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
abnormal iris pigmentation Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.71×10-06
increased heart weight Epb41l1tm1b(EUCOMM)Wtsi HOM   Early adult 9.22×10-05
hyperactivity Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.55×10-31
increased exploration in new environment Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 2.08×10-07
abnormal eyelid morphology Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 1.55×10-05
increased startle reflex Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 5.80×10-06
abnormal locomotor behavior Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 1.39×10-05
decreased grip strength Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 1.28×10-14
decreased thigmotaxis Epb41l1tm1b(EUCOMM)Wtsi HOM Early adult 5.27×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

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 Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Forepaw

13 Images

Auditory Brain Stem Response

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

8 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
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Waardenburg Syndrome, Type 2F
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... OMIM:619947
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphag... ORPHA:411515
Usher Syndrome Type 3
Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation ORPHA:231183
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... OMIM:277580
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... OMIM:309548
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis, Ptosis ORPHA:1214
Usher Syndrome Type 1
Cataract, Iris hypopigmentation, Ataxia, Depression ORPHA:231169
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... ORPHA:2885
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Epicanthus, Synophrys, Downslanted palpebral fissures, Cogni... ORPHA:1390
Fraxe Intellectual Disability
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio... ORPHA:100973
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Riboflavin Transporter Deficiency
Iris hypopigmentation, Ataxia, Aggressive behavior, Tremor, Dysphagia, Ptosis ORPHA:97229
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy OMIM:620270
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... OMIM:619165
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Tonne-Kalscheuer Syndrome
Broad-based gait, Aggressive behavior, Tremor, Blue irides, Abnormal heart morphology, Self-injur... OMIM:300978
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal... ORPHA:98794
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration OMIM:615924
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... ORPHA:895
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Telecanthus, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:619927
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows OMIM:275400
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I... ORPHA:411511
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation ORPHA:177910
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Splenomegaly, Abnormality of skin pigmentation, Athetosis, Gait disturbance... ORPHA:834
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Griscelli Syndrome Type 1
Partial albinism, Ataxia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Waardenburg Syndrome, Type 3
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... OMIM:148820
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Hyperactivity, Cataract ORPHA:85288
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, Iris hypopigmentation ORPHA:67048
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Aggressive behavior, Almond-shaped palpebral fissure, Blue iri... OMIM:619087
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Epicanthus, Unsteady gait, Blue irides, Hand tremor, Dysmetria, Upslanted palpebral fissure, Cafe... ORPHA:3041
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Xq25 Microduplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi... ORPHA:521258
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... ORPHA:3214
Angelman Syndrome
Keratoconus, Hypopigmentation of the skin, Hyperactivity, Fair hair, Ptosis, Ataxia, Broad-based ... ORPHA:72
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Depression, Gait ataxia, Irritability, Progressive cereb... ORPHA:248111
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... ORPHA:98795
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Limb tremor, Progressive gait ataxia, Fair ... OMIM:105830
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair,... ORPHA:381
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... ORPHA:98818
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
8p23.1 deletion syndrome
Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... ORPHA:2884
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Usher Syndrome Type 2
Cataract, Iris hypopigmentation, Ataxia, Depression ORPHA:231178
Chromosome Xq25 Duplication Syndrome
Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow OMIM:300979
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Synophrys, White hair, Hyp... ORPHA:894
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Hyperactivity OMIM:300928
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hyperactivity, Fair hair, Blue irides OMIM:614613
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Epicanthus, Highly arched eyebrow, Repetitive compulsive behavior, Bilateral ptosi... ORPHA:352490
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behav... OMIM:301069
Noonan Syndrome 4
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulmonic st... OMIM:610733
Deafness-Hypogonadism Syndrome
Epicanthus, Heterochromia iridis, Cognitive impairment ORPHA:90646
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect,... ORPHA:85194
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... ORPHA:54
Gand Syndrome
Hyperactivity, Narrow palpebral fissure, Tics, Inappropriate laughter, Blepharophimosis OMIM:615074
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebral fissures, Ap... ORPHA:1784
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Almond-shaped palpebral fissure, Dow... OMIM:620292
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature ... OMIM:193500
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Zellweger Syndrome
Hepatomegaly, Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Ventricul... ORPHA:912
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Hooded eyelid, Aggressive behavior, Depression, Self-injurious behavior, Compulsiv... OMIM:619467
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield spots, Abnormal heart morphology,... OMIM:214110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Short attention span, Epicanthus, Highly arched eyebrow, Aggressive ... OMIM:618342
Ck Syndrome
Hyperactivity, Epicanthus, Aggressive behavior, Almond-shaped palpebral fissure, Upslanted palpeb... OMIM:300831
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... OMIM:252920
Koolen-De Vries Syndrome
Ptosis, Hyperactivity, Cataract, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, E... OMIM:610443
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ataxia, Ocular albinism, Athetosi... ORPHA:2719
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder OMIM:617182
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Epicanthus, Aggressive behavior, Secundum atrial septal defe... OMIM:620242
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Hyperactivity, Hyperopic astigmatism, Blepharophimosis, Ptosis ORPHA:397973
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Splenomegaly, Ocular al... OMIM:214500
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior OMIM:615541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation OMIM:617306
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Epicanthus, Hyperactivity, Telecanthus, Aggressive behavior, Upslanted palpebral fissure OMIM:615286
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow... ORPHA:284160
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Patent f... ORPHA:177907
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Dysphagia, Gait ataxia, Dystonia ORPHA:500180
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Patent foramen ovale, Iris coloboma, Hooded upper eyelid, ... OMIM:619539
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... ORPHA:3440
Wyburn-Mason Syndrome
Irritability, Iris hypopigmentation ORPHA:53719
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Epicanthus, Hyperopic astigmatism, Upslanted palpebral fissure, Narrow palpebral f... ORPHA:363686
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Attention deficit hy... ORPHA:3205
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Epicanthus, Cataract, Ventricular septal defect, Brushfield spots, Unsteady gait, U... OMIM:214100
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... ORPHA:79430
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Intellectual Developmental Disorder, X-Linked 107
Upslanted palpebral fissure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive ... OMIM:301013
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Upslanted palpebral fissure, Self-inju... OMIM:600430
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration t... ORPHA:163681
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Proteus-Like Syndrome
Cataract, Splenomegaly, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal dermoid... ORPHA:2969
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Progressive psychomotor deterioration, Gait ataxia, ... ORPHA:363400
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Microcornea, Euryblepharon, Down... ORPHA:2995
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Ptosis, Ventricular septal defect, Epicanthus, Ataxia, Aggressive be... ORPHA:369891
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Epicanthus, Telecanthus, Ataxia, Broad-based ... ORPHA:438216
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... OMIM:614077
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Self-inj... ORPHA:228402
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Abnormal iris pigmentation OMIM:132900
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Tremor, Pericardial effusi... ORPHA:167
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Epicanthus, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agi... OMIM:618056
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... ORPHA:98793
Juvenile Xanthogranuloma
Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-au-lait spots, Blepharitis ORPHA:158000
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Nail-biting, Hyperactivity, Epicanthus, Thick eyebrow, Abnormal heart morpholo... ORPHA:485405
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... ORPHA:177901
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslante... OMIM:176270
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Epicanthus, Cataract, Ventricular septal defect, Palpebral edema, Brushfield spots,... OMIM:614866
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Hyperpigmentation of the skin, Ataxia, Akinesia, Tremor,... OMIM:234200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia,... ORPHA:98754
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Abnormal pupil morpholo... ORPHA:233
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... OMIM:617865
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Telecanthus, Ataxia, Splenom... ORPHA:163746
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:610217
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Mitral valve prolapse, Irri... ORPHA:449291
Nail-Patella Syndrome
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les... ORPHA:2614
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Athetosis, Dystonia, Self-mutilation, Ptosis ORPHA:52503
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, At... ORPHA:636
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Cognitive impairme... ORPHA:43
Knobloch Syndrome 1
Epicanthus, Telecanthus, Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract,... OMIM:267750
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, Gait d... OMIM:619259
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Familial Dysautonomia
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... ORPHA:1764
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnormality of the orbital regi... ORPHA:42775
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... ORPHA:845
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Down Syndrome
Epicanthus, Ventricular septal defect, Brushfield spots, Complete atrioventricular canal defect, ... OMIM:190685
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Hepatosplenomega... OMIM:609136
Stiff-Person Syndrome
Vitiligo, Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Dysphagia, M... OMIM:252930
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Irritability, Exaggerated startle response, Short attention span OMIM:617864
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Upslanted palpebral fissure, Abnormal cardiac septum morphology, Ocular albinism, Blepharophimosis ORPHA:1352
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Ptosis OMIM:608747
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterio... OMIM:268800
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hepatomegaly, Confusion, Abnormal eating behavior, Aggressive behavi... ORPHA:247585
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Tremor, Dysmetria, Compulsive behaviors, Atrial septal defec... ORPHA:904
Nail-Patella Syndrome
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Acrodysostosis 1 With Or Without Hormone Resistance
Epicanthus, Blue irides, Melanocytic nevus OMIM:101800
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-m... ORPHA:2388
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Epicanthus, Telecanthus, Thick ey... ORPHA:319182
Vici Syndrome
Hypopigmentation of hair, Cataract, Epicanthus, Albinism, Dilated cardiomyopathy, Ocular albinism... OMIM:242840
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia, Thick eyebrow OMIM:620047
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Epicanthus, Albinism, Splenomegaly, Ocular albinism... OMIM:608233
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Dystonia OMIM:617050
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Developmental And Epileptic Encephalopathy 49
Thick eyebrow, Hyperactivity, Long eyelashes, Exaggerated startle response OMIM:617281
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Atrial septal defect, Patent foramen ovale OMIM:620327
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Glycine Encephalopathy With Normal Serum Glycine
Ptosis, Exaggerated startle response, Long eyelashes, Dysphagia OMIM:617301
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharoph... OMIM:604292
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Short attention span, Epicanthus, Bicuspid aortic valve, Ventricul... OMIM:194050
Legius Syndrome
Short attention span, Hyperactivity, Inguinal freckling, Cataract, Dystonia, Axillary freckling, ... ORPHA:137605
Trisomy 8P
Abnormal atrioventricular connection, Abnormal left ventricle morphology, Upslanted palpebral fis... ORPHA:264450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Telecanthus, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharophimosis, Gen... OMIM:129900
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Oculoectodermal Syndrome
Atrial septal defect, Hyperactivity, Epicanthus, Hyperpigmented streaks, Chorioretinal atrophy, M... OMIM:600268
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Irritability, Spastic gait OMIM:207800
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Ventricular septal defect, Dextrocardia, Synophrys, Coronary artery fistula, Abnor... OMIM:614294
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Epiblepharon, Irritability, Dysphagia, Thick eyebrow OMIM:618367
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Dilated cardiomyopathy, Myocardial fibrosis, Transpositio... OMIM:253800
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Palpebral edema, Ataxia, Aggressive behavior, Unsteady gait, Han... OMIM:614756
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal heart valve morphology, Dilated cardi... ORPHA:1606
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Retinoblastoma
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis ORPHA:790
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Dysphagia OMIM:617527
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:438213
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy, Dystonia ORPHA:79255
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Epicanthus, Ventricular septal defect, Telecanthus, Narrow palpebra... OMIM:619522
Histidinemia
Hyperactivity ORPHA:2157
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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Epb41l1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Epb41l1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Epb41l1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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