Gene: Epb41l1 MGI:103010

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Gene Summary

Name:
erythrocyte membrane protein band 4.1 like 1
Synonyms:
4.1N,  Epb4.1l1

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 startle reflex Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 4.70×10-06
abnormal locomotor behavior Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 1.32×10-05
hyperactivity Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.65×10-31
decreased thigmotaxis Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 9.52×10-05
decreased grip strength Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 3.53×10-12
abnormal iris pigmentation Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.64×10-06
increased heart weight Epb41l1tm1b(EUCOMM)Wtsi HOM   Early adult 9.32×10-05
increased exploration in new environment Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.12×10-07
abnormal eyelid morphology Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 1.50×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote Ambiguous
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote Ambiguous
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote Not available
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

42 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Epb41l1 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.

The table below shows human diseases associated to Epb41l1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Self-injurious behavior, Dystonia ORPHA:178469
Chromosome 20Q11-Q12 Deletion Syndrome
OMIM:614257

The table below shows human diseases predicted to be associated to Epb41l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Epicanthus, Aggressive behavior, Hyperactivity OMIM:309548
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia, Fair hair, Blue irides OMIM:276880
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Fair hair, Cataract, Irritability, Anxiety, Hyp... OMIM:261600
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Epicanthus, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Waardenburg Syndrome, Type 2D
Telecanthus, Heterochromia iridis OMIM:608890
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Inappropriate laughter, Ataxia, Happy demeanor, ... ORPHA:411515
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Usher Syndrome Type 3
Iris hypopigmentation, Depression, Ataxia, Cataract, Anxiety, Astigmatism ORPHA:231183
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Waardenburg Syndrome, Type 4A
White eyebrow, Premature graying of hair, Heterochromia iridis, Ataxia, White eyelashes, White fo... OMIM:277580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Waardenburg Syndrome, Type 4B
White eyebrow, Premature graying of hair, Heterochromia iridis, White eyelashes, White forelock, ... OMIM:613265
Usher Syndrome Type 1
Iris hypopigmentation, Depression, Ataxia, Cataract, Anxiety ORPHA:231169
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Hyperactivity, Blue irides OMIM:615516
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Anxiety, Abnormality of the palpebral fissures... ORPHA:521258
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Epicanthus, Thick eyebrow, Anxiety, Hyperactivity OMIM:300979
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Iris hypopigmentation, Tremor, Epicanthus ORPHA:79095
Progressive Hemifacial Atrophy
Ptosis, Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Immunodeficiency 8
Hyperactivity OMIM:615401
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Epicanthus, Synophrys, Ptosis, Cogniti... ORPHA:1390
Riboflavin Transporter Deficiency
Iris hypopigmentation, Tremor, Aggressive behavior, Ataxia, Ptosis ORPHA:97229
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigm... OMIM:619165
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, Synophrys, White eyelas... OMIM:193510
Coffin-Siris Syndrome 8
Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis, Hyperactivity OMIM:618362
Fraxe Intellectual Disability
Impulsivity, Epicanthus, Aggressive behavior, Hyperactivity ORPHA:100973
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Ptosis, White forelock... ORPHA:895
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Mental Retardation, Buenos Aires Type
Curly eyelashes, Atrial septal defect, Long eyelashes, Fair hair, Spastic gait, Ptosis, Downslant... OMIM:249630
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety OMIM:606438
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hepatomegaly, Hyperactivity, Mental deterioration OMIM:615924
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Oliver-Mcfarlane Syndrome
Central heterochromia, Long eyebrows, Long eyelashes, Pigmentary retinopathy OMIM:275400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Insulin-Like Growth Factor I Deficiency
Ptosis, Hyperactivity OMIM:608747
Noonan Syndrome 13
Highly arched eyebrow, Almond-shaped palpebral fissure, Atrial septal defect, Aggressive behavior... OMIM:619087
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Trisomy X
Tremor, Depression, Upslanted palpebral fissure, Epicanthus, Anxiety, Cognitive impairment, Atten... ORPHA:3375
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Ataxia, Partial albinism ORPHA:79476
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus, Hyperactivity ORPHA:85288
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... ORPHA:3077
Frontofacionasal Dysplasia
Brushfield spots, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Cataract, Ptosis, Telec... ORPHA:1791
Waardenburg Syndrome, Type 3
Heterochromia iridis, Blepharophimosis, Premature graying of hair, Synophrys, Hypopigmented skin ... OMIM:148820
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Self-mutilation, Upslanted palpebral fissure, Epicanthus, Unsteady gait, Cafe-au-lait spot, Dysme... ORPHA:3041
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Gait disturbance, Iris coloboma, Micr... ORPHA:3214
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Tremor, Inappropriate laughter, Hypopigmentation of hair, Ataxia, Hypopigm... ORPHA:98794
Intellectual Developmental Disorder, X-Linked 107
Upslanted palpebral fissure, Hyperactivity OMIM:301013
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Synophrys, Hyperactivity OMIM:615541
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Usher Syndrome Type 2
Iris hypopigmentation, Depression, Ataxia, Cataract, Anxiety ORPHA:231178
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Aggressive behavior, Epicanthus, Hyperactivity, Downslanted palpebral fiss... OMIM:618342
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Inappropriate laughter, Ataxia, Hypopigmentation... ORPHA:411511
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash m... ORPHA:381
Clark-Baraitser Syndrome
Aggressive behavior, Upslanted palpebral fissure, Narrow palpebral fissure, Epicanthus, Hyperacti... OMIM:617752
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Piebaldism
Hypopigmentation of hair, White eyebrow, Heterochromia iridis, Synophrys, Ataxia, White eyelashes... ORPHA:2884
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Synophrys, Hyperactivity OMIM:615824
Angelman Syndrome
Inability to walk, Keratoconus, Tremor, Inappropriate laughter, Iris hypopigmentation, Aggressive... ORPHA:72
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology, Hyperactivity DECIPHER:39
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617773
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Gait disturbance, Ataxia, Hepatomegaly, ... ORPHA:834
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Angelman Syndrome
Progressive gait ataxia, Fair hair, Limb tremor, Paroxysmal bursts of laughter, Blue irides, Hype... OMIM:105830
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides, Hyperactivity OMIM:614613
Ck Syndrome
Almond-shaped palpebral fissure, Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Ir... ORPHA:251383
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Alazami-Yuan Syndrome
Highly arched eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hyperactivity OMIM:617126
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyebrow, Premature graying of hair, Heterochromia iridis, White h... ORPHA:894
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Ck Syndrome
Almond-shaped palpebral fissure, Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Ir... OMIM:300831
Hyperlysinemia, Type I
Cognitive impairment, Ectopia lentis, Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Hyperactivity, Telecanthus OMIM:615286
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Gand Syndrome
Narrow palpebral fissure, Inappropriate laughter, Blepharophimosis, Hyperactivity OMIM:615074
Spondylo-Ocular Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Ventricular septal defect, Cataract, Aplasia/... ORPHA:85194
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Depression, Self-injurious behavior, Cataract, Motor deteriorat... ORPHA:79254
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Freckling, Giant melanosomes in melanocytes, Ocular albinism, Astigmatism,... ORPHA:54
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Brushfield spots, Hypopigmented skin patches, Ptosis, Aplasia/Hypoplasia of the ... ORPHA:1784
Deafness-Hypogonadism Syndrome
Cognitive impairment, Epicanthus, Heterochromia iridis ORPHA:90646
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Asymmetric septal hypertrophy, Aggressive behavior, Synophr... OMIM:252920
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Uveitis, Patent foramen... OMIM:617044
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Noonan Syndrome 4
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Epicanthus, Pulmonic stenosis, P... OMIM:610733
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Ventricular septal defect, Upslanted palpebr... ORPHA:912
Waardenburg Syndrome, Type 1
White eyebrow, Blepharophimosis, Premature graying of hair, Heterochromia iridis, Synophrys, Thic... OMIM:193500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Abnormal heart morphology, Palpebral edema, Epicanthus,... OMIM:614866
Koolen-De Vries Syndrome
Iris hypopigmentation, Atrial septal defect, Blepharophimosis, Ventricular septal defect, Upslant... OMIM:610443
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Sotos Syndrome 3
Hyperactivity OMIM:617169
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Abnormal heart morphology, Palpebral edema, Upslanted p... OMIM:214110
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Ocular albinism, Hypoplasia of th... OMIM:611584
Chediak-Higashi Syndrome
Iris hypopigmentation, Tremor, Hypopigmentation of hair, Giant melanosomes in melanocytes, Gait d... OMIM:214500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Gait imbalance, Broad-based gait, Hypopigmentati... ORPHA:98795
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Hepatomegaly, Partial... ORPHA:79477
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Atrial septal defect, Abnormal heart morphology, Upslanted palpebral fissu... ORPHA:352490
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Ptosis, Hyperactivity, Hyperopic astigmatism, Telecanthus ORPHA:397973
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Hyperactivity OMIM:300434
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, White eyebrow, Premature graying of hair, Heterochromia iridis, White ... OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ectropion, Corneal opacity, Ataxia, Ocular albin... ORPHA:2719
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, Ataxia, Cataract, Generalized hypopigmentation ORPHA:2720
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Thick eyebrow, Happy demeanor, Hyperactivity, Broad-based gait OMIM:617865
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Upslanted palpebral fissure, Epicanthus, Ataxia, Exaggerated startle response, Long pal... ORPHA:438216
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Aggressive behavior, Blepharophimosis, Self-injurious behavior, Narrow pal... OMIM:600430
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Impulsivity, Synophrys, Hyperactivity OMIM:300143
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Blepharophimosis, Epicanthus, Corneal opacity, Cataract, Ptosis, Sclerocor... ORPHA:284160
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, A... ORPHA:177907
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Ventricular septal defect, Epicanthus, Synophrys, Self-biting, Hyperactivity... ORPHA:3306
Wyburn-Mason Syndrome
Iris hypopigmentation, Irritability ORPHA:53719
Coffin-Siris Syndrome 7
Abnormal heart morphology, Thick eyebrow, Hyperactivity, Downslanted palpebral fissures, Abnormal... OMIM:618027
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Chromosome 22Q13 Duplication Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Bipolar affective disorder, Attention deficit h... OMIM:615538
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
Hermansky-Pudlak Syndrome 11
Albinism, Melanocytic nevus, Ocular albinism, Fair hair, Iris transillumination defect OMIM:619172
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Down Syndrome
Complete atrioventricular canal defect, Upslanted palpebral fissure, Brushfield spots, Epicanthus OMIM:190685
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Abnormal tricuspid valve morphology, Unilateral ptosis, Abnor... ORPHA:485405
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Limb dystonia, ... ORPHA:363400
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Opacification of the cor... OMIM:601853
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Proteus-Like Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Cataract, Splenomegaly, Downslanted palpebral ... ORPHA:2969
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ventricular septal defect, Depression, Ptosis, Cardiomegaly, Anxiety, Att... OMIM:618798
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Downslanted palpebral fissures, Abnormal cardiac septum morphology, ... OMIM:614294
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Blepharitis ORPHA:158000
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, Long palpebral fissure, Aggressive behavior, Hyperactivity OMIM:616809
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Long eyelashes, Synophrys, Hepatomegaly, Cardiomegaly OMIM:619064
Chédiak-Higashi Syndrome
Inability to walk, Iris hypopigmentation, Tremor, Abnormality of retinal pigmentation, Hypopigmen... ORPHA:167
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Astigm... OMIM:203100
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Bicuspid aortic valve OMIM:132900
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpe... OMIM:176270
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Rubinstein-Taybi Syndrome 2
Downslanted palpebral fissures, Long eyelashes, Hyperactivity OMIM:613684
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Upslanted palpebral fissure, Narrow palpebral fissure, E... ORPHA:363686
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Ptosis, Left ventricular hypertrophy, Cardiomegaly, Astigmatism, Cardiomyopathy OMIM:617713
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Long eyelashes, Ocular albini... ORPHA:79430
Sturge-Weber Syndrome
Conjunctival telangiectasia, Heterochromia iridis, Iris coloboma, Abnormal choroid morphology, At... ORPHA:3205
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Self-injurious behavior, Synophrys, Ataxia, Paroxysmal bursts of laughter,... ORPHA:228402
Duane Retraction Syndrome
Aniridia, Central heterochromia, Irregular hyperpigmentation, Chorioretinal coloboma, Blepharophi... ORPHA:233
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Ventricular septal defect, Upslanted palpebral fissure,... OMIM:214100
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Horizontal eyebrow, Abnormal heart morphology, Ventricular septal defect, Up... ORPHA:369891
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Ptosis, Hyperactivity, Athetosis ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Stiff-Person Syndrome
Vitiligo, Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Emotional lability, Im... OMIM:610217
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Emotional lability, Corneal scarring, Opacification of the corneal stroma, Kerat... OMIM:256800
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
19P13.3 Microduplication Syndrome
Ventricular septal defect, Upslanted palpebral fissure, Self-injurious behavior, Epicanthus, Irri... ORPHA:447980
Nail-Patella Syndrome
Abnormal iris pigmentation, Primary congenital glaucoma, Toe walking, Antecubital pterygium, Lest... ORPHA:2614
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, S... ORPHA:398073
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Eyelid apraxia, Tremor, Akinesia, Dementia, Depression, Pigmentary retinopathy, Gait di... OMIM:234200
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Synophrys, Hyperactivity ORPHA:391307
Mental Retardation, Autosomal Recessive 13
Synophrys, Hyperactivity OMIM:613192
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Dementia, Exaggerated startle response OMIM:272750
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Opi... OMIM:103050
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, Heterochromia iridis, Ataxia, White eyelashes, White forelock, Hypopigmented skin ... OMIM:609136
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Premature graying of hair, Difficulty walking, Epicanthus, ... OMIM:123450
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Heterochromia iridis, Palpebral edema, Epicanthus, Iris coloboma, Ptosis, ... ORPHA:2995
Refsum Disease, Classic
Ataxia, Cataract, Ptosis, Cardiomegaly, Cardiomyopathy OMIM:266500
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... ORPHA:1942
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Gait disturbance, Corneal opacity, Ataxia, Abnormal pupil ... ORPHA:1764
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, S... ORPHA:98754
Neurofibromatosis Type 1
Chorioretinal coloboma, Lisch nodules, Abnormality of retinal pigmentation, Freckling, Abnormal e... ORPHA:636
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Hyperactivity, Mood swings OMIM:300354
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, S... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, S... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Skin-picking, Almond-shaped palpebral fissure, S... ORPHA:177901
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, M... ORPHA:449291
Smith-Magenis Syndrome
Self-mutilation, Abnormal heart morphology, Synophrys, Head-banging, Hyperactivity OMIM:182290
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Phace Syndrome
Heterochromia iridis, Abnormal heart morphology, Iris coloboma, Lens coloboma, Cataract, Ptosis, ... ORPHA:42775
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Depression, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Ca... OMIM:619259
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Synophrys, Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252900
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Synophrys, Hepatomegaly, Motor deterioration, Splenomegaly, Hypera... OMIM:252930
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Pediatric-Onset Graves Disease
Tremor, Abnormal eyelid morphology, Hepatomegaly, Splenomegaly, Irritability, Keratitis, Hyperact... ORPHA:525731
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Upslanted palpebral fissure, Ocular albinism, Blepharophimosis ORPHA:1352
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Epicanthus, Ataxia, Anxiety, Hyperactivity OMIM:618430
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Blepharophimosis, Epicanthus, Synophrys, Hyperactivity, Downslanted ... ORPHA:85293
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Hermansky-Pudlak Syndrome 10
Dystonia, Albinism, Ocular albinism, Hepatomegaly, Splenomegaly OMIM:617050
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Downslanted palpebral fissures, Long eyelashes, Hyperactivity OMIM:618089
Acrodysostosis 1 With Or Without Hormone Resistance
Melanocytic nevus, Epicanthus, Blue irides OMIM:101800
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Aggressive behavior, Upslanted palpebral fissure, Epicanthus, Hyperactivity... OMIM:609625
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal heart morphology, Narrow palpebral fissure, Ptosis, Eyelid coloboma, Down... OMIM:615873
Sandhoff Disease
Ataxia, Hepatomegaly, Progressive psychomotor deterioration, Exaggerated startle response, Cardio... OMIM:268800
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Mend Syndrome
Cataract, Aortic valve stenosis, Hyperactivity OMIM:300960
Williams Syndrome
Abnormal endocardium morphology, Corneal opacity, Megalocornea, Cardiomegaly, Mitral valve prolap... ORPHA:904
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Glass Syndrome
Aggressive behavior, Happy demeanor, Hyperactivity, Downslanted palpebral fissures, Broad-based gait OMIM:612313
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Ptosis, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin OMIM:614171
13Q12.3 Microdeletion Syndrome
Self-mutilation, Upper eyelid edema, Hyperactivity ORPHA:412035
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Ptosis, Cafe-au-lait spot, Hyperactivity, Attention deficit hyperactivity disorder, Congenital bi... ORPHA:73272
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Iris hypopigmentation, Astigmatism ORPHA:85167
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Epicanthus, Long eyelashes, Synophrys, Low frustr... ORPHA:319182
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity OMIM:300624
Hermansky-Pudlak Syndrome 2
Albinism, Upslanted palpebral fissure, Epicanthus, Ocular albinism, Fair hair, Hepatomegaly, Sple... OMIM:608233
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Depression, Gait disturbance, Laryngeal dystonia, Exaggerate... ORPHA:845
Joubert Syndrome 1
Self-mutilation, Highly arched eyebrow, Chorioretinal coloboma, Aggressive behavior, Epicanthus, ... OMIM:213300
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Synophrys, Hepatomegaly, Thick eyebrow, Splenomegaly, Hyperactivity OMIM:252940
Intellectual Disability-Strabismus Syndrome
Highly arched eyebrow, Atrial septal defect, Aggressive behavior, Upslanted palpebral fissure, Ga... ORPHA:363528
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Aggressive behavior, Ventricular septal defect, Emotional lability, Low fru... OMIM:309520
Lamb-Shaffer Syndrome
Epicanthus, Ataxia, Hyperactivity ORPHA:530983
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Hyperactivity OMIM:619239
Hermansky-Pudlak Syndrome 1
Freckling, Albinism, Freckles in sun-exposed areas, Melanocytic nevus, Ocular albinism, Cardiomyo... OMIM:203300
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Hepatomegaly, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Oculoectodermal Syndrome
Atrial septal defect, Epicanthus, Opacification of the corneal stroma, Microcornea, Hyperpigmenta... OMIM:600268
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Potocki-Lupski Syndrome
Downslanted palpebral fissures, Atrial septal defect, Patent foramen ovale, Hyperactivity OMIM:610883
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Trisomy 8P
Heterochromia iridis, Upslanted palpebral fissure, Astigmatism, Abnormal left ventricle morpholog... ORPHA:264450
19P13.12 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Self-injurious behavior, Epicanthus, Synophrys, ... ORPHA:254346
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Disinhibition, Aggressive behavior, Dementia, Abnormal mitr... ORPHA:581
Williams-Beuren Syndrome
Atrial septal defect, Coronary artery stenosis, Blepharophimosis, Medial flaring of the eyebrow, ... OMIM:194050
21Q22.11Q22.12 Microdeletion Syndrome
Almond-shaped palpebral fissure, Atrial septal defect, Inappropriate crying, Self-injurious behav... ORPHA:261323
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blepharophimosis, Dacryocystitis, Fair hair, Sparse and thin eyebrow, Generalized hypopigmentatio... OMIM:604292
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Palpebral edema, Ataxia, Unsteady gait, Dysmetria, Hyperactivity, Downslante... OMIM:614756
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Cognitive impairment, Hypertrophic car... OMIM:300257
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Blepharophimosis, Dacryocystitis, Fair hair, Blue irides, Sparse and thin eyebrow, Generalized hy... OMIM:129900
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Epicanthus, Cafe-au-lait spot, Hyperactivity, Hypermelanotic macule, Telecanthus OMIM:618505
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Red hair, Blue irides, Hyperactivity ORPHA:280651
Vici Syndrome
Developmental cataract, Albinism, Hypopigmentation of hair, Ocular albinism, Left ventricular hyp... OMIM:242840
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Cafe-au-lait spot, Hypopigmented skin patches, Downslanted palpe... ORPHA:457485
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Ventricular septal defect, Epicanthus, Long eyelashes, Pulmonic stenosis, P... OMIM:607721
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Hyperactivity ORPHA:166108
Maternal Phenylketonuria
Abnormal heart morphology, Ventricular septal defect, Epicanthus, Double outlet right ventricle, ... ORPHA:2209
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Dubowitz Syndrome
Blepharophimosis, Epicanthus, Iris coloboma, Hypoplasia of the iris, Megalocornea, Ptosis, Short ... OMIM:223370
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Epicanthus, Pulmonic stenosis, Left ventricular hypertrophy, Cafe-au-lait sp... OMIM:619148
Hermansky-Pudlak Syndrome 5
Albinism, Ocular albinism OMIM:614074
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aggressive behavior, Horizontal eyebrow, Ventricular septal defect, Self-in... ORPHA:96121
16P11.2P12.2 Microdeletion Syndrome
Blepharophimosis, Epicanthus, Multiple cafe-au-lait spots, Hyperactivity, Downslanted palpebral f... ORPHA:261211
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mend Syndrome
Aggressive behavior, Abnormal heart morphology, Spotty hypopigmentation, Upslanted palpebral fiss... ORPHA:401973
Hermansky-Pudlak Syndrome 8
Astigmatism, Albinism, Ocular albinism OMIM:614077
Argininemia
Hepatomegaly, Spastic gait, Irritability, Hyperactivity OMIM:207800
Hermansky-Pudlak Syndrome 6
Albinism, Ocular albinism OMIM:614075
Bone Marrow Failure Syndrome 3
Abnormality of skin pigmentation, Hyperactivity, Epicanthus, Aplasia/Hypoplasia of the eyebrow, D... OMIM:617052
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Abnormality of retinal pigmentation, Aggressive behavior, A... ORPHA:580
White-Sutton Syndrome
Vitiligo, Aggressive behavior, Abnormal heart morphology, Self-injurious behavior, Iris coloboma,... ORPHA:468678
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Cardiac rhabdomyoma, Aggressive behavior, Depression, Self-injuriou... ORPHA:805
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Brain-Lung-Thyroid Syndrome
Dystonia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Ataxia, Falls, I... ORPHA:209905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Exaggerated startle response, Catar... OMIM:253800
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Iris coloboma, Cataract, Sparse and thin eyebrow, Hyperactivity, Downslan... OMIM:234100
Retinoblastoma
Abnormality of retinal pigmentation, Heterochromia iridis, Leukocoria, Uveitis, Hypopyon ORPHA:790
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Ptosis, Long eyelashes OMIM:617301
Proteus Syndrome
Abnormality of skin pigmentation, Buphthalmos, Abnormality of retinal pigmentation, Central heter... ORPHA:744
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Horizontal eyebrow, Abnormal heart valve morphology, Gait disturbanc... ORPHA:1606
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hyperlysinemia
Tremor, Opisthotonus, Dysmetria, Hyperactivity, Thin eyebrow, Tip-toe gait ORPHA:2203
Coffin-Siris Syndrome
Atrial septal defect, Aggressive behavior, Prominent eyelashes, Abnormal heart morphology, Ventri... ORPHA:1465
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Epicanthus, Hyperactivity,... OMIM:235510
Monosomy 9Q22.3
Cardiac fibroma, Epicanthus, Cataract, Hyperactivity, Downslanted palpebral fissures ORPHA:77301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Agoraphobia, Emotional lability, Social and occupational deterioration, Panic attack, Impulsivity... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Agoraphobia, Emotional lability, Social and occupational deterioration, Panic attack, Impulsivity... ORPHA:353277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Aggressive behavior, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:353281
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus, Hyperactivity OMIM:617516
Witteveen-Kolk Syndrome
Aggressive behavior, Medial flaring of the eyebrow, Anisocoria, Upslanted palpebral fissure, Epic... OMIM:613406
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Synophrys, Hyperactivity ORPHA:447997
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Distal Trisomy 17Q
Abnormal heart morphology, Epicanthus, Blepharophimosis, Hyperactivity ORPHA:3379
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Gait disturbance, Corneal opacity, Aortic valve stenosis, Anxiety, Hyp... ORPHA:464306
Brooks-Wisniewski-Brown syndrome
Epicanthus inversus, Short palpebral fissure, Blepharophimosis, Hyperactivity OMIM:300612
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Rubinstein-Taybi Syndrome 1
Self-mutilation, Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Agorapho... OMIM:180849
Early Infantile Epileptic Encephalopathy
Tremor, Episodic ataxia, Dystonia, Ventricular septal defect, Self-injurious behavior, Hyperactivity ORPHA:1934
Monosomy 22Q13.3
Hair-pulling, Palpebral edema, Epicanthus, Long eyelashes, Thick eyebrow, Ptosis, Hyperactivity ORPHA:48652
Distal Monosomy 12Q
Self-mutilation, Patent foramen ovale, Congenital hypertrophy of left ventricle, Hyperactivity, D... ORPHA:96149
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Decreased corneal reflex, Abnormal emotion/affect behavior, Difficulty walking, ... ORPHA:642
Nijmegen Breakage Syndrome
Progressive vitiligo, Upslanted palpebral fissure, Cafe-au-lait spot, Hyperactivity OMIM:251260
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Almond-shaped palpebral fissure, Atrial septal defect, Abnormal hear... ORPHA:438213
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Histidinemia
Hyperactivity ORPHA:2157
Smith-Lemli-Opitz Syndrome
Self-mutilation, Atrial septal defect, Aggressive behavior, Ventricular septal defect, Epicanthus... OMIM:270400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Blepharophimosis, Upslanted palpebral fissure, Short palpebral fissure, Ptosis, Epicanthus invers... OMIM:309590
Tetrasomy 9P
Abnormal chorioretinal morphology, Pericarditis, Patent foramen ovale, Abnormal mitral valve morp... ORPHA:3310
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Upper eyelid entropion, Hyperactivity ORPHA:457284
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:508488
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Upslanted palpebral fissure, Epicanthus, Paroxysmal bursts of laughter, Ptosis, Hyperactivity OMIM:309580
Autosomal Dominant Non-Syndromic Intellectual Disability
Oculogyric crisis, Self-injurious behavior, Dystonia ORPHA:178469
Chromosome 20Q11-Q12 Deletion Syndrome
OMIM:614257

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 Epb41l1

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 Epb41l1.

No publications found that use IMPC mice or data for Epb41l1.

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MGI Allele Allele Type Produced
Epb41l1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Epb41l1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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