Gene Summary

Name:
leucine rich repeat and fibronectin type III, extracellular 2
Synonyms:
Lrrc62

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
increased vertical activity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 7.20×10-11
abnormal vocalization Elfn2tm1.1(KOMP)Vlcg HOM Early adult 2.53×10-10
increased eosinophil cell number Elfn2tm1.1(KOMP)Vlcg HOM Early adult 1.74×10-05
decreased thigmotaxis Elfn2tm1.1(KOMP)Vlcg HOM Early adult 3.52×10-22
abnormal kidney morphology Elfn2tm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Elfn2tm1.1(KOMP)Vlcg HOM Early adult 2.09×10-15
abnormal behavior Elfn2tm1.1(KOMP)Vlcg HOM   Early adult 2.20×10-21

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 75% (3 of 4)
Cerebellum N/A heterozygote 100% (4 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 75% (3 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Epididymis N/A heterozygote 50% (2 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 100% (4 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 75% (3 of 4)
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote 100% (4 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Testis N/A heterozygote 25% (1 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 25% (1 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 25% (1 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

34 Images

Adult LacZ

LacZ Images Wholemount

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Human diseases caused by Elfn2 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 Elfn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:608636
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300425
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status... OMIM:617171
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Seizure, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity, Seizure ORPHA:436151
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil... OMIM:617113
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300495
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure OMIM:616341
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Hyperactivity, Seizure, Irritability OMIM:616657
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Seizure, Bruxism, Inappropriate laughter, Focal-onset seizure, Aggressive behavior, Motor stereot... OMIM:619150
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus OMIM:239500
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:608049
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... OMIM:616056
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Irritability, Aggressive behavior, Generalized tonic seizure, Hyp... ORPHA:2382
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618709
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Seizure OMIM:617820
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Status epilepticus, Seizure OMIM:617830
Hartnup Disorder
Seizure, Emotional lability, Generalized tonic seizure, Attention deficit hyperactivity disorder,... OMIM:234500
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Glycine Encephalopathy 1
Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Depression, Focal myoclonic seizure, Generalized ... ORPHA:98818
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Irritability, Aggressive behavior, C... ORPHA:275864
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620065
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Infantile spasms, Irritability, Tonic seizure, Nocturnal seizures, Motor stereotypy, Foc... OMIM:617393
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Esophagitis, Eosinophilic, 1
Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Dysphagia OMIM:613412
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia, Bilateral tonic-clonic seizure OMIM:617862
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines OMIM:301076
N-Acetylaspartate Deficiency
Motor stereotypy, Seizure, Self-mutilation OMIM:614063
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Seizure, Stereotypical hand wringing ORPHA:397933
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity, Seizure OMIM:619470
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure OMIM:613886
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Focal-ons... OMIM:618917
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Aggressive behavior, Hyperact... ORPHA:382
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of ... OMIM:618718
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity, Seizure ORPHA:168782
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Restlessness, Motor stereo... OMIM:600795
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Delayed early-childhood social milestone development, Tonic seizure, Hyperactivity, Bilateral ton... OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Foxg1 Syndrome
Bruxism, Infantile spasms, Myoclonus, Reduced social reciprocity, Stereotypical hand wringing, Mo... ORPHA:561854
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Seizure OMIM:248510
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Cdkl5-Deficiency Disorder
Bruxism, Inappropriate laughter, Infantile spasms, Stereotypical hand wringing, Generalized tonic... ORPHA:505652
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H... OMIM:620145
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity, Seizure OMIM:300434
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ... ORPHA:208447
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait OMIM:618092
Morm Syndrome
Micropenis, Aggressive behavior, Hyperactivity ORPHA:75858
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H... OMIM:271980
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a... ORPHA:1929
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... OMIM:617600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Seizure, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618906
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Bruxism, Epileptic spasm, Myoclonus, Stereotypical hand wringing, Ton... OMIM:618497
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera... OMIM:604317
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Myoclonic seizure, Seizure, Bruxism, Inappropriate laughter, Epileptic s... OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Kimura Disease
Eosinophilia ORPHA:482
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Phenylketonuria
Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera... OMIM:261600
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Emotional lability, Disinhibition OMIM:612069
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia OMIM:253600
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Seizure OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:617182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Hyperactivity, Seizure OMIM:615924
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-positive T c... ORPHA:169160
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... ORPHA:449291
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-ne... OMIM:603909
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Infantile ... ORPHA:485350
Xq25 Microduplication Syndrome
Hyperactivity, Seizure ORPHA:521258
Shukla-Vernon Syndrome
Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsi... OMIM:301029
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure OMIM:617169
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Dysphagia, Leukocytosis ORPHA:2070
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity, Seizure OMIM:618362
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Compulsive behaviors, Attention deficit hyperactivity disorder, Recurrent hand flapping, Seizure OMIM:620021
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:90045
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha... OMIM:619467
Lopes-Maciel-Rodan Syndrome
Seizure, Bruxism, Dysphagia, Motor stereotypy, Focal impaired awareness seizure, Agitation OMIM:617435
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Nocturnal seizu... ORPHA:98784
Wells Syndrome
Eosinophilia ORPHA:901
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Hyperactivity, Seizure OMIM:609924
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Obsessive-compulsive trait, Focal... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S... OMIM:614104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Recurrent hand flapping, Em... OMIM:619580
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Excessive shyness, Seizure ORPHA:280763
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts ... ORPHA:228402
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizures, Bilateral to... OMIM:619725
Cinca Syndrome
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis OMIM:607115
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Seizure, Hyperactivity, Motor stereotypy, Abnormal social behavior ORPHA:530983
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Glomerul... OMIM:304790
Juvenile Huntington Disease
Depression, Seizure, Myoclonus, Irritability, Hyperactivity ORPHA:248111
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Reduced social re... ORPHA:1942
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Hyper... OMIM:619913
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, Hyperactivity, Bilateral t... OMIM:300558
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity... OMIM:620242
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Seizure OMIM:613192
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Membranous nephropathy, Eosinophilia OMIM:618999
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure with generalized onset, Motor stereo... OMIM:619092
Autism Spectrum Disorder Due To Auts2 Deficiency
Seizure, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity,... ORPHA:352490
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Seizure, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618825
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Seizure OMIM:300979
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:301013
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia, Nephrotic syndrome ORPHA:39041
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Seizure, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity OMIM:620445
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Hyperactivity, Seizure ORPHA:411515
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, Infantile ... OMIM:300912
Xq28 (MECP2) duplication
Motor stereotypy, Depression, Dysphagia, Seizure DECIPHER:45
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:619877
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Motor ster... OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Nephrolithiasis, Aggressive behavior, Hyperactivity, ... OMIM:620023
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Seizure ORPHA:309246
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Seizure OMIM:618347
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Christianson Syndrome
Generalized-onset seizure, Inappropriate laughter, Motor stereotypy, Dysphagia ORPHA:85278
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Emotional lability, Dysphagia, Bilateral tonic-clonic seizure, Myoclonic spa... ORPHA:79264
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Seizure, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Self-mutilation, Bilateral tonic-clonic seizure, Motor stereotypy ORPHA:457240
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Immunodeficiency 23
Ataxia, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Membranoproliferative glomerulonephritis... OMIM:615816
Fragile X Syndrome
Seizure, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Hematuria, Proteinuria, Eosinophilia, Gait disturbance, Tubulointerstitial n... ORPHA:183
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Seizure ORPHA:457260
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Seizure, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavior, Generalize... OMIM:616393
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Tonic seizure, Infantile spasms, Hyperactivity, Seizure OMIM:619239
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Dysphagia, Hyperactivity, Myoclonic spasms, Bilater... ORPHA:447997
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Hijazi-Reis Syndrome
Motor stereotypy, Seizure OMIM:301094
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Smith-Magenis Syndrome
Head-banging, Seizure, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, Motor ster... OMIM:182290
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia ORPHA:449400
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia ORPHA:293173
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... OMIM:618342
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617808
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Seizure, Focal-onset seizure, Self-mutilation, Stereotypical hand wring... ORPHA:163681
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Lymphocytosis, Tubulointerstitial nephritis, Nephrotic syndrome ORPHA:139402
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms ORPHA:572013
Hyperlysinemia, Type I
Hyperlysinuria, Dysdiadochokinesis, Cystinuria, Hyperactivity, Anemia, Ornithinuria, Argininuria,... OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy, Seizure OMIM:613443
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Generalized non-motor (absence) seizure, Seizure, Hostility, Bruxism, Tonic seizure, ... OMIM:300260
Potocki-Lupski Syndrome
Seizure, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... OMIM:602450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Decreased proportion of CD8-positive T cells, Inability to walk, Lymphopenia, D... ORPHA:508533
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Renal cyst, Eosinophilia, Membranous nephropathy ORPHA:400
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:397612
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Eosinophilia, Macrocytic anemia, Anorexia ORPHA:199299
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia OMIM:617388
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Seizure, Bruxism, Motor stereotypy, Status epilepticus OMIM:618004
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Emotional lability, Motor stereotypy, Seizure, Agitation ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Netherton Syndrome
Hypereosinophilia OMIM:256500
Rett Syndrome, Congenital Variant
Seizure, Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Motor stereotypy OMIM:613454
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Focal-onset seizure, Dysphagia, Motor stereotypy, Status epilepticus OMIM:617802
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Motor stere... OMIM:300672
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Alveolar Echinococcosis
Cutaneous abscess, Renal cyst, Eosinophilia, Abnormal spleen morphology, Ataxia, Anemia, Liver ab... ORPHA:284
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Infantile spasms, Motor stereotypy, Myoclonic seizure OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 52
Seizure, Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Seizure, Agitation OMIM:617903
Incontinentia Pigmenti
Eosinophilia, Attention deficit hyperactivity disorder, Gait disturbance ORPHA:464
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Seizure, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Myoclonus, To... ORPHA:98794
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Seizure OMIM:617751
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Seizure ORPHA:10
Progressive Supranuclear Palsy
Depression, Emotional lability, Irritability, Dysphagia, Impulsivity, Abnormal synaptic transmission ORPHA:683
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1727
Adenylosuccinase Deficiency
Seizure, Inappropriate laughter, Myoclonus, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:103050
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Overfriendliness, Attention deficit hyperactivity disorder, M... OMIM:619293
Angelman Syndrome
Self-injurious behavior, Seizure, Inappropriate laughter, Infantile spasms, Recurrent hand flappi... ORPHA:72
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Difficulty walking, Increased urinary p... ORPHA:100924
Ritscher-Schinzel Syndrome 4
Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Motor stereotypy, Focal-onset sei... OMIM:619435
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Igg4-Related Pachymeningitis
Nephritis, Eosinophilia, Dysphagia ORPHA:449427
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
47,Xyy Syndrome
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Imp... ORPHA:8
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Chromosome 15Q11.2 Deletion Syndrome
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Compulsive behavio... OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:617061
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bilateral tonic-clonic ... OMIM:615802
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Generalized-onset seizure, Motor stereotypy OMIM:617807
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Mucoepithelial Dysplasia, Hereditary
Hematuria, Eosinophilia OMIM:158310
Cerebral Creatine Deficiency Syndrome 1
Seizure, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:300352
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
X-Linked Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Disinhibition, Aggressive behavior, Attention deficit hype... ORPHA:43
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyperactivity disorder, Motor ... OMIM:619103
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Seizure, Emotional lability, Low frustration tolerance, Reduced social reciprocity, Aggressive be... OMIM:309520
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Hy... ORPHA:760
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bila... ORPHA:457351
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social reciprocity, Seizure ORPHA:261197
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive behavior, Hyperactiv... OMIM:123450
Rett Syndrome
Seizure, Bruxism, Stereotypical hand wringing, Motor stereotypy, Agitation ORPHA:778
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Seizure ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... OMIM:620073
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Myoclonus, Focal-onset... OMIM:619229
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Radio-Tartaglia Syndrome
Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereoty... OMIM:619312
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... OMIM:301000
Spastic Paraplegia 29, Autosomal Dominant
Urinary hesitancy, Hyperactivity, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Lymphatic Filariasis
Urethral obstruction, Hypereosinophilia, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic sy... ORPHA:2035
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Leukocytosis, Eosinophilia, Thromboc... OMIM:274000
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Seizure ORPHA:261144
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Depression, Head-banging, Seizure, Bruxism, Emotional labil... ORPHA:2388
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Hypo... OMIM:616364
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Agitation, Irritability, Hyperactivity, ... OMIM:620423
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsi... ORPHA:476126
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Seizure, Emotional lability, Reduced social reciprocity, Delayed early-childhood social milestone... ORPHA:300570
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:819
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:619121
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Overfriendliness OMIM:616579
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Renal insufficiency, Abscess, Eosinophilia ORPHA:228123
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1001
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Seizure OMIM:610253
Phelan-Mcdermid Syndrome
Seizure, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Motor stereo... OMIM:606232
Argininemia
Oroticaciduria, Irritability, Hyperactivity, Anorexia, Spastic gait, Diaminoaciduria, Reduced ery... OMIM:207800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Seizure, Low frustration tolerance, Aggressive behavior, Motor stereotypy ORPHA:457279
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure OMIM:620047
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Myoclonic seizure, Generalized non-motor (absence) se... OMIM:620330
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620494
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Congenital Disorder Of Glycosylation, Type Iia
Seizure, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stereotypy OMIM:212066
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyper... OMIM:619575
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dysphag... ORPHA:496641
Neurodegeneration With Brain Iron Accumulation 2B
Seizure, Emotional lability, Hyperactivity, Dysphagia, Impulsivity OMIM:610217
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Seizure, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Aggressive behav... ORPHA:805
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Seizure ORPHA:2479
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (withi... ORPHA:1934
Sarcoidosis
Nephrocalcinosis, Leukopenia, Renal insufficiency, Nephrolithiasis, Increased T cell count, Anemi... ORPHA:797
Igg4-Related Submandibular Gland Disease
Eosinophilia, Renal insufficiency ORPHA:449432
Van Esch-O'Driscoll Syndrome
Seizure, Attention deficit hyperactivity disorder, Excessive shyness, Motor stereotypy, Impulsivity OMIM:301030
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Dysphagia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia, Seizure OMIM:607625
Wiedemann-Steiner Syndrome
Seizure, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Kleefstra Syndrome
Self-injurious behavior, Seizure, Self-mutilation, Aggressive behavior, Motor stereotypy ORPHA:261494
Nmda Receptor Encephalitis
Mania, Depression, Seizure, Generalized-onset seizure, Myoclonus, Status epilepticus, Motor stere... ORPHA:217253
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Self-mutilation OMIM:619005
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Emotional lability, Tics, Motor stereotypy, Clonic seizure, Depression, Infantile spasms, Irritab... OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... OMIM:619512
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Seizure, Reduced social reciprocity, Aggressive behavior, Polyphagia, Hy... ORPHA:96121
Monosomy 22Q13.3
Bruxism, Hyperactivity, Seizure, Hair-pulling ORPHA:48652
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto... OMIM:619297
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Depression, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Motor tics, Gait d... OMIM:234200
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping, Seizure OMIM:615485
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Bruxism, Reduced social reciprocity, Irritability, Polyphagia, ... OMIM:615873
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Aggressive behavior, Depression, Hyperactivity, Seizure OMIM:612716
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Seizure OMIM:610954
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro... ORPHA:906
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Motor stereotypy, Seizure OMIM:301040
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Cushing Disease
Depression, Increased urinary cortisol level, Lymphopenia, Leukocytosis, Emotional lability, Decr... ORPHA:96253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353281
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Viss Syndrome
Hydronephrosis, Hypereosinophilia, Dysphagia OMIM:619472
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Multifocal seizures, Motor stereotypy, Seizure OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Simple febrile seizure ORPHA:464311
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting ORPHA:522077
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Seizure, Oppositional defiant disorder, Aggressive behavior, Hyperactiv... ORPHA:580
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Bilateral ... OMIM:614756
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Motor stereotypy,... OMIM:301044
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Increased urinary cortisol level, Lymphopenia, Leukocytosis, Emotional lability, Anor... ORPHA:99889
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:468631
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Dysphagia, Seizure OMIM:617330
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Seizure OMIM:309590
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Seizure, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:534
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Seizure OMIM:616682
Ogden Syndrome
Generalized-onset seizure, Irritability, Dysphagia, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:300855
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Arboleda-Tham Syndrome
Motor stereotypy, Dysphagia, Seizure OMIM:616268
Dermatomyositis
Abnormal eosinophil morphology, Dysphagia ORPHA:221
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic... OMIM:612474
1P36 Deletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Norrie Disease
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, Motor s... ORPHA:649
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy, Seizure OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Seizure OMIM:619522
Coffin-Siris Syndrome 12
Motor stereotypy, Seizure OMIM:619325
Primrose Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:259050
Wolf-Hirschhorn Syndrome
Motor stereotypy, Seizure OMIM:194190
Mowat-Wilson Syndrome
Seizure, Bruxism, Focal-onset seizure, Reduced social reciprocity, Dysphagia, Atypical absence se... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Seizure, Bruxism, Dysphagia, Atypical absence seizure, Motor stereotypy, Focal-onset seizure ORPHA:261537