Gene Summary

Name:
HIRA interacting protein 3
Synonyms:
N/A

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 uterus morphology Hirip3tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal behavior Hirip3tm1b(KOMP)Mbp HOM   Early adult 1.07×10-06
increased heart weight Hirip3tm1b(KOMP)Mbp HOM Early adult 2.57×10-07
hyperactivity Hirip3tm1b(KOMP)Mbp HOM Early adult 5.11×10-09
decreased thigmotaxis Hirip3tm1b(KOMP)Mbp HOM   Early adult 1.07×10-06
increased brain weight Hirip3tm1b(KOMP)Mbp HOM   Early adult 1.72×10-07
abnormal auditory brainstem response Hirip3tm1b(KOMP)Mbp HOM   Early adult 5.16×10-05

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
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Cerebellum  Section images heterozygote 33.33% (1 of 3)
Colon  Section images heterozygote 66.67% (2 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Ileum  Section images heterozygote 66.67% (2 of 3)
Kidney  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Oviduct  Section images heterozygote 33.33% (1 of 3)
Spinal cord  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Testis  Section images heterozygote 66.67% (2 of 3)
Urinary bladder  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 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 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 33.33% (1 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

8 Images

Human diseases caused by Hirip3 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 Hirip3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety, Cryptorchidism OMIM:617796
Developmental And Epileptic Encephalopathy 56
Ataxia, EEG abnormality, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder OMIM:617665
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Hyperactivity, Atrial septal defect, Cr... DECIPHER:39
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Sensorineural hearing ... OMIM:616648
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, Continuous spike and waves during slow sleep, Aggr... ORPHA:98818
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Macroorchidism, Aggressive behavior, Focal EEG discharges... ORPHA:3077
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:239500
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, Personality disorder,... ORPHA:2382
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Morm Syndrome
Hyperactivity, Aggressive behavior, Micropenis ORPHA:75858
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Prominent ear helix, Impulsivity ORPHA:100973
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Emotional labi... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Ataxia OMIM:300983
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Cln5 Disease
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... ORPHA:228360
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Testicular dysgenesis, Abnormal vagina morpholog... ORPHA:168563
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait OMIM:619470
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, EEG abnormality, Anxiety OMIM:271980
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... OMIM:301013
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... ORPHA:485350
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrotia, Hyperactivity, Micropenis, Cryptorchidism, Attention deficit... OMIM:618504
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hearing impairment, Hyperactivity, Broad-based gait, Precocious puberty ORPHA:457260
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to walk, EEG abn... OMIM:618718
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears OMIM:617773
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior OMIM:618342
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Impulsivity, Ga... ORPHA:500180
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Interictal epileptiform activity, Aggressive behavior, Self-mutilatio... ORPHA:163681
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hearing impairment, Hyperactivity, Dysplastic pulmonary valve, Broad-based g... OMIM:300958
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Splenomegaly, Hearing impairment, Hyperactivity,... OMIM:252920
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia OMIM:617302
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Self-biting, Aggressive behavior, Low-set, posteriorly rotated ears, H... ORPHA:3306
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Macroorchidism, Impulsivity OMIM:300143
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Perrault Syndrome 3
Congenital sensorineural hearing impairment, Hypoplasia of the uterus, Sensorineural hearing impa... OMIM:614129
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, Aggressive behavior, EEG with photoparoxysmal ... ORPHA:168491
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Coffin-Siris Syndrome 7
Abnormal heart morphology, Macrotia, Posteriorly rotated ears, Hearing impairment, Hyperactivity,... OMIM:618027
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears ORPHA:251383
Perrault Syndrome 6
Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary, Premature ovarian insuf... OMIM:617565
Alazami-Yuan Syndrome
Hyperactivity, Cryptorchidism OMIM:617126
Fragile X Syndrome
Macroorchidism, postpubertal, Mitral valve prolapse, Macrotia, Congenital macroorchidism, Hyperac... OMIM:300624
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, Pulmonic stenosis, EEG with burst suppression, Hyperactivity, Atrial septal defect OMIM:619239
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Cryptorchidism OMIM:615824
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears OMIM:300831
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hypospadias, Aggressive behavior, Abnormality of the pinna, Hypogonadism, Hyperactiv... OMIM:300354
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Abnormal cardiac septum morphology, Cryptorchidism, Attention defici... OMIM:614294
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Mogs-Cdg
Dystonia, Optic atrophy, Hepatomegaly, External genital hypoplasia, Absent brainstem auditory res... ORPHA:79330
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Macrotia OMIM:300558
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Cryptorchidism, Attention deficit... ORPHA:352490
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... ORPHA:35069
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Macrotia, Hyperactivity, Irritability, Premature ovarian insufficiency ORPHA:391307
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, EEG with multifocal slow activity, Aggressive behavior, Hyperactivity, Thickened h... OMIM:616809
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
16P12.1P12.3 Triplication Syndrome
Large earlobe, Skin-picking, Abnormal heart morphology, Abnormal tricuspid valve morphology, Hype... ORPHA:485405
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Hearing impairment ORPHA:369939
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Optic atrophy, Cardiomegaly, Cardiomyopathy, Ataxia, Truncal ataxia, Unsteady g... OMIM:619259
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... ORPHA:101085
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Macroorchidism ORPHA:85327
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Abnormality of the pinna, Macrotia, Inappropriate laughter, Hyp... OMIM:614104
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Micropenis, Atrial septal d... OMIM:609625
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormal heart morphology, Self-mutilation, Hearing ... OMIM:182290
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Aggressive behavior, Macrotia, Hearing impa... ORPHA:369891
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evoked potentials... ORPHA:909
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ataxia, Cryptorchidism, Hy... ORPHA:228402
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis, Sensorineural hearing ... OMIM:600430
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Hyperactivity, Micropenis, Cr... ORPHA:8
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irr... ORPHA:449291
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Premature ovarian insufficiency, Gait ataxia, Progres... OMIM:615300
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Aggressive behavior, Inappropriate sexual behav... ORPHA:43
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Congenital sensorineural hearing impairment, Hypogonadotropic hypogonadism, Hypoplas... ORPHA:432
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Cockayne Syndrome Type 1
Gait disturbance, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Macrotia, Hea... ORPHA:90321
Cri-Du-Chat Syndrome
Hypospadias, Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation... OMIM:123450
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Macrotia, Hyperactivity, Micropenis, Low frustration tolerance, Cryptorchidism, ... OMIM:300486
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Mend Syndrome
Abnormal auditory evoked potentials, Abnormal heart morphology, Aggressive behavior, Hyperactivit... ORPHA:401973
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Self-injurious behavior, Posteriorly rotate... ORPHA:447980
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Hyperactivity, Ataxia, EEG abnormality, B... ORPHA:98794
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... OMIM:610217
Infantile Krabbe Disease
Inappropriate crying, Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Irr... ORPHA:206436
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Depression, Bipolar aff... OMIM:601853
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Self-mutilation, Hearing impairment ORPHA:412035
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Hyp... ORPHA:73272
Stankiewicz-Isidor Syndrome
Hypospadias, Ventricular septal defect, Truncus arteriosus, Abnormality of the optic disc, Hearin... OMIM:617516
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Mend Syndrome
Hyperactivity, Cryptorchidism, Aortic valve stenosis OMIM:300960
Cardiac-Urogenital Syndrome
Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dysplastic tricusp... OMIM:618280
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Potocki-Lupski Syndrome
Hearing impairment, Hyperactivity, Atrial septal defect, EEG abnormality, Patent foramen ovale OMIM:610883
Cockayne Syndrome A
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Hepatomegaly, Abnormality o... OMIM:216400
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Overfolded helix, Microtia, Cupped ear OMIM:617466
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
19P13.12 Microdeletion Syndrome
Hypospadias, Conductive hearing impairment, Ventricular septal defect, Self-injurious behavior, S... ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Aggressive behavior, Hyperactivity, Emotional lability, Abnormally fol... OMIM:309520
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hyperactivity, At... OMIM:615673
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low ... ORPHA:363686
Angelman Syndrome
Optic atrophy, Precocious puberty in females, Optic disc pallor, Happy demeanor, Self-injurious b... ORPHA:72
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety OMIM:618430
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Rectovaginal fistula, Abnormal heart morpho... ORPHA:171929
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Sensorineural hearing impairment, Septate vagina, Pseudo... OMIM:146255
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Disability-Strabismus Syndrome
Hypospadias, Gait disturbance, Aggressive behavior, Macrotia, Hearing impairment, Hyperactivity, ... ORPHA:363528
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Micropenis, Low frustration toleran... OMIM:300534
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Cryptorchidism OMIM:614613
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Aggressive behavior, Hypogonadism, Hyperactivity, EEG abnormality, B... ORPHA:85293
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252930
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
7Q11.23 Microduplication Syndrome
Large earlobe, Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Ventricular septal defect, ... ORPHA:96121
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Bifid scrotum, Aggressive behavior, Posteriorly rotated ears, Hearing impairment, Le... OMIM:619148
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Angelman Syndrome
Paroxysmal bursts of laughter, Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-bas... OMIM:105830
Legius Syndrome
Dystonia, Ovarian neoplasm, Mitral valve prolapse, Vestibular Schwannoma, Male urethral meatus st... ORPHA:137605
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Abnormal heart morphology, Uterus didelphys, Vaginal atresia, Septate vagi... ORPHA:2237
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Tetra... ORPHA:3320
Choreoacanthocytosis
Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Ir... ORPHA:2388
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Protruding ear, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252940
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
Woodhouse-Sakati Syndrome
Dystonia, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Sensorineural hearing ... OMIM:241080
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Early Infantile Epileptic Encephalopathy
Dystonia, Ventricular septal defect, Self-injurious behavior, Hypsarrhythmia, EEG with burst supp... ORPHA:1934
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Hearing impairment,... OMIM:309801
Kennerknecht Syndrome
Agonadism, Abnormality of the pinna, Hypoplasia of the uterus OMIM:600908
Mucopolysaccharidosis Type 3
Gait disturbance, Conductive hearing impairment, Optic atrophy, Hepatomegaly, Abnormal mitral val... ORPHA:581
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hearing impairment, Hyperactivity, Inability to walk, Ataxia, Male h... ORPHA:139396
Seckel Syndrome 7
Hypoplasia of the uterus, Microtia OMIM:614851
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Splenomegaly, Hyperactivity, Irritability ORPHA:525731
Brain-Lung-Thyroid Syndrome
Hypospadias, Dystonia, Ventricular septal defect, Falls, Sensorineural hearing impairment, Hypera... ORPHA:209905
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Pulmoni... OMIM:601186
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Overfolded helix, Conspicuously happy dispositi... OMIM:610443
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia, Hyperactivity, Ataxia, Anxiety OMIM:300912
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Woodhouse-Sakati Syndrome
Dystonia, Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal sper... ORPHA:3464
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Abnormal heart morphology, Aggressive behavior, Posterior... ORPHA:468678
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Citrullinemia Type Ii
Hepatomegaly, Aggressive behavior, Hyperactivity, Irritability, Lethargy ORPHA:247585
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Macrotia, Hyperactivity, Cryptorchidism, Abnormality of the pinna OMIM:618505
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Hepatomegaly, Abnormal mitral valve morphology, Oto... ORPHA:580
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Seckel Syndrome 1
Hypospadias, Abnormality of the pinna, Clitoral hypertrophy, Hyperactivity, Cryptorchidism OMIM:210600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Abnormal fear/anxiety-related behavior, Conductive hearing impairment, Bicuspid aort... ORPHA:353281
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Argininemia
Hyperactivity, Spastic gait, Irritability, Hepatomegaly OMIM:207800
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Ventricular septal defect, Pericardial effusion, Sensorineural hea... OMIM:235510
Norrie Disease
Optic atrophy, Uterine rupture, Protruding ear, Self-injurious behavior, Macrotia, Sensorineural ... ORPHA:649
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Rubinstein-Taybi Syndrome 1
Hypospadias, Abnormal fear/anxiety-related behavior, Ventricular septal defect, Aganglionic megac... OMIM:180849
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Macrotia, Clitoral hypertrophy,... ORPHA:284339
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hyperactivit... ORPHA:2209
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Bicuspid aortic valve, Bifid scrotum, Torticollis, Hearing impairment, Micropenis, I... OMIM:619475
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Optic atrophy, Bradykinesia, Blepharospasm, Hyperactivity, Ataxia, Ak... OMIM:234200
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Hyperactivity, Atrial septal defect, Microtia ORPHA:261323
Townes-Brocks Syndrome 1
Stahl ear, Hypospadias, Urethral valve, Ventricular septal defect, Bifid scrotum, Bifid uterus, R... OMIM:107480
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Bilateral se... OMIM:614527
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Gait disturbance, Ventricular septal defect, Optic disc pallor, Macrotia, Hyperactiv... ORPHA:464306
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Smith-Lemli-Opitz Syndrome
Hypospadias, Ventricular septal defect, Aganglionic megacolon, Bifid scrotum, Aggressive behavior... OMIM:270400
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Ataxia ORPHA:760
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Coffin-Siris Syndrome
Hypospadias, Ventricular septal defect, Abnormal heart morphology, Aggressive behavior, Hearing i... ORPHA:1465
Joubert Syndrome 1
Optic disc pallor, Aggressive behavior, Self-mutilation, Optic disc coloboma, Hyperactivity, Ataxia OMIM:213300
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Distal Trisomy 17Q
Abnormal heart morphology, Low-set, posteriorly rotated ears, Hyperactivity, Bilateral sensorineu... ORPHA:3379
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Self-injurious behavior, Macrotia, Posteriorly rotated ears, Sensorineural hearing... OMIM:619512
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Bone Marrow Failure Syndrome 3
Hyperactivity, Cryptorchidism, Cupped ear, Hearing impairment OMIM:617052
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Posteriorly rotated ears, Pulmonic stenos... OMIM:607721
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Aplasia of the uterus, Hepatosplenomegaly, Atrial septal defect, Tetra... OMIM:274000
Phocomelia, Schinzel Type
Protruding ear, Hypoplasia of penis, Cryptorchidism, Aplasia of the uterus ORPHA:2879
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Bifid uterus, Abnormal mitral valve morph... ORPHA:2729
Hyperlysinemia
Dysmetria, Hyperactivity, Hypoplasia of the antihelix, Tip-toe gait, EEG with spike-wave complexe... ORPHA:2203
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Distal Monosomy 12Q
Unilateral cryptorchidism, Self-mutilation, Prominent ear helix, Bilateral conductive hearing imp... ORPHA:96149
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Ventricular septal defect, Aggressive behavior, Abnormality o... OMIM:135900
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hyperactivity, Irritability, Protruding ear ORPHA:447997
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Cupped ear, Protruding ear OMIM:300612
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Bicuspid aortic valve, Self-injurious behavior, Panic attack, Aortic valve stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Bicuspid aortic valve, Self-injurious behavior, Panic attack, Aortic valve stenosis,... ORPHA:353277
Blepharophimosis, Ptosis, And Epicanthus Inversus
Cupped ear, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, An... ORPHA:805
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Abnormal heart morphology, Bifid penis, Penoscrotal tr... ORPHA:322
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... ORPHA:642
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Witteveen-Kolk Syndrome
Hypospadias, Aggressive behavior, Conspicuously happy disposition, Macrotia, Hearing impairment, ... OMIM:613406
Wolf-Hirschhorn Syndrome
Hypospadias, Conductive hearing impairment, Aplasia of the uterus, Ventricular septal defect, Abn... OMIM:194190
Nijmegen Breakage Syndrome
Hyperactivity, Macrotia, Premature ovarian insufficiency OMIM:251260
Limb-Mammary Syndrome
Aplasia of the ovary, Protruding ear, Aplasia of the uterus ORPHA:69085
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Abnormal vagina morphology, Ventricular sept... OMIM:236680
Histidinemia
Hyperactivity ORPHA:2157
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Macrotia, Transposition of the great arteries, Cryptorch... OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine prolapse, Abse... OMIM:130050
Tetrasomy 9P
Oligospermia, Dextrocardia, Inappropriate behavior, Pericarditis, Abnormal earlobe morphology, Ab... ORPHA:3310
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Optic atrophy, Paroxysmal bursts of laughter, Posteriorly rotated ears, Sensorineura... OMIM:309580
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Peters Plus Syndrome
Hypospadias, Conductive hearing impairment, Optic atrophy, Low-set, posteriorly rotated ears, Bic... ORPHA:709
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Abnormality of the pinna, Long ear, Cryptorchidism, Anteriorl... OMIM:276820
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Microtia, second degree, Hypopl... OMIM:261540
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... ORPHA:572333
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Hypertrophic cardiomyopathy, Ventri... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Mitral valve prolapse, Uterine prolapse, Aplasia/Hypoplasia of the ... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Hirip3

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 Hirip3.

No publications found that use IMPC mice or data for Hirip3.

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MGI Allele Allele Type Produced
Hirip3tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Hirip3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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