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Gene: Bhlhe22 MGI:1930001

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

basic helix-loop-helix family, member e22

Synonyms:

Bhlhb5, Beta3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bhlhe22 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 Bhlhe22 (0 diseases)
Human diseases predicted to be associated with Bhlhe22 (677 diseases)

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

The table below shows human diseases predicted to be associated to Bhlhe22 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
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, Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Part...	OMIM:615771
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly	ORPHA:171703
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, ...	OMIM:611603
Congenital Factor Xii Deficiency	Retinal vein occlusion, Penetrating foot ulcers, Retinal arteriolar occlusion	ORPHA:330
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Aggressive behavior, Microcephaly, Simplified gyral pattern, Cerebral a...	OMIM:618492
Lissencephaly, X-Linked, 1	Ataxia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Spinocerebellar Ataxia 23	Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ...	OMIM:610245
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene...	OMIM:618286
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
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
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ...	ORPHA:572013
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Cortical dysplasia, Hydrocephalus, Attention deficit hyperactivity disorder...	OMIM:618709
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
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
Autosomal Recessive Spastic Paraplegia Type 67	Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:401820
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
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Gerstmann-Straussler-Scheinker Syndrome	Abnormal cerebellum morphology, Abnormal pyramidal tract morphology	ORPHA:356
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum	OMIM:605899
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly, Dysphagia	OMIM:619025
Myasthenic Syndrome, Congenital, 23, Presynaptic	Agenesis of corpus callosum	OMIM:618197
Spastic Paraplegia 2, X-Linked	Abnormal cerebellum morphology, Spinocerebellar tract degeneration, Degeneration of the lateral c...	OMIM:312920
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Gait ataxia	OMIM:616540
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:618325
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Usmani-Riazuddin Syndrome, Autosomal Recessive	Agenesis of corpus callosum, Aggressive behavior	OMIM:619548
Congenital Disorder Of Glycosylation, Type Iiy	Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:620200
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:274270
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella...	OMIM:218670
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal...	OMIM:618959
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Pontocerebellar Hypoplasia, Type 11	Ataxia, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Limb ataxia, Self-i...	OMIM:617695
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im...	OMIM:604360
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal repe...	OMIM:617862
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla...	OMIM:619301
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Neuropathy, Hereditary Sensory, Type Iic	Hypoesthesia, Impaired distal vibration sensation, Acral ulceration, Impaired distal proprioception	OMIM:614213
Foxg1 Syndrome	Choreoathetosis, Agenesis of corpus callosum, Progressive microcephaly, Hypoplasia of the corpus ...	ORPHA:561854
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal pyramidal tract mor...	ORPHA:206448
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Agenesis of corpus callosum	OMIM:307000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the cor...	ORPHA:300570
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology	ORPHA:83629
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, Skin ulcer	ORPHA:1117
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ...	OMIM:615282
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
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Microcephaly 16, Primary, Autosomal Recessive	Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly	OMIM:616681
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum	OMIM:619466
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior, Overfriendliness	OMIM:618010
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:453521
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Periventricular leukomalacia, Agenesis of corpus callosum	OMIM:618324
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy	OMIM:551500
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Intellectual Developmental Disorder With Autism And Speech Delay	Pachygyria, Abnormal repetitive mannerisms	OMIM:606053
Autosomal Dominant Spastic Paraplegia Type 41	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:320355
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum, Dry skin	ORPHA:2101
Microhydranencephaly	Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac...	OMIM:605013
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Microcephaly, Hydrocephalus, Simplified gyral pattern, Perive...	OMIM:619470
N-Acetylaspartate Deficiency	Microcephaly, Secondary microcephaly, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutila...	OMIM:614063
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Microcephaly, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repe...	OMIM:619150
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly	OMIM:618766
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
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum, Dysphagia	OMIM:619083
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, Truncal a...	OMIM:608636
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Autosomal Dominant Spastic Paraplegia Type 42	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171863
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Autosomal Recessive Primary Microcephaly	Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly	ORPHA:2512
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Autosomal Dominant Spastic Paraplegia Type 37	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171612
Glutathionuria	Dysdiadochokinesis, Agenesis of corpus callosum	OMIM:231950
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Microcephaly, Agenesis of corpus callosum, Aggressive behavior	OMIM:615286
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi...	OMIM:615095
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:2508
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis o...	OMIM:207950
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly	OMIM:620033
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia ne...	ORPHA:79243
Spastic Paraplegia 8, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:600363
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Retinopathy, Skin ulcer, Purpura	ORPHA:743
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel...	OMIM:600118
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Agenesis of corpus callosum	OMIM:610498
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Agenesis of corpus callosum, Dysmetria, Truncal ataxia	OMIM:250620
Autosomal Dominant Spastic Paraplegia Type 8	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100989
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia...	OMIM:616819
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Degeneration of t...	ORPHA:275872
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Acral ulceration, Abnormal autonomic nervous system ph...	ORPHA:139578
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Autosomal Dominant Spastic Paraplegia Type 19	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100999
Spastic Paraplegia 3, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:182600
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of...	OMIM:617820
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, Episodic ataxia, Agenesis o...	OMIM:312170
Autosomal Dominant Spastic Paraplegia Type 73	Degeneration of the lateral corticospinal tracts	ORPHA:444099
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
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Ataxia, Microcephaly	OMIM:245349
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Nonprogressive cerebellar ataxia, Primary microcephal...	ORPHA:466688
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Autosomal Dominant Spastic Paraplegia Type 38	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:171617
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ...	OMIM:614833
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Leukoenceph...	OMIM:619244
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
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
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Alobar holoprosencephaly	OMIM:615433
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Chorea, Cerebral atrophy, Gait ataxia, Self-injurious behavior, Progressive microcephaly, Compuls...	OMIM:618917
Spastic Paraplegia 4, Autosomal Dominant	Degeneration of the lateral corticospinal tracts	OMIM:182601
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Aplasia Cutis Congenita	Facial palsy, Skin ulcer	ORPHA:1114
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso...	OMIM:619320
Septooptic Dysplasia	Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Thin corpus callosum, Cerebral atrophy	OMIM:619690
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Gait ataxia, Abnormal repetitive mannerisms	OMIM:609425
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
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, D...	ORPHA:500144
Buerger Disease	Paresthesia, Skin ulcer	ORPHA:36258
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Impaired pain sensation, Dysesthesia, Impaired vibration sensation in the lower limbs, Skin ulcer...	OMIM:613640
Fg Syndrome 3	Hyperactivity, Agenesis of corpus callosum	OMIM:300406
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Microcephaly, Amish Type	Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri...	OMIM:607196
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Chorea, Athetosis, Cere...	OMIM:619435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly...	OMIM:615249
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus c...	OMIM:616362
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Choreoathetosis, Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Dysphagia,...	OMIM:617669
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Impaired pain sensation, Gait ataxia, Inappropriate behav...	ORPHA:1446
Narp Syndrome	Corticospinal tract atrophy	ORPHA:644
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microce...	OMIM:618906
4Q21 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Cerebellar ...	ORPHA:238750
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Reticular Dysgenesis	Failure to thrive, Skin ulcer, Weight loss	ORPHA:33355
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Degeneration of the lateral corticospinal tracts	OMIM:607259
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto...	ORPHA:370959
Flynn-Aird Syndrome	Rod-cone dystrophy, Skin ulcer, Cachexia	ORPHA:2047
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Attention de...	OMIM:619312
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation	OMIM:221770
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the pyramidal tract, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis o...	OMIM:253800
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Autosomal Dominant Spastic Paraplegia Type 12	Spinal cord lesion, Degeneration of the lateral corticospinal tracts	ORPHA:100993
Frontonasal Dysplasia 1	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph...	OMIM:136760
6Q25 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Christianson Syndrome	Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia, Inappropria...	ORPHA:85278
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss	ORPHA:312
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele, Agenesis of corpus callosum	ORPHA:521308
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Penetrating foot ulcers, Skin ulcer, Distal s...	ORPHA:36386
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Aggressive behavior, Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the...	ORPHA:481152
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th...	ORPHA:3157
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology	OMIM:215470
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Partial agenesis of the corpus callosum, Microcephaly	OMIM:618346
Cutis Laxa, Autosomal Recessive, Type Iib	Redundant skin, Microcephaly, Hydrocephalus, Lack of skin elasticity, Excessive wrinkled skin, Ag...	OMIM:612940
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ...	OMIM:613174
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:175700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Hydrocephalus, Inappropriate laughter, Cerebellar hypoplasia, Hyp...	OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Stereotypical hand wringing, Bruxism	OMIM:612337
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Immunodeficiency 49	Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume, Cutis laxa	OMIM:617237
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa...	OMIM:618718
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Abnormal repetitive mannerisms, Microcephaly	ORPHA:261144
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Microcephaly, Chorea, Attention deficit hyperactivity disorder, Abnormal periventricular ...	OMIM:619725
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Secondary microcephaly, Hypoplasia ...	OMIM:620073
Intellectual Developmental Disorder, Autosomal Recessive 65	Gait ataxia, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Aggressi...	OMIM:618109
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Choking episodes, Age...	OMIM:620352
Temtamy Syndrome	Thick corpus callosum, Agenesis of corpus callosum, Self-mutilation	OMIM:218340
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene...	OMIM:214150
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy, Ina...	OMIM:615802
Lopes-Maciel-Rodan Syndrome	Caudate atrophy, Bruxism, Cerebral atrophy, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Takayasu Arteritis	Retinopathy, Skin ulcer, Weight loss	ORPHA:3287
Classic Mycosis Fungoides	Erythema, Dry skin, Skin ulcer	ORPHA:2584
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Xq28 (MECP2) duplication	Microcephaly, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive mann...	DECIPHER:45
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Skin ulcer	ORPHA:352723
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum	OMIM:109120
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Dracunculiasis	Skin ulcer	ORPHA:231
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Microcephaly, Pica, Spina bifida occulta, Small cerebral cortex, Hypoplasia ...	OMIM:617360
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Polymicrogyria, Agenesis of c...	ORPHA:220497
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus callosum	ORPHA:85277
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Pallor, Agenesis of...	OMIM:609053
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Microcephaly, Tongue thrusting, Self-injurious behavior, Stereotypical body rockin...	ORPHA:261323
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, Attention defici...	OMIM:620141
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal...	ORPHA:228384
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesis o...	ORPHA:459061
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:990
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:616975
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Limited Cutaneous Systemic Sclerosis	Skin ulcer, Dysphagia	ORPHA:220402
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma...	ORPHA:899
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Birk-Landau-Perez Syndrome	Microcephaly, Limb ataxia, Choreoathetosis, Pachygyria, Agenesis of corpus callosum	OMIM:617595
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aggressive behavior	OMIM:620250
Adult Polyglucosan Body Disease	Ataxia, Skin ulcer, Distal sensory impairment	ORPHA:206583
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Polyarteritis Nodosa	Erythema, Skin ulcer, Weight loss	ORPHA:767
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d...	OMIM:618872
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Microcephaly, Inappropriate laughter, Abnormal repetitive mannerisms, Cere...	OMIM:614104
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
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
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Cor...	ORPHA:468631
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Agnathia-Otocephaly Complex	Agenesis of corpus callosum, Holoprosencephaly	OMIM:202650
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Polymicrogyria, Agenesis of c...	ORPHA:220493
Smith-Magenis Syndrome	Corticospinal tract hypoplasia, Failure to thrive in infancy, Obesity	ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Microcephaly, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms	OMIM:619092
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of...	OMIM:619720
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I...	OMIM:618929
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology, Atrophy/...	ORPHA:139399
Developmental And Epileptic Encephalopathy 64	Microcephaly, Chorea, Self-injurious behavior, Cerebellar hypoplasia, Hypoplasia of the corpus ca...	OMIM:618004
Free Sialic Acid Storage Disease	Athetosis, Ataxia, Skin ulcer	ORPHA:834
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Pol...	ORPHA:228402
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Abnormal cerebral white matter morphology, Hypo...	ORPHA:391307
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microcephaly, Gait ataxia, Hy...	OMIM:617807
Isolated Agammaglobulinemia	Failure to thrive, Skin ulcer	ORPHA:229717
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Attention deficit hyperactivity d...	OMIM:610042
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Baraitser-Winter Syndrome 1	Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly	OMIM:243310
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Emanuel Syndrome	Redundant neck skin, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matte...	ORPHA:96170
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Hypoplasia of the corpus callosum,...	ORPHA:363528
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Complex Regional Pain Syndrome	Erythema, Allodynia, Dry skin	ORPHA:83452
Brain-Lung-Thyroid Syndrome	Hyperactivity, Ataxia, Abnormal eating behavior, Microcephaly, Chorea, Abnormal drinking behavior...	ORPHA:209905
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of t...	OMIM:301056
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
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
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit...	OMIM:620292
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Gait ataxia, Thin corpu...	OMIM:619580
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Anorexia, Hyperintensity of cerebral white matter on MRI, ...	ORPHA:3008
Necrobiosis Lipoidica	Erythema, Skin ulcer	ORPHA:542592
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Brain Malformations With Or Without Urinary Tract Defects	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:613735
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss	ORPHA:86884
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Dry skin, Agenesis of corpus callosum	ORPHA:1812
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Chilblain Lupus	Skin ulcer	ORPHA:90280
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
16P13.11 Microdeletion Syndrome	Microcephaly, Self-injurious behavior, Holoprosencephaly, Compulsive behaviors, Agenesis of corpu...	ORPHA:261236
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,...	OMIM:619775
Brooke-Spiegler Syndrome	Facial palsy, Skin ulcer	ORPHA:79493
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer, Dandy-Walker malformation	ORPHA:2218
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Alexander Disease	Cerebral calcification, Ataxia, Megalencephaly, Aqueductal stenosis, Chorea, Hydrocephalus, Self-...	ORPHA:58
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Distal sensory impairment, Acral ulceration, Impaired distal tactile sensation, Impaired distal p...	OMIM:162400
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Truncal ataxia, Dysmetria, Hypopla...	OMIM:619121
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the...	OMIM:619512
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Chorea, Diff...	ORPHA:506
Machado-Joseph Disease Type 3	Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Substantia ...	ORPHA:276244
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Familial Multiple Nevi Flammei	Skin ulcer, Abnormal cranial nerve morphology	ORPHA:624
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Agenesis of corpus callosum, Compulsive behaviors, Aggressive behavior	OMIM:309520
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
Prolidase Deficiency	Abnormality of retinal pigmentation, Erythema, Dry skin, Skin ulcer	ORPHA:742
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
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata...	OMIM:607485
Fumarase Deficiency	Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Pallor, Polymicrogyri...	OMIM:606812
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Global brain atroph...	OMIM:617802
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Secondary microcephaly, Hypopla...	OMIM:620242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly,...	OMIM:236670
Ollier Disease	Skin ulcer	ORPHA:296
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Halperin-Birk Syndrome	Pseudobulbar paralysis, Agenesis of corpus callosum, Colpocephaly, Semilobar holoprosencephaly	OMIM:618651
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hyperactivity, Microcephaly, Aggressive behavior, Anencephaly, Agenesis of corpus ...	OMIM:619148
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Self-mut...	ORPHA:314621
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Kleefstra Syndrome	Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Cereb...	ORPHA:261494
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy...	OMIM:264480
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Microcephaly, Hair-pulling, Cerebral atrophy, Self-injurious behavio...	OMIM:616393
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop...	ORPHA:96147
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Curry-Jones Syndrome	Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ...	OMIM:601707
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Bohring-Opitz Syndrome	Microcephaly, Cutis laxa, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesi...	OMIM:605039
X-Linked Agammaglobulinemia	Failure to thrive, Skin ulcer, Weight loss	ORPHA:47
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Redundant neck skin, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus	ORPHA:3301
Neuropathy, Hereditary Sensory And Autonomic, Type V	Impaired vibratory sensation, Pain insensitivity, Impaired pain sensation, Impaired temperature s...	OMIM:608654
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation	OMIM:617296
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Simplified gyral pattern, Athetosis, Hypoplasia of the corpus callosum,...	OMIM:613454
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Secondary microcephaly, Cerebellar hypoplas...	OMIM:300986
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma...	OMIM:617600
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy, Periventri...	ORPHA:168491
Prolidase Deficiency	Failure to thrive, Petechiae, Skin ulcer	OMIM:170100
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp...	OMIM:243605
Microform Holoprosencephaly	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	ORPHA:280200
Basel-Vanagaite-Smirin-Yosef Syndrome	Aggressive behavior, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ...	ORPHA:464738
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ...	ORPHA:96092
Acrodermatitis Enteropathica	Failure to thrive, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:37
Werner Syndrome	Abnormality of retinal pigmentation, Slender build, Lack of skin elasticity, Skin ulcer	ORPHA:902
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Mosaic Variegated Aneuploidy Syndrome 1	Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Dandy-W...	OMIM:257300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia...	ORPHA:457284
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis	OMIM:612577
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Melas	Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Erythema, H...	ORPHA:550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Holoprosencephaly 14	Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag...	OMIM:619895
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas...	OMIM:618914
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Hypoplasia of the corpu...	OMIM:603671
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms, Dermal translucency	ORPHA:529965
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:250989
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Hydrocephalus, Redundant neck skin, Agenesis of corpus callosum	OMIM:123790
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Pancreatic Agenesis-Holoprosencephaly Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Fanconi Anemia, Complementation Group D2	Anemic pallor, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Attention deficit ...	OMIM:227646
Sotos Syndrome	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Attention deficit hyperactivity...	OMIM:117550
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Dysphagia	OMIM:300000
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum, Overfriendliness	OMIM:174300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261552
Lichen Planopilaris	Skin ulcer	ORPHA:525
Monosomy 13Q34	Agenesis of corpus callosum, Microcephaly	ORPHA:96168
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu...	OMIM:618500
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co...	OMIM:613457
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma...	ORPHA:79139
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Papa Syndrome	Skin ulcer	ORPHA:69126
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Sec...	OMIM:300912
Livedoid Vasculopathy	Skin ulcer, Ischemic stroke, Paresthesia, Hyperesthesia, Macular purpura, Ecchymosis	ORPHA:542643
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Giant Cell Arteritis	Optic atrophy, Skin ulcer, Weight loss	ORPHA:397
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Xp21 Deletion Syndrome	Agenesis of corpus callosum	ORPHA:261476
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Desmosterolosis	Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis	OMIM:617892
Granulomatosis With Polyangiitis	Retinal hemorrhage, Skin ulcer, Weight loss	OMIM:608710
Microscopic Polyangiitis	Abnormal retinal vascular morphology, Erythema, Skin ulcer	ORPHA:727
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms, Dermal translucency	OMIM:617682
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Cutis laxa, Spina bifida occulta, Agenesis of corpus ca...	OMIM:151050
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum	OMIM:616576
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Peroxisome Biogenesis Disorder 5A (Zellweger)	Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callos...	OMIM:614866
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis...	OMIM:277170
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Dry skin, Gait at...	ORPHA:33364
Calciphylaxis	Skin ulcer	ORPHA:280062
Dermatoosteolysis, Kirghizian Type	Skin ulcer	ORPHA:1657
Amoebiasis Due To Free-Living Amoebae	Restlessness, Ataxia, Abnormal basal ganglia morphology, Skin ulcer, Abnormal cerebral white matt...	ORPHA:68
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Acral ulceration	OMIM:201300
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum	ORPHA:420794
Opitz-Kaveggia Syndrome	Facial wrinkling, Partial agenesis of the corpus callosum, Hydrocephalus, Attention deficit hyper...	OMIM:305450
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Agenesis of corpus callosum, Scaling skin	OMIM:618419
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Reynolds Syndrome	Skin ulcer, Dysphagia	ORPHA:779
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of...	ORPHA:508498
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Acral ulceration, Decreased amplitude of sensory actio...	OMIM:256840
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum	ORPHA:48652
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Infantile Myofibromatosis	Skin ulcer	ORPHA:2591
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Eosinophilia, Skin ulcer	ORPHA:2314
Incontinentia Pigmenti	Retinal detachment, Abnormal chorioretinal morphology, Retinal vascular proliferation, Erythema, ...	ORPHA:464
Hydroxykynureninuria	Dry skin, Abnormal repetitive mannerisms	ORPHA:79155
Opitz Gbbb Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Dys...	ORPHA:2745
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer	ORPHA:659
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu...	OMIM:101200
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Attention deficit h...	ORPHA:2461
Hartsfield Syndrome	Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem...	OMIM:615465
Coffin-Siris Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Oral aversion, Agenes...	ORPHA:1465
Catastrophic Antiphospholipid Syndrome	Retinal arterial occlusion, Skin ulcer	ORPHA:464343
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Histiocytoid Cardiomyopathy	Hydrocephalus, Agenesis of corpus callosum, Pallor	ORPHA:137675
Hereditary Spherocytosis	Ataxia, Pallor, Skin ulcer	ORPHA:822
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce...	OMIM:602535
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer, Dysphagia	ORPHA:220393
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Acute Radiation Syndrome	Scaling skin, Skin ulcer	ORPHA:454831
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Immunoglobulin A Vasculitis	Erythema, Optic atrophy, Skin ulcer, Purpura	ORPHA:761
Infantile Systemic Hyalinosis	Failure to thrive, Skin ulcer	ORPHA:2176
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of the corpus callosum,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Hypoplasia of the corpus callosum,...	ORPHA:352665
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:304050
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Agenesis of corpus callosum	OMIM:242840
Joubert Syndrome 6	Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Chromosome 13Q14 Deletion Syndrome	Holoprosencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpu...	OMIM:613884
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Optic atrophy, Penetrating foot ulcers	ORPHA:99956
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Holoprosencephaly 1	Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c...	OMIM:236100
Juvenile Dermatomyositis	Erythema, Dry skin, Skin ulcer, Weight loss	ORPHA:93672
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:618748
Blau Syndrome	Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Erythema, Skin ul...	ORPHA:90340
Orofaciodigital Syndrome Type 1	Dry skin, Dandy-Walker malformation, Agenesis of corpus callosum, Ataxia	ORPHA:2750
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Redundant skin	ORPHA:2658
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Eosinophilia	ORPHA:486
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Hyperactivity, Self-mutilation, Acral ulceration	OMIM:256800
Blau Syndrome	Cystoid macular edema, Skin ulcer, Abnormal cranial nerve morphology	OMIM:186580
Dominant Beta-Thalassemia	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum	OMIM:613091
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619418
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Secondary microcephaly, Hypoplasia of the corpus callosum, Dysphagia...	ORPHA:447997
Jacobsen Syndrome	Spina bifida, Cerebral atrophy, Attention deficit hyperactivity disorder, Pachygyria, Agenesis of...	ORPHA:2308
Choreoacanthocytosis	Impaired vibratory sensation, Self-mutilation of tongue and lips due to involuntary movements, Hy...	ORPHA:2388
Cushing Disease	Increased body weight, Skin ulcer, Truncal obesity, Abdominal obesity, Ecchymosis, Optic nerve co...	ORPHA:96253
Bohring-Opitz Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc...	ORPHA:97297
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Microcephaly, Hydrocephalus, Inappropriate laughter, Hypoplasia of the corpus callo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Inappropriate laughter, Hypoplasia of the corpus callo...	ORPHA:363958
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer	ORPHA:1334
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer	ORPHA:1806
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Holoprosencephaly 9	Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis...	OMIM:610829
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Smith-Lemli-Opitz Syndrome	Hyperactivity, Diffuse cerebral atrophy, Dandy-Walker malformation, Aggressive behavior, Microcep...	OMIM:270400
Fusariosis	Abnormal retinal morphology, Skin ulcer	ORPHA:228119
Williams Syndrome	Failure to thrive in infancy, Atrophy/Degeneration involving the corticospinal tracts, Obesity, C...	ORPHA:904
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Limb ataxia, Skin ulcer, Hypoplasia of the corpus callosum, Abnormal temper tantru...	ORPHA:2072
Perlman Syndrome	Agenesis of corpus callosum	OMIM:267000
Beta-Thalassemia Major	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Pgm3-Cdg	Ataxia, Eosinophilia, Skin ulcer	ORPHA:443811
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Microcephaly, Polymicrogyria, Hydrocephalus, Leukoencephalopathy, Agenesis o...	OMIM:607872
Meckel Syndrome, Type 1	Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dandy-W...	OMIM:249000
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Semilobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha...	ORPHA:220386
Alobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha...	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dyspha...	ORPHA:93924
Juvenile Amyotrophic Lateral Sclerosis	Abnormal cerebellum morphology, Amyotrophic lateral sclerosis, Cachexia	ORPHA:300605
Chime Syndrome	Erythema, Retinal coloboma, Skin ulcer	ORPHA:3474
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Parkes Weber Syndrome	Somatic sensory dysfunction, Myelopathy, Skin ulcer, Distal sensory impairment, Scaling skin	ORPHA:90307
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Aggressive beha...	OMIM:619841
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology	OMIM:614298
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Abnormal cerebral white matter morphology, Hypoplasia of the corpus ca...	ORPHA:506358
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Ataxia, Microcephaly	ORPHA:280
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus	OMIM:300373
Toxic Epidermal Necrolysis	Polydipsia, Erythema, Skin ulcer, Dysphagia	ORPHA:537
Microgastria-Limb Reduction Defect Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Microphthalmia With Linear Skin Defects Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Erythema, Agenesis of corpus callosum	ORPHA:2556
Meige Disease	Skin ulcer	ORPHA:90186
Granulomatosis With Polyangiitis	Purpura, Retinopathy, Skin ulcer, Weight loss	ORPHA:900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Skin ulcer, Purpura	OMIM:615688
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Acrocallosal Syndrome	Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Wolf-Hirschhorn Syndrome	Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Hydrocephalus, Periventri...	OMIM:194190
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Abnormal pons morphology, Syringomyelia, Myelitis	ORPHA:1320
1P36 Deletion Syndrome	Microcephaly, Polyphagia, Self-injurious behavior, Agenesis of corpus callosum, Dysphagia, Abnorm...	ORPHA:1606
Rubinstein-Taybi Syndrome 1	Hyperactivity, Impulsivity, Microcephaly, Spina bifida, Hyperintensity of cerebral white matter o...	OMIM:180849
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dysphagia, Truncal ataxia, Premature skin wrinkling, Dry skin, Agenesis of corpus ...	OMIM:264090
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida	OMIM:619480
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Simp...	OMIM:220111
Holoprosencephaly 2	Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor...	OMIM:157170
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:168558
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Fryns Syndrome	Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-...	OMIM:229850
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Agenesis of corpus callosum	ORPHA:289548
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Yunis-Varon Syndrome	Redundant neck skin, Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Prima...	ORPHA:3472
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Erythema, Subcortical cerebral atrophy, Cerebellar hypopl...	ORPHA:2273
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Degcags Syndrome	Microcephaly, Oral-pharyngeal dysphagia, Pallor, Choking episodes, Agenesis of corpus callosum	OMIM:619488
Dyskeratosis Congenita	Skin vesicle, Cerebral calcification, Skin ulcer	ORPHA:1775
Neu-Laxova Syndrome 1	Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes...	OMIM:256520
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Lack of skin elasticity, Skin ulcer, Decreased body weight, ...	ORPHA:79474
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Erythema, Spina bifida occulta, Agenesis of corpus callosu...	OMIM:218600
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene...	ORPHA:95494
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Wiedemann-Rautenstrauch Syndrome	Ataxia, Hydrocephalus, Cerebellar hypoplasia, Truncal ataxia, Premature skin wrinkling, Polymicro...	ORPHA:3455
Coffin-Siris Syndrome 1	Microcephaly, Aggressive behavior, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplas...	OMIM:135900
Hajdu-Cheney Syndrome	Failure to thrive, Skin ulcer, Dry skin	ORPHA:955
Dermatomyositis	Erythema, Dry skin, Skin ulcer, Weight loss	ORPHA:221
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit...	ORPHA:261537
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Ataxia, Diffuse leukoencephalopathy, Distal sensory impairment, Painless frac...	OMIM:256810
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Oculocerebrorenal Syndrome Of Lowe	Skin ulcer, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord...	ORPHA:534
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer	ORPHA:2907
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Petechiae, Skin ulcer, Purpura	ORPHA:906
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Systemic Sclerosis	Acral ulceration, Digital ulcer, Dysphagia	ORPHA:90291
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Primary Sjögren Syndrome	Abnormality of the peripheral nervous system, Skin ulcer, Optic neuritis, Dry skin, Purpura	ORPHA:289390
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Aggressive...	OMIM:620330
Mowat-Wilson Syndrome	Focal cortical dysplasia, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Mi...	ORPHA:2152
Simple Cryoglobulinemia	Purpura, Paresthesia, Acral ulceration, Spontaneous pain sensation	ORPHA:91139
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
Leprosy	Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Penetrating foot ulcers, P...	ORPHA:548
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum	ORPHA:3243
Malakoplakia	Skin ulcer	ORPHA:556
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Chronic Graft Versus Host Disease	Anorexia, Erythema, Skin ulcer, Dysphagia, Skin vesicle	ORPHA:99921
Peters-Plus Syndrome	Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Cushing Syndrome Due To Ectopic Acth Secretion	Increased body weight, Skin ulcer, Weight loss, Truncal obesity, Abdominal obesity, Ecchymosis, S...	ORPHA:99889
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Redundant neck skin, Microcephaly, Hypoplasia of the frontal lobes,...	OMIM:216340
Plague	Dry skin, Skin ulcer, Anorexia	ORPHA:707
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Skin ulcer, Anorexia, Oral-pharyngeal dysphagia	ORPHA:95455
Townes-Brocks Syndrome	Agenesis of corpus callosum	ORPHA:857
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr...	ORPHA:573278
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Leukocyte Adhesion Deficiency	Pyoderma gangrenosum, Cerebral atrophy, Microcephaly	ORPHA:2968

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 Bhlhe22

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 Bhlhe22.

No publications found that use IMPC mice or data for Bhlhe22.

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MGI Allele	Allele Type	Produced
Bhlhe22^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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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