Gene Summary

Name:
Rho guanine nucleotide exchange factor (GEF) 16
Synonyms:
Neuroblastoma

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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 kidney morphology Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Arhgef16em1(IMPC)Mbp HOM   Early adult 1.68×10-12
enlarged kidney Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Arhgef16em1(IMPC)Mbp HOM Early adult 1.97×10-07

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Arhgef16 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 Arhgef16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxie... ORPHA:468726
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Atrial septal defect, Aggressive behavior, Attention deficit hyperact... ORPHA:254351
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Immunodeficiency 8
Hyperactivity OMIM:615401
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Pandas
Claustrophobia, Depression, Agoraphobia, Enuresis, Emotional lability, Separation insecurity, Imp... ORPHA:66624
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Hepatomegaly... OMIM:615415
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinuria, Impulsivity, Irritability, Hyperactivity OMIM:605899
Hyperprolinemia, Type I
Aggressive behavior, Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperactivity OMIM:239500
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Depression, Bradykinesia, Urinary urgency, Anxiety OMIM:605909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Increased... OMIM:261600
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Aggressive behavior, Hyperactivity OMIM:248510
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Recurrent urinary... ORPHA:730
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Dilated cardiomyopathy, Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Po... OMIM:608836
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Aggressive behavior, Heparan sulfate excretion in urine, Hepatomeg... OMIM:252920
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomyopathy, Cardiomegaly, Nephropathy ORPHA:85447
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Atrial septal defect, Focal segmental glomerulosclerosis, Enlarged kidney, Hyp... OMIM:617303
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Ataxia, Hyperactivity OMIM:615924
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Aggressive behavior, Increased level of gamma-aminobutyri... OMIM:271980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Depression, Limb ataxia, Gait disturbance, Ataxia, 3-Methylglutaconi... OMIM:619259
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Aortic va... OMIM:208540
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Patent foramen ovale, A... OMIM:617044
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618504
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ... OMIM:276700
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Atrial septal defect, Patent foramen ovale, Enlarged kidney, Abnormal heart mo... ORPHA:505248
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy, Hyperactivity OMIM:274270
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Self-biting, Renal magnesium wasting, Hyperactivity OMIM:618314
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Splenomegaly, Dysme... OMIM:256550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Beck-Fahrner Syndrome
Ventricular septal defect, Depression, Anxiety, Cardiomegaly, Attention deficit hyperactivity dis... OMIM:618798
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Lethargy, Cardiomegaly, Hepatomegaly OMIM:255120
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pericardial effusion, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Refsum Disease, Classic
Abnormal renal physiology, Ataxia, Cardiomegaly, Cardiomyopathy OMIM:266500
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232220
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Aggressive behavior, Hyperactivity OMIM:615824
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly OMIM:269920
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Paroxysmal bursts of laughter, Abnormal concentration of acylc... ORPHA:391428
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Ventricular septal defect, Unilateral renal agenesis, Self-biting, Hyperacti... ORPHA:3306
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxyli... ORPHA:42
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Coffin-Siris Syndrome 7
Hyperactivity, Abnormal cardiac septum morphology, Abnormal heart morphology OMIM:618027
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Ventricular septal defect, Abnormal right ventr... ORPHA:500095
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction OMIM:253250
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
H Syndrome
Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Dysplastic pulmonary valve OMIM:300958
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hype... OMIM:201475
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction, Disinhibition, Aggressive behavior, Ga... ORPHA:43
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Atrial septal defect, Attention deficit hyperactivity disorder, Abnormal heart mor... ORPHA:352490
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Ataxia, Cardiomegaly, Cardiomyopathy OMIM:105210
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Hy... OMIM:252900
Smith-Magenis Syndrome
Self-mutilation, Abnormal renal morphology, Abnormal heart morphology, Abnormality of the urinary... OMIM:182290
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Nephropathy, Hepatom... ORPHA:116
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, M... ORPHA:449291
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Abnormal renal collecting system morphology, Aggressive behavior OMIM:616809
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis OMIM:600430
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Hyperactivity, Hypoplasia of penis ORPHA:228402
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morpholog... ORPHA:485405
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Hyperactivity, Hypospadias, Micropenis, Mood swings OMIM:300354
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Myoglobinuria, Hepato... ORPHA:228308
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Hyperactivity OMIM:619239
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr... ORPHA:79259
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis, Hy... ORPHA:508
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity OMIM:300624
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Apathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hepatomegaly, Limb dystonia, Hyperactivity ORPHA:363400
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Torticollis, Cardiomegaly, Ventricular septal defect OMIM:617022
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Pollakisuria, Right ventricular hypertrophy, Cardiomegaly, Tip-toe gait ORPHA:268
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Sickle Cell Anemia
Hematuria, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Self-mutilation, Aggressive behavior, Difficulty walking, Anxiet... OMIM:123450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Irritability, Cardiomegaly OMIM:618278
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Hy... OMIM:252930
Complete Atrioventricular Septal Defect
Lethargy, Complete atrioventricular canal defect, Hepatomegaly, Displacement of the papillary mus... ORPHA:1329
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Aggressive behavior, Ventricular septal defect, Emotional lability, Low fru... OMIM:309520
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity ORPHA:35069
Developmental And Epileptic Encephalopathy 95
Inability to walk, Inappropriate laughter, Inappropriate crying, Gait disturbance, Ataxia, Hepato... OMIM:618143
Spastic Paraplegia 29, Autosomal Dominant
Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency, Hyperactivity OMIM:609727
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Nephroblastoma, Dupl... OMIM:312870
Intellectual Developmental Disorder, X-Linked 98
Urinary incontinence, Ataxia, Hyperactivity OMIM:300912
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Gaucher Disease, Perinatal Lethal
Akinesia, Apathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Maternal Phenylketonuria
Abnormal renal morphology, Abnormal heart morphology, Ventricular septal defect, Double outlet ri... ORPHA:2209
Sandhoff Disease
Ataxia, Urinary incontinence, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Hyperactivity, Hypospadias, Ureteral duplication, ... OMIM:617516
Potocki-Lupski Syndrome
Patent foramen ovale, Abnormal renal morphology, Atrial septal defect, Hyperactivity OMIM:610883
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Mucopolysaccharidosis Type 3
Disinhibition, Aggressive behavior, Hyperactivity, Abnormal mitral valve morphology, Mucopolysacc... ORPHA:581
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Aggressive behavior, Vesicoureteral reflux, Hyperactivity, Micropenis, Broa... OMIM:609625
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Ventricular septal defect, Abnormal heart morphology, Ataxia, Hyperactivity,... ORPHA:369891
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Hy... OMIM:252940
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aggressive behavior, Hyperactivity, Depression, Renal angiomyolipoma, Self-i... ORPHA:805
47,Xyy Syndrome
Impulsivity, Hyperactivity, Hypospadias, Micropenis, Attention deficit hyperactivity disorder ORPHA:8
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Argininemia
Hyperactivity, Hepatomegaly, Spastic gait, Irritability, Oroticaciduria, Diaminoaciduria OMIM:207800
Mend Syndrome
Aortic valve stenosis, Hyperactivity OMIM:300960
19P13.3 Microduplication Syndrome
Hyperactivity, Self-injurious behavior, Irritability, Ventricular septal defect ORPHA:447980
Fucosidosis
Mucopolysacchariduria, Cardiomegaly, Hepatomegaly ORPHA:349
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Aggressive behavior, Gait disturbance, Impulsivity, Medullary nephrocalcino... ORPHA:363528
Brain-Lung-Thyroid Syndrome
Dystonia, Megacystis, Atrial septal defect, Ventricular septal defect, Ataxia, Vesicoureteral ref... ORPHA:209905
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Low frustration tolerance, Hyperactivity, Hypospadias ORPHA:363686
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity OMIM:614613
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Hyperactivity, Hypospadias ORPHA:254346
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Fucosidosis
Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Enuresis, Hepatomegaly, Irritability, Hyperactivity ORPHA:247585
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent urinary tract infections, Pulmonic ste... OMIM:610443
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Nephropathy, Ataxia, Renal cyst, Hyperactivity OMIM:213300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardio... ORPHA:308552
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Pericardial effusion, Vesicour... OMIM:235510
Pediatric-Onset Graves Disease
Hepatomegaly, Splenomegaly, Irritability, Hyperactivity, Mood swings ORPHA:525731
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aggressive behavior, Ventricular septal defect, Self-injurious behavior, Un... ORPHA:96121
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Microphallus, Gait ataxia, Micropenis, Hyperactivity OMIM:300486
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Penoscrotal transposition, Pulmonic stenosis, Left ventricular hypertrophy, ... OMIM:619148
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Cardiomegaly, S... OMIM:602782
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Aggressive behavior, Ventricular septal defect, Ataxia, Impulsivity, Right ... OMIM:300967
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Aggressive behavior, Hyperactivity, Abnormal heart morphology, Ventricular ... ORPHA:353281
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal heart morphology OMIM:615873
Bohring-Opitz Syndrome
Inability to walk, Nephroblastoma, Cardiomegaly, Urinary retention, Abnormal cardiac septum morph... ORPHA:97297
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Gait disturbance, Unilateral renal agenesis, Aortic valve stenosis, Re... ORPHA:464306
Williams Syndrome
Abnormal endocardium morphology, Recurrent urinary tract infections, Abnormality of the bladder, ... ORPHA:904
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Histiocytoid Cardiomyopathy
Lethargy, Ventricular septal defect, Hepatomegaly, Renal cyst, Cardiomegaly ORPHA:137675
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Broad-based gait, Hypoplasia of penis ORPHA:85293
Abetalipoproteinemia
Gait ataxia, Ataxia, Hepatomegaly, Cardiomegaly, Dysmetria, Steppage gait, Broad-based gait ORPHA:14
White-Sutton Syndrome
Aggressive behavior, Abnormal heart morphology, Self-injurious behavior, Duplicated collecting sy... ORPHA:468678
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Urinary in... OMIM:234200
Coffin-Siris Syndrome
Atrial septal defect, Horseshoe kidney, Aggressive behavior, Abnormal heart morphology, Ventricul... ORPHA:1465
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Left ventricular hypertrophy, Cardiomegaly, Bicuspid aortic valve, Patent f... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:252500
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Aicardi-Goutières Syndrome
Dystonia, Difficulty walking, Irritability, Cardiomegaly, Hepatosplenomegaly, Micropenis, Hypertr... ORPHA:51
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Ataxia, Hyperactivity ORPHA:760
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, Ventricular septal defect, Self-injurious behavior, Renal dysplasia, H... ORPHA:1934
Distal Monosomy 12Q
Self-mutilation, Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Ectopic kidney,... ORPHA:96149
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Atrial septal defect, Inappropriate crying, Hyperactivity ORPHA:261323
Mucopolysaccharidosis Type 2
Aggressive behavior, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Abnorm... ORPHA:580
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Difficulty walking, Oligosacchariduria, Hepatomegaly, Left ventricular hypertr... ORPHA:365
Distal Trisomy 17Q
Hyperactivity, Vesicoureteral reflux, Renal duplication, Abnormal heart morphology ORPHA:3379
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Wiedemann-Steiner Syndrome
Aggressive behavior, Dilatation of renal calices, Low frustration tolerance, Anxiety, Hyperactivity ORPHA:319182
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Smith-Lemli-Opitz Syndrome
Self-mutilation, Atrial septal defect, Aggressive behavior, Ventricular septal defect, Renal hypo... OMIM:270400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Ventricular septal defect, Duplicated collecting system, Pulmonic stenosis,... OMIM:607721
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Agoraphobia, Emotional lability, Panic attack, Vesicoureteral... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Agoraphobia, Emotional lability, Panic attack, Vesicoureteral... ORPHA:353277
Hyperlysinemia
Decreased urine alpha-ketoglutarate concentration, Cystinuria, Argininuria, Dysmetria, Hyperactiv... ORPHA:2203
Oculoectodermal Syndrome
Hyperactivity, Atrial septal defect, Bladder exstrophy, Hypertrophic cardiomyopathy OMIM:600268
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Tetrasomy 9P
Multiple renal cysts, Horseshoe kidney, Pericarditis, Abnormal mitral valve morphology, Recurrent... ORPHA:3310
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Mend Syndrome
Hyperactivity, Aortic valve stenosis, Aggressive behavior, Abnormal heart morphology ORPHA:401973
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence, Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Pericardial effusion, Myocardial calcification, Corti... ORPHA:51608
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Nijmegen Breakage Syndrome
Hyperactivity, Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Cardiomegaly, Hypospa... ORPHA:3472
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Monosomy 22Q13.3
Hair-pulling, Recurrent pyelonephritis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, H... ORPHA:48652
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Waddling gait, Cardiomegaly, Aortic valve calc... OMIM:182250
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hyperactivity ORPHA:457284
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Rubinstein-Taybi Syndrome 1
Self-mutilation, Atrial septal defect, Ventricular septal defect, Abnormality of the urinary syst... OMIM:180849
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Hyperactivity, Abnormal heart morphology, Ventricular septal defect, Complete... ORPHA:508488
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Renal hypoplasia, Paroxysmal bursts of laughter, Vesicoureteral reflux, Hyperactivity, Hypospadia... OMIM:309580

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arhgef16

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arhgef16.

No publications found that use IMPC mice or data for Arhgef16.

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MGI Allele Allele Type Produced
Arhgef16em1(IMPC)Mbp Exon Deletion Mice, Tissue

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