Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
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Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Optic Atrophy 5 |
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Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Choroideremia |
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Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Retinitis Pigmentosa 73 |
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Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Hyperlysinemia, Type I |
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Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
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 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hartnup Disorder |
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Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
8p23.1 deletion syndrome |
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Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Morm Syndrome |
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Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
Optic Atrophy 8 |
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Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Optic atrophy, Vis... |
OMIM:616648 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Phenylketonuria |
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Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Canavan Disease |
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Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:141 |
Hyperprolinemia, Type I |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Landau-Kleffner Syndrome |
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Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
Congenital Stationary Night Blindness |
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Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
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 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Lennox-Gastaut Syndrome |
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Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Oculocutaneous Albinism Type 1 |
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Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Constriction of peripheral visual field, Optic atrophy, Abnormal retinal nerve fiber layer morpho... |
ORPHA:1215 |
Juvenile Huntington Disease |
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Irritability, Hyperactivity, Dementia, Depression |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 21 |
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Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... |
ORPHA:228402 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
47,Xyy Syndrome |
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Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ... |
ORPHA:8 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Ataxia With Vitamin E Deficiency |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... |
ORPHA:96 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Optic disc pallor, Central scotoma, Optic atrophy, Slow decrease in visual acuity, Abnormality of... |
OMIM:601152 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Aggressive behavior, Precocious puberty, Mental deterioration, Low frustration tol... |
ORPHA:163681 |
Graves Disease, Susceptibility To, 1 |
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Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Small scrotum, Cryptorchidism, Low frustration tolerance, Microphallus, Micropenis... |
OMIM:300486 |
Mohr-Tranebjaerg Syndrome |
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Cerebral visual impairment, Visual loss, Central scotoma, Optic atrophy, Photophobia, Abnormality... |
ORPHA:52368 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Oculocutaneous Albinism Type 1A |
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Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... |
OMIM:610042 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... |
ORPHA:43 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Friedreich Ataxia |
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Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... |
OMIM:229300 |
Night Blindness, Congenital Stationary, Type 1F |
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Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... |
OMIM:125310 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Visual impairment |
ORPHA:485421 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi... |
OMIM:610217 |
Floating-Harbor Syndrome |
|
Restlessness, Short attention span, Hypospadias, Impulsivity, Aggressive behavior, Precocious pub... |
ORPHA:2044 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity |
OMIM:620047 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353281 |
Floating-Harbor Syndrome |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353277 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |