Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
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Attention deficit hyperactivity disorder |
OMIM:619957 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
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Attention deficit hyperactivity disorder |
OMIM:613003 |
Autism, Susceptibility To, X-Linked 4 |
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Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
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Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
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Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
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Attention deficit hyperactivity disorder |
OMIM:617863 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Hartnup Disorder |
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Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Microcephaly, Seizures, And Developmental Delay |
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Hyperactivity, Ataxia |
OMIM:613402 |
Hyperprolinemia, Type I |
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Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior |
OMIM:620270 |
Mannosidosis, Beta A, Lysosomal |
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Hyperactivity, Aggressive behavior |
OMIM:248510 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Attention deficit hyperactivity disorder |
OMIM:617028 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
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 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Morm Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Chromosome 3Q29 Deletion Syndrome |
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Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Unsteady gait, 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 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
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 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Gand Syndrome |
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Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Phenylketonuria |
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Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:261600 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
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Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... |
ORPHA:3077 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Juvenile Huntington Disease |
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Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Cln5 Disease |
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Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Gm2 Gangliosidosis, Ab Variant |
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Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Tay-Sachs Disease |
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Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sandhoff Disease, Infantile Form |
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Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Cherry red spot of the macula, Lar... |
ORPHA:845 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |