Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger, DHHC domain containing 17
Synonyms:
A230053P19Rik,  Hip14,  D130071N24Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zdhhc17 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 Zdhhc17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Abnormality of neuronal migra... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Gray matter heterotopia, Hyperactivity, Hemiparesis, Polymicrogyria, Abnormality of n... OMIM:604317
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity ORPHA:356996
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria, Inability to walk OMIM:606053
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait OMIM:614063
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ataxia, Hyperactivity OMIM:613402
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Failure to thrive, Hyperactivity, Agenesis of corpus callosum, Tetraplegia OMIM:274270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Spastic tetraparesis, Simplified gyral... OMIM:619470
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity OMIM:617393
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Decreased body weight, Myoclonus, Hyperkinetic movements, St... ORPHA:561854
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait ataxia OMIM:609425
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity OMIM:615924
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity OMIM:239500
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... ORPHA:248111
Glycine Encephalopathy
Myoclonus, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia OMIM:619150
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Polymicrogyria, Chorea, Spasticity ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Failure to t... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Decreased body weight, Limb ataxia... OMIM:617695
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Inability to walk, Spasticity OMIM:617820
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Agenesis of corpus callosum, Spasticity OMIM:615286
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormali... ORPHA:382
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria OMIM:615282
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
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia OMIM:612716
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Hyperactivity, Small for gestational age, Stereotypical hand wringing, ... OMIM:614104
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Slender build, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral pals... OMIM:617600
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Hyperactivity, Tremor, Spasticity OMIM:618718
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Cerebral palsy, Attention... ORPHA:352490
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hypertonia, Failure to thrive, Hyperactivity, Tics, Unsteady gait OMIM:617865
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, L... ORPHA:3077
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Hyperactivity, D... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, ... ORPHA:500180
Optic Atrophy 11
Ataxia, Hyperkinetic movements, Dysmetria, Hyperactivity OMIM:617302
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation OMIM:619092
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Lennox-Gastaut Syndrome
Myoclonus, Hyperactivity, Falls ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics OMIM:619927
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Ataxia, Hyperactivity ORPHA:411515
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... ORPHA:363400
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Progressive spasticity, Gait ataxia DECIPHER:45
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, Abnormal neuron morphology, A... ORPHA:163681
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Landau-Kleffner Syndrome
Hyperactivity, Frequent falls, Speech apraxia, Gait ataxia, Attention deficit hyperactivity disor... ORPHA:98818
Shukla-Vernon Syndrome
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Truncal obesity OMIM:613192
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... OMIM:618342
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait OMIM:615516
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Myoclonus, Chorea, Unsteady gait, Upper limb spasti... ORPHA:485350
Myopathy With Extrapyramidal Signs
Perisylvian polymicrogyria, Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Di... OMIM:615673
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperkinetic movements, Hyperactivity OMIM:271980
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Clonus, Upper lim... OMIM:609727
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Babinski sign, Truncal ataxia, Attention... OMIM:619121
Christianson Syndrome
Motor stereotypy, Cachexia, Gait ataxia, Truncal ataxia ORPHA:85278
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait OMIM:618205
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hyperactivity, Polymicrogyria, Tremor, Gait ataxia, Simplified gyral pattern OMIM:300354
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity ORPHA:530983
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Bradykinesia, Lissencephaly, Attention deficit hyperactivity disorder, Pachygyria,... OMIM:619827
Radio-Tartaglia Syndrome
Motor stereotypy, Gait imbalance, Ataxia, Gray matter heterotopia, Tremor, Attention deficit hype... OMIM:619312
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Gait disturbance, Fasciculations, Upper motor neuron dysfunction, Abnormality o... ORPHA:275864
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Chorea, Lateral ventricle dilatation, Spasticity, Bilateral generalized polymic... ORPHA:178469
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder OMIM:617044
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity disorder OMIM:618825
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Hyperactivity, Myoclonus, Tong... ORPHA:98794
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Spasticity OMIM:610042
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Polymicrogyria, Partial agene... ORPHA:300570
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity OMIM:613886
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia OMIM:300624
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Simplified gyral pattern, Inability to walk OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy OMIM:619690
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Hyperactivity, Cachexia, Chorea, Athetosis ORPHA:52503
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Hyperactivity ORPHA:228402
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity, Overwe... ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Decreased body weight, Hyperactivity, Spasticity OMIM:300958
Brain-Lung-Thyroid Syndrome
Failure to thrive, Ataxia, Clumsiness, Hyperactivity, Intention tremor, Myoclonus, Chorea, Falls,... ORPHA:209905
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal poly... OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Failure to thrive, Recurrent hand flapping, Gait disturbanc... OMIM:300986
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hyperactivity, Hemiparesis, Gait disturbance, Somatic sensory dysfunctio... ORPHA:43
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Obesity ORPHA:10
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... OMIM:619580
Smith-Magenis Syndrome
Motor stereotypy, Increased body weight, Impaired pain sensation, Hyperactivity OMIM:182290
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Abnormal pyramidal sign, Hyperactivity, Tetraplegia ORPHA:369939
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Agenesis of corpus callosum, Small for gestational age OMIM:613174
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Agenesis of corpus callosum ORPHA:238750
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Myoclonus, Gait d... ORPHA:168491
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal pyramidal sign, Tremor, Attention deficit hyperactivity disorder,... ORPHA:1942
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Inability to walk, Pain insensitivity, Decreased body weight, Rigidity,... OMIM:300260
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait OMIM:617807
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Agenesis of corpus callosum OMIM:619435
Bilateral Generalized Polymicrogyria
Motor stereotypy, Lateral ventricle dilatation, Spasticity, Spastic tetraplegia, Paroxysmal dyski... ORPHA:208447
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Li... ORPHA:139396
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk ORPHA:411986
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Patent ductus arteriosus, Hyperactivity, Polymicrogyria OMIM:617751
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Opisthotonus, Spastic tetraplegia, Eyelid myoclonus OMIM:619913
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia, Failure to thrive ORPHA:927
Coffin-Siris Syndrome 6
Motor stereotypy, Tics, Attention deficit hyperactivity disorder OMIM:617808
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Gait disturbance, Speech aprax... OMIM:300352
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... ORPHA:261197
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Hyperactivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... OMIM:610217
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal cent... ORPHA:760
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Failure to thrive, Ataxia, Recurrent hand flapping, Hyperactivity, Stereotypica... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity OMIM:300486
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Difficulty walking OMIM:123450
Angelman Syndrome
Broad-based gait, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor, Obesity OMIM:105830
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Hyperactivity, Babinski sign, Abnormal pyramidal s... OMIM:234200
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Opisthotonus, Myoclonus, Gait ataxia, Spasticity OMIM:103050
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight OMIM:618347
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Failure to thrive, Babinski sign, Spasticity, Agenesis of corpus ca... OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Tremor, Patent ductus arteriosus, Attention deficit hyperac... OMIM:617061
Rett Syndrome, Congenital Variant
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Simplified gyral patt... OMIM:613454
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:313892
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Overweight, Hyperactivity, Small for gestational age OMIM:617796
Smith-Magenis Syndrome
Motor stereotypy, Gait disturbance, Attention deficit hyperactivity disorder, Obesity, Impaired p... ORPHA:819
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Head tremor OMIM:619428
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Agenesis of corpus callosum ORPHA:261144
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity ORPHA:391307
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Patent ductus arteriosus ORPHA:435638
Hyperlysinemia
Failure to thrive, Clumsiness, Hyperactivity, Opisthotonus, Dysmetria, Tip-toe gait, Spastic dipl... ORPHA:2203
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Stereotypical body rocking, Agenesis of corpus callosum, Tongue thrusting, Failure... ORPHA:261323
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Inability to walk, Decreased body weight, Myoclonus, Stereotypical hand... OMIM:619229
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Lateral ventricle dilatation, Ataxia, Unsteady gait ORPHA:457279
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Tremor, Gait ataxia, Attention deficit hyperactivity disorder ORPHA:476126
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity OMIM:618027
Cystinosis
Motor stereotypy, Failure to thrive, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder OMIM:619293
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Obesity, Hyperactivity OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Incoordination, Impaired pain sensation, Gait ataxia OMIM:616579
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Broad-based gait OMIM:616351
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder ORPHA:98784
White-Sutton Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Tics, Waddling gait, Patent ductus arteriosus... OMIM:616364
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder ORPHA:449291
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Patent ductus arteriosus, Polymicrogyria ORPHA:500159
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Periventricular heterotopia, Severe failure to thrive, Abnormal pyr... ORPHA:468631
Choreoacanthocytosis
Hypertonia, Loss of ambulation, Blepharospasm, Bradykinesia, Resting tremor, Hyperactivity, Impai... ORPHA:2388
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk OMIM:617802
Microcephaly 29, Primary, Autosomal Recessive
Simplified gyral pattern, Ataxia, Hyperactivity OMIM:620047
22Q11.2 Duplication Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1727
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Hand tremor, Small for gestational age ORPHA:424
Rauch-Steindl Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity OMIM:619695
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Phelan-Mcdermid Syndrome
Motor stereotypy, Broad-based gait, Tongue thrusting, Patent ductus arteriosus, Unsteady gait, Im... OMIM:606232
Transketolase Deficiency
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder ORPHA:488618
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
2Q37 Microdeletion Syndrome
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder ORPHA:1001
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... ORPHA:522077
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing ORPHA:319671
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Impaired pain sensation, Decreased body weight, Attention deficit hyperactivity... OMIM:619005
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Failure to thrive, Unsteady gait OMIM:212066
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Failure to thrive, Small for gestational age, Gait disturbance, Patent ductus a... ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hyperactivity, Partial agenesis of the corpus callosum, Agen... OMIM:619512
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
7Q11.23 Microduplication Syndrome
Motor stereotypy, Hyperactivity, Dysmetria, Patent ductus arteriosus, Unsteady gait, Simplified g... ORPHA:96121
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Failure to thrive, Inability to walk, Recurrent hand flapping OMIM:615485
Early Infantile Epileptic Encephalopathy
Failure to thrive, Hyperactivity, Myoclonus, Tremor, Choreoathetosis, Spasticity, Pachygyria, Epi... ORPHA:1934
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cerebral palsy OMIM:618914
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Broad-based gait, Hypertonia, Decreased body w... OMIM:619475
Kleefstra Syndrome
Motor stereotypy, Obesity, Agenesis of corpus callosum ORPHA:261494
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Lateral ventricle dilatation, Patent ductus arteriosus, Attention deficit hyper... ORPHA:177907
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Polymicrogyria, Choreoathetosis, Gait ataxia, Pachygyria OMIM:619777
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Inability to walk OMIM:300672
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy ORPHA:397612
White-Sutton Syndrome
Motor stereotypy, Incoordination, Obesity, Hyperactivity ORPHA:468678
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Limb hypertonia, Inability to walk, Spasticity ORPHA:457351
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait disturbance, ... ORPHA:464306
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... OMIM:614756
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Myoclonic spasms, Clonus, Lower limb spasticity ORPHA:447997
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Argininemia
Hyperactivity, Spastic paraparesis, Progressive spastic quadriplegia, Frequent falls, Spastic gait OMIM:207800
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Failure to thrive, Overweight, Attention deficit hyperactivity disorder OMIM:619575
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, R... ORPHA:513456
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Pain insensitivity, Dysmetria, Truncal ataxia, Speech... OMIM:617330
Kleefstra Syndrome 1
Motor stereotypy, Obesity OMIM:610253
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Wiedemann-Steiner Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity ORPHA:319182
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Patent ductus arteriosus, Unsteady gait OMIM:616682
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia OMIM:616393
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... OMIM:301030
1P36 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Gait disturbance, Patent ductus arte... ORPHA:1606
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis, Involuntary movements ORPHA:217253
Kinsship Syndrome
Spastic tetraparesis, Failure to thrive, Myoclonus, Motor stereotypy OMIM:619297
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Agenesis of corpus callosum ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Obesity, Difficulty walking OMIM:618653
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Obesity OMIM:301066
Arboleda-Tham Syndrome
Motor stereotypy, Patent ductus arteriosus, Gait imbalance, Lower limb hypertonia OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity, Abnormal l... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity, Abnormal l... ORPHA:353277
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Failure to thrive, Attention deficit hyperactivity disorder, Clonus ORPHA:534
Wolf-Hirschhorn Syndrome
Motor stereotypy, Failure to thrive, Agenesis of corpus callosum, Small for gestational age OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity ORPHA:353281
Mucopolysaccharidosis Type 2
Motor stereotypy, Hyperactivity ORPHA:580
Norrie Disease
Motor stereotypy, Hypertonia, Failure to thrive, Cachexia, Attention deficit hyperactivity disord... ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Broad-based gait, Periventricular heterotopia, Inability to walk, Failure to th... ORPHA:261537
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Patent ductus arteriosus OMIM:300855
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Broad-based gait, Periventricular heterotopia, Inability to walk, Failure to th... ORPHA:261552
Mowat-Wilson Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Periventricular heterotopia, Decre... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Exaggerated... OMIM:619522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Motor stereotypy OMIM:301044
Primrose Syndrome
Motor stereotypy, Ataxia, Truncal obesity, Tics, Attention deficit hyperactivity disorder OMIM:259050
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive OMIM:619325
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Failure to thrive OMIM:309000

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 Zdhhc17

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 Zdhhc17.

No publications found that use IMPC mice or data for Zdhhc17.

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MGI Allele Allele Type Produced
Zdhhc17tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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