Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Hyperactivity |
OMIM:274270 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:141333 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
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 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism |
ORPHA:1466 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Adrenal insuffici... |
ORPHA:43 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hyp... |
ORPHA:449291 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... |
ORPHA:231580 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism, Dexamethasone-suppressible p... |
ORPHA:369929 |
Congenital Toxoplasmosis |
|
Microphthalmia, Cognitive impairment |
ORPHA:858 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder |
ORPHA:1942 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma... |
OMIM:618914 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:602342 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:152950 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:600118 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Dysphagia |
OMIM:308350 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior |
ORPHA:261272 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Rere-Related Neurodevelopmental Syndrome |
|
Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Mic... |
ORPHA:494344 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism |
OMIM:613730 |
Norrie Disease |
|
Aggressive behavior, Hypoplasia of the iris, Buphthalmos, Dementia, Microphthalmia |
OMIM:310600 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Progressive neurologic deterioration, Cryptorchidism |
OMIM:214150 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Bilateral microphthalmos, Agita... |
ORPHA:369891 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus |
ORPHA:290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu... |
OMIM:608747 |
Trisomy 13 |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Cognitive impairment, Microphthalmia |
ORPHA:3378 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive b... |
OMIM:620098 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Cryptorchidism |
ORPHA:404440 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Isosexual precocious puberty |
ORPHA:2788 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:610125 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression |
ORPHA:64280 |
Bresek Syndrome |
|
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism |
ORPHA:85284 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Moebius Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Decreased testicular size, Dysphagia |
OMIM:157900 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dysphagia |
OMIM:612379 |
Temtamy Syndrome |
|
Microphthalmia, Self-mutilation |
OMIM:218340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:618652 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Dysphagia, Cryptorchidism |
OMIM:618494 |
Microphthalmia With Brain And Digit Anomalies |
|
Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Joubert Syndrome 37 |
|
Microphthalmia, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas |
ORPHA:2470 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Monosomy 18P |
|
Microphthalmia, Hypothyroidism |
ORPHA:1598 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Depression, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:65286 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stim... |
OMIM:609053 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Cognitive impairment |
ORPHA:1915 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:243310 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size |
ORPHA:335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:77298 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Decreased testicular size, Cryptorchidism |
OMIM:615663 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Joubert Syndrome 14 |
|
Microphthalmia, Irritability |
OMIM:614424 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Hyperactivity, Aggressive behavior, Cryptorchidism |
OMIM:619148 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Depression, Attention deficit hyperactivity disorder, Cryptorchidism |
ORPHA:250989 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:616395 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:96263 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Adrenal gland agenesis |
OMIM:273395 |
Atelis Syndrome 2 |
|
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... |
OMIM:620185 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Decreased testicular size |
OMIM:614222 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Marden-Walker Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:248700 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:899 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Microphthalmia, Lenz Type |
|
Microphthalmia, Self-injurious behavior, Cryptorchidism |
ORPHA:568 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Micro Syndrome |
|
Microphthalmia, Delayed puberty, Cryptorchidism |
ORPHA:2510 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309263 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Xeroderma Pigmentosum, Complementation Group D |
|
Mental deterioration, Microphthalmia |
OMIM:278730 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Cognitive impairment, Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism, Diabetes insipidus |
ORPHA:391474 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Adrenal hypoplasia, Cryptorchidism |
OMIM:264480 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Cryptorchidism |
ORPHA:3301 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia, Adrenal gland dysgenesis |
OMIM:236680 |
Dubowitz Syndrome |
|
Short attention span, Hyperactivity, Cryptorchidism, Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Martsolf Syndrome 1 |
|
Microphthalmia, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:212720 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Cryptorchidism |
ORPHA:2505 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism |
ORPHA:2728 |
Incontinentia Pigmenti |
|
Cognitive impairment, Microphthalmia, Attention deficit hyperactivity disorder, Supernumerary nipple |
ORPHA:464 |
Metachromatic Leukodystrophy, Adult Form |
|
Emotional lability, Abnormal social behavior, Depression |
ORPHA:309271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:613001 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Cryptorchidism |
OMIM:614225 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... |
OMIM:206900 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Cholelithiasis, Aggressive behavior |
ORPHA:464738 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Attention deficit hyperactivity disorder, Microph... |
OMIM:227646 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:244300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cryptorchidism, Abnormal repetitive mannerisms, Depression, Buphthalmos, Abn... |
ORPHA:534 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia |
OMIM:615877 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2166 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Hypogonadism |
OMIM:601675 |
Monosomy 9Q22.3 |
|
Microphthalmia, Hyperactivity, Ovarian fibroma |
ORPHA:77301 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
Holoprosencephaly |
|
Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Cognitive impairment, Microp... |
ORPHA:2162 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Hypogonadism |
OMIM:610651 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Hyperactivity, Cryptorchidism |
OMIM:234100 |
Cohen Syndrome |
|
Microphthalmia, Delayed puberty, Cryptorchidism |
ORPHA:193 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Decreased response to growth hormone stimulation test, Cryptorchidism |
OMIM:603467 |
Adams-Oliver Syndrome |
|
Microphthalmia |
ORPHA:974 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:284160 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Mend Syndrome |
|
Microphthalmia, Hyperactivity, Aggressive behavior, Cryptorchidism |
ORPHA:401973 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... |
OMIM:308300 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Attention deficit hyperactivity disorder |
OMIM:614083 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:614230 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Cognitive impairment |
ORPHA:2092 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypogonadism, Cryptorchidism |
ORPHA:2250 |
Trisomy 18 |
|
Microphthalmia, Cognitive impairment, Cryptorchidism |
ORPHA:3380 |
Mosaic Trisomy 9 |
|
Microphthalmia, Cryptorchidism |
ORPHA:99776 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:600901 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:616975 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism |
ORPHA:251014 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Fryns Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2059 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:3412 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:601812 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Cryptorchidism |
OMIM:300895 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
Momo Syndrome |
|
Abnormality of the thyroid gland, Bilateral microphthalmos |
ORPHA:2563 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism |
OMIM:236670 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the adrenal glands, A... |
ORPHA:138 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Self-i... |
ORPHA:649 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia, Cryptorchidism |
OMIM:147791 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Cholelithiasis, Cryptorchidism, Depression, Hypoplasia of th... |
ORPHA:567 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Microphthalmia, Thyr... |
ORPHA:861 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227645 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Unilateral microphthalmos |
OMIM:618874 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia |
OMIM:127000 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism |
ORPHA:42775 |
Papillorenal Syndrome |
|
Microphthalmia |
OMIM:120330 |
Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism |
OMIM:268400 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Cryptorchidism |
OMIM:616300 |
Meckel Syndrome |
|
Anophthalmia, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Aplasia/Hypoplasia of the ir... |
ORPHA:564 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... |
ORPHA:672 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:508498 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Ovarian fibroma, Ovarian carcinoma |
OMIM:109400 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Hypothyroidism, Cryptorchidism |
ORPHA:2108 |
Cockayne Syndrome Type 3 |
|
Cognitive impairment, Microphthalmia, Progressive neurologic deterioration |
ORPHA:90324 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling |
OMIM:616393 |
Cockayne Syndrome |
|
Diabetes mellitus, Cryptorchidism, Absence of pubertal development, Cognitive impairment, Delayed... |
ORPHA:191 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Polycystic ovaries |
ORPHA:137675 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Self-injurious behavior, Abnorm... |
ORPHA:468631 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia, Delayed puberty |
ORPHA:50 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Hypothyroidism |
ORPHA:1052 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Cat Eye Syndrome |
|
Microphthalmia |
OMIM:115470 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Hypothyroidism, Cryptorchidism |
OMIM:620005 |
Fanconi Anemia |
|
Cryptorchidism, Aplasia/Hypoplasia of the iris, Hypogonadism, Microphthalmia, Abnormality of the ... |
ORPHA:84 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:214800 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Absent gallbladder |
OMIM:617925 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Meckel Syndrome, Type 1 |
|
Microphthalmia, Bile duct proliferation, Adrenal hypoplasia, Cryptorchidism |
OMIM:249000 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:263650 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism |
OMIM:610828 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Cryptorchidism |
OMIM:133540 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency, Microphthalmia, Hypothyroidism |
OMIM:300166 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:603457 |
Holoprosencephaly 1 |
|
Microphthalmia, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:33364 |
Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia |
OMIM:304050 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fryns Syndrome |
|
Microphthalmia, Ectopic pancreatic tissue, Cryptorchidism |
OMIM:229850 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Cryptorchidism |
OMIM:609945 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, ... |
OMIM:613406 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Monosomy 9P |
|
Microphthalmia, Cryptorchidism |
ORPHA:261112 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ... |
ORPHA:93325 |
Degcags Syndrome |
|
Microphthalmia, Choking episodes, Oral-pharyngeal dysphagia, Cryptorchidism |
OMIM:619488 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Anterior h... |
OMIM:607932 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Hyperactivity, Optic nerve hypoplasia, Bilateral microphthalmos, Tic... |
ORPHA:508488 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder |
OMIM:619539 |
Roberts Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3103 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:139210 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Abnormal repetitive mannerisms, Aggressive behavior, Cryptorchidism |
OMIM:309000 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal testis morphology |
ORPHA:2556 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:613884 |
Fontaine Progeroid Syndrome |
|
Microphthalmia, Absent nipple, Hypoplastic nipples, Cryptorchidism |
OMIM:612289 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363958 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Cryptorchidism |
OMIM:616734 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus, Adrenal hypoplasia |
OMIM:157170 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Cryptorchidism, Hypoplastic nipples, Aniridia, Microphthalmia |
OMIM:305600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Choreoacanthocytosis |
|
Hair-pulling, Socially inappropriate behavior |
ORPHA:2388 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior, Low frustration tolerance, Depression |
ORPHA:646 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Cryptorchidism |
ORPHA:3472 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Depression |
ORPHA:805 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Supernumerary nipple |
OMIM:100300 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Renpenning Syndrome 1 |
|
Microphthalmia, Decreased testicular size |
OMIM:309500 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2052 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling |
OMIM:620330 |
Fraser Syndrome 1 |
|
Cryptorchidism, Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:256520 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus tissue |
OMIM:113620 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Williams Syndrome |
|
Overfriendliness, Abnormal social behavior, Depression |
ORPHA:904 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:235730 |
Townes-Brocks Syndrome |
|
Microphthalmia, Hypothyroidism, Delayed puberty, Cryptorchidism |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cryptorchidism, Dysphagia, Hydrocele testis, Bruxism, Microphthalmia, Abnormal repetitive mannerisms |
ORPHA:261552 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aggressive behavior, Cryptorchidism, Microphthalmia, Self-mutilation |
OMIM:309800 |
Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:268300 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |