Gene Summary

Name:
fascin actin-bundling protein 1
Synonyms:
Fan1,  fascin-1

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
decreased thigmotaxis Fscn1tm1.1(KOMP)Vlcg HET Early adult 5.75×10-06
preweaning lethality, incomplete penetrance Fscn1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
hyperactivity Fscn1tm1.1(KOMP)Vlcg HET   Early adult 4.44×10-09
abnormal behavior Fscn1tm1.1(KOMP)Vlcg HET Early adult 5.75×10-06

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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% (3 of 3)
Brain  Section images heterozygote 66.67% (2 of 3)
Brown adipose tissue  Section images heterozygote 100% (1 of 1)
Cerebellum  Section images heterozygote 33.33% (1 of 3)
Colon  Section images heterozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 100% (1 of 1)
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Eye  Section images heterozygote 100% (3 of 3)
Gonadal fat pad  Section images heterozygote 100% (1 of 1)
Heart  Section images heterozygote 66.67% (2 of 3)
Ileum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (3 of 3)
Liver  Section images heterozygote 100% (3 of 3)
Lung  Section images heterozygote 33.33% (1 of 3)
Mesenteric adipose tissue  Section images heterozygote 100% (1 of 1)
Midbrain  Section images heterozygote 100% (1 of 1)
Olfactory lobe  Section images heterozygote 66.67% (2 of 3)
Pancreas  Section images heterozygote 100% (3 of 3)
Penis  Section images heterozygote 100% (1 of 1)
Peyer's patch  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 66.67% (2 of 3)
Quadriceps  Section images heterozygote 100% (1 of 1)
Sciatic nerve  Section images heterozygote 100% (1 of 1)
Skin  Section images heterozygote 33.33% (1 of 3)
Spinal cord  Section images heterozygote 100% (3 of 3)
Spleen  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Thymus  Section images heterozygote 66.67% (2 of 3)
Tongue  Section images heterozygote 100% (1 of 1)
Trigeminal V nerve  Section images heterozygote 100% (1 of 1)
White adipose tissue  Section images heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cecum N/A heterozygote 66.67% (2 of 3)
Cerebral cortex N/A heterozygote 66.67% (2 of 3)
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 3)
Hypothalamus N/A heterozygote 0.0% (0 of 3)
Jejunum N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 66.67% (2 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote 66.67% (2 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 0.0% (0 of 3)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 66.67% (2 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 3)
Vesicular gland N/A heterozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (5 of 5)
Chorioallantoic placenta N/A homozygote 100% (3 of 3)
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A 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)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 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)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
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)
gut 1.72% (1 of 58)
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)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
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)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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

84 Images

Embryo LacZ

LacZ images wholemount

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Fscn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fscn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Metatarsus adductus, Torticollis, Genu valgum, Spastic ataxia, H... ORPHA:300570
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Death in childhood, Accumulation of... OMIM:607624
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Ataxia, Subcortical cerebral atrophy, Cerebr... ORPHA:33445
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Polyphagia, Ataxia, Cessation of head growth, Hy... ORPHA:411515
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypermobility of toe joints, Hypoplasia of the corpus callosum, Gait imbalance, Abno... ORPHA:488635
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Death in childhood, Accumul... OMIM:256710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hip dysplasia, Sleep apnea, Small nail, Hypoplasia of the corpus callosum, Widow's peak, Ventricu... OMIM:616975
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Polyphagia, Narrow palm, Small hand, Abnormality... ORPHA:177910
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Hemiatrophy, Bradykinesia, Neonatal asphyxia, Cerebral cortical hem... ORPHA:306669
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges... ORPHA:2513
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Sleep apnea, Hypoplasia of the corpus callosum, Hypoplastic hippo... OMIM:618606
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Alg13-Cdg
Adducted thumb, Abnormal lateral ventricle morphology ORPHA:324422
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, Ataxia, White eyelashes... ORPHA:2884
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin OMIM:610798
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Pachygyria, Colpocephaly OMIM:614870
Al-Raqad Syndrome
Inability to walk, Sandal gap, Unsteady gait, Microcephaly, Brachydactyly, Hypopigmentation of th... OMIM:616459
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Slc35A2-Cdg
Abnormality of long bone morphology, Hip subluxation, Cerebral white matter atrophy, Elevated cir... ORPHA:356961
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Red hair, Pituitary hypothyroidism, Decreased response to growth hormone stimuation t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Red hair, Pituitary hypothyroidism, Decreased response to growth hormone stimuation t... ORPHA:71526
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Dandy-Walker malformation, Athetosis OMIM:257800
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Glutamine Deficiency, Congenital
Apnea, Hypoplasia of the corpus callosum, Camptodactyly, Subependymal cysts, Neonatal death, Neon... OMIM:610015
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Agene... OMIM:227646
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Talipes equinovarus, Colpoce... ORPHA:401815
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Menkes Disease
Sparse hair, Death in childhood, Metaphyseal widening, Microcephaly, Hypopigmentation of the skin... OMIM:309400
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Hypoplastic toenails, Sparse eyebrow, Small nail, Absent eyelashes, Tapered toe, Absent eyebrow, ... ORPHA:544488
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Dilated third ventricle, Short digit, Ventriculomegaly, Rhizomelic leg sho... ORPHA:397715
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Agenesis of corpus callos... OMIM:618651
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Multiple lentigines, Ab... OMIM:615280
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Difficulty walking, Dysphagia, Hypoplasia of the corpus callosum, Multifocal hyperin... ORPHA:488627
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Dysphagia, Hypoplasia of the corpus callosum, Ga... ORPHA:98794
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Agenesis of corpus callosum, Absent septum pellucidum, Short 1st metaca... OMIM:609053
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Dysphagia, Gait imbalance, Ataxia, Abnormal eati... ORPHA:411511
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Vici Syndrome
Abnormality of retinal pigmentation, Agenesis of corpus callosum, Gray matter heterotopia, Decrea... ORPHA:1493
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Low anterior hairline, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of... OMIM:618736
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Weaver Syndrome
Broad thumb, Camptodactyly, Metatarsus adductus, Prominent fingertip pads, Limited elbow extensio... OMIM:277590
Classic Phenylketonuria
Hypopigmentation of hair, Cerebral calcification, Microcephaly, Hypopigmentation of the skin, Att... ORPHA:79254
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Dysphagia, Gait imbalance, Cessation of head gro... ORPHA:98795
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Pulmonary arterial hypertension, Dilated third ventricle, Cavum septum pellucidum... ORPHA:464738
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Dilation of ... OMIM:616816
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebra... ORPHA:565624
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyri... OMIM:617751
Weiss-Kruszka Syndrome
Highly arched eyebrow, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618619
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Camptodactyly, Cerebral white matter hypoplasia, Broad eyebrow, Ulna... ORPHA:261552
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Subependymal cysts, Multifocal cerebral white matter abnormalities, D... OMIM:600721
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Dysphagia, Hypopl... ORPHA:2148
Distal Monosomy 10Q
Short metatarsal, Widow's peak, Sandal gap, Spina bifida occulta, Prominent fingertip pads, Hip d... ORPHA:96148
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Congenital hip dislocation, Dilated fourth ventricle, Apneic episodes in infa... ORPHA:3078
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Absent radius, Cafe-au-lait spot, Short thumb, Absent thumb, Mi... OMIM:600901
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Spondyloenchondrodysplasia
Vitiligo, Abnormal periventricular white matter morphology, Hypoplastic ilia, Ventriculomegaly, P... ORPHA:1855
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Dysphagia, Limb ataxia, Cerebral atrophy, Dysgyria, Dysm... ORPHA:135
Mosaic Trisomy 1
2-3 finger syndactyly, Rocker bottom foot, Camptodactyly of finger, Toe syndactyly, Small nail, B... ORPHA:1692
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Absent radius, Cafe-au-lait spot, Short thumb, Absent thumb, Mi... OMIM:227650
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Small nail, Colpocephaly OMIM:618731
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... ORPHA:43
Fanconi Anemia, Complementation Group C
Absent radius, Hyperpigmentation of the skin, Cafe-au-lait spot, Short thumb, Absent thumb, Micro... OMIM:227645
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Prader-Willi Syndrome
Sleep apnea, Short palm, Generalized hypopigmentation, Frontal upsweep of hair, Hip dysplasia, Ge... OMIM:176270
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Vici Syndrome
Cutaneous anergy, Hypopigmentation of hair, Albinism, Agenesis of corpus callosum, Gray matter he... OMIM:242840
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Highly arched eyebrow, Periventricular heterotopia, Dysphagia, Hypoplasia of the c... ORPHA:261250
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Malan Overgrowth Syndrome
Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Slender long bone, Low post... ORPHA:420179
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Difficulty walking, Dysphagia, Ventriculomegaly... ORPHA:572798
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Bowed forearm bones, Forearm undergrowth, Absent radius, Absent thumb, Hydrocep... OMIM:602200
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity ORPHA:35069
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Respiratory distress, Overlapping toe, Clinodact... ORPHA:177907
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern,... OMIM:615219
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Slender ... OMIM:618156
Linear Skin Defects With Multiple Congenital Anomalies 3
Hyperpigmented streaks, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hip dysplasia, Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Polyp... ORPHA:98754
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Joint contracture o... OMIM:618914
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hip dysplasia, Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Polyp... ORPHA:98793
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hip dysplasia, Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Polyp... ORPHA:177904
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Dysphagi... ORPHA:2822
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hip dysplasia, Iris hypopigmentation, Hypopigmentation of hair, Occipital cortical atrophy, Polyp... ORPHA:177901
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Death in infancy, Death in childhood, Decreased circulating IgA level, Recurrent ... OMIM:612301
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Dysphagia, Widow's peak, 2-3 toe syndactyly, Death in adolescence, Ventriculom... OMIM:619229
Cog5-Cdg
Genu valgum, Camptodactyly of finger, Truncal ataxia, Cerebral white matter atrophy, Finger clino... ORPHA:263487
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
6Q Terminal Deletion Syndrome
Low anterior hairline, Highly arched eyebrow, Gait ataxia, Colpocephaly, Gray matter heterotopia,... ORPHA:75857
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Congen... ORPHA:457279
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplastic toenails, Sparse eyebrow, Supernumerary nipple, High anterior hairline, Hypoplasia of... ORPHA:477993
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Fragile X Syndrome
Hyperactivity OMIM:300624
Histidinemia
Hyperactivity ORPHA:2157
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Gray matter heterotopia, ... OMIM:304050
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Deep palmar crease, Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephal... ORPHA:293725
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Holoprosencephaly... OMIM:618820
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Dysphagia, Postaxial polydactyly, Clinodactyly, Microcephaly, Colpocephaly OMIM:618460
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
X-Linked Intellectual Disability, Wilson Type
Abnormal position of hair whorl, Microcephaly, Dilation of lateral ventricles ORPHA:85290
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Dilation of lateral ... OMIM:607485
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Genitopatellar Syndrome
Agenesis of corpus callosum, Short phalanx of finger, Congenital hip dislocation, Hypoplastic inf... OMIM:606170
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Depression, Apathy, Self-injurious behavior, Blepharospasm, Se... ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Secretory IgA deficiency, Sparse eyebrow, Broad lateral eyebrow, Abnormal cerebral cortex morphol... ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad thumb, Abnormal proximal phalanx morphology of the hand, Polydactyly, Pneumonia, Hyperactiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad thumb, Abnormal proximal phalanx morphology of the hand, Polydactyly, Pneumonia, Hyperactiv... ORPHA:353277
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Hydrocephalus, Pigmentary retinopathy, Absent septum pellucidum, Mic... OMIM:309801
Citrullinemia Type Ii
Lethargy, Irritability, Aggressive behavior, Hyperactivity ORPHA:247585
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Glutaric Acidemia I
Dystonia, Dilation of lateral ventricles OMIM:231670
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Pachygyr... OMIM:263520
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Chromosome 1P36 Deletion Syndrome
Camptodactyly, Cerebral cortical atrophy, Metatarsus adductus, Hydrocephalus, Hip dysplasia, Pach... OMIM:607872
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Camptodactyly, Cerebral white matter hypoplasia, Broad eyebrow, Ulna... ORPHA:261537
Wiedemann-Steiner Syndrome
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity ORPHA:319182
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... ORPHA:805
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Thick eyebrow, Microcephaly, Dilation of lat... OMIM:300896

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 Fscn1

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 Fscn1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse T cell priming is enhanced by maturation-dependent stiffening of the dendritic cell cortex. eLife (July 2020) Fscn1tm1(KOMP)Vlcg PMC7417170

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MGI Allele Allele Type Produced
Fscn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fscn1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Fscn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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