| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| N-Acetylaspartate Deficiency |
|
Inguinal hernia, Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight |
OMIM:614063 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... |
OMIM:609425 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Arthrogryposis multiplex congenita, Abnormal repetitive mannerisms |
OMIM:615282 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:617393 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Repetitive compulsive behavior, Congen... |
ORPHA:352490 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| Foxg1 Syndrome |
|
Bruxism, Decreased body weight, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, St... |
ORPHA:561854 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Christianson Syndrome |
|
Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex congenita, Abnormal repetit... |
ORPHA:85278 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, A... |
OMIM:614104 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Decreased ... |
OMIM:618342 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Dysphagia, Self-injurious behavior, Attention deficit hyperactivity disorder, Decreased body weig... |
OMIM:617695 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... |
OMIM:600430 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Hernia, Abnormal repetitive mannerisms |
ORPHA:3306 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Abnormal repetitive mannerisms |
ORPHA:280763 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Attention... |
ORPHA:10 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
| Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
| Xq28 (MECP2) duplication |
|
Failure to thrive, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ... |
OMIM:620242 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Aggressive behavior, Abnormal repetiti... |
OMIM:123450 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Impulsivity, Aggressive behavior, Self-injurious behavior, Joint contracture of ... |
OMIM:618914 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Abnormal temper t... |
ORPHA:449291 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Self-injurious behavior, Attention deficit hyperactivity disorder, Umbilical her... |
OMIM:618354 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity ... |
OMIM:300986 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity dis... |
OMIM:619580 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Enamel hypoplasia, A... |
OMIM:618205 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Obsessive-compulsive trait, Abnormal ... |
OMIM:617796 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia, Diabetes mellitus, Abnormal repetitive mannerisms |
ORPHA:500159 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Aggressive behavior, Bulimia, Self-biting, Stereotypical body r... |
OMIM:300912 |
| Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| White-Sutton Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur... |
OMIM:616364 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Attention deficit hyperactivity disorder, Enamel hypoplasia, Abnormal repeti... |
OMIM:619293 |
| Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:613174 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th... |
ORPHA:261197 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Repetitive compulsive behavior, Bruxism, Dysphagia, Decreased body weight, Abnormal repetitive ma... |
OMIM:300260 |
| Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:1001 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
| Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Dysphagia, A... |
OMIM:619312 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms |
OMIM:619092 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms |
OMIM:613443 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:411986 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Umbilical hernia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Ankle flexion contracture, Dysphagia |
OMIM:617802 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Attention deficit hyperactivity d... |
ORPHA:819 |
| Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
| White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... |
ORPHA:468678 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619877 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... |
ORPHA:488618 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Agitation, Dysphagia, Enamel hypoplasia, Decreased body weight, Abnormal rep... |
OMIM:619229 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Elbow contracture, Attention deficit hyperactivity disorder, Compulsive behaviors, Joint contract... |
OMIM:615656 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Failure to t... |
ORPHA:476126 |
| Rett Syndrome |
|
Failure to thrive, Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
| Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior |
OMIM:619435 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Failure to thrive, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggr... |
OMIM:300352 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
| Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... |
ORPHA:261494 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Knee flexion contracture |
ORPHA:435638 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Aggressive behavior, Contracture of the proximal interphalangeal joint of the 4th t... |
ORPHA:457279 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Abnormal repetitive mannerisms |
OMIM:617807 |
| Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Bruxism, Cellulitis, Abnormal repetitive mannerisms |
OMIM:606232 |
| Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Failure to thrive, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
OMIM:212066 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619121 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Freq... |
OMIM:619575 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619428 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Bainbridge-Ropers Syndrome |
|
Failure to thrive, Self-injurious behavior, Contracture of the proximal interphalangeal joint of ... |
OMIM:615485 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Arthrogryposis multiplex congenita, Compulsive behaviors,... |
OMIM:619512 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Aggressive behavior, Obesity, Umbilical hernia, Abnormal repetitive mannerisms |
OMIM:301066 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Decrea... |
OMIM:619005 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
| Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Arthrogryposis multiplex congenita, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:496641 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Attention de... |
ORPHA:464311 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Abnormal repetitiv... |
ORPHA:522077 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:319182 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Multiple joint contractures, Small for gestational age, Failure to thrive, Abnorma... |
ORPHA:464306 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei... |
OMIM:619475 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Knee flexion con... |
ORPHA:468631 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... |
OMIM:615873 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Abnormal repetitive mannerisms, Obesity |
OMIM:618653 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contractures of the large joint... |
ORPHA:580 |
| Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:2479 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353281 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Abnormal repetitive mannerisms |
OMIM:301040 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms |
ORPHA:300570 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
| Kinsship Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Lower-limb joint contracture, Stereotypical body rocking, Failure... |
ORPHA:513456 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Elbow flexion contracture, Hypereosinophilia, Abnormal repetitive mannerisms |
ORPHA:508533 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Small for gestational age, Flexion contracture, Camptodactyly, Abnormal repetitive... |
OMIM:309590 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Elbow flexion contracture, Dysphagia, Enamel hypoplasia, Abnormal repeti... |
OMIM:619777 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Abnormal dental enamel morphology, Atypical scarring of skin, Self-injurious beh... |
ORPHA:534 |
| Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Aggressive behavior, Corneal scarring, Keloids, Ename... |
OMIM:309000 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
| Ogden Syndrome |
|
Inguinal hernia, Maternal diabetes, Minimal subcutaneous fat, Dysphagia, Umbilical hernia, Abnorm... |
OMIM:300855 |
| Primrose Syndrome |
|
Restlessness, Hip contracture, Diabetes mellitus, Aggressive behavior, Flexion contracture, Knee ... |
OMIM:259050 |
| Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity |
OMIM:301030 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353277 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Hiatus hernia, Aggressive behavior, Attention deficit hyperactivity disorder, Abno... |
OMIM:614756 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thri... |
ORPHA:1606 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Abnormal repetitive manneris... |
OMIM:301044 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, F... |
ORPHA:649 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m... |
OMIM:612474 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms, Hiatus hernia |
OMIM:616682 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:617330 |
| Arboleda-Tham Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
| Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:194190 |
| Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
| Nmda Receptor Encephalitis |
|
Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Bruxism, Dysphagia, Camptodactyly, Failure to thrive, Abnormal repetitive ma... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Flexion contracture, Bruxism, Dysphagia, Camptodactyly, Decreased body weight, Abnormal repetitiv... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Bruxism, Dysphagia, Camptodactyly, Failure to thrive, Abnormal repetitive ma... |
ORPHA:261552 |
