Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract |
OMIM:619813 |
Spastic Paraparesis And Deafness |
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Tremor, Cataract |
OMIM:312910 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Hyperlysinemia, Type I |
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Hyperactivity, Anemia, Ectopia lentis |
OMIM:238700 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Hyperactivity, Cataract, Small for gestational age |
ORPHA:85288 |
Galactosemia Iv |
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Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Morm Syndrome |
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Truncal obesity, Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Galactose Epimerase Deficiency |
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Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Cataract, Developmental cataract |
OMIM:613076 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, Tremor, Elbow flexion contracture, Abnormal repetitive manner... |
OMIM:619470 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... |
OMIM:620141 |
Phenylketonuria |
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Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Galactose Mutarotase Deficiency |
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Hepatomegaly, Failure to thrive, Cataract, Cholestasis |
ORPHA:570422 |
Dystonia-Deafness Syndrome 1 |
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Cataract, Small for gestational age, Oculogyric crisis, Generalized dystonia, Leg dystonia, Pseud... |
OMIM:607371 |
Stiff Skin Syndrome |
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Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hyperekplexia 2 |
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Exaggerated startle response, Astigmatism, Hiatus hernia |
OMIM:614619 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Aniridia 2 |
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Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Gracile Bone Dysplasia |
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Aniridia, Hypoplastic spleen, Failure to thrive, Asplenia |
OMIM:602361 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Cataract, Limb joint contracture |
OMIM:620327 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
Norrie Disease |
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Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Hyperekplexia 3 |
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Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Hyperekplexia 1 |
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Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Leukodystrophy, Hypomyelinating, 13 |
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Joint contracture, Exaggerated startle response, Failure to thrive |
OMIM:616881 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Pearson Syndrome |
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Reticulocytosis, Hepatomegaly, Cataract, Small for gestational age, Pancytopenia, Pancreatic fibr... |
ORPHA:699 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Dy... |
OMIM:617301 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Mirage Syndrome |
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Thrombocytopenia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Stiff-Person Syndrome |
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Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... |
OMIM:269200 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Joint contracture, Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
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Exaggerated startle response, Dystonia, Tremor, Hepatosplenomegaly, Dysphagia, Laryngeal dystonia |
ORPHA:845 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Sandhoff Disease |
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Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Contractures of the large joints, Dystonia, Impaired oropharyngeal ... |
ORPHA:521426 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Microphthalmia, Syndromic 9 |
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Inguinal hernia, Hypoplastic spleen, Multilobulated spleen, Congenital diaphragmatic hernia |
OMIM:601186 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia |
ORPHA:79255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Cataract, Flexion contracture |
OMIM:253800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dysphagia |
OMIM:617527 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Dysphagia |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia, Anemia, Dysphagia, Uterine prolapse, Stereotypical hand w... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |