Severe Primary Trimethylaminuria |
|
Depression, Negative affectivity, Emotional lability, Obsessive-compulsive trait, Aggressive beha... |
ORPHA:468726 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300425 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:209850 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Truncal ataxia... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:300495 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation |
OMIM:617171 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Pick Disease Of Brain |
|
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... |
OMIM:172700 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Hypocalcemic seizures, Decreas... |
OMIM:146200 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy |
OMIM:612069 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... |
OMIM:618883 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy |
OMIM:614063 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... |
ORPHA:94090 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity |
ORPHA:85288 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines |
OMIM:608049 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Inappropriate behavior, Disinhibition, Irritability, Aggressive behavior, G... |
ORPHA:275864 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:203330 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:619150 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia |
OMIM:619073 |
Myopathy, Tubular Aggregate, 2 |
|
Falls, Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... |
ORPHA:94089 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Increased circul... |
OMIM:188570 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy, Inability to walk |
OMIM:617820 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:603233 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
Phenylketonuria |
|
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Polyphagia, Hypocalcemia, Hypergonadotropi... |
OMIM:606407 |
Autoimmune Hypoparathyroidism |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, ... |
ORPHA:36913 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... |
OMIM:619927 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Irritability |
ORPHA:2382 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Motor stereotypy, Irritability |
OMIM:617393 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... |
OMIM:600795 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level |
OMIM:618618 |
Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... |
ORPHA:79444 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Bruxism, Hyperactivity |
OMIM:300434 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Hypocalcemia, Irritability, H... |
OMIM:264700 |
Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... |
OMIM:612462 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Emotional labili... |
OMIM:614963 |
Juvenile Huntington Disease |
|
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Progressive cereb... |
ORPHA:248111 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia |
OMIM:175500 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia |
OMIM:612526 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity, Ataxia |
OMIM:615924 |
Landau-Kleffner Syndrome |
|
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... |
ORPHA:98818 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:619467 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... |
OMIM:617695 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... |
ORPHA:79443 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... |
OMIM:618917 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... |
ORPHA:449291 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... |
ORPHA:85327 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Hashimoto thyroiditis, Hypothyroidism, Th... |
ORPHA:64744 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
Xq28 (MECP2) duplication |
|
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Gand Syndrome |
|
Tics, Inappropriate laughter, Hyperactivity |
OMIM:615074 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... |
OMIM:271980 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hypercalcemia, Par... |
OMIM:617994 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Dysphor... |
OMIM:620242 |
Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Pa... |
ORPHA:561854 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Difficulty walking, Inappropriate laughter, Hypocalcemia, Ataxia |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Childhood Disintegrative Disorder |
|
Abnormal emotion, Motor stereotypy |
ORPHA:168782 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Hypocalcemia, Irritability, H... |
ORPHA:289157 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita... |
OMIM:241410 |
Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation |
OMIM:617435 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... |
ORPHA:228402 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability |
ORPHA:391307 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... |
OMIM:614104 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity |
ORPHA:457260 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... |
ORPHA:352490 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... |
OMIM:609152 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity |
ORPHA:500180 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Aggressive behavior, Emotional lability, Hypocalcemia |
OMIM:192430 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors, Un... |
ORPHA:485350 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... |
OMIM:620445 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... |
ORPHA:94093 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Motor stereotypy, Hypothy... |
OMIM:618347 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Bruxism, Recurrent hand flapping, Hyperactivity |
OMIM:613192 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereot... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... |
OMIM:618825 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Recurrent hand flapping, Gait ataxia, Emotional lability, Aggressive behavior,... |
OMIM:619580 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Emotional lability, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Ata... |
ORPHA:927 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... |
ORPHA:100924 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hypothyr... |
OMIM:600430 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Calcinosis, Hyperca... |
OMIM:239200 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Hypercalcemia, Hyperphosphatemia, Elevated circulating th... |
ORPHA:94086 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... |
OMIM:618342 |
Rett Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Increased serum leptin, Hyperammonemia, Stereotyp... |
ORPHA:778 |
Smith-Magenis Syndrome |
|
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hypercholester... |
OMIM:182290 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Depression, Hypocalcemia, Delayed puberty, Ataxia, Thyroiditis |
OMIM:212750 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Difficulty walking, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Addictive alcohol use, Euphoria, Ataxia, Hyperkalemia |
ORPHA:31826 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Difficulty walking, Motor stereotypy, Waddling gait |
ORPHA:280763 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia |
OMIM:617913 |
Developmental And Epileptic Encephalopathy 109 |
|
Crouch gait, Gait ataxia, Hyperactivity |
OMIM:620145 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy |
ORPHA:85278 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy |
ORPHA:3306 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Hyperactivity |
OMIM:615286 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... |
ORPHA:43 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia, Gait disturbance, Motor stereotypy |
OMIM:301094 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Decreased response to growth hormone stimulation test, Self-mutilation, Gait disturba... |
ORPHA:457240 |
Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity, Motor stereotypy |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:617600 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hyperparathyroidism, Gait disturbance, Hypocalcemia |
ORPHA:93160 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase |
ORPHA:99845 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia |
OMIM:241500 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy |
ORPHA:98784 |
Cholera |
|
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Acute Adrenal Insufficiency |
|
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Hyperuri... |
ORPHA:95409 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Motor stereotypy, Choreoathetosis, Ataxia |
OMIM:619317 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
OMIM:608747 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia |
ORPHA:530983 |
Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Hypothyroi... |
ORPHA:213 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Gitelman Syndrome |
|
Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Graves disease, Hypomagnesemia, Type II di... |
ORPHA:358 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity... |
ORPHA:476126 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hypocalcemia, H... |
OMIM:620330 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia |
ORPHA:428 |
Fragile X Syndrome |
|
Recurrent hand flapping, Hyperactivity, Self-biting |
OMIM:300624 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Loss of ambulation, Dysphagia, Motor stereotypy |
ORPHA:79264 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Hypophosphatasia |
|
Hypercalcemia, Irritability |
ORPHA:436 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Depression, Tip-toe gait, Stereotypical body rocking, Aggressive beh... |
ORPHA:293939 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior, Ga... |
ORPHA:168491 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy, Ataxia |
OMIM:619725 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Abnormal eating behav... |
ORPHA:247585 |
Addison Disease |
|
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... |
ORPHA:85138 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Rhabdoid Tumor |
|
Hypercalcemia, Irritability |
ORPHA:69077 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... |
OMIM:617865 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism |
OMIM:617343 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Motor stereotypy, Ataxia |
OMIM:619092 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... |
ORPHA:99879 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Hypothyroidism, Hyperactivity, Pica, Motor stereotypy |
OMIM:617796 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Motor stereotypy, Precocious puberty |
OMIM:619877 |
Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
48,Xxyy Syndrome |
|
Depression, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Ataxia, Motor st... |
ORPHA:10 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Hypercalcemia |
OMIM:143880 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity |
OMIM:300958 |
Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinemia, Dysdiadochokinesis, Hyperactivity |
OMIM:238700 |
Oculoskeletodental Syndrome |
|
Hypothyroidism, Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... |
OMIM:300986 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy |
OMIM:300486 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... |
OMIM:619121 |
Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:352540 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617808 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... |
OMIM:103580 |
Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depression, Hostility, Inability to walk, Bruxism, Repetitive compulsive behavior, Dysphagia, Ata... |
OMIM:300260 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Delayed puberty, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Motor stereotypy |
OMIM:613443 |
Pearson Syndrome |
|
Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyp... |
ORPHA:699 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr... |
ORPHA:37042 |
Optic Atrophy 11 |
|
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperactivity, G... |
OMIM:617302 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tip-toe gait, Hypocalcemia |
ORPHA:746 |
Transketolase Deficiency |
|
Self-injurious behavior, Type I diabetes mellitus, Elevated circulating ribitol concentration, At... |
ORPHA:488618 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Increased ... |
ORPHA:525731 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... |
ORPHA:98794 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, St... |
OMIM:300912 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... |
OMIM:219090 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Motor stereotypy |
ORPHA:411986 |
Ppoma |
|
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... |
ORPHA:97278 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa... |
OMIM:612089 |
Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait |
OMIM:618205 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Emotional lability, Gait disturbance, Hyperactivity, Unsteady gait, Choking episodes, Imp... |
ORPHA:35069 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy |
OMIM:616351 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:94059 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Glucagonoma |
|
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... |
ORPHA:97280 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hyperbilirubinemia, Hypocalcemia, Irritability |
OMIM:259720 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
Coffin-Siris Syndrome 7 |
|
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity |
OMIM:618027 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy |
OMIM:617807 |
Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:99819 |
22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla... |
ORPHA:1727 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618354 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Inability to walk |
OMIM:618004 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Argininemia |
|
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait |
OMIM:207800 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... |
ORPHA:424 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Elevated circulating parathyroid hormone level, Abnormal parathyroid morphology, Hype... |
ORPHA:99880 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyroid adenoma, Hy... |
OMIM:145001 |
Grfoma |
|
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... |
ORPHA:97261 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Athetosis |
ORPHA:52503 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity |
OMIM:618914 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Antalgic ... |
ORPHA:635 |
Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Motor stereotypy |
ORPHA:79155 |
Cri-Du-Chat Syndrome |
|
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... |
OMIM:123450 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Hypercalcemia, Adrenal hypoplasia |
OMIM:614732 |
Parathyroid Carcinoma |
|
Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parat... |
ORPHA:143 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Difficulty walking, Inability to walk, Primary adrenal insufficiency, Dysmetri... |
ORPHA:139396 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Increased serum testosterone level, Hyperactivity, Incr... |
ORPHA:8 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Motor stereotypy |
OMIM:618067 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Dysphagia |
ORPHA:572013 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... |
OMIM:619293 |
Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Depression, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism |
OMIM:600740 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Ritscher-Schinzel Syndrome 4 |
|
Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity |
OMIM:619435 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder... |
OMIM:619312 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:238750 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... |
OMIM:617061 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Difficulty walking, Irritability, Hypophosphatemi... |
OMIM:277440 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Precocious puberty, Attention deficit hyperactivity disorder, Gait distu... |
ORPHA:819 |
22Q11.2 Deletion Syndrome |
|
Depression, Hypocalcemia, Hypoplasia of the thymus, Attention deficit hyperactivity disorder, Hyp... |
ORPHA:567 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Motor stereotypy, Dysphagia |
OMIM:617802 |
Rett Syndrome, Congenital Variant |
|
Bruxism, Irritability, Tongue thrusting, Athetosis, Motor stereotypy |
OMIM:613454 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck |
ORPHA:94080 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis, Impulsi... |
OMIM:610217 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Decreased response ... |
OMIM:619503 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance... |
OMIM:300352 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Motor stereotypy, Diabetes mellitus |
ORPHA:500159 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Motor stereotypy, Ataxia |
OMIM:619428 |
Zollinger-Ellison Syndrome |
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Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
Chromosome 5P13 Duplication Syndrome |
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Self-injurious behavior, Motor stereotypy, Compulsive behaviors |
OMIM:613174 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy |
OMIM:619103 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Gait ataxia, Motor stereotypy, Overfriendliness |
OMIM:616579 |
Brain-Lung-Thyroid Syndrome |
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Falls, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism,... |
ORPHA:209905 |
Digeorge Syndrome |
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Parathyroid hypoplasia, Hypocalcemia, Parathyroid agenesis, Attention deficit hyperactivity disor... |
OMIM:188400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:447997 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Parathyroid hypoplasia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Diabetes mellitus |
ORPHA:2237 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:616393 |
White-Sutton Syndrome |
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Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics... |
OMIM:616364 |
Fibrous Dysplasia Of Bone |
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Precocious puberty in females, Increased circulating cortisol level, Difficulty walking, Thyroid ... |
ORPHA:249 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... |
ORPHA:457279 |
Cartilage-Hair Hypoplasia |
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Hypocalcemia |
ORPHA:175 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Rauch-Steindl Syndrome |
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Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619695 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... |
OMIM:619991 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypoparathyroidism, Hypophosphatemia, Hypercalcemia, Waddling gait |
OMIM:156400 |
Chromosome 15Q11.2 Deletion Syndrome |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:615656 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
Joubert Syndrome 6 |
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Motor stereotypy, Ataxia |
OMIM:610688 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma |
OMIM:145980 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia, Hypothyroidism, Motor stereotypy, Ataxia |
ORPHA:2479 |
3P25.3 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
ORPHA:435638 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Self-injurious behavior, Motor stereotypy, Inability to walk, High nonceruloplasmin-bound serum c... |
ORPHA:457351 |
Small Cell Carcinoma Of The Bladder |
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Hypercalcemia |
ORPHA:284400 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Motor stereotypy |
ORPHA:261144 |
Proximal 16P11.2 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis |
ORPHA:261197 |
Exercise-Induced Malignant Hyperthermia |
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Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype... |
ORPHA:466650 |
2Q37 Microdeletion Syndrome |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1001 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Craniofacioskeletal Syndrome |
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Hypocalcemia |
OMIM:300712 |
Wiedemann-Steiner Syndrome |
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Decreased response to growth hormone stimulation test, Low frustration tolerance, Aggressive beha... |
ORPHA:319182 |
Hereditary Pheochromocytoma-Paraganglioma |
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Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated circulating cal... |
ORPHA:29072 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism |
OMIM:145981 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stimulating hormone concent... |
ORPHA:93325 |
Infantile Myofibromatosis |
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Hypercalcemia |
ORPHA:2591 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
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Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:620494 |
Charge Syndrome |
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Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Kleefstra Syndrome 1 |
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Compulsive behaviors, Aggressive behavior, Motor stereotypy |
OMIM:610253 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Inappropriate laughter, Motor stereotypy |
OMIM:615802 |
Congenital Disorder Of Glycosylation, Type Iia |
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Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy |
OMIM:212066 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia |
OMIM:613658 |
Phelan-Mcdermid Syndrome |
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Broad-based gait, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Motor stereotypy |
OMIM:606232 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcemia, Extraadre... |
ORPHA:276621 |
Hennekam Syndrome |
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Hypocalcemia |
ORPHA:2136 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Phonic tics, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturbance, Hype... |
OMIM:234200 |
Osteopetrosis With Renal Tubular Acidosis |
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Secondary hyperparathyroidism, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia |
OMIM:218330 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Inability to walk, Spastic ataxia, Motor stereotypy, Emotional lability |
ORPHA:300570 |
White-Sutton Syndrome |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
ORPHA:468678 |
Glucose-Galactose Malabsorption |
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Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ... |
OMIM:619575 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Motor stereotypy |
OMIM:300672 |
Den Hoed-De Boer-Voisin Syndrome |
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Inability to walk, Stereotypical hand wringing, Dysphagia, Ataxia, Motor stereotypy, Agitation |
OMIM:619229 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Elevated circulating creatine kinase concentration, Motor stereotypy, Dysphagia, Ataxia |
ORPHA:496641 |
Niemann-Pick Disease, Type C2 |
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Motor stereotypy, Dysphagia, Ataxia |
OMIM:607625 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... |
OMIM:601678 |
Choreoacanthocytosis |
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Self-injurious behavior, Phonic tics, Depression, Head-banging, Falls, Bruxism, Emotional labilit... |
ORPHA:2388 |
Multiple Endocrine Neoplasia Type 2 |
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Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad-based gait, Hyperbilirubinemia, Emotional lability, Ataxia, Tics, Motor stereotypy, Depress... |
OMIM:619475 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Sk... |
ORPHA:177907 |
Bainbridge-Ropers Syndrome |
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Self-injurious behavior, Precocious puberty, Inability to walk, Recurrent hand flapping, Motor st... |
OMIM:615485 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Motor stereotypy, Choreoath... |
ORPHA:522077 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany, Aplasia of the thymus, Hypothyroidism, Thyroiditis |
ORPHA:83471 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia... |
ORPHA:805 |
Paget Disease Of Bone 2, Early-Onset |
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Hypercalcemia |
OMIM:602080 |
Kleefstra Syndrome |
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Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation |
ORPHA:261494 |
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