Gene: Odf3l2 MGI:2686003

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Gene Summary

Name:
outer dense fiber of sperm tails 3-like 2
Synonyms:
LOC382384

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
impaired righting response Odf3l2tm1.1(KOMP)Vlcg HET   Early adult 1.68×10-06
head bobbing Odf3l2tm1.1(KOMP)Vlcg HET   Early adult 1.68×10-06
absent vibrissae Odf3l2tm1.1(KOMP)Vlcg HET Early adult 3.55×10-07
enlarged kidney Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal kidney morphology Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal auditory brainstem response Odf3l2tm1.1(KOMP)Vlcg HET   Early adult 0.000244
abnormal heart morphology Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal auditory brainstem response Odf3l2tm1.1(KOMP)Vlcg HOM   Early adult 7.30×10-06

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
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 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
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 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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 584)
aorta 0.17% (1 of 584)
blood 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%
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.

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Odf3l2 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 Odf3l2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Ethanolaminosis
Cardiomegaly OMIM:227150
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction, Abnormal motor evoked potentials, Ataxia, Somatic sensory ... ORPHA:320401
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Jerky head mov... ORPHA:251282
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Autism
EEG abnormality, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, EEG abnormality, Stereotypy OMIM:239500
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly... OMIM:615415
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Jerky head movements, Stereotypy, Involuntary movements ORPHA:98807
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Stereotypy, Hypsarrhythmia OMIM:617830
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Recurrent urinary tract infections, Spastic gait, Sens... ORPHA:99027
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... OMIM:125250
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Impaired t... ORPHA:206448
Ocular Motor Apraxia
Nephronophthisis, Jerky head movements, Oculomotor apraxia OMIM:257550
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, EEG abnormality, Stereotypy OMIM:619150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Baker-Gordon Syndrome
Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involuntary movements, Choreoathetosis OMIM:618218
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Orthostatic hypotension due to autonomic dysfunction, Hemiparesis, Ataxia, Abnormal auton... OMIM:105210
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Atrial septal defect, Low posterior hairline, Enlarged kidney, Focal segme... OMIM:617303
Attrv30M Amyloidosis
Abnormal renal physiology, Abnormal autonomic nervous system physiology, Nephropathy, Cardiomegal... ORPHA:85447
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary t... ORPHA:730
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Enlarged kidney, Overfolded helix, Posteriorly rotated ears, He... OMIM:608836
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... ORPHA:157941
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Neuraminidase Deficiency
Slurred speech, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly, Myoclonus, Dysmetri... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Sensorineural hearing impairment, Left ventricular hypertrophy, Cardiomegaly, Nephr... OMIM:617713
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Hearing impairment, Cardiomegaly, Tetraplegia, Clonus, Spasticity ORPHA:3137
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Spasticity OMIM:300886
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:157946
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Pain insensitivity, Membranoproliferative glomerulonephritis, Macroscopic hematu... ORPHA:251004
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, EEG abnormality OMIM:618760
Autosomal Recessive Non-Syndromic Intellectual Disability
Hypsarrhythmia, EEG with focal epileptiform discharges, Chorea, Spasticity, Multifocal epileptifo... ORPHA:88616
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly, Optic disc pallor, Spast... OMIM:619170
Charcot-Marie-Tooth Disease Type 1F
Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibratory sensation, Parest... ORPHA:101085
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair, Macrotia OMIM:613576
Refsum Disease, Classic
Abnormal renal physiology, Ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment,... OMIM:266500
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Abnormal pyramidal sign, Ankle clonus, Absent brainstem auditory responses, Sens... ORPHA:52368
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Clumsiness, Truncal ataxia, Dysesthesia, Limb ataxia, Ataxia, 3-Methylglutaconic aci... OMIM:619259
Tyrosinemia, Type I
Enlarged kidney, Renal Fanconi syndrome, Glomerular sclerosis, Elevated urinary delta-aminolevuli... OMIM:276700
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Spasticity OMIM:617393
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Enlarged kidney, Hepatomegaly, Renal dysplasia, Aortic valve stenosis, Uret... OMIM:208540
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Heparan sulfate excretion in ur... OMIM:252920
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Thick hair, Enlarged kidney, Abnormal heart morphology, Proteinuria, Urinar... ORPHA:505248
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Myoclonus,... OMIM:619092
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperkinetic movements, Hearing impair... ORPHA:391428
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Chorea, Hyperkinetic movements, Ataxia, Multifocal epile... OMIM:619317
Beckwith-Wiedemann Syndrome
Posterior helix pit, Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia,... OMIM:130650
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Hand apraxia, Tongue thrusting, EEG abnormalit... ORPHA:3095
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Atrial septal defect, Abnormal heart morphology, Hypertonia, Stereotypy, R... ORPHA:352490
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Sensorineural hearing impairment, Eye poking OMIM:204000
Chromosome 3Q29 Deletion Syndrome
Posteriorly rotated ears, Gait ataxia, Stereotypy, Macrotia OMIM:609425
Autism, Susceptibility To, 3
Ketonuria, EEG abnormality, Stereotypy OMIM:608049
Sandhoff Disease
Orthostatic hypotension, Impaired temperature sensation, Ataxia, Hepatomegaly, Urinary incontinen... OMIM:268800
Mental Retardation, Autosomal Recessive 39
Synophrys, Stereotypy, Macrotia OMIM:615541
Infantile Sialic Acid Storage Disease
Fair hair, Hepatomegaly, Splenomegaly, Cardiomegaly, Nephrotic syndrome OMIM:269920
H Syndrome
Abnormal eyebrow morphology, Enlarged kidney, Hearing impairment, Hypertrichosis, Alopecia, Hepat... ORPHA:168569
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Abnormality of the pinna, Hyperechogenic kidneys, Hypospadias, Mic... OMIM:612651
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis, Stereotypy, Macrotia OMIM:618504
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis, Stereotypy, Speech apraxia OMIM:613670
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Increased level of ri... ORPHA:488618
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormal heart morphology, Morphological abnormality of the middle ear... OMIM:182290
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Stereotypy, Ventricular septal defect OMIM:617044
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, EEG abnormality, Stereotypy, Spasticity OMIM:618718
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hearing impairment, Hypoplastic left heart, Hydrone... ORPHA:1727
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pericardial effusion, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Macrotia, Ventricular septal defect, Abnormal r... ORPHA:500095
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Chore... ORPHA:382
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Spastic tetraplegia, Head titubation ORPHA:3240
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232200
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Speech apraxia, Conductive hearing impairment, Abnormal heart morphology, P... ORPHA:261197
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Congenital Toxoplasmosis
Hepatomegaly, Hearing impairment, Cardiomegaly ORPHA:858
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Macrotia, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent hand flappi... ORPHA:544254
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Urinary incontinence, Stereotypy, Spasticity OMIM:300912
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Interictal EEG abnormality, Abnormal heart morphology, Poor motor coordination, Poor ... ORPHA:79264
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232220
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Pericarditis, Enlarged kidney, Abnormal ure... ORPHA:449395
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Hypsarrhythmia, Long eyelashes, Synophrys, Multifocal epileptiform dischar... ORPHA:411986
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity OMIM:618917
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, EEG with continuous slow activity, Stereotypy, Uppe... ORPHA:275864
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Abnormality of the pinna, Enlarged kidney OMIM:200995
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Long eyelashes, Synophrys OMIM:619064
Fragile X Syndrome
Abnormal head movements, Mitral valve prolapse, Macrotia OMIM:300624
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with temporal epileptiform dischar... ORPHA:363558
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, White eyebrow, Long-segment aganglioni... OMIM:609136
Foxg1 Syndrome
Hyperkinetic movements, Myoclonus, Stereotypy, Stereotypical hand wringing, Choreoathetosis, Spas... ORPHA:561854
Pontocerebellar Hypoplasia, Type 11
Macrotia, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Spasticity OMIM:617695
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Sensorineural hearing impairment, Cardiomegaly, ... OMIM:618652
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Abnormal heart morphology, Ventricular septal defect, Congenital sensorine... ORPHA:500159
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Xq28 (MECP2) duplication
Gait ataxia, Macrotia, Functional abnormality of the bladder, Stereotypy, Progressive spasticity DECIPHER:45
Beckwith-Wiedemann Syndrome
Otosclerosis, Posterior helix pit, Multiple renal cysts, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Low-set, posteriorly rotated ears, Unilateral renal agenesis, Synophry... ORPHA:3306
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction OMIM:253250
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spasticity ORPHA:280763
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Spastic dipl... ORPHA:206436
Fucosidosis
Mucopolysacchariduria, Abnormal pyramidal sign, Hepatomegaly, Hearing impairment, Spastic tetrapl... ORPHA:349
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Ataxia, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impai... OMIM:619260
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria ORPHA:42
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Hyperkinetic movements, Stereotypy, Micropenis ORPHA:457240
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macrotia, Overfolded helix, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Sp... ORPHA:324410
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Microtia, Enlarged kidney ORPHA:276280
Cantu Syndrome
Congenital, generalized hypertrichosis, Pericardial effusion, Long eyelashes, Congenital hypertro... OMIM:239850
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with phot... ORPHA:168491
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Truncal ataxia, Secundum atrial septal defect, Spastic gait, Spastic tetra... OMIM:619121
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Cardiomegaly OMIM:618838
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Hypertonia, Cupped ear, Pulmonic stenosis, Stereotypy, Patent foramen ovale, Ce... OMIM:618914
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Facial hypertrichosis, Hepatomegaly, Hypercalciuri... ORPHA:508
Christianson Syndrome
Gait ataxia, Truncal ataxia, Macrotia, Thick eyebrow, Stereotypy ORPHA:85278
Cerebrotendinous Xanthomatosis
Spastic paraparesis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Paraparesis... ORPHA:909
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Potocki-Lupski Syndrome
Abnormal renal morphology, Atrial septal defect, Hearing impairment, EEG abnormality, Stereotypy,... OMIM:610883
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
4Q21 Microdeletion Syndrome
Tremor, Long eyelashes, Synophrys, Hearing impairment, Stereotypy, Generalized hirsutism ORPHA:238750
Cockayne Syndrome Type 1
Tremor, Macrotia, Ataxia, Hepatomegaly, Lower limb spasticity, Hearing impairment, Absent brainst... ORPHA:90321
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Abnormality of the pinna, Sensorineural hearing impairment, Stereotypy, Hy... OMIM:617751
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Chorea, Right ventricular hypertrophy, Cardiomegaly, Brachial plexus neuropathy ORPHA:268
Trisomy 10P
Low voltage EEG, Multiple renal cysts, Macrotia, Poor motor coordination, Abnormal heart morpholo... ORPHA:171929
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, Urinary incontinence, Stereotypy, Involuntary movements, EEG wi... ORPHA:98784
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Posteriorly rotated ears, Hydronephrosis, Cardiomegaly, Hypospadias, L... OMIM:616897
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Alopecia, Splenomegaly, Cardiomyopathy OMIM:235200
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Cardiomegaly OMIM:255120
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Ataxia, Synophrys, Stereotypy, Hypoplasia of penis, Generalized hirsutism ORPHA:228402
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Abnormality of the pinna, Ataxia, Stereotypy, Stereo... OMIM:614104
Coffin-Siris Syndrome 6
Atrial septal defect, Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Ste... OMIM:617808
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with series of focal spikes, Atrial septal defect, Horizontal ... ORPHA:522077
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Perineal hypospadias, Lower limb spasticity, Muscular ventricular septal d... ORPHA:66634
Cockayne Syndrome A
Tremor, Dry hair, Sparse hair, Abnormality of the pinna, Ataxia, Hepatomegaly, Abnormal auditory ... OMIM:216400
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529799
Cockayne Syndrome B
Tremor, Dry hair, Sparse hair, Abnormal hair morphology, Abnormality of the pinna, Ataxia, Hepato... OMIM:133540
Kohlschutter-Tonz Syndrome-Like
Tremor, Hypsarrhythmia, Upper limb spasticity, Ventricular septal defect, Widow's peak, Recurrent... OMIM:619229
Radio-Tartaglia Syndrome
Low anterior hairline, Tremor, Highly arched eyebrow, Ventricular septal defect, Conductive heari... OMIM:619312
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Myoglobinuria, Hepato... ORPHA:228308
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Enlarged kidney, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis,... OMIM:312870
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr... ORPHA:79259
Fucosidosis
Oligosacchariduria, Hepatomegaly, Thick eyebrow, Hearing impairment, Spastic tetraplegia, Cardiom... OMIM:230000
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Sparse lateral e... OMIM:619103
Mucopolysaccharidosis Type 3
Hypertonia, Hirsutism, Coarse hair, Sensorineural hearing impairment, Cardiomegaly, Abnormal myoc... ORPHA:581
Ogden Syndrome
Macrotia, Ventricular septal defect, Hypertonia, Torticollis, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:276432
Macrocephaly-Developmental Delay Syndrome
Hepatosplenomegaly, EEG with generalized slow activity, Stereotypy ORPHA:397612
Hydroxykynureninuria
Renal tubular acidosis, Hypertonia, Congenital sensorineural hearing impairment, Stereotypy ORPHA:79155
Beck-Fahrner Syndrome
Protruding ear, EEG abnormality, Cardiomegaly, Ventricular septal defect OMIM:618798
Pitt-Hopkins-Like Syndrome 1
Stereotypy, EEG abnormality, Ataxia, Spasticity OMIM:610042
Childhood Absence Epilepsy
Punding, Urinary incontinence, Jerky head movements, EEG with spike-wave complexes (2.5-3.5 Hz), ... ORPHA:64280
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic c... OMIM:201475
Glycogen Storage Disease Ii
Diaphragmatic paralysis, Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly OMIM:232300
Kleefstra Syndrome
Highly arched eyebrow, Thickened helices, Ventricular septal defect, Synophrys, Hypospadias, Hear... ORPHA:261494
Alazami Syndrome
Stereotypical hand wringing, Atrial septal defect, Sparse eyebrow, Stereotypy ORPHA:319671
Lamb-Shaffer Syndrome
Stereotypy, Optic atrophy, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Pick Disease Of Brain
Stereotypy OMIM:172700
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Phelan-Mcdermid Syndrome
Macrotia, Ventricular septal defect, Long eyelashes, Hearing impairment, Protruding ear, Thick ey... OMIM:606232
Blepharophimosis-Impaired Intellectual Development Syndrome
Low anterior hairline, Highly arched eyebrow, Sparse eyebrow, Recurrent urinary tract infections,... OMIM:619293
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypopigmentation of hair, Ataxia, EEG abnormality, Tongue thrusting, Myoclonus, Recurrent... ORPHA:98794
Kleefstra Syndrome 1
Abnormal renal morphology, Abnormality of the pinna, Synophrys, Hearing impairment, Stereotypy, H... OMIM:610253
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Naxos Disease
Dilated cardiomyopathy, Curly hair, Abnormal morphology of right ventricular trabeculae, Sparse a... OMIM:601214
Mental Retardation, Autosomal Dominant 34
Curly hair, Coarse hair, Synophrys, Hearing impairment, Stereotypy OMIM:616351
5Q14.3 Microdeletion Syndrome
Thick eyebrow, Optic nerve hypoplasia, Stereotypy ORPHA:228384
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Abnormality of the pinna, Stereotypy, Optic atrophy, Spasticity OMIM:617807
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, EEG with frontal sharp slow waves, Highly arched eyebrow, Atrial septal de... ORPHA:457351
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Paraplegia, Ataxia, Hepatomegaly ORPHA:927
48,Xxyy Syndrome
Stereotypy, Tremor, Ataxia, Hypoplasia of penis ORPHA:10
Hypertrichotic Osteochondrodysplasia, Cantu Type
Generalized hirsutism, Low anterior hairline, Abnormal heart valve morphology, Long eyelashes, Th... ORPHA:1517
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Microtia OMIM:613320
Snijders Blok-Campeau Syndrome
Stereotypy, Speech apraxia OMIM:618205
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Torticollis, Cardiomegaly, Ventricular septal defect OMIM:617022
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Lethal Acantholytic Erosive Disorder
Absent eyelashes, Absent eyebrow, Absent hair, Abnormality of the helix, Congenital alopecia tota... ORPHA:158687
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Sickle Cell Anemia
Hematuria, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Thickened helices, EEG with burst suppression, Ataxia, Posteriorly rotated... OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Macrotia, Chorea, Pain insensitivity, Ataxia, Lower limb spasticity, Stereotypy, Hypospadias, Pro... OMIM:300260
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Spasticity ORPHA:208447
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Sparse eyebrow, Macrotia, Hirsutism, Ataxia, Urinary incontinence, Stereotypy... ORPHA:496641
Childhood Disintegrative Disorder
Urinary incontinence, Stereotypy ORPHA:168782
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Ataxia, EEG abnormality, Tongue thrusting, Recurrent hand flapping ORPHA:411511
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
EEG with spike-wave complexes, Atrial septal defect, Abnormal heart morphology, Restrictive cardi... ORPHA:369837
Shukla-Vernon Syndrome
Sparse hair, Stereotypy OMIM:301029
Cri-Du-Chat Syndrome
Premature graying of hair, Hypertonia, Abnormality of the pinna, Hearing impairment, Stereotypy, ... OMIM:123450
Autosomal Dominant Non-Syndromic Intellectual Disability
Chorea, Eyelid myoclonus, Stereotypy, Spasticity ORPHA:178469
Cystinosis
Abnormal pyramidal sign, Aminoaciduria, Nephropathy, Stereotypy, Renal insufficiency, Renal tubul... ORPHA:213
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Ataxia, Stereotypy, B... ORPHA:457279
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Ataxia, Pulmonic stenosis, Sensorineural hearing... ORPHA:435638
Smith-Magenis Syndrome
Conductive hearing impairment, Synophrys, Abnormality of the ureter, Abnormal localization of kid... ORPHA:819
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Opisthotonus, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia OMIM:608013
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, High anterior hairline, Stereotypy, Abnormal heart morphology OMIM:615873
Rett Syndrome, Congenital Variant
Apraxia, Chorea, Protruding ear, EEG abnormality, Tongue thrusting, Stereotypy, Athetosis, Spasti... OMIM:613454
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Alopecia of scalp, Hearing impairm... OMIM:602782
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response, Tongue th... OMIM:608643
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Low anterior hairline, Highly arched eyebrow, Macrotia, Secundum atrial sept... OMIM:615802
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hepatomegaly, Hearing impairment, Left ventricular hypertrophy, Cardiomegaly,... ORPHA:308552
Rett Syndrome
Limb apraxia, Abnormal autonomic nervous system physiology, Bradykinesia, EEG abnormality, Stereo... ORPHA:778
Niemann-Pick Disease, Type C2
Ataxia, Hepatomegaly, Stereotypy, Splenomegaly, Cataplexy, Spasticity OMIM:607625
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Conductive hearing impairment, Multicystic kidney dysplasia, Sparse scalp ... ORPHA:1001
Abetalipoproteinemia
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Ataxia, Hepatomegaly, Cardiomeg... ORPHA:14
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Macrotia, Ventricular septal defect, Hypertonia, Hirsutism, Long eyelashes, Posterio... OMIM:212066
7Q11.23 Microduplication Syndrome
Atrial septal defect, Large earlobe, Horizontal eyebrow, Overfolded helix, Ventricular septal def... ORPHA:96121
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Hypospadias, Renal agenesis, Ventricular septal defect, Horseshoe kidney, Ren... ORPHA:508498
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Abnormal autonomic nervous system physiolog... ORPHA:300570
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Complete atrioventricular canal defect, Synophrys, Urinary incontinence, Ste... ORPHA:476126
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Highly arched eyebrow, Stereotypy OMIM:618825
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, EEG abnormality, Protruding ear, Stereotypy ORPHA:2479
Mend Syndrome
Limb hypertonia, Abnormal auditory evoked potentials, Aortic valve stenosis, Abnormal heart morph... ORPHA:401973
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Thick eyebrow, Stereotypy, Speech apraxia ORPHA:529965
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Synophrys, Stereotypy, Macrotia ORPHA:391307
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Aicardi-Goutières Syndrome
Tremor, Extrapyramidal muscular rigidity, Spastic paraparesis, Abnormality of extrapyramidal moto... ORPHA:51
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Sparse hair, Stereotypy OMIM:613174
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Stereotypy ORPHA:313892
White-Sutton Syndrome
Incoordination, Abnormal heart morphology, Duplicated collecting system, Posteriorly rotated ears... ORPHA:468678
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Macrotia, Hirsutism, Synophrys, Cardiomegaly, Low posterior hairline ORPHA:2463
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Mitral valve prolapse, Recurrent hand flapping, Stereotypy, Macrotia ORPHA:449291
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Macrotia, Ventricular septal defect, Unilateral renal agenesis, Aortic valve s... ORPHA:464306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Prominent antitragus, Thick eyebrow, Cardiomegaly, Left ventricular hypertr... OMIM:245600
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Lower limb hypertonia, Synophrys, Hypertrichosis, Cardiomegaly... ORPHA:97297
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Long eyelashes, Hepatomegaly, EEG abnormality, Stereotypy, Impaired pain s... OMIM:619005
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hypertonia, Synophrys, Urinary incontinence, Lower limb spasticity, Protruding ea... ORPHA:447997
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Unilateral renal agenesis, Aortic valve stenosis, Protruding ear, Rena... ORPHA:464311
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Overfolded helix, Vesicoureteral reflux, Hydronephrosis, Stereotypy, Pelvi... OMIM:618653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Abnormal renal collecting system morphology, Bilateral sensorineural hearing impair... ORPHA:468631
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Tremor, Atrial septal defect, Speech apraxia, Ventricular septal defect, Ataxia, Right ventricula... OMIM:300967
Mucopolysaccharidosis Type 2
Otosclerosis, Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal heart ... ORPHA:580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tetraplegia, Cardiomegaly, Hepatomegaly OMIM:618278
Williams Syndrome
Abnormality of extrapyramidal motor function, Abnormal endocardium morphology, Recurrent urinary ... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Tinnitus, Cardiomegaly ORPHA:79280
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Gait ataxia, Truncal ataxia, Horizontal eyebrow, Speech apraxia, Overfolded helix,... OMIM:617330
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Protruding ear, Stereotypy ORPHA:261144
Histiocytoid Cardiomyopathy
Hemiplegia, Ventricular septal defect, Hepatomegaly, Renal cyst, Cardiomegaly, Optic atrophy ORPHA:137675
Ogden Syndrome
Atrial septal defect, Macrotia, Ventricular septal defect, Hypertonia, Long eyelashes, Sparse and... OMIM:300855
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Myoclonus, Stereotypy, Hypsarrhythmia OMIM:300672
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Sparse and thin eyebrow, Cardiomegaly, Splenomegaly, Hypertr... OMIM:252500
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Underfolded superior helices, Spas... OMIM:300352
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Dilated cardiomyopathy, Hypoplasia of penis, Horizontal eyebrow, Con... ORPHA:1606
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Hypertonia, Hepatomegaly, Opisthotonus, Stereotypy, Mitral valve prolapse ORPHA:508533
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Abnormal heart morphology, Conductive hearing impairment, Ventricular septa... ORPHA:353281
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hepatomegaly, Hearing impairment, Left ventricular hypertrophy, Cardiomegaly,... ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Abnormality of earlobe, Ventricular septal defect ORPHA:96191
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Renal insufficiency, Multiple renal cysts, Hematuria, Low-set, ... ORPHA:534
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Coffin-Siris Syndrome 12
Prominent antihelix, Highly arched eyebrow, Low anterior hairline, Simple ear, Horseshoe kidney, ... OMIM:619325
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Spastic tetraparesis, Synophrys, Hypertrichosis, Myoclonus, S... OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ven... ORPHA:438213
Wiedemann-Steiner Syndrome
Dilatation of renal calices, Congenital, generalized hypertrichosis, Long eyelashes, Synophrys, T... ORPHA:319182
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Stapes ankylosis, Conductive hearing impairment, Peri... ORPHA:51608
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Ventricular septal defect, Sparse lateral eyebrow, Stereotypy, Abnormality of the Eu... ORPHA:513456
Yunis-Varon Syndrome
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Renovascular hypertension, Spars... ORPHA:3472
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Abnormal heart morphology, Stereotypy, Patent foramen ovale, Abnormalit... ORPHA:177907
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Arboleda-Tham Syndrome
Prominent antihelix, Small earlobe, Highly arched eyebrow, Atrial septal defect, Ventricular sept... OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Stereotypy, Ventricular septal defect OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Atrial septal defect, Abnormal heart morphology, Conductive hearing impair... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Atrial septal defect, Abnormal heart morphology, Conductive hearing impair... ORPHA:353277
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Low anterior hairline, Highly arched eyebrow, Atrial septal defect, Hypsarrhythmia, Overfolded he... OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low posterior hairline, Poor coordination, Spastic diplegia, Posteriorly rotated ears, Cupped ear... OMIM:309590
Mowat-Wilson Syndrome
Chordee, Broad eyebrow, Sensorineural hearing impairment, Vesicoureteral reflux, Pelvic kidney, W... ORPHA:2152
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Macrotia, Sparse axillary hair, Hepatomegaly, Hypertrichosis, Cardiome... OMIM:256040
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Poor fine motor coordination, Broad eyebrow, Sensorineural hearing impairment, Vesicoure... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Poor fine motor coordination, Broad eyebrow, Sensorineural hearing impairment, Vesicoure... ORPHA:261552
Rubinstein-Taybi Syndrome 1
Highly arched eyebrow, Low anterior hairline, Atrial septal defect, Abnormality of the kidney, Ve... OMIM:180849
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Conductive hearing impair... OMIM:194190
Singleton-Merten Syndrome 1
Mitral valve calcification, High anterior hairline, Aortic valve stenosis, Cardiomegaly, Aortic v... OMIM:182250
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Stereotypy, Re... OMIM:309000
Norrie Disease
Macrotia, Hypertonia, Sensorineural hearing impairment, Abnormality of the helix, EEG abnormality... ORPHA:649

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 Odf3l2

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 Odf3l2.

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

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Odf3l2tm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Odf3l2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Odf3l2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Odf3l2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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