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Gene: Napa MGI:104563

Registered for phenotyping at IMPC

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

Gene Summary

Name:

N-ethylmaleimide sensitive fusion protein attachment protein alpha

Synonyms:

hyh, SNAPA, a-SNAP, RA81, 1500039N14Rik, SNARE

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 Napa 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 Napa (0 diseases)
Human diseases predicted to be associated with Napa (904 diseases)

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

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

Disease	Matching phenotypes	Source
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Limb ataxia, Hand t...	OMIM:607596
Spastic Paraplegia 88, Autosomal Dominant	Agenesis of cerebellar vermis, Unsteady gait, Sensory ataxia, Distal sensory impairment, Hypoplas...	OMIM:620106
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder...	OMIM:618709
Leukoencephalopathy With Vanishing White Matter 5	Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ...	OMIM:620315
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Leukoencephalopathy, Hand tremor, Lateral ventricle dilatation, Dysto...	OMIM:615889
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Progressive microcepha...	OMIM:617862
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the brainstem, Cerebellar hypoplasi...	OMIM:618266
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ...	ORPHA:77299
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Microcephaly, Chorea, Attention deficit hyperactivity disorder, Dystonia,...	OMIM:619725
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Scissor gait, Lateral ventricle dilatation, Dilated thi...	ORPHA:363654
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha...	OMIM:221770
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the co...	ORPHA:79243
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v...	OMIM:613443
Lissencephaly 3	Agyria, Ataxia, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the brainstem, Lissence...	OMIM:611603
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal...	OMIM:614019
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification, Ataxia	ORPHA:99966
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Tremor, Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy	ORPHA:306669
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L...	OMIM:608629
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Cach Syndrome	Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Cerebellar vermis atrophy, Truncal ata...	ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ...	OMIM:613154
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia	ORPHA:101071
Autosomal Recessive Spastic Paraplegia Type 66	Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ...	ORPHA:401815
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Microcephaly, Tremor, Aggressive behavior, Hydrocephalus, Simpli...	OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Lateral ventricle dilatation, Pontocere...	OMIM:617854
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy...	ORPHA:1532
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Reduced cerebral white matter volume, Inability to walk, Hydrocephalus, Hypoplasia of the...	OMIM:618174
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at...	OMIM:619244
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Microcephaly, Aggressive behavior, Chorea, Bruxism, Falls, Inappropriate laughter, Dyston...	OMIM:619150
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent...	OMIM:617751
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi...	OMIM:618736
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Cerebellar hypoplasia, Hy...	ORPHA:488635
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor...	OMIM:617668
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t...	OMIM:619302
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Gait ataxi...	OMIM:618606
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens...	ORPHA:565624
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Periventricular leukomalacia, Impulsivity, Microcephaly, Aggressiv...	ORPHA:500055
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair...	ORPHA:99947
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp...	OMIM:615574
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Distal sensory impai...	OMIM:256850
Fried Syndrome	Cerebral calcification, Aggressive behavior, Abnormal cerebellum morphology, Hydrocephalus, Gait ...	ORPHA:85335
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Cerebral atr...	ORPHA:314404
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Joubert Syndrome 31	Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly, Truncal ataxia	OMIM:617761
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation, Tip-toe ...	OMIM:617296
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Aggressive be...	ORPHA:572798
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Impulsivity, Megalencephaly, Hypoplasia of the pons, Microcephaly, ...	ORPHA:280195
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy...	ORPHA:2524
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Inability to walk, Lateral ventricle dilatation, Bruxism, Thin corpus callosum	OMIM:615716
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se...	ORPHA:544488
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Absent septum p...	ORPHA:397715
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst...	OMIM:620317
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, S...	ORPHA:208447
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Martsolf Syndrome 2	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:619420
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort...	OMIM:615191
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc...	ORPHA:73256
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of...	OMIM:616602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce...	OMIM:613153
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Masa Syndrome	Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Inabili...	ORPHA:599373
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cereb...	ORPHA:363717
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Epi...	ORPHA:420179
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem mo...	ORPHA:467166
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus...	ORPHA:488627
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha...	ORPHA:284417
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axi...	OMIM:618291
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid...	OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Atrophy of the spinal cord, Inability to walk, Hype...	ORPHA:2822
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo...	OMIM:304100
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Syringo...	OMIM:207950
Masa Syndrome	Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2466
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene...	OMIM:618286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Inability to walk, Hydrocephalus, Hypoplasia of the b...	OMIM:613155
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ventric...	OMIM:619575
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:617090
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation...	OMIM:614219
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Microcephaly, In...	ORPHA:356961
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Abnormal dentate nucleus morphology, Increased CSF protein conc...	OMIM:203450
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Oculogyric crisis, Microcephaly, Inability to walk, Chorea, Bruxism, Cerebral...	OMIM:614254
Spinocerebellar Ataxia Type 2	Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Abnormal co...	ORPHA:98756
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly, Gait ataxia	OMIM:616540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Hydrocephalus, Type II lissencephaly, Ventriculomegaly	OMIM:614830
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate,...	OMIM:616034
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, I...	OMIM:617695
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Pettigrew Syndrome	Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Basal ga...	OMIM:304340
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o...	OMIM:620200
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:610688
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Inability to walk, Unsteady gait, Simplified gyral pattern, Thick c...	OMIM:618273
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral ventricle dilatat...	ORPHA:464738
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:166024
Hemangioblastoma	Cerebellar edema, Dysesthesia, Hydrocephalus, Spinal hemangioblastoma, Cerebellar hemangioblastoma	ORPHA:252054
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Christianson Syndrome	Cerebellar atrophy, Dystonia, Microcephaly, Dysphagia, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:85278
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata...	OMIM:607485
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebel...	ORPHA:255138
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Gait disturbance, Microcephaly	ORPHA:26
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Cerebellar vermis hypoplasia, Reduced cerebral white matter volume, Microcephal...	OMIM:617807
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan...	OMIM:617622
Cog5-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Atroph...	ORPHA:263487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of the brainstem, Cerebell...	OMIM:615181
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Microcephaly, Chorea, Cerebral atrophy, Dysphagia, Athetosis, Self-...	OMIM:617493
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Self-mutilation, Cerebral atrophy, Microcephaly	OMIM:300884
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic plei...	OMIM:610333
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior...	OMIM:620075
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Partial agenesis of the cor...	OMIM:304050
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l...	OMIM:610245
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220497
Glutaric Acidemia I	Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia	OMIM:231670
Adult Krabbe Disease	Increased CSF protein concentration, Somatic sensory dysfunction, Abnormal medulla oblongata morp...	ORPHA:206448
Microhydranencephaly	Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac...	OMIM:605013
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Aggressive behavior, Inability to walk, Simplified gyral ...	OMIM:618492
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissen...	ORPHA:324416
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Type II ...	ORPHA:370959
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor...	OMIM:614105
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Dand...	ORPHA:3078
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Cerebellar hypoplasia	OMIM:617562
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas...	OMIM:618914
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Hypoplas...	OMIM:610015
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ve...	ORPHA:457279
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,...	ORPHA:2148
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal brainstem mo...	ORPHA:163961
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
N-Acetylaspartate Deficiency	Broad-based gait, Microcephaly, Unsteady gait, Secondary microcephaly, Truncal ataxia, Abnormal r...	OMIM:614063
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Chorea, Disinhibition, Cerebral cortical atrophy, Ventricu...	ORPHA:2770
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Ataxia, Head titubation, Abnormal brainstem morphology, Cerebellar cyst...	ORPHA:370022
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydran...	OMIM:225790
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol...	ORPHA:220493
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrosp...	OMIM:616900
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder, Chiari malformation	ORPHA:261102
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Hydrocephalus...	OMIM:614424
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
1Q21.1 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder	ORPHA:250994
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Microcephaly, Cerebral atrophy, Opisthotonus, Dysphagia, Lateral ventricle dilatat...	OMIM:619847
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Microcephaly, Inability to walk, Chorea, Bruxism, Self-injurious behavior, C...	OMIM:618004
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation	OMIM:249400
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria	OMIM:614870
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dystonia, ...	ORPHA:357058
Foxg1 Syndrome	Abnormal repetitive mannerisms, Inability to walk, Bruxism, Stereotypical hand wringing, Choreoat...	ORPHA:561854
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem...	OMIM:608091
Distal Deletion 10Q	Ataxia, Microcephaly, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Cerebella...	ORPHA:96148
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Cerebral atrophy, Thin corpus callosum, Polyphagia, Self-muti...	OMIM:616521
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Microcephaly, Tremor, Inability to walk, Stereotypical hand wringing, Lateral ventricle d...	OMIM:619229
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Increased CSF protein concentration, Abnormal...	ORPHA:79139
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu...	OMIM:609583
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A...	OMIM:616362
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:2318
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Microcephaly, Aggressive behavior, Inability to walk, Pa...	OMIM:619580
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Stereotypical hand ...	OMIM:618917
Central Precocious Puberty In Male	Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Attention deficit hyperactivity disor...	ORPHA:649929
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Intention tremor	OMIM:619995
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Brainstem ...	OMIM:213300
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria, Ataxia	OMIM:617757
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Pachygyria, Abnormal repetitive mannerisms	OMIM:606053
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia,...	OMIM:618476
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnorm...	ORPHA:68
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Hydrocephalu...	OMIM:609757
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small pituitary gland, Hypopla...	OMIM:619479
Joubert Syndrome 7	Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI,...	OMIM:611560
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Gait disturbance	ORPHA:275543
Ravine Syndrome	Ataxia, Anorexia, Abnormal brainstem morphology, Abnormal basal ganglia morphology, Atrophy/Degen...	ORPHA:99852
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar v...	ORPHA:98755
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, T2 hypointense basal gangli...	ORPHA:25
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Dysphagia, Extra-axial cerebrospi...	OMIM:617669
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Abnor...	ORPHA:228384
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Basal ganglia cys...	OMIM:312170
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Typ...	ORPHA:272
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Sp...	ORPHA:2356
Choreoacanthocytosis	Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto...	ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:218350
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebral calcification, Cerebellar vermis hypoplasia, Hyperactivity...	OMIM:617281
4Q21 Microdeletion Syndrome	Tremor, Agenesis of corpus callosum, Self-injurious behavior, Cerebellar hypoplasia, Abnormal rep...	ORPHA:238750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618577
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cer...	ORPHA:453521
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly	OMIM:617563
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Hydrocephalus, Cerebral atrophy, Opisthotonus, Choreoathetosis, H...	OMIM:614969
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:397951
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Bruxism, Cerebral atrophy, Dysphagia,...	OMIM:617435
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Hypoplasia of the corpus callosum, Dystonia, Abnormal...	OMIM:617820
Bainbridge-Ropers Syndrome	Microcephaly, Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasi...	OMIM:615485
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Cortical dysplasia, Lateral ventricle dilatation, Tip-toe gait, Attention ...	OMIM:617557
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Decreased response to growth hormone stimulation test, Microcephaly, Aggressive be...	OMIM:615286
Joubert Syndrome 15	Molar tooth sign on MRI, Ataxia, Exencephaly	OMIM:614464
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ataxia, Microcephaly, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, ...	OMIM:619833
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly, Aplasia/Hypoplasia of the cerebe...	ORPHA:588
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Microcephaly, Hydrocephalus, Agitation	OMIM:300558
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Microcephaly, Hypoplasia of the corpus callosum, Dystonia, Dif...	ORPHA:280763
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric...	OMIM:611209
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Dystonia	OMIM:252650
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Chorea, Mild fetal vent...	OMIM:619435
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
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
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
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Hypoplasi...	OMIM:619121
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Cere...	ORPHA:168486
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:858
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Dysphagia, Increased C...	ORPHA:500144
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m...	ORPHA:293725
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C...	OMIM:619487
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ...	OMIM:615282
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Microcephaly, Lateral ventricle dilatation, Hyp...	OMIM:618367
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ven...	ORPHA:85277
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Secondary microcephaly	OMIM:617830
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matte...	OMIM:272200
Holoprosencephaly 14	Cerebellar atrophy, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Micr...	OMIM:619895
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Hypoplasia of the corpus callosum	ORPHA:1516
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Compulsive behaviors, Attention defi...	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar ...	OMIM:613150
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G...	OMIM:300486
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Neural Tube Defects, Susceptibility To	Hydrocephalus, Spina bifida occulta, Anencephaly, Myelomeningocele	OMIM:182940
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callos...	ORPHA:500159
Superficial Siderosis	Cerebellar atrophy, Enlarged sylvian cistern, Ataxia, Abnormal cerebrospinal fluid morphology, Im...	ORPHA:247245
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi...	OMIM:619306
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Th...	OMIM:619690
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior	OMIM:614970
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Joubert Syndrome 27	Molar tooth sign on MRI, Ataxia, Gait ataxia	OMIM:617120
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At...	OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Gait ataxia, Abnormal repetitive mannerisms	OMIM:609425
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Opisthotonus, Colpocephaly, Secondary microcephaly, Choking...	OMIM:620352
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Stereotypical hand wringing, ...	OMIM:619179
Medulloblastoma	Ataxia, Cerebellar calcifications, Hydrocephalus, Spinal cord tumor, Dysmetria, Progressive cereb...	ORPHA:616
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
47,Xyy Syndrome	Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Abnormal bra...	ORPHA:8
Pallister-Hall-Like Syndrome	Occipital encephalocele, Microcephaly, Hydrocephalus, Chiari type I malformation, Hypothalamic ha...	OMIM:241800
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph...	OMIM:253800
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia...	ORPHA:370997
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Joubert Syndrome 33	Molar tooth sign on MRI, Ataxia	OMIM:617767
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Abnormal cerebral white matter m...	ORPHA:395
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Weaver Syndrome	Absent septum pellucidum, Lateral ventricle dilatation, Cerebellar hypoplasia, Polyphagia, Ventri...	OMIM:277590
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Intellectual Developmental Disorder, Autosomal Dominant 70	Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Hypoplasia of th...	OMIM:620157
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Aplasia/Hypoplasia of...	ORPHA:475
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Microcephaly, Tremor, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/...	ORPHA:1908
Joubert Syndrome 28	Molar tooth sign on MRI, Ataxia	OMIM:617121
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Tremor, Dysplastic corpus callosum, Hypoesthesia, Secondary microce...	OMIM:619737
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Joubert Syndrome 22	Molar tooth sign on MRI, Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of ...	OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Agyria, Type II lissencephaly, Pachygyria, Hydrocephalus, Partial agenesis of the ...	OMIM:614643
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell...	ORPHA:251937
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Hydrocephalus, Tethered cord, Microcephaly	OMIM:617244
Alexander Disease	Cerebral calcification, Ataxia, Megalencephaly, Aqueductal stenosis, Tremor, Hydrocephalus, Chore...	ORPHA:58
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	ORPHA:177907
Lhermitte-Duclos Disease	Enlarged cerebellum, Hydrocephalus, Polymicrogyria, Ataxia	ORPHA:65285
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly	OMIM:615637
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Ataxia	ORPHA:2720
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, ...	ORPHA:444072
Optic Atrophy 11	Hyperactivity, Ataxia, Microcephaly, Gait apraxia, Leukoencephalopathy, Dysmetria, Athetosis, Ste...	OMIM:617302
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly	OMIM:620033
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, A...	ORPHA:314621
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Aggressive be...	ORPHA:83597
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia...	OMIM:616546
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Onychotillomania, Abnormal re...	OMIM:182290
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Abnormal septum pellucidum morphology, Hydrocephalus, Chiari malformation, Cerebral atrophy	ORPHA:171839
Dural Sinus Malformation	Somatic sensory dysfunction, Ataxia, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, H...	ORPHA:97339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the corpus cal...	OMIM:616538
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Anorexia, Tremor, Cerebellar gliosis, Periventricular cysts, Subep...	ORPHA:3008
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Diabetic Embryopathy	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi...	ORPHA:1926
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation	ORPHA:93262
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Walker-Warburg Syndrome	Dandy-Walker malformation, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hy...	ORPHA:899
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial ...	OMIM:619512
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Ventric...	ORPHA:60040
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Houge-Janssens Syndrome 3	Microcephaly, Self-injurious behavior, Hypoplasia of the brainstem, Hypoplasia of the corpus call...	OMIM:618354
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Temple Syndrome	Hydrocephalus, Polyphagia, Decreased response to growth hormone stimulation test	ORPHA:254516
Lennox-Gastaut Syndrome	Falls, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior	ORPHA:2382
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morphology, Abnormal pons ...	OMIM:300868
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Proximal 16P11.2 Microdeletion Syndrome	Choreoathetosis, Chiari type I malformation, Syringomyelia, Attention deficit hyperactivity disor...	ORPHA:261197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Type II lissencephaly, Microcephaly, Pachygyria, Meningoencephal...	OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Peho Syndrome	Cerebellar atrophy, Microcephaly, Hydrocephalus, Porencephalic cyst, Atrophy/Degeneration affecti...	ORPHA:2836
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Syringomyelia, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:613735
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malfo...	ORPHA:268810
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Diffuse cerebral atrophy	OMIM:245200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesis o...	ORPHA:459061
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ...	OMIM:216360
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar h...	ORPHA:1647
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnorma...	OMIM:618718
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Infantile Sialic Acid Storage Disease	Hydrocephalus, Cerebral atrophy	OMIM:269920
Cerebellofaciodental Syndrome	Microcephaly, Hypoplasia of the pons, Aggressive behavior, Cerebellar hypoplasia, Hypoplasia of t...	OMIM:616202
Arachnoiditis	Hydrocephalus, Paresthesia	ORPHA:137817
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:619869
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal repetitive ma...	OMIM:618205
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Microcephaly, Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping, Ventriculo...	OMIM:617903
Oxoglutaric Aciduria	Hydrocephalus, Ataxia	ORPHA:31
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Unsteady ...	ORPHA:637
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Gait disturbance, Microcephaly	OMIM:613330
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Abnormal repetitive manneri...	OMIM:615802
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of ...	OMIM:243910
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Difficulty walking, Secondary microcephaly, Cerebral atrophy	OMIM:617393
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Cerebellar hypoplasia	ORPHA:207
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Inability to walk, Occipital cortical atrophy, Hypoplasia of the corpus c...	ORPHA:411986
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Tethered cord, Impulsivity, Microcephaly, Aggressive behavior, Myelomeningocele, A...	OMIM:620141
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Co...	OMIM:609053
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu...	ORPHA:1812
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto...	OMIM:600795
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Tetrasomy 15Q26	Hydrocephalus, Syringomyelia, Dandy-Walker malformation	OMIM:614846
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen...	OMIM:614833
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Tremor, Gait disturbance, Ab...	ORPHA:457240
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ventric...	ORPHA:10
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperin...	ORPHA:79264
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Halperin-Birk Syndrome	Inability to walk, Colpocephaly, Pseudobulbar paralysis, Agenesis of corpus callosum, Ventriculom...	OMIM:618651
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hy...	OMIM:614576
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst...	ORPHA:2169
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Xq28 (MECP2) duplication	Microcephaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Abnor...	DECIPHER:45
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the...	OMIM:620305
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Tethered cord, Ataxia, Microcephaly, Inability to walk, Colpocephal...	OMIM:620083
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Microcephaly, Gait disturbance, Inappropriate laughter, Abnormal repetitiv...	OMIM:614104
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Pachygyria	OMIM:263520
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Microcephaly, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive manner...	OMIM:619092
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex morphology	ORPHA:411493
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Cortic...	ORPHA:468631
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Aplasia/Hyp...	ORPHA:1454
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:261344
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum	OMIM:619185
Rabin-Pappas Syndrome	Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebellar hypop...	OMIM:620155
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit...	ORPHA:168491
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Cerebral calcification	ORPHA:3035
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
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
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Griscelli Syndrome	Encephalocele, Hydrocephalus, Ataxia	ORPHA:381
Plasminogen Deficiency, Type I	Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	OMIM:618347
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait dis...	ORPHA:2754
Emanuel Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Chiari ...	ORPHA:96170
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Opisthotonus, Microcephaly	OMIM:614098
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Smith-Magenis Syndrome	Microcephaly, Impaired pain sensation, Aplasia/Hypoplasia of the corpus callosum, Self-injurious ...	ORPHA:819
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac...	OMIM:301029
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Tenorio Syndrome	Hydrocephalus, Gait disturbance, Cavum septum pellucidum, Cerebral cortical atrophy, Ventriculome...	OMIM:616260
Cerebral Visual Impairment	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Ischemic stroke, Abnormal...	ORPHA:447788
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Ataxia, Myelopathy, Abnormal spinal cord morphology, Inability to walk, Dysmetria,...	ORPHA:139396
Fg Syndrome Type 1	Broad-based gait, Abnormal cerebellum morphology, Hydrocephalus, Aplasia/Hypoplasia of the corpus...	ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o...	OMIM:300896
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Secondary microcephaly, Cerebellar hypoplas...	OMIM:300986
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Ataxia	OMIM:612291
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia	ORPHA:163966
Familial Acute Necrotizing Encephalopathy	Increased CSF protein concentration, Abnormal brainstem MRI signal intensity, Abnormal putamen mo...	ORPHA:88619
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Emanuel Syndrome	Torticollis, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosum, Da...	OMIM:609029
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker malformation	OMIM:220210
Fanconi Anemia, Complementation Group B	Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:300514
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Periventricular leukomalacia, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Ab...	ORPHA:500150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp...	OMIM:618590
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel...	OMIM:610188
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Microcephaly, Polyphagia, Self-injurious behavior, Abnormal repetitive man...	ORPHA:228402
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum,...	ORPHA:457284
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Molar tooth sign on MRI...	OMIM:277170
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Microcephaly	ORPHA:2065
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Phelan-Mcdermid Syndrome	Broad-based gait, Microcephaly, Impaired pain sensation, Aggressive behavior, Tongue thrusting, U...	OMIM:606232
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Gorlin Syndrome	Hydrocephalus, Cerebral calcification	ORPHA:377
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, Addictive alcohol use,...	ORPHA:90065
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
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
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Hydrocephalus, Lissencephaly, Dandy-Walker malformation	OMIM:612938
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Microcephaly, Tremor, Aggressive behavior, Agenesis of corpus callosum, Gait...	OMIM:619312
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Microcephaly, Repetitive compulsive behavior, Compulsive behaviors, Attention defi...	ORPHA:352490
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Megalencephaly, Thick corpus callosum, Gait atax...	OMIM:617011
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Hypoplasia of the corpus c...	OMIM:617802
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy...	OMIM:264480
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Bresek Syndrome	Hydrocephalus, Microcephaly	ORPHA:85284
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Temple Syndrome	Hydrocephalus	OMIM:616222
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia	OMIM:614615
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Macrogyria, Li...	ORPHA:35107
Lateral Meningocele Syndrome	Tethered cord, Hydrocephalus, Meningocele, Dural ectasia, Chiari type I malformation, Syringomyelia	OMIM:130720
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus cal...	OMIM:251230
6Q Terminal Deletion Syndrome	Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Cerebellar hypop...	ORPHA:75857
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Abnormal substantia nigra morphology, Ataxia, Generalized dystonia, Postural tremor,...	ORPHA:98808
Mosaic Variegated Aneuploidy Syndrome 1	Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Cerebral hypoplasia, Cerebella...	OMIM:257300
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Cerebral white...	ORPHA:168577
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia	OMIM:619562
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Gait disturbance, Com...	ORPHA:93256
Congenital Sialidosis Type 2	Hydrocephalus, Ataxia, Dysmetria	ORPHA:93400
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:3376
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Sturge-Weber Syndrome	Cerebral calcification, Hydrocephalus, Chiari malformation, Attention deficit hyperactivity disor...	ORPHA:3205
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Tethered cord, Microcephaly, Colpocephaly, Dysphagia, Ventriculomegaly	OMIM:618460
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cere...	OMIM:249000
Spondylocostal Dysostosis 4, Autosomal Recessive	Chiari type II malformation, Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:613686
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventri...	ORPHA:87
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv...	ORPHA:261537
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Paresthesia	ORPHA:79279
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Aggressive behavior, Hydrocephalus, Polymicrogyria, Self-mutilation, Polyphagia, Le...	OMIM:607872
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait	ORPHA:2839
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Unsteady gait, Polyphagia, Simp...	ORPHA:96121
16Q24.3 Microdeletion Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia	ORPHA:261250
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Chiari malformation	ORPHA:93260
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Increased CSF lactate	OMIM:604273
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Whipple Disease	Hydrocephalus, Polydipsia, Ataxia, Anorexia	ORPHA:3452
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:7
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Microcephaly	OMIM:615541
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s...	OMIM:619476
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Myelopathy, Gait ataxia, Chiari type I malformation, Br...	ORPHA:268882
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Microcephaly, Repetitive compulsive behavior, Chorea, Inability to wa...	OMIM:300260
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Syr...	ORPHA:63259
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Stromme Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of cor...	OMIM:243605
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Macrogyria, Athetosis, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agene...	OMIM:614866
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar...	OMIM:618820
Desmosterolosis	Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:602398
Monosomy 18Q	Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Choreoathetosis, Cerebellar hypo...	ORPHA:1600
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
Dentici-Novelli Neurodevelopmental Syndrome	Microcephaly, Inability to walk, Simplified gyral pattern, Abnormal repetitive mannerisms, Thin c...	OMIM:619877
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Tetrasomy 5P	Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia	ORPHA:3309
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Ataxia, Microcephaly	ORPHA:220295
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Pitt-Hopkins Syndrome	Microcephaly, Gait ataxia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the cor...	OMIM:610954
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab...	OMIM:600430
Meningioma	Enlarged pituitary gland, Ataxia, Reduced circulating prolactin concentration, Neoplasm of the an...	ORPHA:2495
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:614886
Distal Triplication 15Q	Hydrocephalus, Syringomyelia, Dandy-Walker malformation	ORPHA:314588
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Abnormal repetitiv...	ORPHA:261552
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of ...	OMIM:620073
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Chiari malformation, Attention deficit hyperactivity disorder, Abnormal r...	OMIM:619293
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal...	ORPHA:457359
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal...	ORPHA:54595
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Pachygyr...	ORPHA:572013
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Microcephaly, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereot...	ORPHA:513456
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L...	OMIM:610828
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Thin corpus callosum, Dysphagia, Pachygyr...	OMIM:619777
Thanatophoric Dysplasia, Type I	Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Rett Syndrome	Dystonia, Inability to walk, Stereotypical hand wringing, Increased CSF lactate, Agitation, Gait ...	ORPHA:778
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms	OMIM:618067
Holoprosencephaly	Encephalocele, Microcephaly, Hydrocephalus, Chorea, Spinal cord tumor, Spinal dysraphism, Aplasia...	ORPHA:2162
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Microcephaly, Head tremor, Abnormal repetitive mannerisms, Cerebral cortical atrophy	OMIM:619428
15Q Overgrowth Syndrome	Hydrocephalus, Syringomyelia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Attention deficit hyperactivity d...	OMIM:610042
Monosomy 9Q22.3	Hyperactivity, Hydrocephalus, Chiari malformation, Calcification of falx cerebri, Ventriculomegaly	ORPHA:77301
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Kleefstra Syndrome	Microcephaly, Aggressive behavior, Self-mutilation, Agenesis of corpus callosum, Self-injurious b...	ORPHA:261494
Lowry-Maclean Syndrome	Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hy...	OMIM:253280
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Abnormal repetitive mannerisms, Agitation, Ataxia, Microcephaly	ORPHA:927
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit...	OMIM:620292
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:616300
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus tract, Hy...	OMIM:600145
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Decreased response to growth hormone stimulation test, Hydrocephalus, Distal ...	OMIM:616007
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Chromosome 5P13 Duplication Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Compulsive ...	OMIM:613174
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Secondary microcephaly, Hypopla...	OMIM:620242
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Da...	OMIM:605627
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Impaired pai...	ORPHA:293987
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Leukoencephalopathy, Cerebral at...	ORPHA:79282
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Dural ectasia	OMIM:616914
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Simplified gyral pattern, Bruxism, Athetosis, Hypoplasia of the corpus ...	OMIM:613454
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1834
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Ataxia, Attention deficit hyperactivity disorder, Abnormal thalamu...	ORPHA:435638
Trisomy 17P	Hydrocephalus, Microcephaly	ORPHA:261290
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Inability to walk, Hydroceph...	ORPHA:220386
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Ag...	OMIM:151050
Multiple Sulfatase Deficiency	Hydrocephalus, Microcephaly	ORPHA:585
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Chiari type I malformation, Cerebellar h...	OMIM:101200
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Periventricular leukomalacia	ORPHA:974
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Genitopalatocardiac Syndrome	Hydrocephalus, Microcephaly	ORPHA:2075
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Cervical cord compression	OMIM:309900
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Microcephaly, Ventriculomegaly, Megalencephaly	OMIM:613603
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:250989
Achondroplasia	Brain stem compression, Hydrocephalus, Megalencephaly	OMIM:100800
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma...	OMIM:617600
Mucopolysaccharidosis Type 3	Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Hydrocephalus, Disinhibition, Gait di...	ORPHA:581
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Microcephaly, Tremor, Aggressive behavior, Self-injurious behavior, Compulsiv...	OMIM:617061
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Sec...	OMIM:300912
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Periventricular leukomalacia, Tics, Attention deficit hyperactivi...	OMIM:617808
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Restrictive behavio...	OMIM:619475
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Hypoplasia of the corpus callosum, Megalencephaly	OMIM:616482
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Microcephaly, Spina bifida, Diffuse cerebral atrophy	OMIM:613776
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Microcephaly, Hypoplasia of the corpus callosum, Abnorm...	OMIM:610883
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation, Microcephaly	OMIM:147920
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Age...	OMIM:614924
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:2166
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal...	ORPHA:477993
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Attention deficit h...	ORPHA:2461
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thick corpus callos...	OMIM:300967
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Microcephaly	ORPHA:1865
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysphagia, Secondary microcephaly, Hypoplasia of the corpus...	ORPHA:496641
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Achondroplasia	Hydrocephalus	ORPHA:15
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Microcephaly, Abnormal brainstem morphology, Posterior pituitary hypoplasia, Gait disturbance, Hy...	ORPHA:464311
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal...	OMIM:618027
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Microcephaly, Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Abnormal cerebral white matter morphology, Hypo...	ORPHA:391307
Marshall-Smith Syndrome	Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, Macrogyria, Cerebellar hypoplasia, Hyp...	OMIM:602535
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Chiari malformation	OMIM:618162
Congenital Myopathy 22A, Classic	Waddling gait, Normal pressure hydrocephalus	OMIM:620351
Osteopetrosis, Autosomal Recessive 5	Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Cerebral atrophy, Ventriculomegaly	OMIM:259720
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Myelomeningocele, Ce...	OMIM:311200
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c...	OMIM:301043
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hydrocephalus,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Spina bifida, Microcephaly, Hydrocephalus,...	ORPHA:363958
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Microcephaly, Inability to walk, Opisthotonus, Hypoplasia of the corpus callosum, Cervical cord c...	ORPHA:508533
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Self-biting, Abnormal repetitive mannerisms	ORPHA:3306
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms, Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Dilated Cardiomyopathy With Ataxia	Bilateral basal ganglia lesions, Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration aff...	ORPHA:66634
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co...	OMIM:610829
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Microcephaly, Hypoplasia of the pons, Aggressive behavior, Sel...	ORPHA:468678
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Anterior pituitary hypoplasia, Microcephaly, Hypoplasia of the brainstem, Gait dis...	ORPHA:464306
Cri-Du-Chat Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Difficulty walking, Abnormal repetitive manneri...	OMIM:123450
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Tongue thrusting, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the fro...	OMIM:115150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Hydrocephalus, Cerebral cortical atrophy, Microcephaly	OMIM:277400
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Aymé-Gripp Syndrome	Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Cerebral cortical a...	ORPHA:1272
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Microcephaly, Gait disturbance, Hypoplasia of the corpus c...	OMIM:300352
Mend Syndrome	Hyperactivity, Aggressive behavior, Hydrocephalus, Hypoplasia of the corpus callosum, Dandy-Walke...	ORPHA:401973
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Broad-based gait, Secondary microcephaly, Bruxism	OMIM:616351
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Secondary microcephaly, Compulsive behaviors, Primary m...	ORPHA:476126
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Mucopolysaccharidosis Type 1	Hydrocephalus, Paresthesia	ORPHA:579
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph...	OMIM:619534
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Basal ganglia calcification, Cerebral atrophy, ...	OMIM:216400
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Split Cord Malformation	Tethered cord, Cervical spina bifida, Hydrocephalus, Myelomeningocele, Lipomyelomeningocele, Spin...	ORPHA:573278
Wilson Disease	Dystonia, Tremor, Hypoesthesia, Hand tremor, Face of the giant panda sign, Dysphagia, Limb dystonia	OMIM:277900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Hydrocephalus, Limb ataxia, Abnormal temper tantrums, Hypoplasia of the corpus ...	ORPHA:2072
Shprintzen-Goldberg Craniosynostosis Syndrome	Chiari type I malformation, Hydrocephalus, Microcephaly	OMIM:182212
Mohr Syndrome	Hydrocephalus, Porencephalic cyst	OMIM:252100
Opitz-Kaveggia Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:305450
Histiocytoid Cardiomyopathy	Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
White-Sutton Syndrome	Waddling gait, Hyperactivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Self-injurious...	OMIM:616364
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Fanconi Anemia, Complementation Group D2	Microcephaly, Hydrocephalus, Attention deficit hyperactivity disorder, Hypoplasia of the corpus c...	OMIM:227646
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Aggressive behavior, Dysplastic corpus callosum, Chiari ty...	ORPHA:466791
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Microcephaly	OMIM:154400
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Brain stem co...	ORPHA:666
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cerebellar hypoplasia, Attention deficit hyperactivity disorder	OMIM:614083
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Aggressive behavior, H...	OMIM:270400
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi...	ORPHA:563612
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	ORPHA:90652
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Cerebellar atrophy, Ataxia, Subcortical cerebral atrophy, Chiari mal...	ORPHA:309282
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Chiari malformation, Ventriculomegaly, Microcephaly	ORPHA:2462
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Microcephaly, Inability to walk, Self-injurious behavior, Hypoplasia of the corpus callosum, Limb...	ORPHA:457351
Congenital Disorder Of Glycosylation, Type Iia	Microcephaly, Aggressive behavior, Unsteady gait, Cerebellar hypoplasia, Abnormal repetitive mann...	OMIM:212066
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Pe...	ORPHA:508498
Charge Syndrome	Microcephaly, Aqueductal stenosis, Holoprosencephaly, Attention deficit hyperactivity disorder, C...	ORPHA:138
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia	OMIM:306955
Mirage Syndrome	Hydrocephalus	OMIM:617053
Dubowitz Syndrome	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperac...	ORPHA:235
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Microcephaly, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavio...	OMIM:616393
Kinsship Syndrome	Microcephaly, Bruxism, Primary microcephaly, Dandy-Walker malformation, Abnormal repetitive manne...	OMIM:619297
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Basal Cell Nevus Syndrome 1	Calcification of falx cerebri, Hydrocephalus, Spina bifida	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Microcephaly, Pica, Obsessive-compulsive trait, Abnormal repetitive mannerisms	OMIM:617796
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Broad-based gait, M...	OMIM:617330
Dextrocardia	Hydrocephalus	ORPHA:1666
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hemiballismus, Dyst...	ORPHA:522077
Wolf-Hirschhorn Syndrome	Tethered cord, Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Hydrocepha...	OMIM:194190
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Osteopathia Striata With Cranial Sclerosis	Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callosum	OMIM:300373
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Microcephaly, Tremor, Basal ganglia calcification, Cerebral at...	OMIM:133540
Limb Body Wall Complex	Encephalocele, Spina bifida, Abnormal spinal cord morphology, Hydrocephalus, Myelomeningocele, An...	ORPHA:2369
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge	OMIM:101800
Hurler Syndrome	Hydrocephalus	OMIM:607014
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus, Cerebral calcification	ORPHA:505248
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Cerebellar hypoplasia, Microcephaly	ORPHA:163979
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom...	ORPHA:805
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Gaucher Disease	Ataxia, Tremor, Hydrocephalus, Dysphagia, Ventriculomegaly	ORPHA:355
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Oeis Complex	Hydrocephalus, Tethered cord, Myelomeningocele, Chiari malformation	OMIM:258040
Meckel Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla...	ORPHA:564
Mend Syndrome	Hyperactivity, Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cerebral cortical atrophy	ORPHA:1340
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia, Microcephaly	ORPHA:2479
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Schizencephaly, Dystonia, Hydrocephalus, Porencephalic cyst, Cortical dysplas...	OMIM:175780
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hyperactivity, Impulsivity, Aggressive behavior, Spinal cord compres...	ORPHA:580
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Chromosome 15Q11.2 Deletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia, Compulsive beha...	OMIM:615656
Raine Syndrome	Hydrocephalus, Cerebral calcification, Microcephaly	OMIM:259775
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Hajdu-Cheney Syndrome	Hydrocephalus, Syringomyelia, Chiari malformation	ORPHA:955
Jacobsen Syndrome	Hydrocephalus, Holoprosencephaly, Microcephaly	OMIM:147791
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
H Syndrome	Hydrocephalus	ORPHA:168569
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus	OMIM:245600
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Neurofibrillary tangles, Dysphagia, Abnormal repetitive mannerisms	OMIM:607625
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anterior pituit...	OMIM:619841
Kabuki Syndrome	Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly	ORPHA:2322
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M...	ORPHA:1727
Cystinosis	Polydipsia, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:213
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Cerebellar cortical atrophy, Microcephaly	OMIM:619321
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Tetrasomy 9P	Hyperactivity, Abnormal spinal cord morphology, Hydrocephalus, Inappropriate behavior, Lissenceph...	ORPHA:3310
Neurofibromatosis Type 1	Hydrocephalus, Ataxia, Paresthesia, Attention deficit hyperactivity disorder	ORPHA:636
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Microcephaly, Cerebral atrophy, Attention deficit hyperactivity ...	OMIM:301030
Costello Syndrome	Hydrocephalus, Cerebral atrophy, Chiari type I malformation, Enlarged cerebellum, Ventriculomegaly	OMIM:218040
Familial Cerebral Saccular Aneurysm	Encephalomalacia, Abnormal brainstem morphology	ORPHA:231160
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dysphagia, Chiari malformation, Truncal ataxia, Agenesis of corpus callosum, Dandy...	OMIM:264090
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Torticollis	ORPHA:536467
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Fetal Akinesia Deformation Sequence 1	Cerebellar hypoplasia, Cavum septum pellucidum, Hydrocephalus, Absent septum pellucidum	OMIM:208150
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Lower limb dysmetria, Hypoplasia of the corpus callosum, Attention deficit hyperac...	ORPHA:363700
1P36 Deletion Syndrome	Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Gait disturban...	ORPHA:1606
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:261337
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Wiedemann-Rautenstrauch Syndrome	Abnormal corpus striatum morphology, Ataxia, Decreased response to growth hormone stimulation tes...	ORPHA:3455
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Chiari malformation, Elevated circulating follicle stimulating hormone level, Elev...	ORPHA:95699
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Witteveen-Kolk Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Microcephaly, Aggressive be...	OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal repeti...	OMIM:309590
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M...	ORPHA:1001
Kleefstra Syndrome 1	Aggressive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Microcephaly	OMIM:610253
Baller-Gerold Syndrome	Hydrocephalus, Chiari malformation, Spina bifida occulta, Agenesis of corpus callosum, Polymicrog...	OMIM:218600
Fanconi Anemia	Hydrocephalus, Spina bifida, Ventriculomegaly, Microcephaly	ORPHA:84
Yunis-Varon Syndrome	Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pach...	ORPHA:3472
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Extra-axial cerebrospinal fluid accumulation, Attention deficit hyperact...	OMIM:619005
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Microcephaly	OMIM:619695
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Microcephaly, Ag...	OMIM:620330
Coffin-Siris Syndrome 12	Microcephaly, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus, Chiari malformation...	OMIM:619325
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Gait disturbance	ORPHA:3042
Loeys-Dietz Syndrome 1	Hydrocephalus, Chiari malformation	OMIM:609192
22Q11.2 Deletion Syndrome	Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Occipital myelomeningocele, Attention def...	ORPHA:567
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agenesi...	OMIM:305600
Wiedemann-Steiner Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Microcephaly, Aggressive be...	ORPHA:319182
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus	ORPHA:667
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder	OMIM:619426
Mowat-Wilson Syndrome	Focal cortical dysplasia, Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Cerebellar ver...	ORPHA:2152
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of t...	OMIM:612289
Hajdu-Cheney Syndrome	Hydrocephalus	OMIM:102500
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms, Progressive microcephaly	OMIM:300672
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Loeys-Dietz Syndrome 2	Hydrocephalus, Chiari malformation, Dural ectasia	OMIM:610168
Peters Plus Syndrome	Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism,...	ORPHA:709
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Spinal cord tumo...	ORPHA:353281
Nmda Receptor Encephalitis	Oculogyric crisis, CSF pleocytosis, Chorea, Hypersexuality, Opisthotonus, Choreoathetosis, Agitat...	ORPHA:217253
Primrose Syndrome	Restlessness, Cerebral calcification, Ataxia, Aggressive behavior, Self-injurious behavior, Tics,...	OMIM:259050
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Myelomeningocele	OMIM:219000
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Ogden Syndrome	Torticollis, Microcephaly, Cerebral atrophy, Dysphagia, Abnormal repetitive mannerisms, Ventricul...	OMIM:300855
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Periventricular cysts, Ventriculomegaly, Aggressive behavior	OMIM:309000
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:534
Townes-Brocks Syndrome 1	Hydrocephalus, Tethered cord, Holoprosencephaly, Microcephaly	OMIM:107480
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms, Cerebral atrophy, Microcephaly	OMIM:301040
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618653
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum, Ventriculomegaly	OMIM:261540
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Dysphagia, Secondary microcephaly, Hypoplasia of the corpus callosum...	ORPHA:447997
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Arboleda-Tham Syndrome	Microcephaly, Dysphagia, Gait imbalance, Dystonia, Primary microcephaly, Abnormal repetitive mann...	OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Semilobar holopr...	OMIM:301044
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Spina bifida	OMIM:304120
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Tethered cord, Microcephaly, Attention deficit hyperactivity disord...	OMIM:619522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms, Microcephaly	OMIM:616682
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Microcephaly	OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms, Microcephaly	OMIM:612474
Norrie Disease	Microcephaly, Self-injurious behavior, Attention deficit hyperactivity disorder, Aplasia/Hypoplas...	ORPHA:649

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 Napa

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 Napa.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Napa^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Napa^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue
Napa^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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