Gene Summary

vaccinia related kinase 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Vrk3em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Vrk3em1(IMPC)Mbp HOM Late adult 0.00
scaly skin Vrk3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Vrk3em1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Dorso Ventral

60 Images


XRay Images Whole Body Dorso Ventral

52 Images



82 Images


XRay Images Whole Body Lateral Orientation

22 Images


XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Vrk3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vrk3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness OMIM:618221
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Apathy, Bradyk... ORPHA:412066
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Sagliker Syndrome
Anxiety, Waddling gait, Depression ORPHA:300493
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... ORPHA:96369
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment OMIM:123400
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Leg dystonia, Agoraphobia, Fatigable weakness, Inabilit... ORPHA:255
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... ORPHA:401901
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Dry skin, Erythema, Scaling skin ORPHA:530838
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior OMIM:618286
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression OMIM:614296
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Poor eye contact OMIM:300983
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts, Decreased glomerular filt... ORPHA:730
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Impaired social interactions ORPHA:397933
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:770
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Frontotemporal dementia, Anxiety, Mental deterioration, D... ORPHA:100070
Huntington Disease-Like 1
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression OMIM:603218
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Aicardi-Goutieres Syndrome 5
Dry skin, Thrombocytopenia, Scaling skin OMIM:612952
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Anxiety, Depression OMIM:605909
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... OMIM:604326
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Elevated hepatic transaminase, Exercise-induced myoglobinuria, Acute kidney ... ORPHA:284426
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Kaposiform Lymphangiomatosis
Ecchymosis, Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of ... ORPHA:464329
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Ascites, Glomer... OMIM:276700
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Dry skin, Cutis laxa, Epidermal acanthosis ORPHA:2269
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
No social interaction, Aggressive behavior, Impaired social interactions ORPHA:329249
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... ORPHA:71517
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Migraine, Familial Hemiplegic, 1
Anxiety, Ataxia OMIM:141500
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Centrifugal Lipodystrophy
Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Polysplenia... OMIM:200995
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Geniospasm 1
Anxiety OMIM:190100
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
Scaling skin, Dry skin OMIM:257960
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Psoriasiform lesion, Lymphadenopathy, Decreased proportion of CD3-positive T cells, ... ORPHA:169154
Acrokeratosis Verruciformis
Epidermal acanthosis OMIM:101900
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Decreased proportion of CD4+CD25+ regulato... OMIM:606367
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment ORPHA:1020
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Psoriasis 2
Scaling skin, Epidermal acanthosis OMIM:602723
Peeling Skin Syndrome 1
Scaling skin, Erythema OMIM:270300
Spinocerebellar Ataxia 48
Dystonia, Dysmetria, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, Depression OMIM:618093
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Cole Disease
Epidermal acanthosis OMIM:615522
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... ORPHA:163681
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Bradyphrenia, Suicidal ideation, Aggressive behavior,... ORPHA:399
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Raynaud-Claes Syndrome
Aggressive behavior, Progressive cerebellar ataxia, Anxiety, Depression, Bipolar affective disorder OMIM:300114
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Lipid accumulation in ... OMIM:608836
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Childhood Absence Epilepsy
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... ORPHA:64280
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Petechiae, Nodular regenerative hype... OMIM:619463
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly ORPHA:75563
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Trisomy X
Attention deficit hyperactivity disorder, Anxiety, Cognitive impairment, Depression ORPHA:3375
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked 9
Anxiety, Aggressive behavior OMIM:309549
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology ORPHA:79147
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Hypotrichosis Simplex Of The Scalp
Scaling skin, Epidermal acanthosis ORPHA:90368
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of penis, Nephroblastoma ORPHA:2849
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:613670
Immunodeficiency 8
Hyperactivity OMIM:615401
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Dry skin, ... ORPHA:2584
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnorma... ORPHA:2470
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Dry skin, Erythema, Scaling skin OMIM:614457
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis OMIM:616295
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Attention deficit hypera... ORPHA:449291
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Atypical Rett Syndrome
Inappropriate crying, Gait disturbance, Dystonia, Poor eye contact, Inappropriate laughter, Loss ... ORPHA:3095
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Proteus Syndrome
Lymphangioma, Epidermal acanthosis, Splenomegaly OMIM:176920
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Ataxia, Anxiety, Depression, Difficulty walking OMIM:619425
Graft Versus Host Disease
Lymphadenopathy, Acute hepatitis, Hepatosplenomegaly, Scaling skin, Elevated hepatic transaminase... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating follicle stimulating hormone level, Scaling skin, Unilateral renal agenesis,... OMIM:618419
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Ataxia, Dysdiadocho... OMIM:615157
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Scaling skin, Unilateral renal agenesis, Dry skin,... OMIM:308205
Renal cortical cysts, Decreased response to growth hormone stimulation test, Scaling skin ORPHA:79323
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Pallor, Hemolytic anemia ORPHA:56425
Feingold Syndrome Type 2
Anxiety, Emotional lability ORPHA:391646
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis OMIM:607936
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... ORPHA:449395
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... OMIM:168605
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Hematuria, Splenomegaly, Abnormality of the... ORPHA:91138
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Anxiety, Dementia OMIM:204200
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... OMIM:608022
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Parkinsonism With Polyneuropathy
Anxiety, Depression, Bradykinesia OMIM:619279
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Anxiety, Dementia, Depression ORPHA:411590
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Posterior Cortical Atrophy
Ataxia, Anxiety, Inertia, Memory impairment ORPHA:54247
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ps... OMIM:614700
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Anxiety, Aggressive behavior, Skin-picking OMIM:618512
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Adiposis Dolorosa
Anxiety, Depression OMIM:103200
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Dry skin, Epidermal acanthosis OMIM:612281
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Bathing Suit Ichthyosis
Scaling skin, Epidermal acanthosis ORPHA:100976
Tonne-Kalscheuer Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Broad-based gait, Anxiety OMIM:300978
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Bacterial Toxic-Shock Syndrome
Ecchymosis, Increased circulating myelocyte count, Peritonitis, Hepatitis, Increased circulating ... ORPHA:36234
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Amyotrophic lateral sclerosis, Emotio... ORPHA:803
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Petechiae, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Emotional lab... ORPHA:309271
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis OMIM:617525
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Primary Myelofibrosis
Ecchymosis, Hepatomegaly, Leukocytosis, Thrombocytosis, Petechiae, Lymphadenopathy, Anemia, Splen... ORPHA:824
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Dystonia, Progressive gait ataxia, Emotional lability, Abn... ORPHA:309263
Beta-Thalassemia Intermedia
Splenomegaly, Hepatosplenomegaly, Pallor, Skin ulcer, Anemia of inadequate production, Jaundice, ... ORPHA:231222
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder OMIM:618725
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Unst... ORPHA:1942
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Ataxia OMIM:618970
Rolandic Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:1945
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Dementia, Motor deterioration, Bradyphrenia, Cognitive impairment, Apathy, Emot... ORPHA:136
Posttransplant Acute Limbic Encephalitis
Dystonia, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impairment ORPHA:163921
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Progressive gait ataxia, Emotional lability, Tip-toe gait, Abnormal social behavior, Ga... ORPHA:309256
Ichthyosis Vulgaris
Dry skin, Absent keratohyalin granules OMIM:146700
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Hepatoblastoma, Nephrolithias... OMIM:130650
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
H Syndrome
Lymphadenopathy, Hepatosplenomegaly, Micropenis, Microcytic anemia, Decreased testicular size, Ab... ORPHA:168569
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Waddling gait, Difficulty walking ORPHA:280763
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... ORPHA:158029
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Inappropriate laughter, H... OMIM:103050
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Dystonia, Dementia, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary mo... OMIM:200150
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... ORPHA:309246
Atrophoderma Vermiculata
Erythema, Abnormal epidermal morphology ORPHA:79100
Distal Xq28 Microduplication Syndrome
Self-biting, Aggressive behavior, Poor eye contact, Tip-toe gait, Impulsivity, Anxiety, Attention... ORPHA:293939
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, ... ORPHA:79259
Jansen-De Vries Syndrome
Anxiety, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617450
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Pemphigus Foliaceus
Scaling skin, Erythema, Acantholysis, Skin vesicle ORPHA:79481
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Impulsivity OMIM:617991
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Inherited Creutzfeldt-Jakob Disease
Dementia, Akinetic mutism, Progressive forgetfulness, Apathy, Bradykinesia, Progressive cerebella... ORPHA:282166
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Fragile X Tremor/Ataxia Syndrome
Dementia, Dysmetria, Bradykinesia, Impaired tandem gait, Dysdiadochokinesis, Disinhibition, Menta... OMIM:300623
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Attention deficit hyperactivity disorder ORPHA:261102
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Polycythemia, Congenital megaureter, Cardiomegaly, Hepatoblas... ORPHA:116
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Nephroblastoma, Hydrocele testis... ORPHA:276280
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... OMIM:610333
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Hydronephrosis ORPHA:35173
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, Anemia, Hepatospl... ORPHA:505248
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Lamb-Shaffer Syndrome
Abnormal social behavior, Hyperactivity, Ataxia ORPHA:530983
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysmetria, Aggressive behavior, Ataxia, Dysdiadochokinesis, Anxiety OMIM:618356
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Rat-Bite Fever
Lymphadenitis, Anemia, Pancreatitis, Abdominal aseptic abscess, Parotitis, Scaling skin ORPHA:31205
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Anxiety, Impaired social interactions, Depression OMIM:618798
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytos... ORPHA:79477
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... OMIM:601346
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Autism, Susceptibility To, 18
Anxiety OMIM:615032
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Intellectual Developmental Disorder With Neuropsychiatric Features
Anxiety OMIM:617532
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Pyoderma gangrenosum, Sp... OMIM:150550
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Pallor, Hemolytic anemia, Abnormal leukocyte morphology ORPHA:98375
Kosaki Overgrowth Syndrome
Anxiety, Depression, Progressive neurologic deterioration OMIM:616592
Hypospadias, Micropenis, Hyperechogenic kidneys, Cryptorchidism, Microphallus, Enlarged kidney OMIM:612651
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis ORPHA:79148
Usher Syndrome Type 1
Ataxia, Anxiety, Depression ORPHA:231169
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Motor deterioration, Cognitive impairment, Loss of ability to walk, Emotional lability,... ORPHA:79264
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Usher Syndrome Type 3
Ataxia, Anxiety, Depression ORPHA:231183
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Elevated hep... ORPHA:158057
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Epidermal acanthosis, Splenomegaly, Hypereosinophilia, Dry skin, Autoimmune hemolyt... OMIM:617388
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Multiple glomerular cys... OMIM:267010
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Mal De Débarquement
Unsteady gait, Anxiety, Gait imbalance ORPHA:210272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Overfriendl... OMIM:123450
Immunodeficiency 32B
Splenomegaly OMIM:226990
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... ORPHA:43
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Suicidal ideation, Cognitive impairment, Anxiety, Attention deficit hyperact... ORPHA:98784
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Mal De Meleda
Erythema, Epidermal acanthosis ORPHA:87503
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Generalized Epilepsy With Febrile Seizures-Plus
Anxiety, Cognitive impairment, Ataxia, Bradykinesia ORPHA:36387
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... OMIM:235555
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Luscan-Lumish Syndrome
Anxiety, Aggressive behavior, Shyness OMIM:616831
Classic Galactosemia
Gait disturbance, Dystonia, Gait imbalance, Ataxia, Mental deterioration, Anxiety, Attention defi... ORPHA:79239
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613159
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Cholangitis, Jaundice, Dry skin, Epidermal acanthosis OMIM:607626
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Abnormal urinary c... ORPHA:90033
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Parkes Weber Syndrome
Urinary retention, Abnormal lymphatic vessel morphology, Abnormality of the urinary system, Nephr... ORPHA:90307
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Anxiety OMIM:606703
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hepatic cyst... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... OMIM:309520
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... OMIM:612714
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Immunodeficiency 58
Scaling skin, Dysuria, Psoriasiform lesion OMIM:618131
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Riddle Syndrome
Scaling skin, Generalized lymphadenopathy, Erythema, Enuresis nocturna ORPHA:420741
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... ORPHA:35069
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Horseshoe kidney, Renal Fanconi syndro... ORPHA:93111
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Skin ulcer ORPHA:834
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Central Diabetes Insipidus
Anxiety, Depression, Lethargy ORPHA:178029
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Omenn Syndrome
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Pseudo-Torch Syndrome 1
Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, T... OMIM:251290
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Erythema, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... ORPHA:822
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... OMIM:603903
Niemann-Pick Disease Type C
Gait disturbance, Dementia, Dystonia, Axial dystonia, Aggressive behavior, Cognitive impairment, ... ORPHA:646
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Refractory sideroblastic anemia, 3-Methylglutaric aciduria, Pancreatic fi... OMIM:557000
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Apathy, Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Anxiety, L... ORPHA:227510
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Abnormal renal physiology, Ane... ORPHA:540
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavio... ORPHA:314647
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... OMIM:256550
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Xq28 (MECP2) duplication
Anxiety, Inability to walk, Gait ataxia, Depression DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Dry skin, Elevated hepatic transaminase, Proximal tubulopathy, Splenomegaly, Cirrho... OMIM:614576
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Sézary Syndrome