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Gene: Lrrc4b MGI:3027390

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Lrrc4bem1(IMPC)J HOM   Early adult 3.57×10-05
increased anxiety-related response Lrrc4bem1(IMPC)J HOM   Early adult 2.66×10-07
increased hematocrit Lrrc4bem1(IMPC)J HOM   Early adult 3.05×10-06
abnormal bone structure Lrrc4bem1(IMPC)J HOM   Early adult 4.51×10-08
decreased locomotor activity Lrrc4bem1(IMPC)J HOM Early adult 3.13×10-06
increased vertical activity Lrrc4bem1(IMPC)J HOM Early adult 6.32×10-05
preweaning lethality, incomplete penetrance Lrrc4bem1(IMPC)J HOM   Early adult 0.00
increased thigmotaxis Lrrc4bem1(IMPC)J HOM   Early adult 3.57×10-05
decreased grip strength Lrrc4bem1(IMPC)J HOM Early adult 9.00×10-07

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lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

7 Images

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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
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Seizure, Bruxism ORPHA:356996
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, EEG abnormality, Seizure, Dementia, Disinhibition, Gait disturbance, Myo... OMIM:618193
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Depression, Athetosis, Dementia, Thalamic calcification, Cognitive impairment, Memory imp... OMIM:615483
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... ORPHA:2382
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, EEG with abnormally slow frequencies, Inability to walk, T2 hypointense thalamus, Unstead... ORPHA:1947
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Hypsarrhythmia, Seizure, Dysphagia, Failure to thrive OMIM:613668
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration,... OMIM:618317
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional labi... OMIM:234500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Seizure ORPHA:436151
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Irritability, Seizure OMIM:616657
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Confusion, Bilateral tonic... ORPHA:363558
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:228169
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... OMIM:239500
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Dysmetria,... ORPHA:254881
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Difficulty walking, Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Schizophrenia 15
Hyperactivity OMIM:613950
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Alexander Disease Type I
Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Seizure, Dysphagia, Palatal tremor, Fai... ORPHA:363717
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... ORPHA:467166
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Seizure, Cognitive impairment OMIM:238700
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Focal ... ORPHA:79264
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Progressi... ORPHA:248111
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Self-injuriou... ORPHA:382
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Seizure, Thalamic calcification, Limb ataxia OMIM:618824
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... ORPHA:228360
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus OMIM:605899
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity, Small for gestational age ORPHA:85288
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Seizure,... ORPHA:411515
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... OMIM:618090
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight ORPHA:324422
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Seizure, Myoclonus, Mental deterioration OMIM:615924
Leukoencephalopathy With Vanishing White Matter 5
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic... OMIM:620315
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... ORPHA:485350
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Abnormal eating behavior, A... OMIM:614963
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Focal T2 hyperintense thalamic lesion, Agitation, Status epilepticus, Failure to thrive OMIM:619046
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb at... ORPHA:135
Acute Disseminated Encephalomyelitis
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, ... ORPHA:83597
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... ORPHA:500180
Lissencephaly 4
Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature OMIM:614019
Neuroferritinopathy
T2 hypointense thalamus, Chorea, Subcortical dementia, Abnormal thalamic MRI signal intensity, Fr... ORPHA:157846
Intellectual Developmental Disorder, X-Linked 104
Seizure, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Dementia, Ina... OMIM:221770
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms OMIM:619470
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal thalamic MRI signal intensity, Imp... ORPHA:254930
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Failure to thrive OMIM:618362
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Focal T2 hyperintense th... OMIM:613724
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... OMIM:615516
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Compulsive behaviors, Atte... OMIM:261600
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Bruxism, Abn... OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized non-motor (abse... OMIM:617600
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age, Myoclonus OMIM:619057
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Gait imbalance, Intrauterine gr... ORPHA:488635
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Seizure, Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Short stature, Elevated circulating growth hormone concentra... OMIM:608747
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Epileptic spasm, Decreased nerve conduction velocity, Abnormal thalamic MRI signal intensity, Hyp... ORPHA:485421
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizu... OMIM:619239
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Febrile seizure (within ... ORPHA:404440
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity, Failure to thrive OMIM:274270
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Focal-onset seizure, Decreased thalamic volume, Myoclonic seizure OMIM:619072
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Dementia, Ataxia, Depression OMIM:615889
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure OMIM:612716
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Seizur... OMIM:615286
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Seizure, Gait dis... OMIM:614104
Central Neurocytoma
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression ORPHA:73256
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Impulsivity, Aggressive behavior, Dilated third ventricle, Over... ORPHA:500055
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Attention deficit hyperactivity disorder, Dilated third ventricle, Abnormal repetitive ma... OMIM:619725
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Anorexia, EEG with bur... ORPHA:79139
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... ORPHA:98794
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria... OMIM:620242
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder OMIM:301013
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:300558
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Abnormal temper tantrums, Attention deficit hyperactivity disorder,... ORPHA:300573
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Seizure, Abnormal t... ORPHA:300570
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... OMIM:619467
Tay-Sachs Disease
Short attention span, Inability to walk, Typical absence seizure, Abnormal thalamic MRI signal in... ORPHA:845
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Seizure, Inappropriate behavior, Cognitive impairment ORPHA:309246
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Combined Oxidative Phosphorylation Defect Type 23
Seizure, Failure to thrive, Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:444013
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Lat... OMIM:617854
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Depression ORPHA:306669
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Intrauterine growth retardation, Failure to... OMIM:616034
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Truncal obesity, Bruxism, Recurrent hand flapping OMIM:613192
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Seizure, Unsteady gait OMIM:617542
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma... OMIM:613443
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Failure to thrive, Short stature, Overweight, Hydrocephalus, Head-banging, ... OMIM:619575
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Gait ataxia, Seizure, Status epilep... ORPHA:363400
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Spastic gait, Difficulty walking ORPHA:401815
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Short stature, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly,... OMIM:619833
Leigh Syndrome
Ataxia, Progressive neurologic deterioration, Infantile spasms, Chorea, Abnormal thalamic MRI sig... ORPHA:506
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Small for gestational age, Paresthesia, Cognitive impairment, Abnormal thalamus... ORPHA:2959
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature, Decreased body weight OMIM:619420
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Seizure, S... OMIM:617302
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Seizure, Gait disturbance ORPHA:88619
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphag... ORPHA:228402
Bilateral Generalized Polymicrogyria
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Lateral ventricl... ORPHA:208447
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Seizure... OMIM:600430
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Inability to walk, Lateral ventricle dilatation, Bruxism OMIM:615716
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Ataxia, Limb ataxia, Dysphagia OMIM:607596
Meningioma
Enlarged pituitary gland, Hemifacial spasm, Ataxia, Hypothalamic hypothyroidism, Reduced circulat... ORPHA:2495
Aceruloplasminemia
Ataxia, Akinesia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cogni... ORPHA:48818
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggress... OMIM:300912
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Emotional lability, Hypotha... ORPHA:2822
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Depression, Self-in... OMIM:601853
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Tongue thrusting ORPHA:77299
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Seizure, Self-mutilation ORPHA:52503
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intensity, Myoclonic seizure, Seizur... ORPHA:309155
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... ORPHA:72
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdia... OMIM:610217
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... ORPHA:449291
Developmental And Epileptic Encephalopathy 31B
Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpus callosum, Ven... OMIM:620352
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Gait di... ORPHA:43
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle ... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Lateral ventricle dilatation, Intrauterine growth retard... OMIM:617751
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, Partial agenesis of the corpus callosum, La... ORPHA:79243
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Early Infantile Epileptic Encephalopathy
Hyperactivity, Failure to thrive, Bilateral tonic-clonic seizure, Infantile spasms, Generalized c... ORPHA:1934
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Self-injurious behavi... ORPHA:544488
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be... OMIM:619244
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Limb myoclonus, Dysmet... ORPHA:139396
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dilatation, Tip-toe gait, Dil... OMIM:617296
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Progressive gait ataxia, Seizu... OMIM:105830
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Abnormal eating behavior, Aggr... ORPHA:247585
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, Inappropriate laught... OMIM:103050
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Confusion, Dysesthesia, Impaired proprioceptio... ORPHA:79138
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia ORPHA:2148
Mucopolysaccharidosis, Type Iiib
Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior OMIM:620075
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Halperin-Birk Syndrome
Inability to walk, Pseudobulbar paralysis, Colpocephaly, Intrauterine growth retardation, Failure... OMIM:618651
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Failure to thrive, Dandy-Walker mal... OMIM:618606
Chronic Bilirubin Encephalopathy
Seizure, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Seizure, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529799
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ventriculomegaly, Ataxia, Overweight, Inability to walk, Obesity, Lateral v... OMIM:619229
Congenital Muscular Dystrophy With Cerebellar Involvement
Seizure, Decreased thalamic volume ORPHA:370959
Rhombencephalosynapsis
Fusion of the left and right thalami, Ataxia ORPHA:59315
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Focal impaire... OMIM:618929
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Short stature OMIM:618330
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation, Failure to thrive in infancy ORPHA:284417
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Severe postnatal growth retardation, Lateral... ORPHA:3078
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Athetosis, Lateral ventricle di... ORPHA:572798
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Lateral ventricle dilatation, Short stature, Dysphagia OMIM:619847
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Depression, Mental deterioration, Memory impairment, Dilated third ventricle ORPHA:314404
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... ORPHA:2388
Distal Deletion 10Q
Short stature, Ataxia, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Lateral ... ORPHA:96148
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior ORPHA:85327
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Decreased bod... OMIM:609053
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Steppage gait OMIM:256850
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Failure to thrive, Irritability, Intrauterine growth retardation, Dilat... OMIM:615574
Slc35A2-Cdg
Short stature, Failure to thrive in infancy, Inability to walk, Lateral ventricle dilatation, Int... ORPHA:356961
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... ORPHA:457279
Basel-Vanagaite-Smirin-Yosef Syndrome
Aggressive behavior, Inability to walk, Lateral ventricle dilatation, Difficulty walking, Dilated... ORPHA:464738
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Failure to thrive, Short stature, Rhizomelic leg shortening, Rhizomelic arm sho... ORPHA:397715
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Obesity, ... ORPHA:54595
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure, Ataxia OMIM:620047
Glutaric Acidemia I
Choreoathetosis, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Aicardi-Goutieres Syndrome 9
Weight loss, Irritability, Lateral ventricle dilatation, Intrauterine growth retardation, Failure... OMIM:619487
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:618736
Hereditary Cryohydrocytosis With Reduced Stomatin
Seizure, Ataxia, Decreased thalamic volume ORPHA:168577
Prader-Willi Syndrome Due To Translocation
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177907
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... OMIM:620113
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
Chromosome 6Q24-Q25 Deletion Syndrome
Short attention span, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Diminished abili... OMIM:612863
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
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Hydranencephaly
Seizure, Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Bainbridge-Ropers Syndrome
Failure to thrive, Inability to walk, Growth delay, Self-injurious behavior, Lateral ventricle di... OMIM:615485
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Gabriele-De Vries Syndrome
Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disord... OMIM:617557
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:616602
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Abnormal rep... OMIM:615873
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Intrauterine growth retardation, Lateral ventricle dilatation, Tip-toe gait ORPHA:565624
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Khan-Khan-Katsanis Syndrome
Short stature, Colpocephaly, Dysphagia, Intrauterine growth retardation, Failure to thrive, Ventr... OMIM:618460
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Argininemia
Hyperactivity, Anorexia, Irritability, Seizure, Spastic gait OMIM:207800
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Dysphagia ORPHA:261250
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation ORPHA:85290
Oculocerebral Hypopigmentation Syndrome, Preus Type
Seizure, Abnormality of the diencephalon, Ataxia ORPHA:2720
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Anorexia ORPHA:91500
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation, Decreased... ORPHA:314621
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Short attention span, Pain insensitivity, Somatic sensory dysfunction... ORPHA:642
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... ORPHA:1855
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Seizure ORPHA:464321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... ORPHA:353277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Cog5-Cdg
Intrauterine growth retardation, Lateral ventricle dilatation, Short stature, Truncal ataxia ORPHA:263487
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Confusion, Abnormal hypothalamus morphology, Irritability, Seizure ORPHA:68
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Ataxia, Short stature, Inability to walk, Colpocephaly, Failure to thrive OMIM:620083
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Short stature OMIM:619995
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Athetosis, Colpocephaly, Intrauterine growth retardation, Failure to t... OMIM:614866
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of c... OMIM:617260
Norrie Disease
Cachexia, Abnormality of the diencephalon, Irritability, Self-injurious behavior, EEG abnormality... ORPHA:649
Aicardi Syndrome
Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plexus cyst, Later... OMIM:304050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Lateral ventricle dilatation, Short stature, Dysphagia OMIM:618367
Holoprosencephaly 7
Fusion of the left and right thalami, Seizure, Panhypopituitarism OMIM:610828
Smith-Lemli-Opitz Syndrome
Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Partial agenesis of the corpus ... OMIM:270400
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Attention deficit hyperact... OMIM:618820
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Progressive neurologic deterioration, Hydrocephalus, Disproportionate short stature, Partial agen... OMIM:210710
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Colpocephaly, Failure to thrive ORPHA:75857
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Short stature, Small for gestational age, Lateral ventricle dilatation,... OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Hydrocephalus, Short stature, Colpocephaly OMIM:309801
Histidinemia
Hyperactivity ORPHA:2157
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-limb short stature, V... OMIM:619479
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Hydrocephalus, Obesity, Growth delay, Agenesis of corpus callosum, Lateral v... OMIM:607872
Williams Syndrome
Ataxia, Failure to thrive in infancy, Obesity, Dysmetria, Depression, Gait disturbance, Gait imba... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus callosum, Lateral ve... ORPHA:500150
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... ORPHA:434179
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, Agenesis of corpus callosum, Dysphagia 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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