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Gene: Clip2 MGI:1313136

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CAP-GLY domain containing linker protein 2

Synonyms:

WSCR4, Cyln2, CLIP-115

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Clip2 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.

Human diseases associated with Clip2 (1 diseases)
Human diseases predicted to be associated with Clip2 (356 diseases)

The table below shows human diseases associated to Clip2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Williams Syndrome		Short stature, Ataxia, Failure to thrive in infancy, Microcephaly, Atrophy/Degeneration involving...	ORPHA:904

The table below shows human diseases predicted to be associated to Clip2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spastic Paraplegia 88, Autosomal Dominant	Sensory ataxia, Distal sensory impairment, Attention deficit hyperactivity disorder, Thin corpus ...	OMIM:620106
Microcephaly 19, Primary, Autosomal Recessive	Failure to thrive in infancy, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus ca...	OMIM:617800
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Cerebral atrophy, Microcephaly	OMIM:614023
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Ataxia, Progressive neurologic deterioration, Megalencephaly, Diffuse white matter abnormalities,...	OMIM:613925
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Microcephaly, Simplified gyral pattern, Small cerebral cortex, Abnormal cerebral morphology, Abno...	ORPHA:329228
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder...	OMIM:618709
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex,...	OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 5	Reduced cerebral white matter volume, Cortical dysplasia, Simplified gyral pattern, Hypoplasia of...	OMIM:615763
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Bowen-Conradi Syndrome	Short stature, Microcephaly, Cryptorchidism, Severe postnatal growth retardation, Severe intraute...	ORPHA:1270
Microcephaly, Seizures, And Developmental Delay	Ventriculomegaly, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callos...	OMIM:613402
Microlissencephaly	Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyral pattern, Neuronal ...	ORPHA:1083
Porencephaly	Porencephalic cyst, Ventriculomegaly	ORPHA:2940
Polymicrogyria, Bilateral Temporooccipital	Polymicrogyria, Delirium, Ventriculomegaly	OMIM:612691
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Cerebral Palsy, Spastic Quadriplegic, 2	Ventriculomegaly, Cerebral atrophy	OMIM:612900
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Microcephaly, Cerebral atrophy, Lissencephaly, Hypoplasia of the corpus callosum, Cerebral white ...	OMIM:618730
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2732
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Short stature, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral white matter hyp...	ORPHA:3207
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Lissencephaly, Secondary...	OMIM:607432
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Basal ganglia calcification, Paresthesia	OMIM:615361
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Lissencephaly, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:618677
Lissencephaly 3	Ataxia, Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyri...	OMIM:611603
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Diffuse cerebral atrophy, Ataxia, Confusion, Gait ataxia, Dementia, Mental deterioration, Cerebra...	OMIM:615362
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Unilateral cryptorchidism, Attention deficit hyperactivity disorder, Agenesis of ...	OMIM:618286
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Microcephaly 17, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, P...	OMIM:617090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Progressive microcephaly	OMIM:616486
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Short stature	ORPHA:2466
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly	ORPHA:171703
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Microcephaly, Cortical dysplasia, Impaired proprioception, Failure ...	ORPHA:319199
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Yoon-Bellen Neurodevelopmental Syndrome	Failure to thrive, Ataxia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Per...	OMIM:619701
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Ventriculomegaly, Short stature, Gait ataxia, Hypoplasia of the corpus callosum, Cerebral cortica...	OMIM:617862
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Failure to thrive, Ataxia, Microcephaly	OMIM:618276
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Juvenile Huntington Disease	Neuronal loss in basal ganglia, Ataxia, Chorea, Gait ataxia, Weight loss, Abnormal cerebral white...	ORPHA:248111
Bonnemann-Meinecke-Reich Syndrome	Cerebral calcification, Short stature, Ventriculomegaly, Microcephaly	ORPHA:1261
Leukoencephalopathy, Cystic, Without Megalencephaly	Cerebral calcification, Ataxia, Microcephaly, Leukoencephalopathy, Athetosis, Focal white matter ...	OMIM:612951
Intellectual Developmental Disorder, Autosomal Recessive 69	Ataxia, Ventriculomegaly, Microcephaly	OMIM:618383
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Postnatal growth retardation, Frontotemporal cerebral...	ORPHA:391417
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Decreased bod...	ORPHA:255138
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly, Gait ataxia	OMIM:616540
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Ventriculomegaly	OMIM:619501
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	OMIM:616570
Mitochondrial Complex I Deficiency, Nuclear Type 31	Progressive neurologic deterioration, Failure to thrive, Ventriculomegaly, Dysmetria	OMIM:618251
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cerebral dysmyelination, Progre...	OMIM:611722
Microcephaly-Cardiomyopathy Syndrome	Short stature, Microcephaly, Cognitive impairment, Intrauterine growth retardation, Ventriculomegaly	ORPHA:2515
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:1980
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ...	ORPHA:85179
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1568
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Pachygyria, Ventriculomegaly, Microcephaly	OMIM:617613
Narp Syndrome	Abnormal basal ganglia MRI signal intensity, Short stature, Ataxia, Progressive gait ataxia, Deme...	ORPHA:644
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Frontal cortical atrophy, Short stature, Ventriculomegaly	OMIM:300699
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul...	ORPHA:171680
Leukoencephalopathy With Vanishing White Matter 4	Corpus callosum atrophy, Ventriculomegaly, Cerebral cortical atrophy, Leukoencephalopathy	OMIM:620314
Autosomal Recessive Primary Microcephaly	Short stature, Microcephaly, Growth delay, Hypoplasia of the frontal lobes, Pachygyria, Agenesis ...	ORPHA:2512
Mehmo Syndrome	Small for gestational age, Microcephaly, Obesity, Gait ataxia, Birth length less than 3rd percent...	OMIM:300148
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Intellectual Developmental Disorder, X-Linked 111	Reduced cerebral white matter volume, Corpus callosum atrophy, Hippocampal atrophy, Thin corpus c...	OMIM:301107
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Leukoencephalopathy, Dementia, Cognitive impairment, Ventric...	OMIM:603472
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Ataxia, Temporal cortical atrophy, Attention deficit hyperactivity disorder, Fro...	ORPHA:137831
3-Hydroxyisobutyric Aciduria	Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro...	ORPHA:939
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Short stature, Large for gestational age, Growth delay, Ventriculomegaly	OMIM:616116
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi...	OMIM:614833
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Dysplastic corpus callosum, Hypoesthesia, Obesity, Memory impairmen...	OMIM:619737
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Short stature, Simplified gyral pattern, Thick corpus callosum, Truncal ataxia, Ventriculomegaly	OMIM:618273
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Ataxia, Small for gestational age, Microcephaly, Partial agenesis of the corpus...	ORPHA:79243
Congenital Toxoplasmosis	Cerebral calcification, Failure to thrive in infancy, Microcephaly, Hydrocephalus, Cognitive impa...	ORPHA:858
Kohlschutter-Tonz Syndrome	Ataxia, Microcephaly, Cerebral atrophy, Dementia, Ventriculomegaly	OMIM:226750
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Dementia, Ataxia, Ventriculomegaly	OMIM:206570
Brain Small Vessel Disease 2	Schizencephaly, Porencephalic cyst, Growth delay, Polymicrogyria, Ventriculomegaly	OMIM:614483
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpus ca...	OMIM:617977
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Chorea, Ataxia, Ventriculomegaly, Microcephaly	OMIM:619150
Spastic Paraplegia 75, Autosomal Recessive	Corpus callosum atrophy, Impaired distal vibration sensation, Dysmetria, Cognitive impairment, Ve...	OMIM:616680
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Pachygyria, Abn...	ORPHA:467166
Spastic Paraplegia 47, Autosomal Recessive	Short stature, Microcephaly, Overweight, Hypoplasia of the corpus callosum, Abnormal periventricu...	OMIM:614066
Macdermot-Winter Syndrome	Intrauterine growth retardation, Ventriculomegaly, Microcephaly	OMIM:247990
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Chorea, Frontal lobe dementia, Memory impairment, Cerebral...	ORPHA:2770
Huntington Disease-Like 1	Chorea, Abnormal basal ganglia morphology, Dysmetria, Gait ataxia, Weight loss, Dementia, Cogniti...	ORPHA:157941
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Progressive neurologic deterioration, Cryptorchidism, Leukoencephalopathy, Aplasia/Hypoplasia of ...	ORPHA:88639
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Intrauterine growth...	ORPHA:1495
Maternal Uniparental Disomy Of Chromosome 1	Ataxia, Short stature, Progressive psychomotor deterioration, Growth delay, Failure to thrive, Ve...	ORPHA:251009
Peho-Like Syndrome	Ventriculomegaly, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Polymicrogyria, P...	OMIM:617507
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Hypoplasia ...	OMIM:616034
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Cognitive impairment, Frontal cortical atrophy, Ventriculomegaly, Fatigable weakness of skeletal ...	ORPHA:206559
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Microcephaly, Postnatal growth retardation, Truncal obesity, Abdominal obesity	OMIM:618160
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, ...	OMIM:312170
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Athetosis, Intrauterine growth retardation, Cerebral cortical atrophy, Ventriculomegaly	OMIM:619922
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Ataxia, Dysmetria, Paresthesia, Intrauterine growth retardation, Cerebral cortical...	ORPHA:48431
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age, Intrauterine growth retardation	OMIM:620135
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Microcephaly, Impaired pain sensation, Chorea, Cerebral atrophy, Gait ataxia, Hypoplasia of the c...	ORPHA:500180
Joubert Syndrome 31	Ventriculomegaly, Hypoplasia of the corpus callosum, Truncal ataxia	OMIM:617761
Insulin-Like Growth Factor I Deficiency	Short attention span, Short stature, Microcephaly, Postnatal growth retardation, Decreased body w...	OMIM:608747
Ataxia-Deafness-Intellectual Disability Syndrome	Ataxia, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:1188
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca...	OMIM:304100
Trisomy 5P	Short stature, Obesity, Ventriculomegaly	ORPHA:1742
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Failure to thrive, Ventriculomegaly	OMIM:619556
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ...	OMIM:618603
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Cerebral dysmyelination, Perisylvian polymicrogyria, Dysmetria, Truncal a...	OMIM:606854
Microhydranencephaly	Short stature, Microcephaly, Growth delay, Athetosis, Hydranencephaly, Pachygyria, Agenesis of co...	OMIM:605013
Neurodevelopmental Disorder With Involuntary Movements	Microcephaly, Chorea, Cerebral atrophy, Athetosis, Hypoplasia of the corpus callosum, Ventriculom...	OMIM:617493
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Congenital Muscular Dystrophy With Intellectual Disability	Fatigable weakness of skeletal muscles, Microcephaly, Cryptorchidism, Hypoplasia of the corpus ca...	ORPHA:370968
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Ataxia, Short stature, Cachexia, Microcephaly, Ventriculomegaly	ORPHA:1933
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Microcephaly, Chorea, Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Ventri...	OMIM:614254
Gm2 Gangliosidosis, Ab Variant	Short stature, Postnatal growth retardation, Chorea, Cerebral atrophy, Cognitive impairment, Punc...	ORPHA:309246
Mucolipidosis Iv	Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc...	OMIM:252650
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Short stature, Cryptorchidism, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnorma...	OMIM:300354
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Ventriculomegaly, Obesity, Hypoplasia of the corpus callosum	ORPHA:521390
Cornelia De Lange Syndrome 2	Short stature, Microcephaly, Postnatal growth retardation, Cognitive impairment, Intrauterine gro...	OMIM:300590
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Microcephaly, Cerebral atrophy, Thin corpus callosum, Ventriculomegaly	OMIM:619851
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ataxia, Short stature, Ventriculomegaly	OMIM:230650
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, T2 hypointense basal ganglia, Abnorma...	ORPHA:25
Clcn4-Related X-Linked Intellectual Disability Syndrome	Microcephaly, Cryptorchidism, Chorea, Abnormal cerebral white matter morphology, Progressive cere...	ORPHA:485350
Williams-Beuren Region Duplication Syndrome	Short stature, Small for gestational age, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus...	OMIM:609757
Christianson Syndrome	Cachexia, Microcephaly, Gait ataxia, Aplasia/Hypoplasia of the corpus callosum, Truncal ataxia, C...	ORPHA:85278
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Short stature, Small for gestational age, Microcephaly, Cryptorchidism...	OMIM:300957
Galloway-Mowat Syndrome 5	Periventricular leukomalacia, Ataxia, Primary microcephaly, Pachygyria, Ventriculomegaly	OMIM:617731
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Short stature, Dysmetria, Growth delay, Progressive cerebellar ataxia...	ORPHA:363429
6Q25 Microdeletion Syndrome	Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:251056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Abnormal ce...	OMIM:613153
Hemimegalencephaly	Pachygyria, Hemimegalencephaly, Hyperintensity of cerebral white matter on MRI, Focal cortical dy...	ORPHA:99802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cognitive impairment, Intraute...	OMIM:615330
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Oxoglutarate Dehydrogenase Deficiency	Gait ataxia, Ventriculomegaly, Dysmetria	OMIM:203740
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Postnatal growth retardation, Dysplastic...	ORPHA:357058
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Intrauterine growth re...	OMIM:610333
Developmental And Epileptic Encephalopathy 99	Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Frontotemporal cerebral atrophy,...	OMIM:619606
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:617051
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Choreoathetosis, Hypopl...	ORPHA:2524
Baraitser-Winter Syndrome 2	Short stature, Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ve...	OMIM:614583
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Growth del...	OMIM:620156
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Ventriculomegaly, Short stature, Hypoplasia of the corpus callosum	OMIM:620210
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Decreased ...	OMIM:615433
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve...	OMIM:618577
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Short stature, Microcephaly, Attention deficit hyperactivity disorder, Decr...	OMIM:618342
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic deterioration, Microc...	OMIM:214150
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Congenital Disorder Of Glycosylation, Type Iih	Ataxia, Failure to thrive in infancy, Ventriculomegaly, Microcephaly	OMIM:611182
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Bilateral Frontoparietal Polymicrogyria	Cortical dysplasia, Ventriculomegaly, Cerebral dysmyelination, Microcephaly	ORPHA:101070
Rasmussen Subacute Encephalitis	Abnormal basal ganglia morphology, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, C...	ORPHA:1929
Lissencephaly 8	Ventriculomegaly, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Type I...	OMIM:617255
Craniofacial Dyssynostosis With Short Stature	Short stature, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corp...	OMIM:218350
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro...	ORPHA:272
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Severe short stature, Ventriculomegaly, Microcephaly	ORPHA:2643
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in...	ORPHA:488627
Developmental And Epileptic Encephalopathy 9	Attention deficit hyperactivity disorder, Ventriculomegaly	OMIM:300088
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Ventriculomegaly, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the cor...	OMIM:615760
Congenital Neuronal Ceroid Lipofuscinosis	Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Pachygyria, Agenesis of cor...	ORPHA:168486
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral patt...	OMIM:619179
Baraitser-Winter Syndrome 1	Failure to thrive, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Lis...	OMIM:243310
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Truncal ataxia, Mental deterioration, Intrauterine growth retardation, Ventriculomegaly	OMIM:619051
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Short stature, Ataxia, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, D...	ORPHA:505237
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal basal ganglia MRI signal intensity, Microcephaly, Choreoathetosis, Hypoplasia of the cor...	ORPHA:431361
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Failure to thrive, Short stature, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, Intrauterine...	OMIM:619833
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Ataxia, Ventriculomegaly	OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Reduced cerebral white matter volume, Progressive neurologic deteriora...	OMIM:618253
Pyruvate Dehydrogenase Deficiency	Ataxia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Choreoathetosis, I...	ORPHA:765
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Microcephaly, Cryptorchidism, Disproportionate short-limb short stature, Intrauterine growth reta...	ORPHA:2772
Developmental And Epileptic Encephalopathy 1	Growth delay, Choreoathetosis, Ventriculomegaly, Microcephaly	OMIM:308350
Congenital Disorder Of Glycosylation, Type Ii	Short stature, Microcephaly, Decreased body weight, Focal T2 hyperintense basal ganglia lesion, T...	OMIM:607906
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:617967
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Megalencephaly, Periventricular white matter hyperintensities, Cerebral white matter hypoplasia, ...	ORPHA:500533
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Ventriculomegaly, Type II lissencephaly	ORPHA:324416
Hoyeraal-Hreidarsson Syndrome	Cerebral calcification, Short stature, Ataxia, Microcephaly, Intrauterine growth retardation, Fai...	ORPHA:3322
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:618974
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:457260
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, ...	OMIM:225790
Brain Malformations With Or Without Urinary Tract Defects	Cognitive impairment, Hypoplasia of the corpus callosum, Failure to thrive, Agenesis of corpus ca...	OMIM:613735
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus c...	OMIM:616362
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Diffuse cerebral atrophy, Ataxia, Leukoencephalopathy, Cerebral atrophy, Dysmetria, Athetosis, In...	OMIM:617710
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Microcephaly, Perisylvian polymicrogyria, Dysmetria, Growth delay, Hypoplasia of the corpus callo...	OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Ventriculomegaly, Decreased body weight, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300958
Optic Atrophy 11	Short stature, Ataxia, Microcephaly, Dysmetria, Leukoencephalopathy, Athetosis, Attention deficit...	OMIM:617302
X-Linked Intellectual Disability, Cantagrel Type	Ventriculomegaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:85277
Moyamoya Disease	Ventriculomegaly	ORPHA:2573
Alg8-Cdg	Ataxia, Small for gestational age, Leukoencephalopathy, Hypoplasia of the corpus callosum, Intrau...	ORPHA:79325
Smith-Kingsmore Syndrome	Rhizomelia, Reduced cerebral white matter volume, Megalencephaly, Large for gestational age, Cryp...	OMIM:616638
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Failure to thrive, Short stature, Microcephaly, Dilated third vent...	ORPHA:500055
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Linear Verrucous Nevus Syndrome	Mental deterioration, Ventriculomegaly, Dandy-Walker malformation, Aplasia/Hypoplasia of the corp...	ORPHA:2611
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature	OMIM:619423
Mitochondrial Complex I Deficiency, Nuclear Type 37	Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Growth delay, Failure to thrive, Cerebra...	OMIM:619272
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Microcephaly, Cryptorchidism, Hypoplasia of the corpus callosum, Decreased body we...	OMIM:617452
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Failure to thrive, Simplified gyral pattern, Microcephaly	OMIM:620001
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Simplified gyral pattern, Ventriculomegaly, Primary microcephaly	OMIM:619180
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Attention deficit hyperactivity disorder, Failure to t...	OMIM:617788
Even-Plus Syndrome	Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum	OMIM:616854
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Short stature, Ataxia, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ventricul...	OMIM:618547
Xq12-Q13.3 Duplication Syndrome	Abnormal basal ganglia MRI signal intensity, Short stature, Microcephaly, Impaired pain sensation...	ORPHA:314389
Methylcobalamin Deficiency Type Cble	Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnormal cerebral white matter morphol...	ORPHA:2169
Lissencephaly, X-Linked, 2	Lissencephaly, Pachygyria, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly	OMIM:300215
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Cognitive impairm...	ORPHA:395
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Hydrocephalus, Mental deterioration, Cognitive impairment, Hyperi...	OMIM:618476
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Ataxia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:612936
Developmental And Epileptic Encephalopathy 65	Ventriculomegaly, Cerebral atrophy, Microcephaly	OMIM:618008
49,Xxxyy Syndrome	Eunuchoid habitus, Abnormality of the testis size, Abnormal cerebral white matter morphology, Dec...	ORPHA:261534
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Ventriculomegaly, Primary microcephaly	ORPHA:2172
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Short stature, Microcephaly, Cerebral atrophy, Secondary microcephaly, Hypoplas...	OMIM:615851
Multiple Sulfatase Deficiency	Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter mor...	OMIM:272200
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Microcephaly, Cryptorchidism, Growth delay, Cognitive impairment, Intrauterine growth retardation...	ORPHA:2083
Caribbean Parkinsonism	T2 hypointense basal ganglia, Frontal lobe dementia, Progressive gait ataxia, Dementia, Lewy bodi...	ORPHA:97355
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly, Intrauterine ...	OMIM:619074
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Microcephaly, Diffuse white matter abnormalities, Growth delay, Hypoplasia of the corpus callosum...	ORPHA:466934
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Failure to thrive, Ag...	OMIM:620352
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature	OMIM:109120
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Short stature, Failure to thriv...	OMIM:620024
Orofaciodigital Syndrome Xvii	Short stature, Ventriculomegaly, Decreased body weight	OMIM:617926
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Cortical dysplasia, Ce...	OMIM:612513
Cog8-Cdg	Ventriculomegaly, Failure to thrive, Ataxia, Progressive microcephaly	ORPHA:95428
Sandestig-Stefanova Syndrome	Small for gestational age, Hypoplasia of the corpus callosum, Primary microcephaly, Intrauterine ...	OMIM:618804
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:604273
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Cryptorchidism, Hypoplasia of the corpus callosum, Attention defici...	ORPHA:494344
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum	ORPHA:228384
Smith-Magenis Syndrome	Short stature, Failure to thrive in infancy, Microcephaly, Impaired pain sensation, Obesity, Apla...	ORPHA:819
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Cerebral white matter atrophy, Ventriculomegaly, Short stature, Abnormal cortical gyration, Micro...	ORPHA:79351
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Ataxia, Microcephaly, Cryptorchidism, Simplified gyral pattern, Dysmetria, Truncal...	OMIM:616541
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Growth delay, Hypoplas...	OMIM:614576
Fanconi Anemia, Complementation Group W	Microcephaly, Growth delay, Intrauterine growth retardation, Abnormal periventricular white matte...	OMIM:617784
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Absent septum pellucidum, Microcephaly, Cryptorchidism, Obesity, Growth delay,...	ORPHA:96147
Goldberg-Shprintzen Megacolon Syndrome	Short stature, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Ventriculomegaly	ORPHA:66629
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Ventriculomegaly, Failure to thrive, Reduced cerebral ...	OMIM:615574
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Hyperintensi...	ORPHA:88618
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ataxia, Small for gestational age, Microcephaly, Cerebral atrophy, Growth delay, Abnormal cerebra...	OMIM:615471
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ataxia, Leukoencephalopathy, Cerebral atrophy, Dysmetria, Athetosis, La...	ORPHA:572798
Congenital Disorder Of Glycosylation, Type If	Ataxia, Microcephaly, Cerebral atrophy, Failure to thrive, Ventriculomegaly	OMIM:609180
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular ...	ORPHA:544488
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Partial agenesis of the corpus callosum, Secondary microcephaly, Primary microcephaly, Hyperinten...	ORPHA:500144
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Diffuse white matter abnormalities, Hyd...	ORPHA:370959
Pontocerebellar Hypoplasia, Type 2B	Ventriculomegaly, Microcephaly, Chorea, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:612389
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Desmosterolosis	Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi...	ORPHA:35107
Galloway-Mowat Syndrome 9	Microcephaly, Choreoathetosis, Secondary microcephaly, Cerebral cortical atrophy, Thin corpus cal...	OMIM:619603
Gillespie Syndrome	Ataxia, Thin corpus callosum, Ventriculomegaly	OMIM:206700
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Cryptorchidism, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Warburg Micro Syndrome 3	Decreased testicular size, Microcephaly, Postnatal growth retardation, Secondary microcephaly, Hy...	OMIM:614222
Lissencephaly Due To Lis1 Mutation	Thick cerebral cortex, Ventriculomegaly, Progressive microcephaly, Anterior predominant thick cor...	ORPHA:95232
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Obesity, Decreased body weight, Ventriculomegaly	ORPHA:589821
Pettigrew Syndrome	Ventriculomegaly, Cerebral calcification, Microcephaly, Aqueductal stenosis, Basal ganglia calcif...	OMIM:304340
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Microcephaly, Gait ataxia, Choreoathetosis, Attention deficit hyper...	OMIM:619580
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Small for gestational age, Microcephaly, Hypodysplasia of the co...	OMIM:257300
Kleefstra Syndrome Due To A Point Mutation	Short stature, Microcephaly, Large for gestational age, Abnormal cerebral white matter morphology...	ORPHA:261652
1Q44 Microdeletion Syndrome	Short stature, Microcephaly, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculo...	ORPHA:238769
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Cerebral cortical atrophy, Ventriculomegaly, Abnormal corpus callosum morphology	ORPHA:3224
Cerebrofacioarticular Syndrome	Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosu...	ORPHA:314679
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,...	ORPHA:899
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c...	OMIM:617281
Gm1-Gangliosidosis, Type Ii	Ataxia, Progressive psychomotor deterioration, Cerebral atrophy, Failure to thrive, Ventriculomegaly	OMIM:230600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria	ORPHA:2328
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebral cortical atrophy, V...	OMIM:617669
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions, Short stature	ORPHA:557003
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Ataxia, Cryptorchidism, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Hypop...	OMIM:614969
1P31P32 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Ventriculomegaly, Aplasia/Hypoplasia of the corpus call...	ORPHA:401986
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microcephaly, Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardatio...	OMIM:241410
Toriello-Carey Syndrome	Ventriculomegaly, Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Part...	ORPHA:3338
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th...	OMIM:614924
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Microcephaly, Bilateral cryptorchidism, Basal ganglia calcification...	OMIM:278800
Developmental And Epileptic Encephalopathy 80	Failure to thrive, Growth delay, Abnormal cerebral white matter morphology, Hypoplasia of the cor...	OMIM:618580
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Focal polymicrogyria, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Partial agenesis ...	OMIM:619103
Pseudo-Torch Syndrome 1	Failure to thrive, Cerebral calcification, Microcephaly, Lissencephaly, Pachygyria, Polymicrogyri...	OMIM:251290
Seckel Syndrome 9	Short stature, Small for gestational age, Microcephaly, Simplified gyral pattern, Intrauterine gr...	OMIM:616777
Combined Oxidative Phosphorylation Deficiency 14	Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Growth delay, Basal ganglia gliosis, Ce...	OMIM:614946
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Cadds	Abnormal cerebral white matter morphology, Ventriculomegaly, Intrauterine growth retardation	ORPHA:369942
Bilateral Polymicrogyria	Ventriculomegaly, 4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Peris...	ORPHA:268940
Pontocerebellar Hypoplasia, Type 10	Ventriculomegaly, Reduced cerebral white matter volume, Microcephaly, Cryptorchidism, Simplified ...	OMIM:615803
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Failure to thrive, Short stature, Absent septum pellucidum, Rhizomelic leg shor...	ORPHA:397715
Halperin-Birk Syndrome	Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus callosum, Ve...	OMIM:618651
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Abnormal cortical gyration, Cessation of head growth, Hypoplasia of the corpus ...	OMIM:617527
Galloway-Mowat Syndrome 3	Failure to thrive, Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Lisse...	OMIM:617729
Fumarase Deficiency	Failure to thrive, Microcephaly, Mitochondrial swelling, Choroid plexus cyst, Cerebral atrophy, L...	OMIM:606812
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Failure to thrive, Short stature, Cerebral atrophy	OMIM:616430
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Periventricular cysts, Growth delay, Subependymal cysts, I...	ORPHA:3008
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ventriculomegaly, Severe short stature, Microcephaly, Cryptorchidism, Cortical dysplasia, Simplif...	ORPHA:468631
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Cerebral edema, Cerebral atrophy, Gait ataxia, Abnormal cerebral white matter mor...	OMIM:618321
Desmosterolosis	Rhizomelia, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypopla...	OMIM:602398
Galloway-Mowat Syndrome 1	Ventriculomegaly, Short stature, Ataxia, Small for gestational age, Microcephaly, Cerebral atroph...	OMIM:251300
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Ventriculo...	ORPHA:261197
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Short stature, Microcephaly, Basal ganglia calcification, Ventriculomegaly	OMIM:610651
Microcephaly 30, Primary, Autosomal Recessive	Intrauterine growth retardation, Cerebral cortical atrophy, Ventriculomegaly, Primary microcephaly	OMIM:620183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpus callosum, Hyd...	OMIM:614643
Leukodystrophy, Hypomyelinating, 12	Ventriculomegaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616683
Sanjad-Sakati Syndrome	Short stature, Microcephaly, Postnatal growth retardation, Cryptorchidism, Severe intrauterine gr...	ORPHA:2323
Combined Oxidative Phosphorylation Deficiency 39	Microcephaly, Simplified gyral pattern, Cerebral atrophy, Intrauterine growth retardation, Pachyg...	OMIM:618397
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl...	ORPHA:98754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria,...	OMIM:616538
Isolated Sedoheptulokinase Deficiency	Severe postnatal growth retardation, Subcortical cerebral atrophy, Short stature, Ventriculomegaly	ORPHA:440713
Amish Lethal Microcephaly	Ventriculomegaly, Agenesis of corpus callosum, Lissencephaly, Microcephaly	ORPHA:99742
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Short stature, Small for gestational age, Impaired temperature sensation, Cryptorchidism, Perisyl...	ORPHA:177901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi...	OMIM:613154
Fanconi Anemia, Complementation Group B	Hydrocephalus, Growth delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, ...	OMIM:300514
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Short stature, Chorea, Disproporti...	ORPHA:1855
Prader-Willi Syndrome	Short stature, Impaired temperature sensation, Cryptorchidism, Perisylvian polymicrogyria, Abnorm...	ORPHA:739
Lenz-Majewski Hyperostotic Dwarfism	Short stature, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Intrauterine growth reta...	OMIM:151050
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Ventriculomegaly, Polymicrogyria, Agyria, Hypoplasia of the corpus callosum	ORPHA:370997
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:617260
Rhombencephalosynapsis	Septo-optic dysplasia, Ataxia, Hydrocephalus, Ventriculomegaly	ORPHA:59315
Crane-Heise Syndrome	Cryptorchidism, Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of the corp...	ORPHA:1512
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Microcephaly, Failure to thrive, Ventriculomegaly	OMIM:610965
Distal Deletion 3P	Short stature, Microcephaly, Cryptorchidism, Cognitive impairment, Intrauterine growth retardatio...	ORPHA:1620
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Microcephaly, Cryptorchidism, Birth length less than 3rd percentile, H...	ORPHA:464311
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Ataxia, Microcephaly, Neuronal loss in the cerebral cortex, Truncal obesity, Trunc...	OMIM:301072
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Failure to thrive, Microcephaly, C...	ORPHA:444072
Neurooculorenal Syndrome	Postnatal growth retardation, Cryptorchidism, Partial agenesis of the corpus callosum, Aqueductal...	OMIM:620305
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2612
Cockayne Syndrome A	Short stature, Ataxia, Microcephaly, Cryptorchidism, Basal ganglia calcification, Cerebral atroph...	OMIM:216400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Megalencephaly, Large for gestational age, Thick corpus callosum, Ga...	OMIM:617011
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Hydrocephalus, Abnormal bas...	ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Cryptorchidism, Hydrocephalus,...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Ventriculomegaly, Absent septum pellucidum, Cortical dysplasia, Hydr...	OMIM:615287
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Cryptorchidism, Choroid plexus cyst, Hypoplasia of the corpus ...	OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Type II l...	OMIM:613150
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum	OMIM:618810
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Abnormal cerebral white matter morphology, Ventriculomegaly, Small for gestational age, Hypoplasi...	OMIM:614501
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Microcephaly, Growth delay, Hypoplasia of the corpus callosum, Fail...	OMIM:619418
Holoprosencephaly 14	Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis, Partial agenesis o...	OMIM:619895
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Large for gestational age, Diffuse white matter abno...	ORPHA:457359
Zttk Syndrome	Failure to thrive, Short stature, Dysplastic corpus callosum, Growth delay, Abnormal cerebral whi...	OMIM:617140
Hydranencephaly	Ventriculomegaly, Postnatal growth retardation, Primary microcephaly, Intrauterine growth retarda...	ORPHA:2177
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Secondary mic...	OMIM:618820
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Ataxia, Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrog...	OMIM:610442
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, Growth delay, Secondary microcephaly, Hypoplasia of the corpus callosum, Failur...	OMIM:617248
Wolf-Hirschhorn Syndrome	Short stature, Absent septum pellucidum, Small for gestational age, Microcephaly, Cryptorchidism,...	OMIM:194190
Gabriele-De Vries Syndrome	Small for gestational age, Cryptorchidism, Abnormal cerebral white matter morphology, Hypoplasia ...	ORPHA:506358
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Failure to thrive in infancy, Proportionate short stature, Dysplastic corpus ca...	ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Dysplastic corpus callosum, Cryptorchidism, Thick corpus callosum, Delayed puberty, Slend...	OMIM:300967
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Bilateral cryptorchidism, Dysplastic corpus callosum, Cryptorchidism, Hypoplasia of the c...	ORPHA:466791
Witteveen-Kolk Syndrome	Unilateral cryptorchidism, Short stature, Small for gestational age, Microcephaly, Dysplastic cor...	OMIM:613406
Williams Syndrome	Short stature, Ataxia, Failure to thrive in infancy, Microcephaly, Atrophy/Degeneration involving...	ORPHA:904

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 Clip2

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 Clip2.

No publications found that use IMPC mice or data for Clip2.

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.

MGI Allele	Allele Type	Produced
Clip2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Clip2^{tm182672(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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