Hypertrophia Musculorum Vera |
|
Calf muscle hypertrophy |
OMIM:145800 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Mal... |
OMIM:240950 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618117 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:617690 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ... |
OMIM:300068 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... |
ORPHA:572333 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... |
OMIM:618187 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... |
OMIM:273250 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... |
ORPHA:90793 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Hypothyroidism, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... |
OMIM:110100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia |
ORPHA:599373 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cry... |
OMIM:305400 |
Myotonic Dystrophy 2 |
|
Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo... |
OMIM:602668 |
Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
OMIM:606072 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Diabetes mellitus, Skin rash, Abnormal hair morphology, Abno... |
ORPHA:317 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Elevated c... |
ORPHA:90796 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... |
ORPHA:251623 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dyst... |
ORPHA:248111 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
46,Xy Sex Reversal 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612965 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
Mucolipidosis Iv |
|
Corneal opacity, Hypergastrinemia, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Intention tremor |
OMIM:233400 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Acromesomelic Dysplasia 3 |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hor... |
OMIM:609441 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bil... |
ORPHA:99429 |
46,Xy Partial Gonadal Dysgenesis |
|
Vanishing testis, Decreased serum estradiol, Ovarian gonadoblastoma, Male infertility, Streak ova... |
ORPHA:251510 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... |
OMIM:152950 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Mucolipidosis Type Iii |
|
Corneal opacity, Acne |
ORPHA:577 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism,... |
ORPHA:1867 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Corneal opacity, Developmental cataract |
OMIM:618815 |
Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Developmental cataract, Corneal opacity, Dystonia |
OMIM:617183 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Cryptorchidism, Hypohidrosis, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
49,Xxxyy Syndrome |
|
Epicanthus, Abnormality of the testis size, Increased circulating gonadotropin level, Primary gon... |
ORPHA:261534 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma, Hypohidrosis |
OMIM:308100 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... |
ORPHA:785 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... |
OMIM:300869 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak ovary, Spar... |
ORPHA:2232 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow... |
OMIM:618419 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Testicular gonadoblastoma, Cryptorchidism, I... |
ORPHA:755 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... |
ORPHA:91347 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse ... |
ORPHA:1234 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Eczema, Cryptorchidis... |
ORPHA:284160 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Fine hair, Keratoconjunctiv... |
ORPHA:1806 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Upslanted palpebral fissure, Delayed puberty |
ORPHA:496790 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Impaired social interactions, Aniridia, Downslanted palpebral fissures... |
OMIM:612469 |
Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Alopecia, Diabetes mellitus, Abnormal pupil ... |
ORPHA:3163 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma, Hypohidrosis |
ORPHA:461 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163971 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Developmental cataract,... |
ORPHA:99330 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Corneal arcus, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
46,Xx Sex Reversal 1 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... |
OMIM:400045 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Pituitary Apoplexy |
|
Ptosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, El... |
ORPHA:95613 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Hurler-Scheie Syndrome |
|
Rhinitis, Corneal opacity, Generalized hirsutism |
ORPHA:93476 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Arthritis, Type II diabetes mellitus, Chronic otitis media |
ORPHA:61 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity |
ORPHA:87876 |
Congenital Rubella Syndrome |
|
Cataract, Skin rash, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus |
ORPHA:290 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Thick hair, Athetosis, Abnormal cornea morphology, Dystonia, Downslanted palpebr... |
ORPHA:357058 |
Olmsted Syndrome 1 |
|
Corneal opacity, Hyperhidrosis, Nail dystrophy, Opacification of the corneal stroma, Sparse hair,... |
OMIM:614594 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Brushfield spots, Cryptorchidism, Primary adrenal insuffic... |
ORPHA:912 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Chron... |
ORPHA:3453 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... |
ORPHA:99725 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia, Blepharitis, Ptosis |
ORPHA:570 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... |
ORPHA:425 |
3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Cryptorchidism, Blepharophimosis, Epicanthus inversus, Pt... |
OMIM:248340 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... |
ORPHA:347 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Generalized hypertrichosis, Me... |
ORPHA:2409 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurr... |
ORPHA:137596 |
Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities |
OMIM:255700 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Anhidrosis, Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Recurr... |
OMIM:256800 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... |
ORPHA:2095 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Cryptorchidism, Astigmatism, Downslanted palpebral fissures, Hirsutism |
OMIM:301056 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Cryptorchidism, Ocular albinism, ... |
ORPHA:2719 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation te... |
ORPHA:488632 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor... |
OMIM:148210 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:139471 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae, Long eyela... |
OMIM:615877 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ... |
OMIM:601853 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Cataract, Corneal opacity, Thick eyebrow |
ORPHA:585 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Sialidosis Type 1 |
|
Tremor, Cataract, Corneal opacity |
ORPHA:812 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... |
ORPHA:760 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... |
OMIM:601499 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Disinhibition, Gait disturbance,... |
ORPHA:43 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal ... |
OMIM:612582 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Isolated Splenogonadal Fusion |
|
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Inappropriate l... |
OMIM:103050 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor... |
ORPHA:2273 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Downslanted palpebral fissures, Short palpebr... |
OMIM:614230 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Corneal opacity, Cryptorchidism, Astigmatism, Congenital hypoparathyroidism |
ORPHA:2323 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal ero... |
ORPHA:920 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Keratitis, Abnormal hair mo... |
ORPHA:464 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid |
OMIM:613001 |
Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior hairl... |
ORPHA:495875 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Hepatitis, Kayser-Fleischer ring, Arthritis, Acute hepatitis |
ORPHA:905 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Upslanted palpebral fiss... |
OMIM:214110 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... |
ORPHA:141099 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Tremor, Aspiration pneumonia, Dystonia, Infectious encepha... |
ORPHA:354 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Cystinosis |
|
Corneal opacity, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Hypot... |
ORPHA:213 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Cryptorchidism, Athetosis, Sparse hair, Downslanted palpeb... |
ORPHA:2962 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Hyperhidrosis |
ORPHA:28378 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, Dyston... |
OMIM:610217 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Epicanthus, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, ... |
ORPHA:1772 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Pneumonia |
ORPHA:309288 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Hurler Syndrome |
|
Corneal opacity, Bilateral ptosis, Opacification of the corneal stroma, Recurrent otitis media, H... |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Thick eyebrow, Corneal opacity, Coarse hair, Recurrent otitis media, Hirsutism |
OMIM:253220 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... |
OMIM:158310 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Generalized hypertrichosis |
ORPHA:93399 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Congenital Sialidosis Type 2 |
|
Generalized hypertrichosis, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
ORPHA:364577 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... |
ORPHA:85410 |
Transketolase Deficiency |
|
Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis, Type I diabetes m... |
ORPHA:488618 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Oculoectodermal Syndrome |
|
Epicanthus, Supernumerary nipple, Pineal cyst, Microcornea, Eyelid coloboma, Astigmatism, Opacifi... |
OMIM:600268 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Fucosidosis |
|
Corneal opacity, Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hypohidrosis, Hyperhidrosis, Heteroc... |
ORPHA:1764 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Farber Disease |
|
Arthritis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Scheie Syndrome |
|
Rhinitis, Corneal opacity |
ORPHA:93474 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... |
OMIM:610755 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Corneal opacity, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Tremor, Phonic tics, Dysphagia, Blepharospasm, C... |
OMIM:234200 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:607015 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Keratitis, Cryptorchidism, Ankyloblep... |
ORPHA:910 |
Mosaic Trisomy 9 |
|
Upslanted palpebral fissure, Cryptorchidism, Corneal opacity |
ORPHA:99776 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal ... |
OMIM:601812 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Alopecia, Corneal opacity |
OMIM:163200 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal hair pattern, Elevated circulating growth h... |
ORPHA:2796 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal... |
OMIM:263650 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Corneal opacity, Anterior pituitary hypoplasia, Eczema, Cryptorchidism, Astigmatism, Breast hypop... |
ORPHA:464306 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Agenesis of pineal gland, Corneal opacity, Cryptorchidism, Posterior subcapsul... |
ORPHA:536471 |
Somatomammotropinoma |
|
Diabetes mellitus, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Hurler Syndrome |
|
Rhinitis, Corneal opacity, Generalized hirsutism, Thick eyebrow |
ORPHA:93473 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Ectopic thyroid, Hetero... |
ORPHA:42775 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Thick hair, Synophrys, Coarse hair, Opacification of the corneal strom... |
ORPHA:581 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Skin rash, Stomatitis, Elevated circulating growth h... |
ORPHA:97280 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... |
ORPHA:2396 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Lacrimal duct atresia, Sclerocornea |
OMIM:300952 |
Tangier Disease |
|
Ectropion, Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Cryptorchidism, Abnormal pupil... |
ORPHA:534 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Recurrent skin infections, Cheilitis, Inflammation of the large intestine, Colit... |
ORPHA:2908 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Ptosis, Corneal opacity, Hyperhidrosis, Athetosis, Corneal ulceration, Action tremor |
OMIM:615273 |
Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Precocious puberty, Cryptorchidism, Microcornea, Opacification of the co... |
OMIM:201000 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Corneal opacity, Low anterior hairline, Chronic otitis media, Generalized hirsutism |
ORPHA:579 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis |
ORPHA:3474 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... |
ORPHA:99413 |
Turner Syndrome |
|
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... |
ORPHA:881 |
Mosaic Monosomy X |
|
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... |
ORPHA:99228 |
Monosomy X |
|
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... |
ORPHA:99226 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Hepatitis |
ORPHA:584 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Uveitis, Paralytic lagophthalmos, H... |
ORPHA:548 |
Alpha-Mannosidosis, Infantile Form |
|
Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Astigmatism, Otitis media |
ORPHA:309282 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine hair,... |
OMIM:308300 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Corneal opacity, Decreased testicular size |
ORPHA:96061 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... |
ORPHA:2388 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... |
OMIM:186580 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Hypothyroidism, Downslanted palpebral fissures |
ORPHA:1052 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma |
OMIM:243605 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Relapsing Polychondritis |
|
Episcleritis, Alopecia, Cataract, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepa... |
ORPHA:728 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hypohidrosis, Arthriti... |
ORPHA:324 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Xerostomia, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal s... |
ORPHA:2907 |
Acromegaly |
|
Diabetes mellitus, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Cataract, Corneal opacity, Abnormal eyelid morphology, Abnormality of the... |
ORPHA:636 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Sparse hair, Hyperthyro... |
ORPHA:3455 |
Larsen Syndrome |
|
Cryptorchidism, Corneal opacity, Short nail, Shallow orbits |
OMIM:150250 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Cryptorchidism, High anterior hairline, Low post... |
ORPHA:280 |
Fryns Syndrome |
|
Cryptorchidism, Corneal opacity |
ORPHA:2059 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Athetosis, Hypoplastic n... |
OMIM:614866 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma |
ORPHA:2092 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Fine ha... |
OMIM:242900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hirsutism |
OMIM:259600 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Posterior pituitary hypoplasia, Astigmatism, Corneal opacity |
ORPHA:464311 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Cryptorchidism, Extension of hair growth on te... |
OMIM:219000 |
Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... |
ORPHA:46059 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Corneal opacity, Alopecia totalis, Female hypogonadism, Nocturnal lagophthalmos, ... |
ORPHA:740 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure |
OMIM:608670 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog... |
ORPHA:2556 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, Upslanted palpebral f... |
OMIM:214100 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Alopecia, Corneal opacity, Nail dystrophy |
ORPHA:79396 |
Microphthalmia, Syndromic 3 |
|
Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Sclerocornea, Cryptorchid... |
OMIM:206900 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Congenital hypothyroidism, Microcornea, Upslanted palp... |
ORPHA:709 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Seborrheic dermatitis, Pancreatic cysts, Ptosis |
OMIM:274000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Azoospermia, Bacterial endocarditis, Delayed puberty, Cholelithiasis, Ptosis |
ORPHA:2072 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Recurrent skin infections, Eczema, Keratitis, Absent... |
OMIM:308205 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Elevated circulating growth hormone concentration, Increased circulating ACTH level, P... |
ORPHA:97287 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye |
ORPHA:1467 |
Juvenile Xanthogranuloma |
|
Uveitis, Blepharitis, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... |
OMIM:175780 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Dystonia, Ptosis |
OMIM:251300 |
Digeorge Syndrome |
|
Parathyroid agenesis, Acne, Sclerocornea, Decreased circulating parathyroid hormone level, Seborr... |
OMIM:188400 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Wilson Disease |
|
Hypoparathyroidism, Limb dystonia, Tremor, Osteoarthritis, Atypical or prolonged hepatitis, Hand ... |
OMIM:277900 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Pneumonia, Hirsutism |
OMIM:253200 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Abnormal eyelash morphology, Crypto... |
ORPHA:818 |
Lathosterolosis |
|
Epicanthus, Cataract, Abnormal circulating cholesterol concentration, Downslanted palpebral fissu... |
OMIM:607330 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair |
OMIM:619869 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Opacification of the corneal stroma |
OMIM:313400 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... |
ORPHA:325124 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
Williams Syndrome |
|
Epicanthus, Flat cornea, Cataract, Corneal opacity, Hypogonadotropic hypogonadism, Tremor, Crypto... |
ORPHA:904 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
Mucolipidosis Ii Alpha/Beta |
|
Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Recurrent otitis ... |
OMIM:252500 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Bronchiectasis, Pyelonephritis, Developmental cataract, Ptosis |
ORPHA:90348 |
Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma |
ORPHA:1692 |
Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea |
OMIM:600920 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Chordee, Peters anomaly, Iris coloboma |
OMIM:309801 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Short palpebral fissure, Opacification of the corneal stroma, Hyperhidrosis |
OMIM:601559 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidism, Orbital cyst, Microcornea,... |
OMIM:607932 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Gaucher Disease |
|
Osteomyelitis, Corneal opacity, Tremor, Osteoarthritis, Hepatitis, Delayed puberty |
ORPHA:355 |
Meckel Syndrome |
|
Cataract, Pancreatic fibrosis, Sclerocornea, Pancreatic cysts, Cryptorchidism, Microcornea, Aplas... |
ORPHA:564 |
Cockayne Syndrome A |
|
Anhidrosis, Dry hair, Cataract, Tremor, Cryptorchidism, Irregular menstruation, Thymic hormone de... |
OMIM:216400 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Cryptorchidism, Narrow palpebral fissure, Stillbirth, Opacification of... |
OMIM:229850 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Eyelid coloboma, Stillbirth, Opacification of the corn... |
OMIM:268300 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Tremor, Cryptorchidism, Abnormal hair morphology, Developmental cataract, H... |
OMIM:133540 |
Mucopolysaccharidosis, Type Iva |
|
Recurrent pneumonia, Opacification of the corneal stroma |
OMIM:253000 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Cryptorchidism, Upsl... |
ORPHA:3472 |
Osteogenesis Imperfecta |
|
Osteoarthritis, Corneal opacity, Hyperhidrosis |
ORPHA:666 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Arthritis, Corneal opacity |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Corneal opacity |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Arthritis, Corneal opacity |
ORPHA:217093 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Sparse ey... |
OMIM:216340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Pmm2-Cdg |
|
Epicanthus, Cataract, Hypogonadotropic hypogonadism, Pericarditis, Elevated circulating growth ho... |
ORPHA:79318 |