Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Hyperglycinuria, EEG a... |
OMIM:239500 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... |
OMIM:619279 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... |
ORPHA:3077 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Urinary urgency, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Hyperglycinuria, Impulsivity, Lethargy |
OMIM:605899 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia |
OMIM:300983 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Increased urinary disaccharide excretion, Hearing impairment |
OMIM:248510 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Steppage gait, Continuous spike and waves during slow sleep, Aggr... |
ORPHA:98818 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality |
ORPHA:436151 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Micropenis, Abnormality of the kidney |
ORPHA:75858 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... |
OMIM:301008 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... |
ORPHA:85445 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... |
ORPHA:52368 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait |
OMIM:619470 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Emotio... |
ORPHA:206443 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Increased level of hippuric acid in urine, Hyperactivity, I... |
OMIM:261600 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... |
OMIM:263200 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Recurrent urinary tract infections, Splenomegaly |
OMIM:618495 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Tremor, Hyperactivity, Inabil... |
ORPHA:228360 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, Personality disorder,... |
ORPHA:2382 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney |
OMIM:615415 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... |
ORPHA:88616 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking |
ORPHA:3198 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:608971 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Prominent ear helix, Impulsivity |
ORPHA:100973 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... |
OMIM:125250 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk,... |
OMIM:618718 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Optic atrophy, Focal segmental glomerulosclerosis, Hepatomegaly, Nephrotic... |
OMIM:617303 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hepatomegaly, Tremor, Hyperactivity, Ataxia |
OMIM:615924 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated urinary 4-hydroxybutyric acid, Aggressive behavior, Increased l... |
OMIM:271980 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Granulomatous Slack Skin |
|
Acute kidney injury, Abnormality of the lymph nodes, Nephrocalcinosis |
ORPHA:33111 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Overfolded helix, Cardiomegaly, Pos... |
OMIM:608836 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... |
ORPHA:309246 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia |
OMIM:619126 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia |
OMIM:612716 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Kaposiform Lymphangiomatosis |
|
Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphatic system, Splenome... |
ORPHA:464329 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Renal oncocytoma, Renal cortical adenoma, Abnormality of the lymph nodes, Chronic noninfectious l... |
ORPHA:97290 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Rasmussen Subacute Encephalitis |
|
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... |
ORPHA:1929 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Sple... |
ORPHA:66661 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Nephropathy |
ORPHA:100024 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... |
OMIM:601455 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Gait disturbance, Urinary retention, Dysmetria, Orthostatic ... |
ORPHA:99027 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Asplenia, Polysplenia, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atres... |
OMIM:208540 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait |
ORPHA:411515 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Mediastinal lymphadenopathy, Nephrotic syndrome, Lymphadenopathy, Membranous nephro... |
OMIM:615559 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears |
OMIM:617773 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
H Syndrome |
|
Lymphadenopathy, Hearing impairment, Micropenis, Hepatosplenomegaly, Abnormality of the kidney, E... |
ORPHA:168569 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly |
OMIM:615895 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... |
OMIM:301013 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Optic atrophy, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:618342 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... |
ORPHA:485350 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney |
OMIM:608022 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... |
ORPHA:449395 |
Charcot-Marie-Tooth Disease Type 1F |
|
Steppage gait, Hand tremor, Optic nerve hypoplasia, Absent brainstem auditory responses, Decrease... |
ORPHA:101085 |
Rhabdoid Tumor |
|
Lymphadenopathy, Renal neoplasm, Hematuria, Irritability |
ORPHA:69077 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormality of the lymph n... |
ORPHA:319487 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Abnormality of the pinna, Polysplenia, Enlarged kidney |
OMIM:200995 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Heavy proteinuria, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenome... |
ORPHA:505248 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Impulsivity, Ga... |
ORPHA:500180 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Aggressive behavior, Cardiomegaly, Hearing impairment, Splenomegaly, Hyperactivity,... |
OMIM:252920 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Microtia, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Mood swings, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, M... |
OMIM:300354 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Abnormality of the pinna, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged... |
OMIM:612651 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Alg9-Cdg |
|
Inappropriate crying, Hydronephrosis, Hepatomegaly, Abnormal renal artery morphology, Torticollis... |
ORPHA:79328 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... |
OMIM:276700 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears |
ORPHA:251383 |
Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... |
OMIM:608643 |
Stiff-Person Syndrome |
|
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression |
OMIM:184850 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Large earlobe, EEG with multifocal slow activity, Aggressive behavior, Hyperactivity, Abnormal re... |
OMIM:616809 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, EEG with series of focal spikes, Aggressive behavior, EEG with photoparoxysmal ... |
ORPHA:168491 |
Scrub Typhus |
|
Lymphadenopathy, Splenomegaly, Tremor, Renal insufficiency, Lethargy |
ORPHA:83317 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Low-frequency sensorineural hearing impairment, Splenomegaly |
OMIM:613101 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment |
ORPHA:457260 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears |
OMIM:300831 |
Congenital Toxoplasmosis |
|
Lymphadenopathy, Hepatomegaly, Cardiomegaly, Hearing impairment |
ORPHA:858 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:603552 |
Optic Atrophy 11 |
|
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia |
OMIM:617302 |
Alpha-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Hepatomegaly, Interictal epileptiform activity, Aggressive behavior, Self-mutilatio... |
ORPHA:163681 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232200 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Gait disturbance, Urinary bladder sphincter dysfunction, Aggressi... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior, Macrotia |
OMIM:300558 |
Adult Krabbe Disease |
|
Gait disturbance, Ataxia, Urinary incontinence, EEG abnormality, Broad-based gait, Prolonged brai... |
ORPHA:206448 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadeno... |
ORPHA:85450 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... |
OMIM:232220 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Proximal renal tubular acidosis |
OMIM:615824 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia |
ORPHA:391 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Immunodeficiency 14A, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Lymphadenopathy |
OMIM:619220 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Immunodeficiency 64 |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... |
OMIM:618534 |
Cerebrotendinous Xanthomatosis |
|
Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evoked potentials... |
ORPHA:909 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Immunodeficiency 72 With Autoinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Abnormality of the urinary system, Self-mutilation, ... |
OMIM:182290 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... |
ORPHA:35069 |
Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Sensorineural hearing impairment, Chronic noninfectious lymphadenopathy, Unilateral... |
ORPHA:100084 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Asplenia, Lymphadenopathy, Hematuria, Nephritis, Cervical lymphadenopathy, Proteinuria |
OMIM:614034 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Self-biting, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Glomerulonephritis, Splenomegaly |
OMIM:619375 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, EEG abnorm... |
ORPHA:98794 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Autosomal Recessive Polycystic Kidney Disease |
|
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Oliguria, Acute... |
ORPHA:731 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Exaggerated startle response, Ataxia, Urinar... |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response |
OMIM:272750 |
Immunodeficiency 52 |
|
Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety |
ORPHA:438216 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly, Tremor, Recurrent urinary tract infections, Ataxia |
OMIM:613179 |
Cockayne Syndrome Type 1 |
|
Gait disturbance, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Macrotia, Hea... |
ORPHA:90321 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional labi... |
OMIM:610217 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Sensorineural hearing impairment, Splenomegaly |
OMIM:611762 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Hearing impairment |
ORPHA:369939 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly |
OMIM:612840 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy |
OMIM:212050 |
Cockayne Syndrome A |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, H... |
OMIM:216400 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Abnormality of the pinna, Macrotia, Inappropriate laughter, Hyp... |
OMIM:614104 |
Schnitzler Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Infantile Krabbe Disease |
|
Inappropriate crying, Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing i... |
ORPHA:206436 |
Cinca Syndrome |
|
Lymphadenopathy, Hearing impairment, Papilledema, Hepatosplenomegaly, Progressive sensorineural h... |
OMIM:607115 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... |
OMIM:103050 |
Niemann-Pick Disease, Type A |
|
Athetosis, Hepatomegaly, Lymphadenopathy, Splenomegaly, Inability to walk, Irritability |
OMIM:257200 |
Immunodeficiency 27A |
|
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly |
OMIM:209950 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Posterior helix pit... |
OMIM:130650 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Abnormal earlobe morphology, Otosclerosis, Congenital megaure... |
ORPHA:116 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Tay-Sachs Disease |
|
Gait disturbance, Dystonia, Optic atrophy, Dysmetria, Exaggerated startle response, Laryngeal dys... |
ORPHA:845 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Self-biting, Aggressive behavior, Low-set, posteriorly rotated ears, Hyperactivity, Unilateral re... |
ORPHA:3306 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Cri-Du-Chat Syndrome |
|
Hypospadias, Optic atrophy, Abnormality of the kidney, Aggressive behavior, Conspicuously happy d... |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment |
OMIM:300958 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Sensorineural hearing impairment, Ataxia,... |
ORPHA:36412 |
Sézary Syndrome |
|
Tremor, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes |
ORPHA:543 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Low-set, posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Hepatomegaly, Splenomegaly, Tremor, Hyperactivity, Ataxia, Difficulty wa... |
OMIM:615673 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Hemolytic-uremic syndrome, Hepatosplenomegaly,... |
OMIM:619644 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Abnormal urinary color, Splenomegaly |
ORPHA:56425 |
Chromosome 10Q26 Deletion Syndrome |
|
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Micropenis, Broad-based gai... |
OMIM:609625 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Hypoplasia of penis |
ORPHA:228402 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:607594 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine |
OMIM:252900 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Macrotia, Bifid ureter, Sensorineural hearing impairment, Multicystic kidney d... |
ORPHA:500095 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Aregenerative Anemia |
|
Lymphadenopathy, Bone marrow hypocellularity, Emotional lability, Fatigable weakness of skeletal ... |
ORPHA:101096 |
Indolent Systemic Mastocytosis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98848 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
Cinca Syndrome |
|
Hepatomegaly, Lymphadenopathy, Hearing impairment, Sensorineural hearing impairment, Splenomegaly... |
ORPHA:1451 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Neph... |
ORPHA:79259 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment |
OMIM:600430 |
Cockayne Syndrome B |
|
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... |
OMIM:133540 |
Meacham Syndrome |
|
Horseshoe kidney, Accessory spleen, Enlarged kidney |
OMIM:608978 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irritability, Anxiety, Att... |
ORPHA:449291 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Micropenis, Macrotia |
OMIM:618504 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Sensorineural hearing i... |
ORPHA:3226 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Angelman Syndrome |
|
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormali... |
OMIM:105830 |
Tularemia |
|
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... |
ORPHA:3392 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Nephritis, Splenomegaly, Chronic noninfectious... |
OMIM:603909 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Facial palsy, Lymphadenopathy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Nephroblastoma |
ORPHA:654 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormality of the kidney, Abnormality of the lymph nodes |
ORPHA:54251 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Depression, Bipolar aff... |
OMIM:601853 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Self-mutilation, Macrotia, Hyperactivity, Micropenis, Low frustration tolerance, Gait ataxia, Mic... |
OMIM:300486 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... |
ORPHA:72 |
Mogs-Cdg |
|
Dystonia, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensori... |
ORPHA:79330 |
Lymphoproliferative Syndrome 2 |
|
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:615122 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616651 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymph nodes, Hepatosplenom... |
ORPHA:911 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality |
OMIM:610042 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hepatomegaly, Splenomegaly, Tremor, Hyperactivity, Irritability |
ORPHA:525731 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Hai... |
ORPHA:2388 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:614470 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Hepatomegaly, Lymphadenopathy, Decreased nerve conduction velocity, Splenomegal... |
OMIM:214500 |
Griscelli Syndrome |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia |
ORPHA:381 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low ... |
ORPHA:363686 |
X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal earlobe morphology, Aggressive behavior, Tremor, Hyperactivity, EEG abnormality, Broad-b... |
ORPHA:85293 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Macrotia |
ORPHA:391307 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Boutonneuse Fever |
|
Lymphadenopathy, Renal insufficiency, Cervical lymphadenopathy |
ORPHA:83313 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety |
OMIM:618430 |
Legionnaires Disease |
|
Lymphadenopathy, Hematuria, Bone marrow hypocellularity, Splenomegaly, Ataxia, Proteinuria, Renal... |
ORPHA:549 |
Leprechaunism |
|
Hepatomegaly, Protruding ear, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enl... |
ORPHA:508 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent t... |
OMIM:618935 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:308240 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine |
OMIM:252930 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Lymph node hypoplasia |
ORPHA:276 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Na... |
ORPHA:485405 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Aggressive behavior, Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactiv... |
ORPHA:369891 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Proteinuria |
ORPHA:69126 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Self-injurious behavior, Renal dysplasia, Hypsarrhythmia, Tremor, Hyperactivity, Microp... |
ORPHA:1934 |
Leishmaniasis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:507 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, Splenomegaly |
OMIM:150550 |
Omenn Syndrome |
|
Lymphadenopathy, Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Griscelli Syndrome Type 2 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79477 |
Citrullinemia Type Ii |
|
Hepatomegaly, Aggressive behavior, Tremor, Hyperactivity, Irritability, Enuresis, Lethargy |
ORPHA:247585 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Sensorineural hearing impairment, Hyperactivity, Urinary inco... |
OMIM:609727 |
American Trypanosomiasis |
|
Lymphadenopathy, Hepatomegaly, Aganglionic megacolon, Splenomegaly |
ORPHA:3386 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly |
OMIM:601859 |
Asparagine Synthetase Deficiency |
|
Hypsarrhythmia, Macrotia, Exaggerated startle response |
OMIM:615574 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Optic disc pallor, Lymphadenopathy, Posteriorly rotated ears, Fluctuati... |
OMIM:610377 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Posterior helix pit, Re... |
OMIM:312870 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia, Irritability |
OMIM:267700 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Gait disturbance, Aggressive behavior, Macrotia, Hearing impairment, Hyperactivity, ... |
ORPHA:363528 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Hearing impairment, Splenomegaly, Hyperactivity, Heparan sulfate excretion in urine |
OMIM:252940 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Renal cell carcinoma, Aggressive behavior, Renal cyst, Stage 5 chronic k... |
ORPHA:805 |
Gm1 Gangliosidosis Type 1 |
|
Macrotia, Exaggerated startle response, Hearing impairment, Hepatosplenomegaly, Urinary glycosami... |
ORPHA:79255 |
Potocki-Lupski Syndrome |
|
Hyperactivity, EEG abnormality, Abnormal renal morphology, Hearing impairment |
OMIM:610883 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Protruding ear, Fatigable weakness o... |
ORPHA:166108 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Omenn Syndrome |
|
Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, Splenomegaly |
ORPHA:39041 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Castleman Disease |
|
Ureteral obstruction, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Generalized lympha... |
ORPHA:160 |
Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Hearing impairment, Hypersexuality, Gait disturbance, Mucopolysacchariduria, Conduc... |
ORPHA:581 |
47,Xyy Syndrome |
|
Hypospadias, Hyperactivity, Micropenis, Impulsivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ataxia, Hepatosplenomegaly, Irritability |
OMIM:603553 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation, Hearing impairment |
ORPHA:412035 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dystonia, Optic atrophy, Bradykinesia, Blepharospasm, Tremor, Hyperactivity, Ur... |
OMIM:234200 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Hypsarrhythmia |
OMIM:619239 |
Desmoplastic Small Round Cell Tumor |
|
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:83469 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Lymphadenopathy, Abnormality of the urinary system, Hematuria, Nephritis, Dar... |
ORPHA:93552 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neop... |
ORPHA:97289 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Hydronephrosis, Conductive hearing impairment, Thyroid lymphangiectasia, Intest... |
OMIM:235510 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Lymphadenopathy, Hearing impairment, Splenomegaly, Ataxia, Multifocal epileptiform ... |
ORPHA:33226 |
Agammaglobulinemia, X-Linked |
|
Hearing impairment, Recurrent urinary tract infections, Lymph node hypoplasia |
OMIM:300755 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Micropenis, Low frustration toleran... |
OMIM:300534 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Steroid-dependent nephrotic syndrome, Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia,... |
OMIM:300912 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... |
OMIM:256800 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Irritability, Microtia |
ORPHA:447980 |
Primary Myelofibrosis |
|
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
ORPHA:824 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... |
ORPHA:73272 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Ataxia, Hepatomegaly |
ORPHA:343 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Hyperlysinemia |
|
Opisthotonus, Argininuria, Dysmetria, Cystinuria, Tremor, Hyperactivity, Hypoplasia of the antihe... |
ORPHA:2203 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal renal physiology, Splenomegaly, Sensorineural hearing imp... |
ORPHA:540 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Dystonia, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle r... |
ORPHA:521426 |
Felty Syndrome |
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Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Recurrent urinary tract... |
ORPHA:47612 |
Mend Syndrome |
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Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials |
ORPHA:401973 |
Lymphatic Filariasis |
|
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Hematuria, Urethral obstruc... |
ORPHA:2035 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:616100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Aggressive behavior, Hyperactivity, Emotional lability, Abnormally folded helix, Low frustration ... |
OMIM:309520 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Conductive hearing impairment, Self-injurious behavior, Sensorineural hearing impair... |
ORPHA:254346 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Diffuse Cutaneous Mastocytosis |
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Lymphadenopathy, Abnormality of the spleen, Hepatomegaly |
ORPHA:79456 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Oliguria, Progressive hearing impairment |
ORPHA:514 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Nephropathy |
ORPHA:809 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Lig4 Syndrome |
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Lymphadenopathy, Hepatomegaly, Hypoplasia of penis |
ORPHA:99812 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Large earlobe, Hydronephrosis, Abnormal earlobe morphology, Self-injurious behavior,... |
ORPHA:96121 |
Hyper-Igd Syndrome |
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Optic disc pallor, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Renal angiom... |
OMIM:260920 |
Joubert Syndrome 1 |
|
Optic disc pallor, Aggressive behavior, Self-mutilation, Renal cyst, Optic disc coloboma, Hyperac... |
OMIM:213300 |
Glass Syndrome |
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Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Aggressive Systemic Mastocytosis |
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Lymphadenopathy, Hepatosplenomegaly, Hypersplenism |
ORPHA:98850 |
Cyclic Neutropenia |
|
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis |
ORPHA:2686 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:169090 |
Stankiewicz-Isidor Syndrome |
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Hypospadias, Ureteral duplication, Abnormality of the optic disc, Hearing impairment, Hyperactivi... |
OMIM:617516 |
Lymphoproliferative Syndrome 1 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:613011 |
Brain-Lung-Thyroid Syndrome |
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Hypospadias, Dystonia, Megacystis, Falls, Intention tremor, Sensorineural hearing impairment, Hyp... |
ORPHA:209905 |
Argininemia |
|
Hepatomegaly, Oroticaciduria, Spastic gait, Diaminoaciduria, Hyperactivity, Irritability |
OMIM:207800 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Renal insufficiency, Tubulointerstitial nephritis, Lymphadenopathy, Nephrotic syndrome |
ORPHA:139402 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Hypospadias, Aggressive behavior, Posteriorly rotated ears, Hearing impairment, Left ventricular ... |
OMIM:619148 |
Macrophage Activation Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:158061 |
Lymphangioleiomyomatosis |
|
Optic atrophy, Lymphadenopathy, Hematuria, Abnormality of the lymphatic system, Pulmonary lymphan... |
ORPHA:538 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly |
OMIM:308230 |
Klatskin Tumor |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response |
OMIM:617301 |
African Trypanosomiasis |
|
Gait disturbance, Hepatomegaly, Lymphadenopathy, Aggressive behavior, Apathy, Splenomegaly, Tremo... |
ORPHA:3385 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy, Glomerulonephritis |
OMIM:304790 |
Chédiak-Higashi Syndrome |
|
Gait disturbance, Lymphadenopathy, Decreased nerve conduction velocity, Splenomegaly, Tremor, Ata... |
ORPHA:167 |
Koolen-De Vries Syndrome |
|
Hydronephrosis, Overfolded helix, Conspicuously happy disposition, Macrotia, Recurrent urinary tr... |
OMIM:610443 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Lymphadenopathy, Cardiomegaly, Splenomegaly, Hearing impairment, Sensorineural hear... |
OMIM:602782 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
White-Sutton Syndrome |
|
Optic atrophy, Self-injurious behavior, Aggressive behavior, Duplicated collecting system, Poster... |
ORPHA:468678 |
Legius Syndrome |
|
Dystonia, Male urethral meatus stenosis, Vestibular Schwannoma, Nephrolithiasis, Hearing impairme... |
ORPHA:137605 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Irritability |
ORPHA:39812 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Gait disturbance, Hydronephrosis, Optic disc pallor, Pelvic kidney, Renal cyst, Macr... |
ORPHA:464306 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Torticollis, Isometric tremor, Hearing impairment, Micropenis, Irritability, Anxiety... |
OMIM:619475 |
Gamma-Heavy Chain Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100026 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Small earlobe, Exaggerated s... |
OMIM:619522 |
Lissencephaly 10 |
|
Torticollis, Suicidal ideation, Aggressive behavior, EEG abnormality, Depression, Bipolar affecti... |
OMIM:618873 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils |
OMIM:606367 |
Distal Trisomy 17Q |
|
Low-set, posteriorly rotated ears, Renal duplication, Hyperactivity, Accessory spleen, Bilateral ... |
ORPHA:3379 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly |
OMIM:614700 |
Multiple Myeloma |
|
Nephrotic syndrome, Lymphadenopathy, Splenomegaly, Acute kidney injury, Nephropathy, Abnormality ... |
ORPHA:29073 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Decreased urinary urate, Ataxia |
ORPHA:760 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Aganglionic megacolon, Elevated urinary epinephrine, Elevated urinary vanill... |
ORPHA:653 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention |
ORPHA:79124 |
Riddle Syndrome |
|
Gait disturbance, Enuresis nocturna, Ataxia, Generalized lymphadenopathy, Emotional lability |
ORPHA:420741 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Conductive hearing impairmen... |
ORPHA:353281 |
Acute Promyelocytic Leukemia |
|
Lymphadenopathy, Hematuria |
ORPHA:520 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia, ... |
OMIM:615688 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Ataxia, Generalized ... |
ORPHA:50918 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Optic atrophy, Hepatomegaly, Otosclerosis, Aggressive behavior, De... |
ORPHA:580 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hearing impairment, Hyperactivity, Inability to walk, Ataxia, Diffic... |
ORPHA:139396 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Horseshoe kidney, Conductive hearing impairment, Lymphadenopathy, Lym... |
ORPHA:2136 |
Poems Syndrome |
|
Lymphadenopathy, Papilledema, Visceromegaly |
ORPHA:2905 |
Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices, Aggressive behavior, Hyperactivity, Low frustration tolerance, Anxiety |
ORPHA:319182 |
Behçet Disease |
|
Gait disturbance, Lymphadenopathy, Splenomegaly, Ataxia, Irritability, Glomerulopathy, Renal insu... |
ORPHA:117 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Splenomegaly, Nephropathy, Proteinuria |
ORPHA:342 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:617591 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hypsarrhythmia, Hyperactivity, Urinary incontinence, Irritability, Protruding ear |
ORPHA:447997 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Profound hearing impairment, Hepatomegaly, Lymphadenopathy, Splenomegaly, Accessory spleen, Bilat... |
OMIM:619418 |
Distal Monosomy 12Q |
|
Hydronephrosis, Self-mutilation, Prominent ear helix, Bilateral conductive hearing impairment, Co... |
ORPHA:96149 |
Malakoplakia |
|
Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, Dysuria, Proteinuria... |
ORPHA:556 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Renal hypoplasia, Hydronephrosis, Aganglionic megacolon, Renal agenesis, Aggressive ... |
OMIM:270400 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Lymphadenopathy, Abnormality of the peripheral nervous system, Depr... |
ORPHA:289390 |
Q Fever |
|
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Hepatosplenomegaly |
ORPHA:781 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly |
OMIM:233710 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear |
OMIM:614756 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment, Tremor, Splenomegaly |
ORPHA:667 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy, Tubulointerstitial fibrosis |
OMIM:607944 |
Brucellosis |
|
Hepatomegaly, Lymphadenopathy, Abnormality of the peripheral nervous system, Splenomegaly, Intrar... |
ORPHA:1304 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly |
OMIM:233690 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of peripheral nerve conduction, Orthostatic hypotension due to autonomic dysfunction,... |
ORPHA:642 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Optic atrophy, Self-injurious behavior, Macrotia, Posteriorly rotated ears, Sensorineural hearing... |
OMIM:619512 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadenopathy, Membranous nephropathy, Spleno... |
ORPHA:37042 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the kidne... |
ORPHA:228123 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Fatiguable weakness of proximal limb muscles, Increased urinary cortisol level, Neoplasm of the t... |
ORPHA:99889 |
Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:199241 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hypersplenism, Chronic ... |
ORPHA:3261 |
Chikungunya |
|
Lymphadenopathy, Diminished motivation, Depression, Cervical lymphadenopathy |
ORPHA:324625 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Plague |
|
Hepatomegaly, Enlarged mesenteric lymph node, Lymphadenitis, Splenomegaly, Hearing impairment, Un... |
ORPHA:707 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Ileal Neuroendocrine Tumor |
|
Lymphadenopathy, Hydronephrosis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Lymphadenopathy, Hydronephrosis |
ORPHA:100077 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy |
OMIM:617718 |
Thymic Aplasia |
|
Lymphadenopathy, Recurrent urinary tract infections, Aplasia of the thymus |
ORPHA:83471 |
Pancreatoblastoma |
|
Abnormality of the lymph nodes |
ORPHA:677 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Hydronephrosis, Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Inabi... |
ORPHA:438213 |
Selective Igm Deficiency |
|
Lymphadenopathy, Recurrent urinary tract infections, Lymphadenitis |
ORPHA:331235 |
Coffin-Siris Syndrome |
|
Hypospadias, Horseshoe kidney, Aggressive behavior, Hearing impairment, Hyperactivity |
ORPHA:1465 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Tangier Disease |
|
Orange discolored tonsils, Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Chr... |
ORPHA:31150 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hypospadias, Abnormal fear/anxiety-related behavior, Hydronephrosis, Conductive hearing impairmen... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|