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Gene: Dclk1 MGI:1330861

Gene Summary

Name:

doublecortin-like kinase 1

Synonyms:

Click-I, Dcl, Dcamkl1, DCLK, 2810480F11Rik, CPG16, 1700113D08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased grip strength	Dclk1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.78×10^-06
increased grip strength	Dclk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.61×10^-06
increased circulating aspartate transaminase level	Dclk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.33×10^-05
decreased body length	Dclk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.80×10^-05
decreased circulating magnesium level	Dclk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.31×10^-06
increased anti-nuclear antigen antibody level	Dclk1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.00
increased anti-nuclear antigen antibody level	Dclk1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.00

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

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Anti-nuclear antibody assay

Images

22 Images

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X-ray

XRay Images Forepaw

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

24 Images

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DSS Histology

Images

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

24 Images

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X-ray

XRay Images Skull Lateral Orientation

24 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

15 Images

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Legacy Phenotype Associated Images

Dclk1^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

Dclk1^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 179 images

Dclk1^{tm1a(EUCOMM)Wtsi}
abnormal coat/hair pigmentation, HOM, Male, WTSI

Dclk1^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Human diseases caused by Dclk1 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 Dclk1 (0 diseases)
Human diseases predicted to be associated with Dclk1 (472 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dclk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen...	OMIM:615771
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401830
Lissencephaly 3	Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum	OMIM:618286
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Lissencephaly Due To Tuba1A Mutation	Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ...	ORPHA:171680
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:303350
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Refractory Celiac Disease	Hypomagnesemia, Autoimmune antibody positivity, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, ...	ORPHA:398063
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum	OMIM:619548
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly	OMIM:618276
Dihydropyrimidine Dehydrogenase Deficiency	Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ...	OMIM:613153
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp...	ORPHA:255138
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Spinocerebellar Ataxia 23	Agenesis of corpus callosum	OMIM:610245
Glycine Encephalopathy 1	Agenesis of corpus callosum	OMIM:605899
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Anti-thyroid peroxidase a...	ORPHA:37042
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ...	OMIM:164180
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc...	ORPHA:1578
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per...	OMIM:604360
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos...	OMIM:618603
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ...	ORPHA:79243
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Foxg1 Syndrome	Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph...	ORPHA:561854
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Agenesis of corpus callosum, Microcephaly	OMIM:615286
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr...	OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly...	OMIM:615249
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Pontocerebellar Hypoplasia, Type 11	Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:617695
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Combined Oxidative Phosphorylation Deficiency 2	Agenesis of corpus callosum	OMIM:610498
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:615433
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:312170
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto...	ORPHA:370959
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ...	ORPHA:2524
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Frontonasal Dysplasia 1	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph...	OMIM:136760
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616362
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Fg Syndrome 3	Agenesis of corpus callosum	OMIM:300406
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypomagnesemia	OMIM:248190
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Agenesis of corpus callosum	OMIM:250620
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Hypomagnesemia 3, Renal	Hyperuricemia, Hypomagnesemia	OMIM:248250
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si...	ORPHA:300570
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hashimoto thyroiditis	ORPHA:358
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hypoplasia of the pyramidal tract, Pachygyria, Hydrocephalus, Hypoplasia of the br...	OMIM:253800
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
4Q21 Microdeletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the...	OMIM:614643
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:899
Cystinosis, Nephropathic	Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho...	OMIM:219800
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca...	OMIM:620352
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens...	ORPHA:481152
Temtamy Syndrome	Agenesis of corpus callosum, Thick corpus callosum	OMIM:218340
Immunodeficiency 49	Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume	OMIM:617237
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of t...	OMIM:613150
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Ring Chromosome 22 Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca...	ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hydrocephalus, Cerebellar hypoplasia, Hyperintensity of cerebral white ma...	OMIM:618476
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ...	OMIM:609053
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620250
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per...	OMIM:617360
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu...	OMIM:619720
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th...	ORPHA:3157
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc...	ORPHA:357058
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal ganglia calcification, ...	OMIM:617281
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:615802
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca...	ORPHA:220493
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus	OMIM:612863
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Chromosome 5P13 Duplication Syndrome	Agenesis of corpus callosum	OMIM:613174
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A...	OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly,...	OMIM:236670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Co...	ORPHA:468631
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:35107
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy...	OMIM:264480
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum	OMIM:618109
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Ritscher-Schinzel Syndrome 4	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 22	Agenesis of corpus callosum, Microcephaly	OMIM:612337
Birk-Landau-Perez Syndrome	Pachygyria, Agenesis of corpus callosum, Microcephaly	OMIM:617595
Emanuel Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesi...	ORPHA:96170
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu...	OMIM:619775
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus	ORPHA:3301
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation	OMIM:617296
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ...	ORPHA:314679
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Intellectual Disability-Strabismus Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:363528
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp...	OMIM:243605
Radio-Tartaglia Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619312
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia	OMIM:619503
Halperin-Birk Syndrome	Colpocephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly	OMIM:618651
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum	ORPHA:1812
Microform Holoprosencephaly	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Holoprosencephaly 14	Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag...	OMIM:619895
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Dandy-W...	OMIM:257300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum	OMIM:618929
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:261236
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Duplication Of The Pituitary Gland	Encephalocele, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly	ORPHA:314621
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Hypoplasia of the corpu...	OMIM:603671
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Fumarase Deficiency	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene...	OMIM:606812
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:619148
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:605039
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co...	OMIM:613457
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu...	OMIM:619512
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:277170
Alexander Disease	Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca...	ORPHA:58
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem...	OMIM:615465
8P Inverted Duplication/Deletion Syndrome	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:96092
Kleefstra Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:261494
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten...	ORPHA:3008
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:261323
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum	OMIM:117550
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:123790
Melas	Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c...	ORPHA:550
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Peroxisome Biogenesis Disorder 5A (Zellweger)	Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic...	OMIM:614866
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:101200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Brain-Lung-Thyroid Syndrome	Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly	ORPHA:209905
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce...	OMIM:602535
Chromosome 13Q14 Deletion Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpu...	OMIM:613884
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age...	ORPHA:2745
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri...	ORPHA:508498
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ...	ORPHA:2461
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l...	ORPHA:33364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:242840
Holoprosencephaly 9	Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis...	OMIM:610829
Bohring-Opitz Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc...	ORPHA:97297
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Meckel Syndrome, Type 1	Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dandy-W...	OMIM:249000
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Myoectodermal Gonadal Dysgenesis Syndrome	Agenesis of corpus callosum	OMIM:618419
Jacobsen Syndrome	Pachygyria, Agenesis of corpus callosum, Cerebral atrophy, Spina bifida	ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:352665
Coffin-Siris Syndrome	Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly	ORPHA:1465
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus	OMIM:300373
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:157170
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ...	ORPHA:363958
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum	OMIM:618748
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida	OMIM:619480
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Fryns Syndrome	Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-...	OMIM:229850
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dandy-Walker malformation, Microcephaly, Partial agenesis of the corpus...	OMIM:270400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Neu-Laxova Syndrome 1	Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes...	OMIM:256520
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly	ORPHA:280
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:93924
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene...	ORPHA:95494
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, A...	OMIM:619841
Gabriele-De Vries Syndrome	Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:506358
Rubinstein-Taybi Syndrome 1	Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,...	OMIM:180849
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Hydrocephalus, Leukoencephalopathy, Lateral ventricle dilatation, Hypop...	OMIM:607872
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc...	OMIM:194190
Yunis-Varon Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pach...	ORPHA:3472
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w...	ORPHA:500150
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymic...	OMIM:218600
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Monosomy 22Q13.3	Agenesis of corpus callosum	ORPHA:48652
Degcags Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:619488
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
1P36 Deletion Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:1606
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:264090
Coffin-Siris Syndrome 1	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b...	OMIM:135900
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum	ORPHA:466791
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ...	OMIM:220111
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpu...	ORPHA:3455
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha...	ORPHA:2152
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co...	OMIM:216340
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210

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 Dclk1

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 Dclk1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dclk1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Functional analysis of candidate genes from genome-wide association studies of hearing.	Hearing research (January 2020)	Dclk1^{tm1a(EUCOMM)Wtsi}	PMC6996162
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dclk1^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dclk1^{tm1a(EUCOMM)Wtsi} Dclk1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dclk1^{tm1a(EUCOMM)Wtsi} Dclk1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dclk1^{tm1a(EUCOMM)Wtsi}	PMC5827107

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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
Dclk1^{tm438463(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dclk1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dclk1^{tm240457(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	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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Gene: Dclk1 MGI:1330861

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

DSS Histology

X-ray

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dclk1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data