Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Neutrophil Immunodeficiency Syndrome |
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Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Morm Syndrome |
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Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pandas |
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Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Smith-Magenis syndrome |
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Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Motor stereotypy |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
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Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Specific Granule Deficiency 1 |
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Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... |
OMIM:245480 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
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Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
Indolent Systemic Mastocytosis |
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Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... |
ORPHA:98848 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Intellectual Developmental Disorder, X-Linked 101 |
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Optic atrophy, Hyperactivity |
OMIM:300928 |
Central Retinal Vein Occlusion |
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Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Familial Drusen |
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Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
Developmental And Epileptic Encephalopathy 104 |
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Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Familial Exudative Vitreoretinopathy |
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Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... |
ORPHA:891 |
Exudative Vitreoretinopathy 1 |
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Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
Glycine Encephalopathy 1 |
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Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Optic atrophy, Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
Hartnup Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Vitreoretinopathy, Neovascular Inflammatory |
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Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
Immunodeficiency 81 |
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Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
Bullous Diffuse Cutaneous Mastocytosis |
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Erythroderma, Cutaneous mastocytosis |
ORPHA:280785 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Macular Dystrophy, Retinal, 3 |
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Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 104 |
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Optic atrophy, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Hyperprolinemia, Type I |
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Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Mast Cell Sarcoma |
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Splenomegaly, Mastocytosis |
ORPHA:66661 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
Eales Disease |
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Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... |
ORPHA:40923 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
Phenylketonuria |
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Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
Aggressive Systemic Mastocytosis |
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Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Leukocyt... |
ORPHA:98850 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Immunodeficiency 108 With Autoinflammation |
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Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Vitreoretinochoroidopathy |
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Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... |
OMIM:193220 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter |
OMIM:618718 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... |
OMIM:618986 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Optic atrophy, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Graves Disease |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... |
ORPHA:449291 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Agitation, Abnormal fear-induced behavior, Restlessness |
ORPHA:100924 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Irritability, Retinal neovascularization, Depression, Retinal cotton wool spot, Abnormal retinal ... |
ORPHA:247691 |
Norrie Disease |
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Optic atrophy, Retinal dysplasia, Retinal detachment, Retinal fold, Aggressive behavior |
OMIM:310600 |
Chédiak-Higashi Syndrome |
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Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... |
ORPHA:167 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hyperactivity, Self-biting |
OMIM:618314 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Optic atrophy, Emotional lability, Hyperactivity, Impulsivity, Dysphagia |
OMIM:610217 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Depression, Phonic tics, Dysphagia, Mot... |
OMIM:234200 |
Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Leukocyte Adhesion Deficiency |
|
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... |
ORPHA:2968 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |