Gene Summary

Name:
doublecortin-like kinase 1
Synonyms:
Click-I,  Dcl,  Dcamkl1,  DCLK,  2810480F11Rik,  CPG16,  1700113D08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased anti-nuclear antigen antibody level Dclk1tm1a(EUCOMM)Wtsi HOM Early adult 1.00
increased anti-nuclear antigen antibody level Dclk1tm1a(EUCOMM)Wtsi HET Early adult 1.00
increased grip strength Dclk1tm1a(EUCOMM)Wtsi HOM Early adult 6.61×10-06
decreased body length Dclk1tm1a(EUCOMM)Wtsi HOM Early adult 6.80×10-05
increased grip strength Dclk1tm1a(EUCOMM)Wtsi HET Early adult 5.78×10-06
increased circulating aspartate transaminase level Dclk1tm1a(EUCOMM)Wtsi HOM Early adult 2.33×10-05
decreased circulating magnesium level Dclk1tm1a(EUCOMM)Wtsi HOM Early adult 1.31×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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

Anti-nuclear antibody assay

Images

22 Images

X-ray

XRay Images Forepaw

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

24 Images

DSS Histology

Images

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Skull Lateral Orientation

24 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

15 Images

Legacy Phenotype Associated Images

View all 179 images

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.

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 Similarity of
phenotypes
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.