculocerebrocutaneous Syndrome |
|
Hemiplegia/hemiparesis, Corneal opacity, Iris coloboma, Cryptorchidism |
ORPHA:1647 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly, Spasticity |
OMIM:272200 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Corneal opacity, Proteinuria |
ORPHA:1765 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Dystoni... |
OMIM:607694 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Cleft palate, A... |
OMIM:309801 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys... |
ORPHA:2357 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Malabsorption, Sple... |
ORPHA:579 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy |
OMIM:616881 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Cleft palate... |
OMIM:214110 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Abnormal heart morphology, Microcornea, Opacification of the corneal ... |
OMIM:601499 |
Classic Phenylketonuria |
|
Cataract, Tremor, Paraplegia, Hypertonia, Hemiplegia |
ORPHA:79254 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract |
OMIM:615184 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis, Dystonia |
ORPHA:369942 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Wilson Disease |
|
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic stea... |
OMIM:277900 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switc... |
OMIM:614878 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia |
ORPHA:411777 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Cataract, Hypergonadotropic hypogonadism, Parkinsonism, Premature ovarian insuffi... |
OMIM:157640 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Congenital... |
ORPHA:2323 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Tangier Disease |
|
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... |
ORPHA:31150 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cataract, Hypothyroidism, Abnormal pyramidal sign, Spasticity, Opi... |
ORPHA:445038 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, High palate, Axenfeld anomaly, Opacification of t... |
OMIM:612582 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Unilateral renal agenesis, Developmental cataract |
OMIM:616603 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatitis |
ORPHA:584 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis |
OMIM:607371 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Cataract, Hoffmann sign, Babinski sign, Spastic paraplegia... |
OMIM:601162 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Adenoiditis, Splenomegaly, Malabsorption, ... |
ORPHA:581 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, ... |
ORPHA:1764 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Abnormality of the tonsils, Splen... |
ORPHA:93473 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Renal insufficiency, Cataract, Corn... |
ORPHA:324 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Wolfram Syndrome 1 |
|
Cataract, Ataxia, Diabetes mellitus, Diabetes insipidus, Tremor, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Involuntary movements, Chorea, Dysm... |
OMIM:615273 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Cataract, Corneal opacity, Cleft palate, Acut... |
ORPHA:1052 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Heparan sulfate excretion in urin... |
OMIM:253220 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Fasciculations, Limb hypertonia |
OMIM:620327 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae |
OMIM:615877 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Zonular cataract, Hyperkinetic movements... |
OMIM:616271 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion... |
OMIM:253010 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Abnormal es... |
OMIM:226600 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... |
OMIM:229200 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Corneal opacity, Peters anomaly |
OMIM:120200 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Corneal opacity, Ventricular septal defect, Ectopia lentis, Horsesh... |
ORPHA:2092 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, Opacification... |
ORPHA:583 |
Al-Gazali Syndrome |
|
Corneal opacity, Hydronephrosis, Sclerocornea |
OMIM:609465 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Sclerocornea, Hypoplasia of the iris, Subvalvula... |
OMIM:613001 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Warburg Micro Syndrome 2 |
|
Cataract, Small scrotum, Cryptorchidism, Spastic diplegia, Developmental cataract, Microcornea, H... |
OMIM:614225 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Corneal opacity |
OMIM:163200 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
3Mc Syndrome 3 |
|
Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Cataract, Pyloric stenosis, Developmental cataract, Neutropenia, Meckel diverticulum |
OMIM:616395 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Nephropathy |
OMIM:247410 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Diabetes mellitus, Tremor, Ri... |
ORPHA:48818 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D... |
OMIM:614381 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... |
ORPHA:564 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Intestinal malrotation, ... |
ORPHA:2538 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Corneal opacity, Hypospadias, Unilateral renal agenesis, Pyloric steno... |
ORPHA:464306 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Cataract, Female hypogonadism, Premature ovarian in... |
OMIM:240300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Decreased response to growth hormone stimulation test, Opacification of the c... |
OMIM:601853 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Cataract, Ataxia, Dystonia, Tremor, ... |
OMIM:615356 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Parkinsonism with favorable respon... |
ORPHA:240071 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Furrowed tongue, Melena, Hematuria, ... |
OMIM:158310 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Corneal opacity, Hypospadias, Unilateral renal agenesis, Renal cyst, M... |
ORPHA:464311 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Polycystic ovaries, Hemiplegia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Babinski sign, Polycoria, Developmental cataract, Microcornea, Hypopla... |
OMIM:175780 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ureteral duplication, Cataract, Corneal opacity, Ventricular septal defect, ... |
OMIM:274000 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Athetosis, Progressive cerebellar ataxia |
ORPHA:2962 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Clonus, ... |
ORPHA:649 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cataract, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, Esophageal neoplasm, Chro... |
ORPHA:1018 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Pete... |
OMIM:236670 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Microcornea, Myoclonus, Op... |
ORPHA:46059 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Microcornea, High palate, Transposition of the great arte... |
OMIM:201000 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Astigmatism, Uro... |
OMIM:618820 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inf... |
ORPHA:2908 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Slurre... |
ORPHA:495875 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Pancytopenia, Corneal opacity, Abnormality of the spleen, Aortic valv... |
ORPHA:2072 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Keratoconjunctivitis sicc... |
ORPHA:779 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Pyloric stenosis |
ORPHA:664 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... |
ORPHA:1454 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy... |
ORPHA:85448 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Mosaic Trisomy 8 |
|
Corneal opacity, Cleft palate, High palate, Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticit... |
ORPHA:2396 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
Microphthalmia, Syndromic 3 |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Sclerocornea, Anterior pituitary hypoplasia... |
OMIM:206900 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart... |
OMIM:614866 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cleft palate, High palate, Micropenis |
OMIM:614230 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Corneal ... |
ORPHA:355 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spastic... |
OMIM:278730 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Ventricular septal defect, Hypospadias, ... |
OMIM:214100 |
Knobloch Syndrome |
|
Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bi... |
ORPHA:1571 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine, Cardiomyopathy,... |
OMIM:253200 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossia, As... |
ORPHA:309282 |
Limb Body Wall Complex |
|
Corneal opacity, Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality ... |
ORPHA:2369 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Hemiplegia/hemiparesis, Spasticity |
ORPHA:464 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:242900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Corneal opacity, High, narrow palate, Macroglossia... |
ORPHA:488632 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan su... |
ORPHA:217085 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Ataxia,... |
ORPHA:478 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Cataract, Ataxia, Splenomegaly, Jaundice, Nuclear cataract, Hypertonia, Spasticity |
OMIM:608885 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... |
ORPHA:909 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Moebius Syndrome |
|
Breast aplasia, Corneal opacity, Hypogonadotropic hypogonadism |
ORPHA:570 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan su... |
ORPHA:217093 |
Alg9-Cdg |
|
Hepatomegaly, Lower limb spasticity, Torticollis, Periportal fibrosis, Bicornuate uterus, Hypopla... |
ORPHA:79328 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia |
OMIM:226730 |
Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Cleft palate, Acute leukemia, Tr... |
ORPHA:3474 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Mednik Syndrome |
|
Cataract, Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis |
OMIM:610125 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Nephrocalcinosis, Gast... |
ORPHA:904 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, Dilated cardio... |
ORPHA:2556 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic dysarthria, Lower... |
ORPHA:447753 |
Dyggve-Melchior-Clausen Disease |
|
Frequent falls, Corneal opacity, Spastic tetraparesis |
ORPHA:239 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease... |
OMIM:308940 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence |
OMIM:146500 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse |
OMIM:259600 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Increased blood urea nitrogen, Macrotia, Abno... |
ORPHA:90321 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal opacity, Corneal erosion, Ambiguous genitalia, Abnormality of female... |
ORPHA:920 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercalciuria, Renal insufficiency, Cataract, Corneal opacity, Proteinuria, Malabsorption, Abnor... |
ORPHA:534 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... |
ORPHA:401973 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Extrapyrami... |
ORPHA:67036 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Abnormal heart valve morphology, Posterior subcapsular cataract, Cleft palate, A... |
ORPHA:536471 |
Mirage Syndrome |
|
Hypospadias, Esophageal stricture, Anemia, Leukopenia, Gastroesophageal reflux, Microphallus, Hyp... |
OMIM:617053 |
Peters Plus Syndrome |
|
Intestinal fistula, Ureteral duplication, Cataract, Corneal opacity, Multicystic kidney dysplasia... |
ORPHA:709 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Hypoplastic spleen, Re... |
OMIM:601186 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Elevated circulating thyroid-stimulating hormone concentration, Corneal op... |
OMIM:601812 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microglossia, Corneal opacity, Cleft palate |
ORPHA:364577 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hiatus hernia, Hypoplasi... |
OMIM:251300 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Slurred spee... |
OMIM:208900 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left ventricle, High palate, Atrial s... |
OMIM:619869 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Precocious puberty, Cryptorchidism, Abnormality of the endocri... |
ORPHA:636 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Cataract, Ventricular septal defect, Aga... |
ORPHA:818 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon... |
OMIM:229850 |
Proboscis Lateralis |
|
Cataract, Ventricular septal defect, Corneal opacity, Unilateral renal agenesis, Microcornea, Ure... |
ORPHA:141099 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Sclerocornea |
OMIM:300952 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma, Chondroitin s... |
OMIM:253000 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Cryptorchidism, Spasticity, Abnormality... |
ORPHA:910 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... |
OMIM:118450 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricular cavity, Pyelonephritis,... |
ORPHA:90348 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Corneal opacity, Ventricular septal ... |
OMIM:608670 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... |
ORPHA:379 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cyst, Cleft palate, Renal cortical cysts, Opac... |
ORPHA:1692 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P... |
OMIM:606002 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Smooth tongue, Anemia |
ORPHA:79396 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Intestinal malrotation, Pylori... |
ORPHA:2308 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermo... |
OMIM:600268 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Lathosterolosis |
|
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol... |
OMIM:607330 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Corneal opacity, Hypospadias, Renal hypoplasia, Cleft palate... |
OMIM:219000 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Corneal opacity, Cleft palate |
OMIM:150250 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Ataxia, Hypogonadotropic hypogonadism, Action tremor, Tremor, Hypospad... |
ORPHA:3455 |
Cockayne Syndrome A |
|
Hepatomegaly, Cataract, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Irregular menstruation, Thy... |
OMIM:216400 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... |
ORPHA:79403 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Wolf-Hirschhorn Syndrome |
|
Ataxia, Hypospadias, Sclerocornea, Cryptorchidism, Abnormality of the gallbladder, Abdominal situ... |
ORPHA:280 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Developmental cataract, Microcornea, ... |
OMIM:133540 |
Digeorge Syndrome |
|
Renal insufficiency, Ventricular septal defect, Sclerocornea, Unilateral renal agenesis, Thromboc... |
OMIM:188400 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Involuntary movements, Abnormal scrotal rugation, Cryptorchidism, Micropenis... |
ORPHA:284339 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting... |
ORPHA:47159 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit... |
OMIM:263650 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Mucopolysacchariduria, Opacification of t... |
OMIM:252500 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, High, narrow palate... |
ORPHA:3472 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Cataract, Pyloric stenosis, Dilatation of the ventricular cavity, Pyelonephritis, Urethral divert... |
ORPHA:90349 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Abnormality of the uret... |
ORPHA:2907 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Enlarged labia minora, Cryptorchidism, ... |
OMIM:268300 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Vocal cord paralysis, Spasticity, Micropenis, Central hypothyroidism, ... |
ORPHA:798 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Intestinal obstruction, Corneal opacity, Nephrolithiasis, Hyperc... |
ORPHA:666 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Clonus, Tremor, Jaundice, Hypertonia, Dystonia |
OMIM:617248 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Astigmatism, Con... |
ORPHA:2273 |
Knobloch Syndrome 1 |
|
Band keratopathy, Pyloric stenosis, Developmental cataract, Iris transillumination defect, Lens s... |
OMIM:267750 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Corneal opacity, Mitral stenosis, Aortic val... |
ORPHA:740 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Van Den Ende-Gupta Syndrome |
|
High, narrow palate, High palate, Cleft palate, Sclerocornea |
OMIM:600920 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Limb-Mammary Syndrome |
|
Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia... |
ORPHA:69085 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Spasticity, Buphthalmos, Myoclonus, Opacification of the corneal stroma, Megalocornea |
OMIM:253280 |
Stuve-Wiedemann Syndrome 1 |
|
Smooth tongue, Opacification of the corneal stroma, Dysphagia |
OMIM:601559 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Mowat-Wilson Syndrome |
|
Cataract, Ventricular septal defect, Aganglionic megacolon, Hypospadias, Pyloric stenosis, Submuc... |
OMIM:235730 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Knobloch Syndrome 2 |
|
Pyloric stenosis, Anterior cortical cataract |
OMIM:618458 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidism, Microcornea... |
OMIM:607932 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th... |
OMIM:614527 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ... |
OMIM:194190 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Decreased testicular size, Opacification of the corneal stroma, Micropenis |
OMIM:615287 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... |
ORPHA:158684 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Kera... |
OMIM:308205 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Pterygium, Cataract, Bifid uterus |
OMIM:256520 |
Okamoto Syndrome |
|
Splenomegaly, Astigmatism, Bifid uterus |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Cryptorchidism, Gait ataxia, Astigmatism, Aplasia of the uterus, Clitoral hypertrophy |
OMIM:135900 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Pyloric stenosis, Cardiomyopathy,... |
OMIM:216340 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Bicuspid aortic valve, Aganglionic megacolon, Hypospadias, High, narrow palate, Rect... |
OMIM:309800 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Uterine rupture, ... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Cataract, Hypospadias, Small scrotum, Supernumerary nipple, Cryptorchidism, Hypoplastic labia maj... |
OMIM:601803 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Early-Onset Parkinsonism-Intellectual Disability Syndrome |
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Rigidity, Cogwheel rigidity |
ORPHA:2379 |