| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... |
OMIM:172700 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cataract, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... |
OMIM:275000 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Emotional labili... |
OMIM:614963 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia |
OMIM:620195 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin |
OMIM:614962 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Irritability, Disinhibition |
OMIM:600274 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Diabetes mellitus |
OMIM:222100 |
| Dysequilibrium Syndrome |
|
Cataract, Gait disturbance, Ataxia |
ORPHA:1766 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Cataract |
ORPHA:75858 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Huntington Disease |
|
Depression, Oral-pharyngeal dysphagia, Hostility, Difficulty walking, Inability to walk, Gait imb... |
ORPHA:399 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia |
OMIM:617119 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior |
ORPHA:261229 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Kleine-Levin Syndrome |
|
Depression, Polydipsia, Abnormal eating behavior, Sweet craving, Irritability, Polyphagia, Repeti... |
ORPHA:33543 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Polyphagia, Hyperinsulinemia |
OMIM:617885 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Gait disturbance, Ataxia |
ORPHA:2815 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity |
ORPHA:85288 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Polyphagia, Hy... |
ORPHA:276556 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Emotional lability, Impulsivity |
OMIM:615538 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... |
ORPHA:228402 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... |
OMIM:609734 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| 6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Broad-based gait |
ORPHA:171829 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
| Temple Syndrome |
|
Precocious puberty, Polyphagia, Type II diabetes mellitus, Decreased response to growth hormone s... |
ORPHA:254516 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Tortuosity of conjunctival vessels |
OMIM:248510 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:620439 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Phenylketonuria |
|
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperac... |
OMIM:261600 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... |
OMIM:615516 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Increased ... |
ORPHA:525731 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Joubert Syndrome 10 |
|
Polyphagia, Frequent temper tantrums, Dysmetria |
OMIM:300804 |
| Schaaf-Yang Syndrome |
|
Inability to walk, Hypogonadism, Polyphagia, Skin-picking, Impulsivity |
OMIM:615547 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Unsteady gait |
OMIM:620312 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Polyphagia, Hypergonadotropic hypogonadism |
OMIM:606407 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia |
OMIM:615986 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
| Wagro Syndrome |
|
Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsive behavi... |
OMIM:612469 |
| Angelman Syndrome |
|
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela... |
ORPHA:72 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:177904 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:177901 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... |
ORPHA:98754 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... |
ORPHA:85327 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Man1B1-Cdg |
|
Polyphagia, Broad-based gait |
ORPHA:397941 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism, Ataxia |
ORPHA:231183 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
| Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... |
ORPHA:398079 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Secondary Short Bowel Syndrome |
|
Polyphagia, Central hypothyroidism, Primary hypothyroidism |
ORPHA:95427 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity |
ORPHA:500180 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Eye poking |
OMIM:613835 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Hypo... |
ORPHA:398069 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... |
OMIM:156200 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... |
ORPHA:54595 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Delayed puberty |
ORPHA:251004 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79444 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness |
ORPHA:251028 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... |
OMIM:310600 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation |
ORPHA:100924 |
| Prader-Willi Syndrome |
|
Self-injurious behavior, Precocious puberty, Decreased response to growth hormone stimulation tes... |
OMIM:176270 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... |
ORPHA:79443 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... |
OMIM:256800 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Premature adrenarche, Depression, Polydipsia, Central hypothyroidism, In... |
ORPHA:293987 |
| Dystonia-Deafness Syndrome 1 |
|
Loss of ambulation, Cataract, Dysphagia, Pseudobulbar paralysis |
OMIM:607371 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Antalgic gait, Irritability, Ataxia |
ORPHA:635 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Diabetes mellitus, Insulin-resistant diabet... |
OMIM:608594 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Emotional lability, Pituitary adenoma, Abnormal fear-induced be... |
OMIM:219090 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism... |
ORPHA:96121 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
| Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... |
ORPHA:404448 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Insulin-resistan... |
OMIM:269700 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Bruxism, Irritability, Polyphagia, Attenti... |
OMIM:615873 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Transketolase Deficiency |
|
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Compulsive behaviors... |
ORPHA:488618 |
| Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... |
OMIM:620330 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Hypogonadism, Polyphagia, Gait disturbance, Hypothyroidism, Dysphagia, M... |
ORPHA:1606 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Congenital hypothyroidism, Oppositional defiant disorder, Self-mutilation, Aggressive behavior, P... |
OMIM:607872 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Decreased resting energy expenditure, Impaired oropharyngeal swallow response,... |
ORPHA:404454 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... |
ORPHA:892 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
| Alström Syndrome |
|
Precocious puberty in females, Elevated circulating thyroid-stimulating hormone concentration, De... |
ORPHA:64 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
