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
head bobbing Odf3l2tm1.1(KOMP)Vlcg HET   Early adult 1.70×10-06
impaired righting response Odf3l2tm1.1(KOMP)Vlcg HET   Early adult 1.70×10-06
abnormal auditory brainstem response Odf3l2tm1.1(KOMP)Vlcg HOM   Early adult 6.04×10-06
enlarged heart Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00
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 2.22×10-06
abnormal heart morphology Odf3l2tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.0% (0 of 2)
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 0.0% (0 of 2)
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 50% (1 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Ataxia, Abnormal motor e... ORPHA:320401
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, ... OMIM:615415
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Ataxia, EEG abnormality, Hyperglycinuria, Motor stereotypy OMIM:239500
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... OMIM:619150
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia OMIM:617830
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Involuntary movements, Spasticity, Dystonia OMIM:617820
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Adult Krabbe Disease
Hemiplegia, Ataxia, Acroparesthesia, EEG abnormality, Clumsiness, Hoffmann sign, Babinski sign, T... ORPHA:206448
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomyopa... ORPHA:85447
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Mucopolysaccharidosis-Plus Syndrome
Hirsutism, Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Low a... OMIM:617303
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, EEG abnormality, Dystonia, Chorea OMIM:618760
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements, Nephronophthisis OMIM:257550
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Acroparesthesia, Upper motor ... ORPHA:206443
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dy... OMIM:105210
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Progressive extrapyramidal movement... ORPHA:382
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptifo... ORPHA:88616
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of extrapyramidal motor ... ORPHA:157946
Huntington Disease-Like 1
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Simultanaprax... ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Spastic tetraplegia, Cardiomegaly, Macrotia OMIM:300886
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Neuraminidase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Dysmetria, Splenomegaly, Urinary excretion of sia... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... OMIM:617713
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Hepatomegaly, Overfolded helix, Ureteral duplication, Enlarged ... OMIM:608836
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Macroscopic hematuria, Myoclonus, Membranoproliferative glomerulonephritis, E... ORPHA:251004
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Optic disc pallor, Spasticity, Perimembranous ventricular septal defect, Cardiom... OMIM:619170
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Tetraplegia, Spasticity, Clonus, Hearing impairment, Cardiomegaly ORPHA:3137
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Absent brainstem auditory responses, Sensorineural hearing impairment, D... ORPHA:101085
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly, Macrotia OMIM:613576
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Tongue fascic... OMIM:601596
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... OMIM:306955
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Refsum Disease, Classic
Sensorineural hearing impairment, Ataxia, Abnormal renal physiology, Somatic sensory dysfunction,... OMIM:266500
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Motor stereotypy, Spastic tetraparesis OMIM:619470
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Nephrotic syndrome, Continuous spike and waves during slow sleep, Hypos... OMIM:619428
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Clumsiness, Limb ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Gait ataxia, 3-Met... OMIM:619259
Episodic Ataxia Type 4
Frequent falls, Incoordination, Ataxia, Abnormal head movements ORPHA:79136
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Mucopolysaccharidosis, Type Iiib
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulfate excretion in urine, Synophrys... OMIM:252920
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Alg9-Cdg
Torticollis, Large fleshy ears, Hypertrichosis, Ureteral hypoplasia, Atrial septal defect, Hepato... ORPHA:79328
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Poor coordination, Spastic diplegia, Abnorm... ORPHA:391428
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Enlarged kidney, Situs i... OMIM:208540
Diaphanospondylodysostosis
Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Nephroblastomatosis, Low-set ears OMIM:608022
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrichosis, Nephrotic syndrome, Atrial septal defect, Hepatosplenomegaly, Heparan sulfate exc... ORPHA:505248
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Dystonia, Urinary incontinence OMIM:600795
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia,... OMIM:130650
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Atrial septal defect, Cerebral palsy, Spasticity, Repetitive compul... ORPHA:352490
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Thin eyebrow, Low anterior hairline, Motor stereotypy OMIM:619690
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Sandhoff Disease
Ataxia, Upper motor neuron dysfunction, Hepatomegaly, Exaggerated startle response, Orthostatic h... OMIM:268800
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Fair hair, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears OMIM:618718
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Micropenis, Scimitar anomaly, Tetralogy of Fallot, ... OMIM:618280
Endocrine-Cerebroosteodysplasia
Abnormal pinna morphology, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Low-... OMIM:612651
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity, Dystonia OMIM:618917
H Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Micropenis, Alopecia, Abnormality of the kidney, Hep... ORPHA:168569
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Enuresis OMIM:613670
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Periodic paralysis, Elevated urinary delta-aminolevulinic acid, Enlar... OMIM:276700
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Autism, Susceptibility To, 3
Motor stereotypy, Ketonuria, EEG abnormality OMIM:608049
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, ... ORPHA:255249
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia, Head titubation ORPHA:3240
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Sensorineural hearing impairment, Protruding ear, Multicystic kidney dysplasia, Nephroblastoma, A... ORPHA:500095
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Patent foramen... OMIM:618652
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Atrial septal ... ORPHA:261197
Transketolase Deficiency
Motor stereotypy, Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventric... ORPHA:488618
Congenital Toxoplasmosis
Hearing impairment, Hepatomegaly, Cardiomegaly ORPHA:858
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrotia, Motor stereotypy, Micropenis OMIM:618504
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Abnormality of the urinary system, Abnormal renal morphology, ... OMIM:182290
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... OMIM:232200
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Pericardial effusion ORPHA:464329
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... OMIM:232220
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... ORPHA:247815
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
22Q11.2 Duplication Syndrome
Motor stereotypy, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethra... ORPHA:1727
Fragile X Syndrome
Mitral valve prolapse, Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity, ... ORPHA:280763
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Low-set ears OMIM:200995
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... ORPHA:561854
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Atrial septal d... ORPHA:79330
Ogden Syndrome
Torticollis, Hypertonia, Global glomerulosclerosis, Protruding ear, Secundum atrial septal defect... OMIM:300855
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Low anterior hairline, Thick eyebrow, Myocl... ORPHA:411986
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Paroxysmal dystonia, Motor stereotypy, Increased theta frequency activity ... ORPHA:98784
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Synophrys, Abnormal au... OMIM:619260
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Hepatomegaly, Synophrys, Cardiomegaly OMIM:619064
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Igg4-Related Kidney Disease
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... ORPHA:449395
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Optic... ORPHA:79264
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Ataxia, Hypoplasia of the semicircular canal, S... OMIM:609136
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Sparse hair, Sparse eyebrow, Splenomegaly, Brittle hair, Enlarged kidney, Mucopolys... OMIM:252500
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Motor stereotypy, Atrial septal defect, Patent foramen ovale OMIM:617044
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hepatomegaly, Tremor, Low-set... OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Synophrys, Macrotia OMIM:615541
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, EEG with continuous slow activity, Fasciculations, Upper motor neuron dysfuncti... ORPHA:275864
Xq28 (MECP2) duplication
Motor stereotypy, Functional abnormality of the bladder, Progressive spasticity, Gait ataxia, Mac... DECIPHER:45
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Cardiomegaly, Pericardial constriction OMIM:253250
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Motor stereotypy, Secundum atrial septal defect, Dysmetria, Babinski sign, Trunc... OMIM:619121
Fucosidosis
Hepatomegaly, Abnormal pyramidal sign, Spasticity, Mucopolysacchariduria, Spastic tetraplegia, He... ORPHA:349
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Otosclerosis, Hepatomegaly, Congenital megaureter, Splenome... ORPHA:116
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Hepatomegaly, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly ORPHA:42
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Overfolded helix, Mitral valve prolapse, Spastic tetraplegia, Macrotia, Ab... ORPHA:324410
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Unilateral renal agenesis, Low-set, posteriorly rotated ears, Tetralogy of Fall... ORPHA:3306
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Pulmonic stenosis, Cerebral palsy, Myoclonus, Chorea OMIM:617600
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Cerebrotendinous Xanthomatosis
Paraparesis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conducti... ORPHA:909
Potocki-Lupski Syndrome
Motor stereotypy, EEG abnormality, Atrial septal defect, Abnormal renal morphology, Patent forame... OMIM:610883
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... OMIM:239850
Hemihyperplasia-Multiple Lipomatosis Syndrome
Microtia, Nephroblastoma, Enlarged kidney ORPHA:276280
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Pulmonic stenosis, Cupped ear, Cerebral palsy, Renal hypoplasia, Pa... OMIM:618914
Leprechaunism
Protruding ear, Hypertrichosis, Hepatomegaly, Facial hypertrichosis, Hypercalciuria, Long penis, ... ORPHA:508
Christianson Syndrome
Motor stereotypy, Thick eyebrow, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Micropenis, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Cardiomegaly OMIM:618838
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Bicuspid aortic valve, Hypospadias, Ventricul... OMIM:617751
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... ORPHA:168491
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Hepatomegaly, Optic atrophy, Tremor, Renal insuffici... ORPHA:90321
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Low-set ea... OMIM:616897
Trisomy 10P
EEG with focal spikes, Abnormality of the kidney, Multiple renal cysts, Low voltage EEG, EEG with... ORPHA:171929
Fucosidosis
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Thick eyebrow, Splenomegaly, Spastic tetrapleg... OMIM:230000
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Chorea, Brachial plexus neuropathy, Pollakisuria, Cardiomegaly ORPHA:268
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Hepatomegaly, Splenomegaly OMIM:615637
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... ORPHA:731
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Atrial septal defect, EEG with spike-wave complexes, E... ORPHA:522077
4Q21 Microdeletion Syndrome
Motor stereotypy, Generalized hirsutism, Tremor, Hearing impairment, Long eyelashes, Synophrys, L... ORPHA:238750
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Splenomegaly, Cardiomyopathy, Cardiomegaly OMIM:235200
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Incoo... OMIM:614104
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Generalized hirsutism, Ataxia, Hypoplasia of penis, Synophrys, Highly arched ey... ORPHA:228402
Ogden Syndrome
Torticollis, Hypertonia, Aplasia/Hypoplasia of the eyebrow, Ventricular septal defect, Fine hair,... ORPHA:276432
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Coffin-Siris Syndrome 7
Sparse scalp hair, Low-set ears, Bicuspid aortic valve, Motor stereotypy, Thick eyebrow, Ventricu... OMIM:618027
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Atrial septal defect, Low-set, posteriorly rotat... OMIM:617808
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Motor stereotypy, Proteinuria OMIM:618347
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Hepatomegaly, Tubulointerstitial fibrosis, Enlarged kidney, Proteinuria, Nephroc... ORPHA:79259
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Dysplastic pulmonary valve, Hypospadias, Recurrent urinary tract infections, Ve... OMIM:619103
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Spastic ataxia OMIM:618906
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Hypertrichosis, Hepatomegaly, Short nail, Enlarged kidney, Ventricular septa... OMIM:312870
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Hypertrichosis, Atrial septal defect, Aortic valve stenosis, Low anterior ... ORPHA:363705
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, EEG abnormality, Cardiomegaly OMIM:618798
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, EEG with frontal sharp slow ... ORPHA:457351
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Radio-Tartaglia Syndrome
Large earlobe, Conductive hearing impairment, Ataxia, Hirsutism, Thick eyebrow, Low anterior hair... OMIM:619312
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity, Dystonia OMIM:617807
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ataxia, Hepatomegaly, Coarse hair, Heparan sulfate excretion in... ORPHA:581
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, EEG abnormality, Thick eyebrow, EEG with focal spike waves, Upper limb ... OMIM:619229
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Hypospadias, Rigidity, Chorea, Progressive spastici... OMIM:300260
Snijders Blok-Campeau Syndrome
Motor stereotypy, Low-set ears, Speech apraxia OMIM:618205
Cockayne Syndrome B
Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Hepatomegaly, Decreased nerv... OMIM:133540
Joubert Syndrome 6
Motor stereotypy, Ataxia, Nephronophthisis, Oculomotor apraxia, Stage 5 chronic kidney disease OMIM:610688
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Hirsutism, Atrial septal defect, Thick eyebrow, Low anterio... OMIM:617061
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic cardiomyopathy,... OMIM:201475
Alazami Syndrome
Motor stereotypy, Atrial septal defect, Sparse eyebrow, Stereotypical hand wringing, Low-set ears ORPHA:319671
Childhood Absence Epilepsy
Jerky head movements, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Urinar... ORPHA:64280
Cockayne Syndrome A
Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Hepatomegaly, Decreased nerv... OMIM:216400
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Spasticity OMIM:610042
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Abnormal autonomic nervous system physiology, St... ORPHA:778
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Atrial septal defect, Recurrent hand flapping, Mitral valve... OMIM:300986
Bilateral Generalized Polymicrogyria
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Spasticity, Spastic tetraplegia, Paroxysma... ORPHA:208447
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Cardiomegaly, Microtia OMIM:613320
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Motor stereotypy, Low anterior hairline, Thick eyebrow, Sparse eyebrow, Sparse... OMIM:619293
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment, Renal tubular acidosis ORPHA:79155
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Abnormal helix morphology, Absent hair, Congenital alopecia totalis, A... ORPHA:158687
Kleefstra Syndrome
Motor stereotypy, Bicuspid aortic valve, Hypoplasia of penis, Supernumerary nipple, Micropenis, H... ORPHA:261494
Naxos Disease
Woolly hair, Right ventricular cardiomyopathy, Sparse eyebrow, Abnormal morphology of right ventr... OMIM:601214
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Hepatosplenomegaly, EEG with generalized slow activity ORPHA:397612
Cantú Syndrome
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Curly eyelashes, Long eyelashes, Abn... ORPHA:1517
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Coarse hair, Synophrys, Hearing impairment, Curly hair OMIM:616351
Lamb-Shaffer Syndrome
Optic atrophy, Upper motor neuron dysfunction, Ataxia, Motor stereotypy ORPHA:530983
Kleefstra Syndrome 1
Motor stereotypy, Abnormal pinna morphology, Micropenis, Hypospadias, Abnormal renal morphology, ... OMIM:610253
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Hirsutism, Cataplexy, Sparse eyebrow, Optic atrophy, Progressive spasti... ORPHA:496641
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Micropenis, Chorea, Athetosis, Macrotia, Curly hair OMIM:619435
Phelan-Mcdermid Syndrome
Motor stereotypy, Protruding ear, Thick eyebrow, Abnormality of the kidney, Tongue thrusting, Ven... OMIM:606232
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Developmental And Epileptic Encephalopathy 95
Ataxia, Hepatomegaly, Highly arched eyebrow, EEG with burst suppression, Hearing impairment, Post... OMIM:618143
Rett Syndrome, Congenital Variant
Motor stereotypy, Protruding ear, EEG abnormality, Chorea, Athetosis, Tongue thrusting, Spasticit... OMIM:613454
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Vent... ORPHA:457279
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia, Hepatomegaly ORPHA:927
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Hypoplasia of penis ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Highly arched eyebrow OMIM:618825
Rauch-Steindl Syndrome
Motor stereotypy, Protruding ear, Hepatomegaly, Attached earlobe, Bilateral renal hypoplasia, Hyp... OMIM:619695
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, EEG with spike-wave complexes, Congenital megaureter, Restrictive cardiomyo... ORPHA:369837
Shukla-Vernon Syndrome
Motor stereotypy, Sparse hair OMIM:301029
Cystinosis
Renal tubular dysfunction, Motor stereotypy, Aminoaciduria, Abnormal pyramidal sign, Nephropathy,... ORPHA:213
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Premature graying of hair, Hypospadias, ... OMIM:123450
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Chorea, Spasticity, Dystonia ORPHA:178469
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Low anterior hairline, Secundum atrial septal defect, Pulmonic sten... OMIM:615802
Sickle Cell Anemia
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly OMIM:603903
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Renal hypoplasia/aplasia, Abnor... ORPHA:819
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Steroid-dependent nephrotic syndrome, Stereoty... OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Supernumerary nipple, Gait ataxia, Impaired pain sensation, Incoordination, Low... OMIM:616579
Childhood Disintegrative Disorder
Motor stereotypy, Urinary incontinence ORPHA:168782
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Opisthotonus, Microtia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Cardiomegaly OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Atrial septal defect, Hepatomegaly, Micropenis, Pulmonic stenos... OMIM:602782
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... ORPHA:308552
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Atrial septal defect, Pulmonic stenos... ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Micropenis, Gait ataxia, Spasticity, Macrotia, Microphallus OMIM:300486
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Bilateral conductive hearing impairment, Long eyelashes, Low-set ears, Interict... OMIM:617802
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Diaphragmatic paralysis, Hearing impairment, Cardiomegaly, Urinary in... OMIM:232300
Craniofaciofrontodigital Syndrome
Low-set ears, Cardiomegaly, Abnormal heart morphology OMIM:114620
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, High anterior hairline, Low-set, posteriorly rotated ears, Abnormal heart morph... OMIM:615873
Aicardi-Goutières Syndrome
Hypertonia, Hemiplegia/hemiparesis, Extrapyramidal muscular rigidity, Micropenis, Spastic parapar... ORPHA:51
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Abetalipoproteinemia
Ataxia, Hepatomegaly, Dysmetria, Impaired vibratory sensation, Positive Romberg sign, Babinski si... ORPHA:14
Mend Syndrome
Aortic valve stenosis, Limb hypertonia, Abnormal auditory evoked potentials, Low-set ears, Abnorm... ORPHA:401973
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Motor stereotypy, Microtia, Micropenis, Hypospadias, Renal agen... OMIM:301040
2Q37 Microdeletion Syndrome
Sparse scalp hair, Conductive hearing impairment, Motor stereotypy, Supernumerary nipple, Sparse ... ORPHA:1001
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears, Sparse hair, Low posterior hairline OMIM:613174
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Hypertonia, Hirsutism, Motor stereotypy, Thick eyebrow, Sparse ... OMIM:212066
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Sensorineural hearing impairment, Motor stereotypy, Spastic ataxia, Abnormal autonom... ORPHA:300570
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, Atrial septal defect, Sparse hair, Optic nerv... OMIM:616364
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly ORPHA:465508
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiomegaly OMIM:614921
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Bicuspid aortic valve, Hypertrichosis, Atrioventricular canal defect, Renal age... ORPHA:508498
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Complete atrioventricular canal defect, Gait ataxia, Synophrys, Urinary... ORPHA:476126
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Hepatomegaly, Splenomegaly, Spasticity, Dystonia OMIM:607625
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis OMIM:208000
7Q11.23 Microduplication Syndrome
Large earlobe, Motor stereotypy, Aortic valve stenosis, Atrial septal defect, Dysmetria, Unilater... ORPHA:96121
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Prominent antitragus, Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Microtia, Left ... OMIM:245600
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia, Thick eyebrow ORPHA:529965
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Tetraplegia, Hepatosplenomegaly, Myoclonus, Ventricular hypertrophy, Dystonia, Card... OMIM:618278
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, EEG abnormality, Protruding ear ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Motor stereotypy, Low anterior hairline, Asymmetry of the ears,... OMIM:617796
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Underfolded superior helices, Speech apraxia, Spasticity, Dystonia,... OMIM:300352
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Synophrys, Macrotia, Cardiomegaly, Low posterior hairline ORPHA:2463
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy ORPHA:313892
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Synophrys, Macrotia ORPHA:391307
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Protruding ear, Myoclonic spasms, Synophrys, Hypsarrhythmia, Clonus... ORPHA:447997
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, Optic atrophy, Duplicated co... ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ataxia, Atrial septal defect, Right ventricular hy... OMIM:300967
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Supernumerary nipple, Micropenis, Overfolded helix, Highly arched eyebrow, Pate... OMIM:618653
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Hypertrichosis, Nephroblastoma, Low-set, posteriorly rotated ... ORPHA:97297
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Protruding ear, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, H... ORPHA:464306
Pitt-Hopkins Syndrome
Motor stereotypy, Supernumerary nipple, Micropenis, Sparse medial eyebrow, Cupped ear, Frontal up... OMIM:610954
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Mitral valve prolapse, Recurrent hand flapping, Macrotia ORPHA:449291
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Abnormal autonomic nervous system physiology, Orthostatic hypoten... ORPHA:217253
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Protruding ear, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, H... ORPHA:464311
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Pain insensitivity, Thick eyebrow, Dysmetria, Micropenis, Overfolded he... OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Hepatomegaly, Micropenis, Long eyelashes, Impaired pain sensat... OMIM:619005
Williams Syndrome
Abnormal cardiac septum morphology, Ataxia, Ventricular septal defect, Tremor, Proteinuria, Spast... ORPHA:904
Histiocytoid Cardiomyopathy
Hemiplegia, Hepatomegaly, Optic atrophy, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Thin ear helix, Unilateral renal agenesis, Hypospadias, Optic nerve... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Hematuria, Ventricular septal defect, Tics, Spasticity, Hypsarrhythmia,... OMIM:619475
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Hirsutism, Thick eyebrow, Sparse hair, Supernumerary nipple, Recurr... OMIM:615485
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Abnormal mitral va... ORPHA:580
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
1P36 Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal cardiac septum morpholo... ORPHA:1606
Kinsship Syndrome
Motor stereotypy, Hypertrichosis, Myoclonus, Renal hypoplasia, Horseshoe kidney, Synophrys, Spast... OMIM:619297
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Chordee, Atrial septal defect, Exaggerated startle response, Microtia, Renal ag... OMIM:619522
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Hepatomegaly, Opisthotonus, Mitral valve prolapse, Horseshoe kidney ORPHA:508533
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, Hirsutism, EEG abnormality, Atrial septal defect, Low anterior hair... OMIM:301044
Arboleda-Tham Syndrome
Prominent antitragus, Motor stereotypy, Secundum atrial septal defect, Atrial septal defect, Pulm... OMIM:616268
Liver Disease, Severe Congenital
Atrial septal defect, Aminoaciduria, Hepatomegaly, Splenomegaly, Poor fine motor coordination, Hy... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Hepatomegaly, EEG with parietal focal spikes, Hepatosplenomegaly, Synophrys, EE... OMIM:301066
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Low anterior hairline, Atrial septal defect, ... OMIM:619512
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ata... OMIM:619777
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Renal tubular acidosis, Ventricular septal de... OMIM:619575
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... ORPHA:365
Wiedemann-Steiner Syndrome
Motor stereotypy, Generalized hirsutism, Thick eyebrow, Congenital, generalized hypertrichosis, D... ORPHA:319182
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Pulmonary valve atresia, Protruding ear, Atrial septal defect, Microtia, Unilat... OMIM:301030
Coffin-Siris Syndrome 12
Long eyelashes, Horseshoe kidney, Large earlobe, Thick eyebrow, Tetralogy of Fallot, Simple ear, ... OMIM:619325
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Nephrolithiasis, Sensorineural hearing impairment, Conductive hearing impairment, EEG abnormality... ORPHA:353281
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly, Abnormal earlobe morphology ORPHA:96191
Yunis-Varon Syndrome
Sparse scalp hair, Abnormal pinna morphology, Atrial septal defect, Sparse eyebrow, Micropenis, S... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Medullary neph... ORPHA:51608
Oculocerebrorenal Syndrome Of Lowe
Nephrolithiasis, Sparse scalp hair, Protruding ear, EEG abnormality, Motor stereotypy, Oligosacch... ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Abnormality of the kidney, Hypopigmentation of hair, Patent foramen ovale, Abno... ORPHA:177907
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morphology, Ventricular se... ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Motor stereotypy, Sparse hair OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Recurrent urinary tract in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Recurrent urinary tract in... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Low-set ears, Protruding ear, Micropenis, Poor coordination, Hypospadias, Cuppe... OMIM:309590
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Hepatomegaly, Splenomegaly, Sparse axillary hair, Macrotia, Premature graying of ... OMIM:256040
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Ataxia, Horizontal eyebrow, Spasticity, Abnormal heart morpho... ORPHA:2152
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Protruding ear, Poor gross motor coordination, Hand tremor, Dysmetria, ... OMIM:614756
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Low-set ears, Ataxia OMIM:616393
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Abnormal heart morphology, Chordee, Renal duplication, Tetralogy of Fallot, Impaired ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Ventricular septal defect, Spasticity, Duplication of renal pelvis, Abnormal heart... ORPHA:261552
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, EEG a... OMIM:194190
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbo... OMIM:309000
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Norrie Disease
Sensorineural hearing impairment, Hypertonia, Protruding ear, EEG abnormality, Abnormal helix mor... ORPHA:649
Primrose Syndrome
Sparse scalp hair, Motor stereotypy, Ataxia, Calcification of the auricular cartilage, Absent fac... OMIM:259050

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Odf3l2tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Odf3l2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Odf3l2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Odf3l2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter