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,  D130071N24Rik,  Hip14

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
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetra... OMIM:604317
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic tetraplegia, Babi... OMIM:616657
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasi... OMIM:618709
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Stereotypy OMIM:606053
Mental Retardation, Autosomal Dominant 33
Microcephaly, Decreased body weight, Hyperactivity OMIM:616311
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... OMIM:613402
N-Acetylaspartate Deficiency
Truncal ataxia, Decreased body weight, Unsteady gait, Stereotypy, Microcephaly OMIM:614063
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Stereotypy, Progres... OMIM:617862
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Stereotypy, Failure to thrive, Microcephaly, Spasticity OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Weight loss, Ne... ORPHA:248111
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hypera... OMIM:618090
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, ... ORPHA:88616
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Failure to thrive, Hyperactivity, Tetraplegia, Microcepha... OMIM:274270
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Spasticity ORPHA:356996
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Spastic diplegia, Stereotypy OMIM:617830
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Polymicrogyria, Cortical d... OMIM:615282
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Stereotypy, Failure to thrive, Hyperactivity, Microcephaly OMIM:609425
Insulin-Like Growth Factor I Deficiency
Microcephaly, Decreased body weight, Hyperactivity OMIM:608747
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy, Microcephaly OMIM:619150
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spas... OMIM:300983
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Difficulty walking, Hypoplasia of the c... ORPHA:561854
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Chorea, Stereotypical hand wringing OMIM:618760
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Abnormal periventricular white matter morphology, Difficulty walking, Hypop... ORPHA:280763
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Glycine Encephalopathy
Myoclonus, Lethargy, Agenesis of corpus callosum, Hyperactivity OMIM:605899
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 8
Hyperactivity OMIM:615401
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Hypoplasia of the corpus callosum, Poor coord... OMIM:617695
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Failure to thrive, Stereotypical hand wringin... ORPHA:500545
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Hypoplasi... ORPHA:500180
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... OMIM:612716
Mental Retardation, Autosomal Recessive 39
Microcephaly, Stereotypy, Hyperactivity OMIM:615541
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Stereotypy, Stereotypical han... OMIM:618917
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... OMIM:600795
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Optic Atrophy 11
Hyperkinetic movements, Ataxia, Dysmetria, Leukoencephalopathy, Hyperactivity, Microcephaly OMIM:617302
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Gait disturbance,... ORPHA:3095
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Hypoplastic hippocampus, Chorea, Hyperkinetic movements, Ataxia, Myo... OMIM:619317
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disorde... OMIM:613670
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Mental Retardation, Autosomal Dominant 7
Incoordination, Gait disturbance, Ataxia, Failure to thrive in infancy, Cerebral cortical atrophy... OMIM:614104
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimuation test, Failure to thrive, Hyperactivity, Microceph... OMIM:615286
Mental Retardation, Autosomal Recessive 58
Spastic diplegia, Choreoathetosis, Stereotypy OMIM:617270
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Abnormal cerebral white matter morphology, Gait dis... ORPHA:275864
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Small for gestational age, Stereotypy, Hyperactivity, Microcephaly, Repetitive compul... ORPHA:352490
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Microcephaly, Spasticity OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy, Micro... OMIM:619092
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortic... ORPHA:85278
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Ataxia, Failure to thrive, Stereotypy, Hyperactivity, Microcephaly, Spast... OMIM:300912
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Microcephaly, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Xq28 (MECP2) duplication
Progressive spasticity, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Stereo... DECIPHER:45
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Failure to thrive, Hyperactivity, Progressive microcephaly, Broa... OMIM:617865
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Hyperactivity OMIM:616977
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Cerebral cortica... ORPHA:369939
Ck Syndrome
Slender build, Pachygyria, Polymicrogyria, Hyperactivity, Microcephaly, Abnormal cerebral cortex ... ORPHA:251383
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Pitt-Hopkins-Like Syndrome 1
Ataxia, Cortical dysplasia, Focal cortical dysplasia, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpholo... ORPHA:485350
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Mental Retardation, Autosomal Recessive 61
Hypoplasia of the corpus callosum, Babinski sign, Hyperactivity, Secondary microcephaly, Spasticity OMIM:617773
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Cortical dysplasia, Hyperactivity, Microcephaly, Broad-based g... ORPHA:457260
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Obesity, Cessation of head growth, Hyperactivity, Broad-based gait ORPHA:411515
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral whit... OMIM:300354
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Spasticity, Spastic ataxia, Hypop... ORPHA:300570
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Progressive microcephaly ORPHA:397933
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Hyperactivity OMIM:300979
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Decreased body weight, Hyperactivity OMIM:618342
Ck Syndrome
Slender build, Pachygyria, Polymicrogyria, Hyperactivity, Microcephaly OMIM:300831
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shu... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity OMIM:300434
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsiness, Po... ORPHA:79264
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Hemiparesis, Subcortical cerebral atrophy, Abnormality of the ba... ORPHA:1929
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Hyperactivity, Chorea, Hypert... OMIM:610217
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, ... ORPHA:457240
Lamb-Shaffer Syndrome
Ataxia, Stereotypy, Hyperactivity, Microcephaly, Upper motor neuron dysfunction ORPHA:530983
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Hypoplasia of the corpus callosum, Spastic gait, Spastic tetraplegia, Dysmetria, ... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Decreased body weight, Hyperactivity, Microcephaly, Broad-base... OMIM:300958
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hyperactivity, Hypoplasia of the corpus callosum, Ataxia, Cessation of head growth, Recur... ORPHA:98794
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, Pr... ORPHA:778
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Truncal obesity, Secondary microcephaly, Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Recurrent hand flapping, Spasticity OMIM:618859
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Microcephaly, Spasticity OMIM:617807
Sotos Syndrome 3
Hyperactivity OMIM:617169
Alazami-Yuan Syndrome
Microcephaly, Hyperactivity OMIM:617126
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Stereotypy, Hyperac... ORPHA:391307
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Hypertonia, Primary microcephaly, Small for gestational age, M... ORPHA:289266
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Stereotypy, Failure to thrive, Microcephaly, Paraplegia ORPHA:927
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Gait disturbance, Cerebral atroph... ORPHA:168491
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Stereotypy, Babinski sign, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Impaired pain sensation ORPHA:505652
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Mental Retardation, Autosomal Dominant 40
Microcephaly, Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Polymicrogyria, Stereotypy, Microcephaly, Dilation of lateral ... OMIM:617751
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus callosum, Myoclonus, Ster... ORPHA:411986
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Patent ductus arteriosus, Stereotypy OMIM:617044
Phenylketonuria
Microcephaly, Cerebral calcification, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral atrophy, Dilation of la... ORPHA:77299
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Small for gestational age, Stereotypy, Failure to thrive, Hype... OMIM:610883
2Q23.1 Microdeletion Syndrome
Stereotypy, Microcephaly, Ataxia, Hyperactivity ORPHA:228402
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Diff... ORPHA:139396
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Hypoplasia of the corpus callosum, Gait disturbance, Stereotypy, Failure to thrive, Poo... OMIM:300352
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Angelman Syndrome Due To A Point Mutation
Ataxia, Tongue thrusting, Cessation of head growth, Recurrent hand flapping, Secondary microcepha... ORPHA:411511
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, El... ORPHA:209905
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Periventricular leukomalacia, Stereotypy OMIM:617808
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Pachygyria, Hypoplasia of the corpus callosum, Chorea, Tongue thrusting, Stere... OMIM:613454
X-Linked Intellectual Disability, Cantagrel Type
Stereotypy, Hypoplasia of the corpus callosum, Tetraparesis, Cerebral cortical atrophy ORPHA:85277
Landau-Kleffner Syndrome
Gait ataxia, Speech apraxia, Slurred speech, Hyperactivity, Steppage gait, Frequent falls, Attent... ORPHA:98818
Radio-Tartaglia Syndrome
Tremor, Gray matter heterotopia, Gait imbalance, Ataxia, Stereotypy, Microcephaly, Agenesis of co... OMIM:619312
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, B... OMIM:609727
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Microcephaly, Attention de... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Hyperactivity OMIM:300558
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Hyperactivity OMIM:271980
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Dysplastic corpus callosum, Stereotypy, Microcephaly, Attention deficit hyp... OMIM:619103
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Obesity, Hyperphagia, And Developmental Delay
Stereotypy, Obesity OMIM:613886
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Eyelid apraxia, Tremor, Dystonia, Rigidity, Motor ti... OMIM:234200
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Recurrent hand flapping OMIM:618916
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Cerebral atrophy, Opisthotonus, Myoclonus, Hyperactivity, Microce... OMIM:103050
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Spastic tetraparesis, Dysplastic corpus callosum, ... OMIM:619179
4Q21 Microdeletion Syndrome
Tremor, Agenesis of corpus callosum, Stereotypy ORPHA:238750
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Cerebral cortical atrophy, Limb tremor, Hyperactivity, Secon... OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Inability to walk, Pain insensitivity, Chorea, Decreased body weight, Ata... OMIM:300260
48,Xxyy Syndrome
Tremor, Ataxia, Stereotypy, Attention deficit hyperactivity disorder, Obesity ORPHA:10
Smith-Magenis Syndrome
Hyperactivity, Increased body weight, Stereotypy, Impaired pain sensation OMIM:182290
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Stereotypy, Hyperactivity ORPHA:3306
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... ORPHA:43
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Overweight, Upper limb spasticity, Spasticity, Ataxia, Decreased body ... OMIM:619229
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Patent ductus arteriosus, Atax... ORPHA:435638
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Agenesis of corpus callosum, Stereotypy OMIM:613174
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Stereotypy, Broad-based gait OMIM:616351
5Q14.3 Microdeletion Syndrome
Stereotypy, Hypoplasia of the corpus callosum, Frontal cortical atrophy ORPHA:228384
Niemann-Pick Disease, Type C2
Dystonia, Neurofibrillary tangles, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Failure to thrive, Hyperactivity OMIM:619239
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Repetitive compulsive behavio... ORPHA:401777
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Limb hypertonia, Torticollis, Exaggerated startle response,... OMIM:608643
Helsmoortel-Van Der Aa Syndrome
Obesity, Hyperactivity, Stereotypy, Decreased response to growth hormone stimuation test OMIM:615873
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Failure to thrive, Choreoathetosis, ... ORPHA:261197
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Small for gestational age, Stereotypy, Hyperactivity, Microcephaly OMIM:123450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Small for gestational age, Failure to thrive, Hyperactivity, Microcephaly, Atten... ORPHA:73272
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Hyperactiv... ORPHA:457485
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical at... ORPHA:496641
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Cerebral cortical atrophy, Progressive inability to wal... ORPHA:2388
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Failure to thrive in infancy, Stereo... ORPHA:819
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin corpus callosum, Attention deficit hyperactivity disorder, Patent ductus arteriosus, Stereotypy OMIM:619293
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Cerebral dysmyelination, Cerebral cortical atrophy, Tongue thr... ORPHA:72
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Primary microcephaly, Stereotypy, Failure to thrive, Secondary microcephaly,... ORPHA:476126
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Patent ductu... ORPHA:500159
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Cessation of head growth, Secondary microcephaly, Gait imbalance, Broad-based gait ORPHA:98795
Bainbridge-Ropers Syndrome
Inability to walk, Abnormal cerebral white matter morphology, Hypertonia, Recurrent hand flapping... ORPHA:352577
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Repetitiv... OMIM:607485
Pyruvate Carboxylase Deficiency
Basal ganglia gliosis, Tremor, Agenesis of corpus callosum, Cerebral white matter atrophy, Dyston... ORPHA:3008
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Hypertonia, Ataxia, Decreased response to growth hormone stimuation test OMIM:601853
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Patent ductus arteriosus, Microcephaly, Tip-toe gait, Attention defic... ORPHA:293939
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Periventricular heterotopia, Hypopl... ORPHA:468631
22Q11.2 Duplication Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Stereotypy ORPHA:1727
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skelet... ORPHA:166108
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum, Stereotypy ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Failure to thrive, Stereotypy, B... OMIM:615802
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Dilated Cardiomyopathy With Ataxia
Dystonia, Bilateral basal ganglia lesions, Ataxia, Action tremor, Lower limb spasticity, Repetiti... ORPHA:66634
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Stereotypy, Cerebral palsy, Dilation of lateral ve... OMIM:618914
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Episodic ataxia, Tremor, Pachygyria, Dystonia, Hypoplasia of ... ORPHA:1934
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia OMIM:300624
Pick Disease Of Brain
Stereotypy OMIM:172700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Primary microcep... ORPHA:457351
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Ataxia, Obesity, Hyperactivity, Spasticity OMIM:618430
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:98784
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Patent ductus arteriosus, Spasticity, Failur... ORPHA:363528
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Hyperactivity OMIM:618089
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity OMIM:275000
Phelan-Mcdermid Syndrome
Abnormal periventricular white matter morphology, Patent ductus arteriosus, Unsteady gait, Tongue... OMIM:606232
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Tongue thrusting, Hyperactivity, Microcephaly, Agenesis of corpus c... ORPHA:261323
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hypoplasia of the corpus callosum, Hypertonia, Primary microcephaly, Lower limb spasticit... ORPHA:447997
X-Linked Intellectual Disability, Cabezas Type
Tremor, Cachexia, Hyperactivity, Microcephaly, Broad-based gait, Obesity ORPHA:85293
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Lower limb spasticity, Abnormal cerebral white matter morphology, Hyperactivity ORPHA:363686
13Q12.3 Microdeletion Syndrome
Obesity, Hyperactivity, Failure to thrive, Impaired pain sensation ORPHA:412035
Cystinosis
Stereotypy, Gait disturbance, Abnormal pyramidal sign, Failure to thrive ORPHA:213
Mend Syndrome
Hypertonia, Hyperactivity OMIM:300960
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Microcephaly, Ataxia ORPHA:2479
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... ORPHA:522077
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Obesity OMIM:600430
2Q37 Microdeletion Syndrome
Microcephaly, Attention deficit hyperactivity disorder, Stereotypy, Obesity ORPHA:1001
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Spastic diplegia, Poor coordination, Small for gestational age, Hyperactivity, ... OMIM:300612
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Failure to thrive, Hyperactivity, Microcephaly ORPHA:525731
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Recurrent hand flapping, Stereotypy, Hyperactivity ORPHA:449291
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Gait disturbance, Patent ductus arteriosus, Abnormality of neu... ORPHA:464311
Citrullinemia Type Ii
Decreased body mass index, Tremor, Lethargy, Hyperactivity, Cerebral edema ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Microcephaly, Stereotypy OMIM:618825
White-Sutton Syndrome
Incoordination, Hypoplasia of the corpus callosum, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:468678
Congenital Disorder Of Glycosylation, Type Iia
Hypertonia, Unsteady gait, Stereotypy, Failure to thrive, Microcephaly OMIM:212066
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Cerebral cortical atrophy, Unsteady gait, Hippocampal atrophy, D... OMIM:614756
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Small for gestational age, Hyperactivity, Microcephaly, Broad-based gait OMIM:609625
Developmental And Epileptic Encephalopathy 2
Inability to walk, Progressive microcephaly, Myoclonus, Stereotypy OMIM:300672
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Failure to thrive, Hyperactivity, Mi... ORPHA:239
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Pachygyria, Hypoplasia of the corpus callosum, Failure to thrive, Stereotypy, Microc... ORPHA:513456
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity ORPHA:85327
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Anencephaly, Small for gestational age, Hyperactivity, Microcephaly, Ag... OMIM:619148
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity OMIM:300486
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Patent ductus arteriosus, Anterior pituitary... ORPHA:464306
Transketolase Deficiency
Attention deficit hyperactivity disorder, Patent ductus arteriosus, Stereotypy ORPHA:488618
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Ataxia, Hyperactivity ORPHA:369891
19P13.3 Microduplication Syndrome
Microcephaly, Cerebral atrophy, Hyperactivity ORPHA:447980
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Failure to thrive, Decreased response to... ORPHA:485405
Joubert Syndrome 1
Oculomotor apraxia, Ataxia, Hemifacial spasm, Hyperactivity, Microcephaly OMIM:213300
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Stereotypy, Failure to thrive, Hyperactivity, Microcephaly, ... ORPHA:319182
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Unsteady gait, Stereotypy, Dysmetria, Hyperactivity, Simplified gyral p... ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum, Hyperactivity OMIM:309520
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the corpus callosum, Microcephaly, Obesity ORPHA:254346
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Unsteady gait, Patent ductus arteriosus, Stereotypy OMIM:616682
Seckel Syndrome 1
Hyperactivity, Microcephaly, Pachygyria, Large basal ganglia OMIM:210600
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Anterior pituitary hypoplasia, Obesity, Cerebral cortical atrophy, Ster... ORPHA:177907
Childhood Absence Epilepsy
Punding, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Stankiewicz-Isidor Syndrome
Pineal cyst, Patent ductus arteriosus, Hyperactivity OMIM:617516
Kleefstra Syndrome
Cerebral cortical atrophy, Stereotypy, Microcephaly, Agenesis of corpus callosum, Obesity ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Stereotypy, Attention deficit hyperactivity disorder, Decreased body weight, Impaired pain sensation OMIM:619005
16P11.2P12.2 Microdeletion Syndrome
Tics, Hyperactivity, Impaired pain sensation ORPHA:261211
Glass Syndrome
Microcephaly, Broad-based gait, Hyperactivity OMIM:612313
47,Xyy Syndrome
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Pain insensitivity, Ataxia, Dysmetria, Stereotypy, M... OMIM:617330
Kleefstra Syndrome 1
Microcephaly, Stereotypy, Obesity OMIM:610253
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hypoplasia of the corpus callosum, Hemiparesis, Abnormality of the pineal gland, Failure to thriv... ORPHA:369950
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Hallermann-Streiff Syndrome
Microcephaly, Choreoathetosis, Small for gestational age, Hyperactivity OMIM:234100
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Koolen-De Vries Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Small for g... OMIM:610443
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hypoplasia of the corpus callosum, Stereotypy, Microcephaly, Obesity OMIM:618653
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Hypertonia, Opisthotonus, Stereotypy, Micro... ORPHA:508533
Bone Marrow Failure Syndrome 3
Microcephaly, Failure to thrive, Hyperactivity OMIM:617052
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypoplasia of the corpus callosum, Cerebral atrophy, Spastic diplegia, Poor coordination, Small f... OMIM:309590
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Speech apraxia OMIM:618505
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Hyperactivity, Frequent falls OMIM:207800
Ogden Syndrome
Microcephaly, Hypertonia, Cerebral atrophy, Stereotypy OMIM:300855
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypoplasia of the corpus callosum, Failure to thrive, Hyperactivity, Large for gestational age, A... OMIM:607721
Mend Syndrome
Hypoplasia of the corpus callosum, Limb hypertonia, Failure to thrive, Hyperactivity ORPHA:401973
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Vocal cord paresis, Hypertonia, Abnormal pyramidal sign... ORPHA:581
Coffin-Siris Syndrome
Patent ductus arteriosus, Hyperactivity, Microcephaly, Simplified gyral pattern, Agenesis of corp... ORPHA:1465
1P36 Deletion Syndrome
Gait disturbance, Patent ductus arteriosus, Hemiplegia/hemiparesis, Cerebral cortical atrophy, Fa... ORPHA:1606
Distal Monosomy 12Q
Patent ductus arteriosus, Failure to thrive in infancy, Obesity, Impaired pain sensation, Hyperac... ORPHA:96149
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hyperactivity ORPHA:457284
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity OMIM:256800
Norrie Disease
Clonus, Hypertonia, Cerebral cortical atrophy, Abnormality of the diencephalon, Cachexia, Failure... ORPHA:649
Tuberous Sclerosis Complex
Cortical dysplasia, Cortical tubers, Hyperactivity, Repetitive compulsive behavior, Attention def... ORPHA:805
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Calcification of falx cerebri ORPHA:77301
Kinsship Syndrome
Spastic tetraparesis, Primary microcephaly, Myoclonus, Stereotypy, Failure to thrive, Microcephaly OMIM:619297
Maternal Phenylketonuria
Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity ORPHA:2209
Arboleda-Tham Syndrome
Patent ductus arteriosus, Lower limb hypertonia, Stereotypy, Microcephaly, Gait imbalance OMIM:616268
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Stereotypy, Microcephaly, Agenes... ORPHA:508498
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Obesity, Dysplastic corpus callosum, Small for gestational age... OMIM:613406
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum, Hypertonia, Patent ductus arterio... OMIM:270400
Monosomy 22Q13.3
Obesity, Agenesis of corpus callosum, Hyperactivity, Impaired pain sensation ORPHA:48652
Rubinstein-Taybi Syndrome 1
Poor coordination, Patent ductus arteriosus, Truncal obesity, Unsteady gait, Failure to thrive, S... OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Stereotypy, Failure to thrive, Hyperactivity, Secondary microcephaly, O... ORPHA:353281
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Impaired pain sensation, Periventricular heterotopia, Broad-based gait, Hypopl... ORPHA:261537
Nijmegen Breakage Syndrome
Microcephaly, Hyperactivity OMIM:251260
Distal Trisomy 17Q
Microcephaly, Hyperactivity ORPHA:3379
Wolf-Hirschhorn Syndrome
Cavum septum pellucidum, Absent septum pellucidum, Periventricular cysts, Small for gestational a... OMIM:194190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Abnormal corpus callosum morphology, Failure to thrive, Stereotypy, Hyp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Abnormal corpus callosum morphology, Failure to thrive, Stereotypy, Hyp... ORPHA:353277
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Poor fine motor coordination, Patent ductus arteriosus, Cerebral whi... ORPHA:261552
Mowat-Wilson Syndrome
Inability to walk, Impaired pain sensation, Periventricular heterotopia, Hypoplasia of the corpus... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Pain insensitivity, Impaired temperature sensation, Painless fractures due to... ORPHA:642
Oculocerebrorenal Syndrome Of Lowe
Stereotypy, Clonus, Attention deficit hyperactivity disorder, Failure to thrive ORPHA:534
Mucopolysaccharidosis Type 2
Stereotypy, Hyperactivity ORPHA:580
Acrodysostosis With Multiple Hormone Resistance
Obesity, Hyperactivity, Decreased response to growth hormone stimuation test ORPHA:280651
Histidinemia
Hyperactivity ORPHA:2157
Coffin-Siris Syndrome 12
Stereotypy, Microcephaly, Hippocampal atrophy, Failure to thrive OMIM:619325
Lowe Oculocerebrorenal Syndrome
Stereotypy, Periventricular cysts, Failure to thrive OMIM:309000
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Microcephaly, Lower limb hypertonia, Obesity OMIM:309580
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Stereotypy, Microcephaly OMIM:301044
8Q24.3 Microdeletion Syndrome
Tics, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Ectopic posterior pituitary, S... ORPHA:508488

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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