Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
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 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
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 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... |
OMIM:605899 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
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 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Pick Disease Of Brain |
|
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... |
OMIM:172700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Agenesis of co... |
OMIM:617695 |
Stxbp1-Related Encephalopathy |
|
Inability to walk, Hyperactivity, Dysplastic corpus callosum, Ataxia |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ... |
OMIM:612069 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Failure to thrive, Agenesis of corpus callosum |
OMIM:274270 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age |
ORPHA:85288 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ... |
ORPHA:248111 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Agenesis of corpus callosum, Difficulty walking, Bruxism, Dec... |
ORPHA:561854 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis |
ORPHA:382 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Failure to thrive, Agenesis of corpus callosum, Aggressive behavior |
OMIM:615286 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... |
OMIM:614104 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Failure to thrive, Aggressive behavior |
OMIM:618362 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... |
OMIM:600795 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Retinal pigment epithelial atrophy, Optic atrophy, Cata... |
OMIM:143200 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... |
ORPHA:2334 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Failure to thrive, Self-mutilation |
OMIM:604317 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... |
OMIM:617600 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive man... |
DECIPHER:45 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Failure to thrive, Crouch gait, Gait ataxia |
OMIM:620145 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia |
OMIM:615924 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, Steppage gait, Attentio... |
ORPHA:98818 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... |
ORPHA:352490 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy, Cataract |
OMIM:613731 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... |
OMIM:620242 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Christianson Syndrome |
|
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... |
ORPHA:85278 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia |
ORPHA:848 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... |
OMIM:600430 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Usher Syndrome Type 3 |
|
Cataract, Iris hypopigmentation, Astigmatism, Depression |
ORPHA:231183 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Decreased ... |
OMIM:618342 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:271980 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Abnormal repetitive mannerisms, Difficulty walking |
ORPHA:280763 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Lateral ventricle dilatation, Abnormal repetitive mannerisms |
OMIM:613443 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms |
OMIM:619317 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... |
OMIM:212550 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... |
OMIM:607485 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Obesity, Low frustration ... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... |
OMIM:300986 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D... |
OMIM:300260 |
Fg Syndrome 3 |
|
Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Failure to thrive, Aggressive behavior |
ORPHA:369939 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Abnormal t... |
ORPHA:449291 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Agitation, Emotional lability, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Agenesis of corpus callosum, Dysphag... |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior |
OMIM:300958 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms, Lateral ventricle dilatation |
OMIM:617751 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Self-mutilation |
ORPHA:52503 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... |
ORPHA:2388 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Ina... |
ORPHA:98794 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... |
OMIM:613174 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Abnormal emotion |
ORPHA:168782 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... |
ORPHA:168491 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... |
OMIM:617796 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:238750 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Obesity, Agenesis of corpus callosum, Gait imbalance, A... |
OMIM:619312 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-banging, Attention defi... |
OMIM:619103 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
48,Xxyy Syndrome |
|
Ataxia, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitive manner... |
ORPHA:10 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior |
ORPHA:309246 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... |
OMIM:300912 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:618004 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Failure to thrive |
OMIM:619239 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms |
ORPHA:79264 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia |
OMIM:617807 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Impaired pain sensation, Obesity, Failure to thrive, Self-mutilation |
ORPHA:412035 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:300486 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Failure to thrive, Abnormal r... |
ORPHA:778 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty walking, Abnormal repet... |
OMIM:123450 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Retinal coloboma |
OMIM:601794 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Gait disturbance, Disinhibition,... |
ORPHA:43 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:619877 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression |
ORPHA:98784 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... |
OMIM:618205 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... |
ORPHA:457279 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention defici... |
OMIM:619575 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Agenesis of corpus callosum, Failure to thrive, Abnormal repetitive mannerisms, Inappropriate lau... |
OMIM:615802 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... |
OMIM:617061 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Depression |
ORPHA:309288 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Cataract |
OMIM:146200 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum |
ORPHA:48652 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:261144 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... |
OMIM:620073 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Overweight, Inability to walk, Obesity, Lateral ventricle dilatation, Agitation, Dysphagi... |
OMIM:619229 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... |
ORPHA:819 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
ORPHA:476126 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotio... |
OMIM:610217 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal r... |
ORPHA:261197 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... |
OMIM:300352 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Hyperactivity |
OMIM:609727 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... |
OMIM:619293 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:619428 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Athetosis, Irritability, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Cystinosis |
|
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability... |
OMIM:616364 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... |
ORPHA:209905 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Oculoauricular Syndrome |
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Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Retin... |
OMIM:612109 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis... |
ORPHA:263479 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dil... |
ORPHA:300570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Chromosome 15Q11.2 Deletion Syndrome |
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Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Compulsive beha... |
OMIM:615656 |
Transketolase Deficiency |
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Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Abnormal repetitive mannerisms |
ORPHA:500159 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... |
ORPHA:1001 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
Congenital Disorder Of Glycosylation, Type Iia |
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Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:212066 |
Bainbridge-Ropers Syndrome |
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Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Recurrent hand flapping... |
OMIM:615485 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Pain insensitivity, Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Kleefstra Syndrome 1 |
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Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Atelis Syndrome 2 |
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Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract |
OMIM:620185 |
Kleefstra Syndrome |
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Aggressive behavior, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Abnormal repe... |
ORPHA:261494 |
Phelan-Mcdermid Syndrome |
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Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Microphthalmia, Syndromic 5 |
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Microcornea, Coloboma, Cataract, Optic nerve hypoplasia |
OMIM:610125 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... |
OMIM:619005 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Partial agenesis of the corpus callosum, Self-injurious behavior, Agenesis of corp... |
OMIM:619512 |
Prader-Willi Syndrome Due To Translocation |
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Obesity, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Comp... |
ORPHA:177907 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Optic disc pallor, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
White-Sutton Syndrome |
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Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... |
ORPHA:468678 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Failure to thrive, Abno... |
ORPHA:319182 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive... |
ORPHA:522077 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... |
OMIM:619475 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Irritability, Truncal obesity, L... |
OMIM:615873 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... |
ORPHA:649 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... |
ORPHA:96121 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Optic atrophy, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp... |
OMIM:234200 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Depression |
ORPHA:330015 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ... |
OMIM:617330 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to... |
ORPHA:464311 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Severe failure to thrive, Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetiti... |
ORPHA:468631 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv... |
ORPHA:464306 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Pain insensitivity, Somatic sensory dysfunction, Impulsivity, Impaire... |
ORPHA:642 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... |
ORPHA:513456 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353281 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Kinsship Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity |
OMIM:301030 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Chorea, Depression, Choreoathetosis, Agitation, Mania, Abnormal repetitive manner... |
ORPHA:217253 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Abnormal repetitive mannerisms, Obesity, Aggressive behavior |
OMIM:301066 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:508533 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
1P36 Deletion Syndrome |
|
Polyphagia, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Gait disturbance, Dysp... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:508498 |
Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... |
ORPHA:534 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Agenesis of corpus callosum, Failure to thrive, Abnormal repetitive ma... |
OMIM:194190 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Arboleda-Tham Syndrome |
|
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia |
OMIM:616268 |
Ogden Syndrome |
|
Irritability, Abnormal repetitive mannerisms, Dysphagia |
OMIM:300855 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... |
OMIM:259050 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity |
OMIM:612474 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms |
OMIM:301044 |
Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus callosu... |
ORPHA:261537 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus callosu... |
ORPHA:261552 |
Acromelic Frontonasal Dysplasia |
|
Agenesis of corpus callosum |
ORPHA:1827 |