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Gene: Pak2 MGI:1339984

Gene Summary

Name:

p21 (RAC1) activated kinase 2

Synonyms:

PAK-2, D16Ertd269e, A130002K10Rik, 5330420P17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased circulating amylase level	Pak2^em1(IMPC)H	HET	Early adult	1.88×10^-06
embryonic lethality prior to tooth bud stage	Pak2^em1(IMPC)H	HOM	E12.5	0.00
increased mean corpuscular hemoglobin	Pak2^em1(IMPC)H	HET	Early adult	5.72×10^-11
increased mean corpuscular volume	Pak2^em1(IMPC)H	HET	Early adult	4.62×10^-05
preweaning lethality, complete penetrance	Pak2^em1(IMPC)H	HOM	Early adult	0.00
prolonged RR interval	Pak2^em1(IMPC)H	HET	Early adult	8.48×10^-06

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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

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Pak2 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.

Human diseases associated with Pak2 (2 diseases)
Human diseases predicted to be associated with Pak2 (649 diseases)

The table below shows human diseases associated to Pak2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Knobloch Syndrome		Occipital encephalocele, Hydrocephalus	ORPHA:1571
Knobloch Syndrome 2		Encephalocele	OMIM:618458

The table below shows human diseases predicted to be associated to Pak2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Intellectual Developmental Disorder With Autism And Speech Delay	Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent...	OMIM:617021
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Polymicrogyria, Simplified gyral...	OMIM:604317
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi...	OMIM:612561
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hyperactivit...	OMIM:618709
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Pick Disease Of Brain	Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep...	OMIM:172700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ...	ORPHA:2169
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:617820
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria...	ORPHA:275864
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv...	OMIM:620065
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms	OMIM:615282
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ...	OMIM:612069
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Simplified gyral pattern, Aggressive behavior	OMIM:619470
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Hy...	ORPHA:848
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Foxg1 Syndrome	Impaired social interactions, Bruxism, Pachygyria, Abnormal repetitive mannerisms, Paroxysmal bur...	ORPHA:561854
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lym...	OMIM:127550
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Impaired social interactions, Abnormal emotion	ORPHA:168782
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Attention deficit hyperactivi...	ORPHA:300573
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:444002
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Abnormality of neuronal migration...	ORPHA:163681
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, A...	ORPHA:449291
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri...	OMIM:212138
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms	OMIM:617393
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms, Shyness	ORPHA:280763
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Hsd10 Disease	Abnormal social behavior, Dysphagia	ORPHA:391417
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi...	ORPHA:228402
Meckel Syndrome, Type 2	Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly	OMIM:603194
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total...	OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Bradycardia, Congestive heart failure	OMIM:619048
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation	OMIM:611134
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Periventricular heterotopia, Self-biting, Recurrent ...	OMIM:300624
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph...	OMIM:616212
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi...	ORPHA:33543
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Impaired social interactions, Attention deficit hyperactivity...	OMIM:610042
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Attention de...	ORPHA:352490
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Rett Syndrome, Congenital Variant	Tongue thrusting, Simplified gyral pattern, Irritability, Impaired social interactions, Bruxism, ...	OMIM:613454
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Wildervanck Syndrome	Meningocele	ORPHA:3456
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Castleman Disease	Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,...	ORPHA:160
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia	ORPHA:89844
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St...	OMIM:618917
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia...	OMIM:601005
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia	OMIM:614702
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Emo...	OMIM:619580
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Abnormality of neuronal migration, Depression	OMIM:300957
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r...	OMIM:618342
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Dysphagia	OMIM:617008
Cln3 Disease	T-wave inversion, Vacuolated lymphocytes, Bradycardia	ORPHA:228346
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Xq28 (MECP2) duplication	Depression, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Cryptorchidism	OMIM:617201
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so...	OMIM:300912
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Idiopathic Congenital Hypothyroidism	Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Impaired social interactions, Dysphagia	OMIM:619775
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord...	OMIM:620242
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Necrotizing Enterocolitis	Hyponatremia, Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia	ORPHA:391673
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2772
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Simplified gyral pattern	OMIM:619877
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Delayed early-childhood social milestone development, Simplified gyral pattern, Lissencephaly, Im...	ORPHA:300570
Blepharophimosis-Impaired Intellectual Development Syndrome	Cryptorchidism, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal rep...	OMIM:619293
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilati...	OMIM:123450
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Abnormal repetitive mannerisms, Self-mutilation, Depression	ORPHA:457240
Glutathionuria	Gray matter heterotopia	OMIM:231950
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Cryptorchidism, Bruxism, Depression, Hostility, Dysphagia, Abnorm...	OMIM:300260
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Glutamine Deficiency, Congenital	Hypoglutaminemia, Bradycardia, Hyperammonemia	OMIM:610015
Li-Ghorbani-Weisz-Hubshman Syndrome	Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618974
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Cryptorchidism, Abnormality of neuronal migration, Macrog...	ORPHA:899
48,Xxyy Syndrome	Cryptorchidism, Depression, Azoospermia, Attention deficit hyperactivity disorder, Abnormal repet...	ORPHA:10
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, A...	ORPHA:90051
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95716
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Self-biting, Abnormal repetitive mannerisms	ORPHA:3306
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Bilateral cryptorchidism, Cryptorchidism, Pica, Irritability, Obsessive-compulsive...	OMIM:617796
Cerebrocostomandibular Syndrome	Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Agitation, Disinhibition	ORPHA:1020
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Autosomal Recessive Spondylocostal Dysostosis	Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation	ORPHA:2311
Alg11-Cdg	Gray matter heterotopia, Impaired social interactions	ORPHA:280071
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Polymicrogyria, Abnormal repetitive mannerisms	OMIM:617751
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Gray matter heterotopia, Attention deficit hyperactivity disord...	OMIM:619312
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Cryptorchidism	OMIM:164180
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Pachygyria, Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Emotional lability, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cryptorchidism, Polymicrogyria, Abnormal repetitive mannerisms	ORPHA:500159
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Fre...	OMIM:619103
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
48,Xxxy Syndrome	Cryptorchidism, Irritability, Azoospermia, Attention deficit hyperactivity disorder, Abnormal soc...	ORPHA:96263
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:618067
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impaired social interac...	OMIM:615656
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Bradycardia, Thrombocytopenia	OMIM:617397
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	OMIM:300352
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Self-injurious behavior, Periventricular heterotopia, Irritability, Aggressive behavior	OMIM:619833
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, Low frustration tolerance, Obsessive-compulsive trait, Abnorm...	ORPHA:168491
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Perisylvian polymicrogyria, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:619121
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay	OMIM:614424
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-...	ORPHA:2839
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mu...	OMIM:300486
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, Abnormal repetit...	OMIM:616364
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Proximal 16P11.2 Microdeletion Syndrome	Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis...	ORPHA:261197
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Polymicrogyria, Type II lissencephaly	ORPHA:370959
Phelan-Mcdermid Syndrome	Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive...	OMIM:606232
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature	ORPHA:2031
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Subconju...	ORPHA:319213
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression	ORPHA:98784
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Man1B1-Cdg	Polyphagia, Periventricular heterotopia	ORPHA:397941
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Cryptorchidism, Dysphagia, Abnormal repetitive mannerisms	OMIM:619435
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia	OMIM:620351
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Impulsivity, Periventricular heterotopia, Cryptorchidism, Self-injurious behavior, Attention defi...	OMIM:618929
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Inappropriate laughter, Periventricular heterotopia	OMIM:618476
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Fatigable weakness of neck muscles, Dysphagia	ORPHA:26791
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2063
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors, Cryptorchidism	ORPHA:261236
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Yellow Fever	Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	ORPHA:99829
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Cryptorchidism, Polyphagia, Simplified gyral p...	ORPHA:96121
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Snijders Blok-Campeau Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Fg Syndrome Type 1	Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive be...	ORPHA:93932
D-Glyceric Aciduria	Bradycardia, Nonketotic hyperglycinemia	OMIM:220120
3C Syndrome	Abnormality of neuronal migration	ORPHA:7
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Coffin-Lowry Syndrome	Self-injurious behavior, Abnormality of neuronal migration	ORPHA:192
Smith-Magenis Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619428
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia	ORPHA:91355
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Abnormal temper tantrums, Aggressive b...	ORPHA:457279
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Cryptorchidism	ORPHA:531151
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Attention deficit hyperactivity disorder, Periventricular heterotopia	OMIM:618870
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele, Short stature	OMIM:130720
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Kleefstra Syndrome 1	Cryptorchidism, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re...	ORPHA:3380
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Cryptorchidism, Simplified gyral pattern, Self-injurious behavior, L...	ORPHA:468631
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:157
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele	ORPHA:2789
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Lissencephaly, Simplified gyral pattern	OMIM:615219
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Metachromatic Leukodystrophy, Adult Form	Emotional lability, Abnormal social behavior, Depression	ORPHA:309271
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:247200
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad...	ORPHA:90674
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness	OMIM:301030
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Vici Syndrome	Gray matter heterotopia	ORPHA:1493
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Koolen-De Vries Syndrome	Gray matter heterotopia, Hyperactivity, Impulsivity, Cryptorchidism	OMIM:610443
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	OMIM:619475
Mosaic Trisomy 9	Intrauterine growth retardation, Spina bifida	ORPHA:99776
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cryptorchidism, Gray matter heterotopia, Polymicrogyria, Dysphagia	OMIM:214100
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh...	ORPHA:397715
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Lathosterolosis	Intrauterine growth retardation, Meningocele	ORPHA:46059
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cryptorchidism, Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention defi...	ORPHA:464311
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Abnormality of neuronal migration	ORPHA:228308
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Crypt...	OMIM:615546
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior, Abnormal cortical gyration, Aggressive behavior	ORPHA:314647
Kleefstra Syndrome	Aggressive behavior, Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms, Sel...	ORPHA:261494
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Den Hoed-De Boer-Voisin Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia	OMIM:619229
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Irritability, Compulsive ...	OMIM:615873
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms, Cryptorchidism	OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Perivent...	OMIM:618918
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Meningocele	ORPHA:2879
Pagod Syndrome	Encephalocele, Meningocele, Short stature, Spina bifida	ORPHA:991
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Gray matter heterotopia, Bruxism	ORPHA:453499
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Cryptorchidism	OMIM:620024
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Self-injurious behavior	ORPHA:314679
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Bohring-Opitz Syndrome	Gray matter heterotopia	OMIM:605039
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Orofaciodigital Syndrome Type 6	Bilateral cryptorchidism, Abnormality of neuronal migration	ORPHA:2754
Mend Syndrome	Cryptorchidism, Hyperactivity, Abnormal social behavior, Aggressive behavior	ORPHA:401973
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Abnormal repetitive man...	ORPHA:319182
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Developmental And Epileptic Encephalopathy 100	Pachygyria, Abnormal repetitive mannerisms, Polymicrogyria, Dysphagia	OMIM:619777
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms	ORPHA:2479
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ...	OMIM:619575
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Cryptorchidism	OMIM:610954
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Attention deficit hyperactivity disorder, Cryptorchidism	OMIM:305450
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly	OMIM:616546
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Fibular Hemimelia	Spina bifida	ORPHA:93323
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida	OMIM:234100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Frequent temper tan...	OMIM:619512
Focal Dermal Hypoplasia	Umbilical hernia, Spina bifida	ORPHA:2092
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Cryptorchidism	OMIM:603671
Holoprosencephaly	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2162
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity ...	OMIM:619005
Niemann-Pick Disease Type C	Aggressive behavior, Depression, Disinhibition, Low frustration tolerance, Compulsive behaviors, ...	ORPHA:646
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Neu-Laxova Syndrome 1	Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ...	OMIM:256520
Jacobsen Syndrome	Growth delay, Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:2308
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he...	ORPHA:567
Koolen-De Vries Syndrome Due To A Point Mutation	Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention deficit hyperactivity diso...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention deficit hyperactivity diso...	ORPHA:363958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Cryptorchidism, Gray matter heterotopia, Bruxism	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Cryptorchidism, Gray matter heterotopia, Bruxism	ORPHA:352665
Orofaciodigital Syndrome Vi	Occipital meningocele, Short stature	OMIM:277170
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Bruxism	ORPHA:48652
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Attention deficit hyperactivity disorder	ORPHA:647
Severe Generalized Junctional Epidermolysis Bullosa	Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration, Anemia	ORPHA:79404
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r...	ORPHA:84
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms	ORPHA:508533
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Vici Syndrome	Gray matter heterotopia, Dysphagia	OMIM:242840
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353277
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida	ORPHA:508498
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria, Attention deficit hyperactivity disorder, Cryptorchidism	OMIM:618820
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:304050
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat...	OMIM:114290
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine...	OMIM:192350
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Depression, Self-injurious behavior, Azoospermia, Compulsive behaviors, Attention...	ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Pachygyria, Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive manne...	ORPHA:513456
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia	OMIM:618733
Dyrk1A-Related Intellectual Disability Syndrome	Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms	ORPHA:464306
Thrombocytopenia-Absent Radius Syndrome	Short stature, Spina bifida	OMIM:274000
Nmda Receptor Encephalitis	Hypersexuality, Depression, Agitation, Testicular teratoma, Mania, Abnormal repetitive mannerisms	ORPHA:217253
3-Methylglutaconic Aciduria, Type Viii	Bradycardia, Neutropenia	OMIM:617248
Orofaciodigital Syndrome I	Gray matter heterotopia, Abnormal cortical gyration	OMIM:311200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Ogden Syndrome	Cryptorchidism, Hydrocele testis, Irritability, Dysphagia, Abnormal repetitive mannerisms, Decrea...	OMIM:300855
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Bradycardia	ORPHA:226307
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Arima Syndrome	Gray matter heterotopia, Polydipsia	OMIM:243910
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Cryptorchidism, Microlissencephaly, Gray matter heterotopia, Pachygyr...	OMIM:210710
Rubinstein-Taybi Syndrome 1	Short stature, Spina bifida, Postnatal growth retardation, Growth delay, Spina bifida occulta	OMIM:180849
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:618653
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia	OMIM:619895
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Hypotonia, Ataxia, And Delayed Development Syndrome	Cryptorchidism, Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Abnormal repetitive mannerisms, Dysphagia	OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Fontaine Progeroid Syndrome	Cryptorchidism, Gray matter heterotopia, Periventricular heterotopia	OMIM:612289
Smith-Lemli-Opitz Syndrome	Hyperactivity, Periventricular heterotopia, Aggressive behavior, Cryptorchidism, Self-mutilation	OMIM:270400
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h...	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
1P36 Deletion Syndrome	Cryptorchidism, Polyphagia, Self-injurious behavior, Dysphagia, Abnormal repetitive mannerisms	ORPHA:1606
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Decreased testicular size, Type II lissencephaly	OMIM:615287
Williams Syndrome	Cryptorchidism, Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnor...	ORPHA:904
Mowat-Wilson Syndrome	Periventricular heterotopia, Cryptorchidism, Bruxism, Hydrocele testis, Impaired social interacti...	ORPHA:2152
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Norrie Disease	Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, ...	ORPHA:649
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Orofaciodigital Syndrome Xiv	Cryptorchidism, Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia	OMIM:615948
Coffin-Siris Syndrome 12	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:619325
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:616682
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Cryptorchidism, Hydrocele testis, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r...	OMIM:619522
Proteus Syndrome	Macroorchidism, Gray matter heterotopia, Testicular neoplasm	ORPHA:744
Wolf-Hirschhorn Syndrome	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:194190
Primrose Syndrome	Restlessness, Aggressive behavior, Bilateral cryptorchidism, Cryptorchidism, Self-injurious behav...	OMIM:259050
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration	OMIM:236680
Genitopatellar Syndrome	Cryptorchidism, Periventricular heterotopia, Pachygyria, Dysphagia	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Cryptorchidism, Bruxism, Hydrocele testis, Dysphagia, Polymicrogyria...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Cryptorchidism, Bruxism, Hydrocele testis, Dysphagia, Polymicrogyria...	ORPHA:261552
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Periventricular heterotopia	ORPHA:434179
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Disproportionate short stature	OMIM:276820
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Knobloch Syndrome 2	Encephalocele	OMIM:618458

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 Pak2

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 Pak2.

No publications found that use IMPC mice or data for Pak2.

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MGI Allele	Allele Type	Produced
Pak2^{tm48006(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pak2^em1(IMPC)H	Exon Deletion	Mice
Pak2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pak2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pak2 MGI:1339984

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Pak2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data