Gene Summary

Name:
leucine rich repeat containing 4B
Synonyms:
Lrig4,  NGL-3,  Ngl3

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 hematocrit Lrrc4bem1(IMPC)J HOM   Early adult 1.18×10-06
abnormal behavior Lrrc4bem1(IMPC)J HOM   Early adult 4.77×10-05
preweaning lethality, incomplete penetrance Lrrc4bem1(IMPC)J HOM   Early adult 0.00
decreased grip strength Lrrc4bem1(IMPC)J HOM Early adult 4.12×10-07
increased vertical activity Lrrc4bem1(IMPC)J HOM   Early adult 1.99×10-05
increased thigmotaxis Lrrc4bem1(IMPC)J HOM   Early adult 4.77×10-05
increased anxiety-related response Lrrc4bem1(IMPC)J HOM   Early adult 1.83×10-07
abnormal bone structure Lrrc4bem1(IMPC)J HOM   Early adult 4.51×10-08
decreased locomotor activity Lrrc4bem1(IMPC)J HOM Early adult 2.86×10-06

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Forepaw

3 Images

Electroretinography 3

Fundus file

8 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Lrrc4b 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 Lrrc4b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, Seizure, Myoclonus, Disinhibition, T2 hypointense thalamus, Gait disturbance, ... OMIM:618193
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy... OMIM:617113
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Chorea, Motor tics, Cognitive impairment, Dementia, Athetosis, Tha... OMIM:615483
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired aware... ORPHA:599373
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Lennox-Gastaut Syndrome
Mental deterioration, Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irr... ORPHA:2382
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Focal impaire... ORPHA:1947
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Failure to thrive, Seizure, Hypsarrhythmia, Dysphagia OMIM:613668
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Gait ataxia, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Chorea, Dysmetria, Thalamic calcification, Ataxia, Hypoe... OMIM:618317
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysphagia, Dysdiadochokinesis ORPHA:228169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Generalized-onset seizure, Inability to walk, Irritability, Hyperactivity OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Seizure ORPHA:436151
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Spinocerebellar Ataxia With Epilepsy
Depression, Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure with focal onse... ORPHA:254881
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... OMIM:301008
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Motor stereotypy, Status ep... OMIM:239500
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Rasmussen Subacute Encephalitis
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ... ORPHA:1929
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Coasy Protein-Associated Neurodegeneration
Compulsive behaviors, Difficulty walking, Abnormal thalamus morphology, Cognitive impairment ORPHA:397725
Alexander Disease Type I
Palatal tremor, Failure to thrive, Seizure, Cachexia, Ataxia, Dysphagia, Abnormal thalamic MRI si... ORPHA:363717
Schizophrenia 15
Hyperactivity OMIM:613950
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Hartnup Disorder
Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera... OMIM:234500
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Infantile spasms, Startle-... ORPHA:467166
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Interictal EEG abnormality, Focal T2 hyperintense thalamic lesion, Emotional... ORPHA:79264
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
Juvenile Huntington Disease
Broad-based gait, Depression, Seizure, Chorea, Gait ataxia, Myoclonus, Irritability, Weight loss,... ORPHA:248111
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Limb ataxia, Thalamic calcification, Seizure OMIM:618824
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Aggre... ORPHA:382
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w... ORPHA:3077
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Gait ataxia, Myoclonu... OMIM:620145
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Glycine Encephalopathy 1
Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hype... OMIM:604317
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity, Seizure ORPHA:85288
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H... OMIM:271980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Seizure, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyp... ORPHA:411515
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight ORPHA:324422
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... OMIM:619827
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Seizure, Myoclonus, Hyperactivity, Ataxia OMIM:615924
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, In... ORPHA:485350
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Lateral ventricle dilatation, Dilated third ventricle, Loss... OMIM:620315
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Memory impairment, Depression, Seizure, Gait ataxia, Positive Rombe... ORPHA:70595
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, Hyperactivity, Bilate... OMIM:618090
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, EEG with generalized epileptiform discharges, Sei... ORPHA:163681
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion... OMIM:614963
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia, Status epilepticus, Agitation OMIM:619046
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Lissencephaly 4
Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum OMIM:614019
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... OMIM:610042
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... ORPHA:1942
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a... OMIM:619913
Cach Syndrome
Seizure, Limb ataxia, Dysmetria, Irritability, T2 hypointense thalamus, Cognitive impairment, Pro... ORPHA:135
Acute Disseminated Encephalomyelitis
Mental deterioration, Somatic sensory dysfunction, Seizure, EEG with generalized slow activity, C... ORPHA:83597
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Inappropriate behavior, Lateral ventricle dilatation, Frontal lobe dementia, D... OMIM:221770
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hy... ORPHA:500180
Neuroferritinopathy
Palatal tremor, Difficulty walking, Frontal lobe dementia, Chorea, Emotional lability, T2 hypoint... ORPHA:157846
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Seizure, Ataxia OMIM:300983
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Distal senso... ORPHA:254930
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduc... OMIM:613724
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Epileptic spasm, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, D... ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Myoclonus, Small for gestational age OMIM:619057
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Gait imbalance, Gait ataxia, Abnormal lateral ventricle morpholo... ORPHA:488635
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Attention deficit hyperact... ORPHA:435638
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, EE... OMIM:618718
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... OMIM:608747
Phenylketonuria
Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera... OMIM:261600
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Recurrent hand... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Hyperactivity, Seizure OMIM:617169
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Seizure, Febrile seizure (within the age range of 3 months to 6 yea... ORPHA:404440
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Myoclonic seizure, Decreased thalamic volume, Focal-onset seizure OMIM:619072
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Depression, Lateral ventricle dilatation, Ataxia OMIM:615889
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive... OMIM:607485
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrh... OMIM:619239
Central Neurocytoma
Abnormal lateral ventricle morphology, Depression, Hydrocephalus, Ataxia ORPHA:73256
Progressive Supranuclear Palsy
Memory impairment, Depression, Falls, Emotional lability, Irritability, Cognitive impairment, Dem... ORPHA:683
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Obsessive... ORPHA:500055
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive in infa... OMIM:614104
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Seizure, Decreased response to growth hormone stimulation test, Aggressive beh... OMIM:615286
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
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor ster... OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Seizure, Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impu... OMIM:620445
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal thalamus morphology, EEG with burst suppressi... ORPHA:79139
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Postnatal growth retardation, Short attention span, Aggressive beh... OMIM:620242
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:617182
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Lateral ventricle dilatation, Agenesis of corpus callosum, Attention de... ORPHA:300573
Tay-Sachs Disease
Mania, Memory impairment, Typical absence seizure, Depression, Seizure, Inability to walk, Short ... ORPHA:845
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Seizure, Inability to walk, Short attention span, Emotional labilit... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Short attention span, Aggressive behavior, Hype... OMIM:300558
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Seizure, Inappropriate laughter, Abnormal... ORPHA:98794
Intellectual Developmental Disorder, X-Linked 107
Seizure, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha... OMIM:619467
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Chorea, Cognitive impairment ORPHA:309246
Infantile Neuroaxonal Dystrophy
Mental deterioration, Seizure, Short attention span, Emotional lability, Abnormality of periphera... ORPHA:35069
Hyperlysinemia, Type I
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Cog... OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Short attention span, Attentio... OMIM:617854
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Depression, Lateral ventricle dilatation ORPHA:306669
Combined Oxidative Phosphorylation Defect Type 23
Seizure, Failure to thrive, Cognitive impairment, Abnormal thalamic MRI signal intensity ORPHA:444013
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Moto... OMIM:613443
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Dilated third ventricle, Head-banging, Failure to thrive, Lateral ventri... OMIM:619575
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Hydrocephalus... OMIM:616034
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Unsteady gait, Seizure OMIM:617542
Intellectual Developmental Disorder, Autosomal Recessive 13
Seizure, Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Colpocephaly, Spastic gait ORPHA:401815
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... ORPHA:95513
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Ir... OMIM:619833
Severe Neurodegenerative Syndrome With Lipodystrophy
Seizure, Progressive psychomotor deterioration, Gait ataxia, Myoclonus, Hyperactivity, Cognitive ... ORPHA:363400
Leigh Syndrome
Failure to thrive, Seizure, Chorea, Infantile spasms, Hypsarrhythmia, Ataxia, Progressive neurolo... ORPHA:506
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology, Paresthesia, Cognitive impairment, Small for gest... ORPHA:2959
Martsolf Syndrome 2
Short stature, Lateral ventricle dilatation, Decreased body weight OMIM:619420
Optic Atrophy 11
Seizure, EEG with focal sharp waves, Stereotypical body rocking, Dysmetria, Attention deficit hyp... OMIM:617302
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Growth delay, Lateral ventricle dilatation, Oral-pharyngeal dysphagia, S... ORPHA:208447
Gaisböck Syndrome
Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Abnormal thalamus morphology, Seizure ORPHA:88619
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Bruxism, Growth delay, Lateral ventricle dilatation OMIM:615716
Aceruloplasminemia
Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akinesia, Cognitive impairment, Ataxia, Abno... ORPHA:48818
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Hypothalamic atrophy, Memory impairment, Seizure, Inability to walk, Obesit... ORPHA:2822
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Difficulty walking, Abnormal erythrocyt... ORPHA:100924
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Dysphagia, Lateral ventricle dilatation, Ataxia OMIM:607596
X-Linked Parkinsonism-Spasticity Syndrome
Scissor gait, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Meningioma
Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy... ORPHA:2495
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Lateral ventricle dilatation ORPHA:77299
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Generalized non-motor (absence) seizure, Bulimia, Atonic seizure, Bruxism, Ste... OMIM:300912
Sandhoff Disease, Infantile Form
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Abnormal thalamic MRI sign... ORPHA:309155
X-Linked Creatine Transporter Deficiency
Seizure, Chorea, Self-mutilation, Cachexia, Hyperactivity, Ataxia, Athetosis ORPHA:52503
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Failure to thrive, Irritability, Agenesis of corpus callosum, Colpocephaly, Cho... OMIM:620352
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Restlessness, Lateral ventricle dilatation OMIM:619517
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Atonic seizure, Seizure, Inability to walk, Inappropri... ORPHA:72
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive in infancy, Difficulty walking,... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Dilated fourth ventricle, Intrauterine growth retardation, Hyperact... OMIM:617751
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... ORPHA:449291
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Seizure, Chorea, Gait ataxia, Short attention span, Dysmetria, Emotional la... OMIM:610217
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Intrauterine growth retardatio... ORPHA:79243
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Large for gestati... ORPHA:544488
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... OMIM:617865
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Failure to thrive, Generalized non-motor (absence) seizure, Episodic ata... ORPHA:1934
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Obesity, Spastic gait, Parti... OMIM:617296
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus ca... OMIM:619244
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Limb myoclonus, Seizure, Difficulty walking, Confusion, ... ORPHA:139396
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Irritability, Cognitive impairment, Dysphagia, Agitation ORPHA:2148
Citrullinemia Type Ii
Decreased body mass index, Memory impairment, Seizure, Confusion, Abnormal eating behavior, Irrit... ORPHA:247585
Angelman Syndrome
Broad-based gait, Seizure, Obesity, Progressive gait ataxia, Hyperactivity, EEG abnormality, Atax... OMIM:105830
Bickerstaff Brainstem Encephalitis
Sensory ataxia, Decreased motor nerve conduction velocity, Confusion, EEG abnormality, Ataxia, Dy... ORPHA:79138
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... OMIM:618914
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Inability to walk, Gait ataxia, Dandy-Walker mal... OMIM:618606
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Aggressive behavior, Lateral ventricle dilatation, Hyperactivity OMIM:620075
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Halperin-Birk Syndrome
Ventriculomegaly, Failure to thrive, Pseudobulbar paralysis, Inability to walk, Intrauterine grow... OMIM:618651
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Seizure, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Seizure, Abnormal thalamic MRI signal intensity ORPHA:529799
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Obesity, Intrauterine growth r... OMIM:619229
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Seizure ORPHA:370959
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Infantile spasms, Attention deficit hyperactivity disorder, Interhypotha... OMIM:618929
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Rhombencephalosynapsis
Fusion of the left and right thalami, Ataxia ORPHA:59315
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Severe postnatal growth retardation, Smal... ORPHA:3078
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Lateral ventricle dilatation, Dysphagia, Small for gestational age OMIM:619847
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Intrauterine growth retardati... ORPHA:572798
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Dilated third ventricle, Memory impairment, Depression, Ataxia ORPHA:314404
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Agitation, I... OMIM:620423
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Weight loss, Dysphagi... ORPHA:2388
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity, Elevated circulating growth hormone concentration ORPHA:85327
Distal Deletion 10Q
Failure to thrive, Lateral ventricle dilatation, Postnatal growth retardation, Aggressive behavio... ORPHA:96148
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Neonatal death OMIM:610015
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Decreased... OMIM:609053
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Dilated fourth ventricle, Intrauter... OMIM:615574
Slc35A2-Cdg
Lateral ventricle dilatation, Failure to thrive in infancy, Inability to walk, Intrauterine growt... ORPHA:356961
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... ORPHA:457279
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Difficulty walking, Inability to walk, Age... ORPHA:464738
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Rhizo... ORPHA:397715
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay OMIM:620156
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Failure to thrive, Choreoathetosis OMIM:231670
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Episodic ataxia ORPHA:420179
Craniopharyngioma
Increased circulating prolactin concentration, Seizure, Hypopituitarism, Obesity, Abnormal hypoth... ORPHA:54595
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Decreased response to growt... ORPHA:177907
Aicardi-Goutieres Syndrome 9
Failure to thrive, Lateral ventricle dilatation, Intrauterine growth retardation, Self-mutilation... OMIM:619487
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Seizure, Ataxia ORPHA:168577
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Intrauterine growth retardation, Agenesis of corpus callosum, Colpo... OMIM:620113
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Short attention span, Agenesis of ... OMIM:612863
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema, Seizure ORPHA:2177
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Hypsarrhythmia, Dysphagia, Hyperactivity, Myoclonic... ORPHA:447997
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure, Ataxia OMIM:620047
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Seizure OMIM:619306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Bainbridge-Ropers Syndrome
Self-injurious behavior, Growth delay, Failure to thrive, Lateral ventricle dilatation, Inability... OMIM:615485
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Failure to thrive, Lateral ventricle dilatation, Decreased response to growth h... OMIM:615873
Gabriele-De Vries Syndrome
Tip-toe gait, Lateral ventricle dilatation, Intrauterine growth retardation, Attention deficit hy... OMIM:617557
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Intrauterine growth retardation, Tip-toe gait, Lateral ventricle dilatation ORPHA:565624
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Inability to walk, Decreased body weight, ... OMIM:620371
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Short stature... OMIM:618460
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Agitation, Small for gestational age ORPHA:424
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... OMIM:234200
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation ORPHA:85290
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Lateral ventricle dilatation OMIM:256850
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly, Dysphagia ORPHA:261250
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Normochromic anemia, Anorexia ORPHA:91500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Seizure, Ataxia ORPHA:2720
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation, Decreased... ORPHA:314621
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Seizure, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Seizure, Thalamic hemorrhage ORPHA:464321
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... ORPHA:642
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lateral ventric... ORPHA:1855
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Seizure, Obesity, Emo... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353277
Cog5-Cdg
Short stature, Truncal ataxia, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:263487
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Failure to thrive, Inability to walk, Colpocephaly, Ataxia, Short stature OMIM:620083
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lateral ventricle dilatation OMIM:619995
Amoebiasis Due To Free-Living Amoebae
Seizure, Confusion, Irritability, Abnormal hypothalamus morphology, Ataxia, Restlessness ORPHA:68
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callo... OMIM:617260
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Agenesis of corpus callosum, Colpocephaly, At... OMIM:614866
Norrie Disease
Self-injurious behavior, Failure to thrive, Seizure, Irritability, Attention deficit hyperactivit... ORPHA:649
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Choroid plex... OMIM:304050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Dysphagia, Lateral ventricle dilatation, Irritability OMIM:618367
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Seizure OMIM:610828
Smith-Lemli-Opitz Syndrome
Failure to thrive, Intrauterine growth retardation, Self-mutilation, Aggressive behavior, Colpoce... OMIM:270400
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Attention deficit hyperactivity disorder, Dysplastic corpus callosum, Agenesis of c... OMIM:618820
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Failure to thrive, Lateral ventricle dilatation, Intrauterine gro... OMIM:210710
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Gait ataxia, Dysmetria, Colpocephaly ORPHA:75857
Neurocardiofaciodigital Syndrome
Lateral ventricle dilatation, Failure to thrive, Dilated fourth ventricle, Short stature, Small f... OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr... OMIM:619479
Histidinemia
Hyperactivity ORPHA:2157
Williams Syndrome
Abnormality of the diencephalon, Depression, Failure to thrive in infancy, Obesity, Gait imbalanc... ORPHA:904
Chromosome 1P36 Deletion Syndrome, Distal
Growth delay, Lateral ventricle dilatation, Obesity, Oppositional defiant disorder, Self-mutilati... OMIM:607872
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive i... ORPHA:500150
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Dandy... ORPHA:434179
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Failure to thrive OMIM:614098
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Genitopatellar Syndrome
Colpocephaly, Dysphagia, Agenesis of corpus callosum OMIM:606170

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 Lrrc4b

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 Lrrc4b.

No publications found that use IMPC mice or data for Lrrc4b.

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MGI Allele Allele Type Produced
Lrrc4bem1(IMPC)J Exon Deletion Mice

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