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Gene: Zfp423 MGI:1891217

Gene Summary

Name:

zinc finger protein 423

Synonyms:

Ebfaz, Zfp104, ataxia1, Roaz

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Zfp423^em1(IMPC)J	HET	Early adult	1.04×10^-05
decreased locomotor activity	Zfp423^em1(IMPC)J	HET	Early adult	7.56×10^-06
preweaning lethality, complete penetrance	Zfp423^em1(IMPC)J	HOM	Early adult	0.00
persistence of hyaloid vascular system	Zfp423^em1(IMPC)J	HET	Early adult	9.45×10^-05
decreased circulating alanine transaminase level	Zfp423^em1(IMPC)J	HET	Early adult	8.34×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Electroretinography 3

Fundus file

2 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Electrocardiogram (ECG)

Waveform Image

14 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Zfp423 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 Zfp423 (2 diseases)
Human diseases predicted to be associated with Zfp423 (1205 diseases)

The table below shows human diseases associated to Zfp423 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Joubert Syndrome With Oculorenal Defect		Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Nephronophthisis 14		Cerebellar vermis hypoplasia	OMIM:614844

The table below shows human diseases predicted to be associated to Zfp423 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Degeneration-Related Autoantigen 3	Abnormal cerebellum morphology	OMIM:602197
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age...	OMIM:615771
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Benign Hereditary Chorea	Gait disturbance	ORPHA:1429
Psychogenic Movement Disorders	Gait disturbance	ORPHA:71519
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Progressive leukoencephalopathy, Ataxia, Babinski sign, Hand tremor, Leukoenc...	OMIM:615889
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Lissencephaly 4	Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo...	OMIM:614019
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric...	ORPHA:171703
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat...	OMIM:619054
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Gait disturbance	ORPHA:98766
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Spastic tetraplegia, Hypoplasia of th...	OMIM:611603
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oro...	ORPHA:300573
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Spastic Paraplegia 88, Autosomal Dominant	Lower limb spasticity, Agenesis of cerebellar vermis, Babinski sign, Unsteady gait, Distal sensor...	OMIM:620106
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar...	OMIM:617090
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis	OMIM:605388
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	OMIM:619501
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Hand tremor, Limb a...	OMIM:607596
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Spastic diplegia, Periventricular cysts, Cerebral a...	ORPHA:255182
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp...	OMIM:608716
Masa Syndrome	Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Agenesis of corpus callosum, Ventri...	ORPHA:2466
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low...	OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Colpocep...	ORPHA:401815
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Microcephaly, Head titubation, Simplified gyral patte...	OMIM:620208
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi...	OMIM:618266
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog...	OMIM:600348
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Dysplastic c...	OMIM:618276
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic M...	ORPHA:363717
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Ataxia-Telangiectasia-Like Disorder	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph...	ORPHA:171680
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Agenesis of c...	OMIM:616540
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Latera...	ORPHA:77299
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Spastic tetraplegia, Simplified gyral pat...	OMIM:619302
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Unilateral Hemispheric Polymicrogyria	Thick cerebral cortex, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Cerebral hy...	ORPHA:101071
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Cerebellar hypo...	OMIM:304100
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Megalencephaly, Diffuse white matter abnormali...	OMIM:613925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Cerebellar calcifications, Rigidity, Basal ganglia calcification, Babinski sign, Li...	OMIM:618824
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Progressive microcephaly, Hyp...	OMIM:613402
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Leukoencephalopathy With Vanishing White Matter 5	Megalencephaly, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Loss of ...	OMIM:620315
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Dysgyria, Oculomotor ...	ORPHA:467166
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainste...	OMIM:619301
Martsolf Syndrome 2	Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	OMIM:619420
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Pyruvate Dehydrogenase E1-Alpha Deficiency	Periventricular leukomalacia, Ataxia, Small for gestational age, Microcephaly, Inability to walk,...	ORPHA:79243
Cerebrooculofacioskeletal Syndrome 3	Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly	OMIM:616570
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ataxia, Spastic tetraparesis, Microcephaly, Inability to walk, Hypoplasia of the brainstem, Progr...	OMIM:616486
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Hypoplasia of the brains...	OMIM:618730
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Hypertonia, Olivopontocerebellar atrophy, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:2732
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal den...	OMIM:619517
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Developmental And Epileptic Encephalopathy 88	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypertonia, Inferior cerebellar ...	OMIM:618959
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebel...	ORPHA:255138
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Masa Syndrome	Lower limb spasticity, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gai...	OMIM:303350
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Postural tremor, Parkinsonism, Cerebellar calcifications, Basal ganglia c...	OMIM:615483
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g...	OMIM:615095
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Failure to thrive in infancy, Spastic tetraparesis, Simplified gyra...	ORPHA:284417
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Sub-Cortical Nodular Heterotopia	Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo...	ORPHA:101029
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cer...	OMIM:617668
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Appendicular spasticity, Inability to walk, Periventricular leukomalacia, Age...	OMIM:618324
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Progressive spasticity	OMIM:619972
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
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ...	OMIM:607317
Intellectual Developmental Disorder, Autosomal Recessive 69	Ataxia, Microcephaly, Cerebellar hypoplasia, Spasticity, Ventriculomegaly	OMIM:618383
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Cerebra...	ORPHA:101110
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight, Global brain atrophy, Clumsiness	ORPHA:324422
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Abnormal cer...	ORPHA:565624
Lissencephaly, X-Linked, 1	Ataxia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the...	OMIM:618890
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Ataxia	ORPHA:85334
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Gait imbalance, Cerebella...	ORPHA:488635
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath...	OMIM:221770
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Hem...	OMIM:617542
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Pontocerebellar Hypoplasia, Type 13	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Gait ataxi...	OMIM:618606
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
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
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Cerebellar hypoplasia, Hypopla...	OMIM:619072
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Juvenile Huntington Disease	Cerebellar atrophy, Ventriculomegaly, Broad-based gait, Ataxia, Neuronal loss in basal ganglia, R...	ORPHA:248111
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Poor coordinat...	OMIM:617695
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Clonus, Optic nerve hypoplasia, O...	ORPHA:370959
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Progressive microcephaly, Hypopla...	OMIM:617862
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L...	OMIM:608629
Machado-Joseph Disease Type 1	Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Hyperintensity of cerebral...	ORPHA:521406
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral pattern, Cerebral atr...	OMIM:618492
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Microcephaly, Lateral ventricle dilatation, ...	ORPHA:3078
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impai...	OMIM:256850
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:85179
Cach Syndrome	Cerebellar atrophy, Microcephaly, Spastic diplegia, Dysmetria, Limb ataxia, Hemiparesis, Cerebral...	ORPHA:135
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Spastic te...	ORPHA:1947
Machado-Joseph Disease	Dilated fourth ventricle, Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Thin corpus callosum	OMIM:620270
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Spastic Paraplegia 11, Autosomal Recessive	Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Babinski sign, S...	OMIM:604360
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Macrocephaly, Acquired, With Impaired Intellectual Development	Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly	OMIM:618286
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal py...	OMIM:614833
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr...	OMIM:620200
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:617751
Microcephaly 16, Primary, Autosomal Recessive	Primary microcephaly, Simplified gyral pattern, Spastic tetraplegia, Decreased body weight, Spast...	OMIM:616681
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai...	OMIM:616494
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic...	ORPHA:357058
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi...	OMIM:302500
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Dand...	OMIM:616602
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski...	OMIM:164400
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte...	OMIM:616212
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesi...	ORPHA:1528
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Central Neurocytoma	Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc...	ORPHA:73256
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,...	OMIM:600118
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo...	OMIM:607196
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia	OMIM:125370
Myasthenic Syndrome, Congenital, 23, Presynaptic	Frequent falls, Agenesis of corpus callosum	OMIM:618197
Microhydranencephaly	Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:605013
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po...	ORPHA:250972
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia	ORPHA:284271
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Spastic tetraplegia, Eyelid ...	ORPHA:208447
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Tetraplegia, Cer...	OMIM:616034
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Hypoplasi...	OMIM:617916
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Cerebral hypoplasia, Cere...	ORPHA:168486
Machado-Joseph Disease Type 3	Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276244
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Microcephaly, Inability to walk, Lateral ventricle dilatation, Thin corpus...	OMIM:615716
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo...	OMIM:615574
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia...	OMIM:312170
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Tetraplegia, Hypertonia, Failure to thrive, Agenesis of corpus ca...	OMIM:274270
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Leukoencep...	OMIM:618387
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Primary microcephaly, Babinski s...	OMIM:619847
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:613163
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation...	OMIM:614219
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Inability to walk, Unsteady gait, Thick corpus callosum, Simplified...	OMIM:618273
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ...	ORPHA:300570
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Cerebral dysmyelination, Hypoplasia of the pons, Babins...	OMIM:606854
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebell...	OMIM:617669
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:610688
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Spastic paraplegia, Poor gross mot...	OMIM:245349
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Basal ganglia calcification, Abnormal pyramidal sign, Bra...	OMIM:213600
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ...	OMIM:218670
Spinocerebellar Ataxia Type 2	Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Parkinsonis...	ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the corpus callosum, Vocal cord...	ORPHA:500144
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum...	OMIM:616171
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age, Microcephaly	OMIM:619278
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Failure to thrive, Agene...	OMIM:250620
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc...	OMIM:224050
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Microcephaly, Spasticity, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:615286
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Global Developmental Delay With Or Without Impaired Intellectual Development	Poor fine motor coordination, Lateral ventricle dilatation	OMIM:618330
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive, A...	OMIM:618238
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t...	OMIM:307000
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Neuroferritinopathy	Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Abnormal putamen morphology...	ORPHA:157846
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s...	OMIM:252650
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ...	OMIM:610357
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski si...	ORPHA:2524
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Ventriculomegaly	OMIM:619561
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Spastic paraplegia, Obesity, Cerebral atrophy, Lateral v...	OMIM:617296
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr...	OMIM:617691
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa...	ORPHA:599373
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Familial Congenital Mirror Movements	Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology...	ORPHA:238722
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dys...	OMIM:618088
Foxg1 Syndrome	Pachygyria, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty wal...	ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle...	OMIM:613154
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to...	ORPHA:2822
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hypertonia, Nonprogressive cerebellar ataxia, Primary...	ORPHA:466688
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo...	OMIM:256731
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Failure to thrive in infancy, Spastic tetrapar...	ORPHA:356961
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ...	OMIM:613162
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella...	OMIM:618291
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl...	ORPHA:542310
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Generalized dystonia, Microcephaly	OMIM:619025
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande...	OMIM:619028
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Partial agenesis of ...	OMIM:619653
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydran...	OMIM:225790
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly...	OMIM:616531
Coach Syndrome 2	Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia...	OMIM:616819
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive, Thin corpus callosum	OMIM:619651
Autosomal Recessive Primary Microcephaly	Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul...	ORPHA:2512
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Basal ganglia calcification, Abnormal pyramidal sign,...	OMIM:618317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, P...	ORPHA:139485
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ...	OMIM:607346
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe...	ORPHA:98
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Usmani-Riazuddin Syndrome, Autosomal Recessive	Spasticity, Agenesis of corpus callosum	OMIM:619548
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer...	OMIM:614877
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p...	OMIM:614409
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Epi...	ORPHA:420179
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,...	OMIM:300957
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Difficult...	ORPHA:397725
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Behr Syndrome	Cerebellar atrophy, Periventricular leukomalacia, Ataxia, Tremor, Babinski sign, Unsteady gait, D...	OMIM:210000
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin...	ORPHA:79264
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Cerebral palsy, Poor gross motor coordination, Lateral ventricle d...	ORPHA:2148
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Babinski sign, Lissencephaly, Cerebellar hypoplasia, Pachygyria,...	OMIM:620316
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Reduced cerebral white matter volume, Opi...	OMIM:620352
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to th...	OMIM:619556
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Chronic Hiccup	Dehydration, Abnormal eating behavior	ORPHA:396
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Chiari Malformation Type Ii	Ataxia, Hydrocephalus, Opisthotonus, Chiari malformation, Agenesis of corpus callosum	OMIM:207950
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ...	OMIM:618603
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea...	OMIM:607136
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Lateral ventricle dilatation, Lower limb hypertonia, Frequent falls, Intention tremor	OMIM:619995
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Microcephaly, Agenesis of corpus callosum, Frontal cortical atrophy, Spasticity, Parietal cortica...	OMIM:618766
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Holoprosencephaly 5	Lateral ventricle dilatation, Hydrocephalus, Microcephaly	OMIM:609637
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypertonia, Secondary microcephaly, ...	OMIM:613668
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Babinski sign, Leukoenceph...	OMIM:618193
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Impaired pain sensation, Abnormal cerebellum morphology, Hy...	ORPHA:1532
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi...	OMIM:617397
Fetal Akinesia Syndrome, X-Linked	Agenesis of corpus callosum	OMIM:300073
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Spasticity,...	ORPHA:2182
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Iro...	ORPHA:329284
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr...	OMIM:617435
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins...	OMIM:615157
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Simplified gyral pat...	OMIM:619470
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Severe temper tantrums, Polyhydramnios, Dysmetria, Gait ataxia, Atten...	OMIM:614306
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
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
Hsd10 Disease	Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait di...	ORPHA:391417
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Thin corpus c...	OMIM:206700
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Microcephaly, Poor coordination	ORPHA:261183
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Microcephaly, Tetraplegia, Spasticity, Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:2508
Glycine Encephalopathy 1	Agenesis of corpus callosum, Myoclonus	OMIM:605899
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic c...	OMIM:620001
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor...	OMIM:614105
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Hypertonia, Dec...	OMIM:618346
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Inability to walk, Decreased thalamic volume, Abnormal basal ganglia morphology	OMIM:618646
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Mild fetal ventriculomegaly, Agenesis of corpus callosum	OMIM:610498
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:218350
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Corpus ca...	ORPHA:228360
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D...	OMIM:302800
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Striatal T2 hyperintensity, Progressive gait ataxi...	ORPHA:289494
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi...	ORPHA:330050
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malfo...	OMIM:618476
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callos...	ORPHA:544488
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at...	ORPHA:352403
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Cerebellar vermis hypoplasia, Failure to thrive, Absent septum pellucidum, Abno...	ORPHA:397715
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:166024
Cog5-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Latera...	ORPHA:263487
4Q21 Microdeletion Syndrome	Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:238750
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Abnormal cerebral white matter morphology, Failure to thrive, Ataxia	OMIM:618951
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine...	OMIM:617013
Zaki Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Unsteady gait, Hypertonia, ...	OMIM:619648
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr...	OMIM:607485
Spinocerebellar Ataxia 26	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Hypoplasia of the ...	OMIM:607694
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Neurofibrillary tangles, Limb ataxia, Gait at...	OMIM:137440
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Cerebellar hypo...	OMIM:615181
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Brain Malformations With Or Without Urinary Tract Defects	Chiari type I malformation, Hypoplasia of the corpus callosum, Failure to thrive, Agenesis of cor...	OMIM:613735
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor...	OMIM:612438
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Leukoencephalopathy, Gait disturbance, Ven...	OMIM:603472
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:1621
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Microcephaly, Basal gang...	OMIM:214150
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplas...	ORPHA:89844
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Meckel Syndrome, Type 10	Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:614175
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V...	OMIM:619074
Hogue-Janssen Syndrome 2	Microcephaly, Inability to walk, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, A...	OMIM:616362
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, H...	OMIM:616271
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br...	OMIM:619306
Oculocerebrocutaneous Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation	OMIM:164180
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corpus callosum, Cerebral palsy	OMIM:618914
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Simplifie...	OMIM:300749
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Microcephaly, Lissencephaly, Agenesis of corpus callosum, Ventricul...	ORPHA:99742
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Delpire-Mcneill Syndrome	Spasticity, Hypertonia, Agenesis of corpus callosum, Cortical dysplasia	OMIM:619083
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Hypointensity of cerebral white...	ORPHA:845
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Microcephaly, Tremor, Inability to walk, Overweight, Obesity, Late...	OMIM:619229
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Abn...	ORPHA:48818
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Distal Deletion 10Q	Ataxia, Clonus, Microcephaly, Unsteady gait, Spasticity, Poor fine motor coordination, Lateral ve...	ORPHA:96148
6Q25 Microdeletion Syndrome	Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:251056
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal int...	ORPHA:485421
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria	OMIM:614870
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary m...	ORPHA:83597
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Dystonia...	OMIM:611390
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, ...	OMIM:614487
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly	OMIM:619466
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Spastic tetraparesis, Microcephaly, Basal ganglia calcification, Spastic ...	OMIM:619487
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc...	OMIM:619725
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia...	ORPHA:220497
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Lissencephaly, X-Linked, 2	Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:300215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive microcephaly, Lissencephaly...	OMIM:615249
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:254881
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Dysphagia, Progressive cer...	OMIM:183086
New-Onset Refractory Status Epilepticus	Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal basal ganglia MRI signal i...	ORPHA:363558
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcep...	OMIM:312080
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Babinski sign, Cerebral atr...	OMIM:615802
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens...	ORPHA:70595
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618577
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Microcephaly, Lateral ventricle dilatation, Hyp...	OMIM:618367
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Rigidity, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myo...	OMIM:619057
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly, ...	OMIM:619869
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax...	ORPHA:276198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Agenesis of corpus ca...	OMIM:218000
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Hy...	ORPHA:477673
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Fg Syndrome 3	Chiari type I malformation, Agenesis of corpus callosum	OMIM:300406
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki...	OMIM:300894
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer...	OMIM:617710
Leigh Syndrome	Chorea, Choreoathetosis, Encephalomalacia, Focal T2 hyperintense basal ganglia lesion, Agenesis o...	ORPHA:506
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Dehydration, Choreoathetosis, Tetraparesis	ORPHA:27
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Babinski sig...	OMIM:616505
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic le...	OMIM:613724
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Anorexia, Dehydration	ORPHA:79312
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Cerebellar hypoplasia, Neonatal death, Spasticity, Ventriculomegaly	OMIM:613730
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Baraitser-Winter Syndrome 2	Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614583
Familial Cold Urticaria	Dysesthesia, Polydipsia, Dehydration	ORPHA:47045
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Apla...	ORPHA:2570
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
X-Linked Lissencephaly With Abnormal Genitalia	Microcephaly, Spasticity, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:452
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly	OMIM:618731
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Japanese Encephalitis	Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Paralysis, ...	ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial absence of cere...	OMIM:613150
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Ritscher-Schinzel Syndrome 4	Ataxia, Chorea, Mild fetal ventriculomegaly, Athetosis, Cerebellar hypoplasia, Agenesis of corpus...	OMIM:619435
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia...	ORPHA:220493
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Hypoplasia of the corpus callosum, Spasticity, Cerebral cortical atrophy	OMIM:300983
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Failure to thrive, Microcephaly, Tremor, Inability to ...	OMIM:617988
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Microcephaly, Cer...	OMIM:611209
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity	OMIM:609260
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Microcephaly 13, Primary, Autosomal Recessive	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyra...	OMIM:616051
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Abn...	ORPHA:98755
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Microcephaly, Hypoplasia of the corpus callosum, Spasticity, Agenesis of corp...	OMIM:616239
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Ventri...	OMIM:617281
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Chiari malformation...	OMIM:609053
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Spinocerebellar Ataxia, Autosomal Recessive 31	Posterior atrophy of corpus callosum, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Cerebell...	OMIM:619422
Combined Oxidative Phosphorylation Deficiency 47	Dehydration, Dysphagia	OMIM:618958
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno...	ORPHA:280219
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Tremor, Cortical dysplasia, Simplified gyral pattern, Gait ataxia, Abnormal cer...	OMIM:300354
Central Diabetes Insipidus	Polydipsia, Anorexia, Dehydration	ORPHA:178029
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, C...	ORPHA:457279
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lis...	OMIM:615287
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Obesity, Hemipare...	OMIM:619737
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	OMIM:615433
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Po...	ORPHA:899
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Microcephaly, Limb ataxia, Choreoathetosis, Difficulty walking, Dys...	OMIM:617595
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia	OMIM:618810
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ...	ORPHA:765
Bainbridge-Ropers Syndrome	Microcephaly, Inability to walk, Lateral ventricle dilatation, Hypertonia, Hypoplasia of the corp...	OMIM:615485
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Inability to walk, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Impai...	ORPHA:254930
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Halperin-Birk Syndrome	Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Pseudobulbar paralysis, Failure...	OMIM:618651
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Difficulty walki...	ORPHA:464738
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hy...	ORPHA:468631
Weaver Syndrome	Absent septum pellucidum, Slurred speech, Poor fine motor coordination, Lateral ventricle dilatat...	OMIM:277590
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Microcephaly, Tremor, Hypoplastic anterior limbs of the internal capsule, Chorea,...	OMIM:615673
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2...	ORPHA:25
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus	OMIM:612863
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilat...	OMIM:619575
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia, Ventriculomegaly	OMIM:617622
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Inability to walk, Hypoplasia of the brainstem, Progressive microcephaly, Difficulty walk...	ORPHA:481152
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Periv...	ORPHA:3008
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Thin corpus callosum, Spa...	OMIM:619720
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Hemiplegia/hemiparesis, ...	ORPHA:3157
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small...	ORPHA:2388
Temtamy Syndrome	Hypertonia, Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly	OMIM:218340
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasi...	OMIM:253800
Beta-Ketothiolase Deficiency	Ataxia, Anorexia, Edema, Dehydration, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spasti...	ORPHA:134
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula...	ORPHA:90117
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Gabriele-De Vries Syndrome	Waddling gait, Tremor, Cortical dysplasia, Lateral ventricle dilatation, Tip-toe gait, Dystonia	OMIM:617557
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Hypoplasia of the corpus callo...	OMIM:619479
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia, Clumsiness	OMIM:619320
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Po...	OMIM:619775
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Dehydration	OMIM:616069
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p...	OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the ...	OMIM:614643
Cystinosis	Abnormal pyramidal sign, Dehydration, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Alternating Hemiplegia Of Childhood	Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Chorea, Tremor, Ab...	ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Rigidity, Cerebral ...	OMIM:617186
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus, Dehydration	OMIM:560000
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m...	ORPHA:293725
Craniosynostosis 3	Partial agenesis of the corpus callosum	OMIM:615314
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Absent septum pellucidum, Large for gestational age, Microcephaly, Abnorma...	OMIM:300868
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, ...	OMIM:304050
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular leukomalacia, Cerebral palsy, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, ...	OMIM:619833
Adult Krabbe Disease	Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor...	ORPHA:206448
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the...	ORPHA:314679
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal gang...	ORPHA:97355
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Familial Acute Necrotizing Encephalopathy	Rigidity, Abnormal putamen morphology, Spastic tetraplegia, Hypertonia, Gait disturbance, Spastic...	ORPHA:88619
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Microcephaly, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance...	ORPHA:457240
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr...	ORPHA:1192
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly	OMIM:618619
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls	OMIM:159950
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra...	ORPHA:70594
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste...	ORPHA:442835
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Limb myoclonus, Focal cortical dysplasia, Acroparesthesi...	ORPHA:101030
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Aicardi-Goutieres Syndrome 6	Tremor, Loss of ambulation, Rigidity, Dystonia	OMIM:615010
Crome Syndrome	Microcephaly, Cerebellar dysplasia	OMIM:218900
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Baraitser-Winter Syndrome 1	Failure to thrive, Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventricu...	OMIM:243310
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosu...	ORPHA:1812
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Hypodysplasia of the corpus callosum, Microcephaly, Hydrocephalus, Tet...	OMIM:257300
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Microcephaly, Opisthotonus, Lateral ventricle dilatation, Hypertonia, Failu...	OMIM:614098
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Pachygyria, Hydrocephalus, H...	OMIM:236670
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Acromelic Frontonasal Dysplasia	Choroid plexus cyst, Hypoplasia of the olfactory bulb, Retrocerebellar cyst, Agenesis of corpus c...	ORPHA:1827
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Alexander Disease	Cerebral calcification, Ataxia, Clonus, Megalencephaly, Aqueductal stenosis, Tremor, Hydrocephalu...	ORPHA:58
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Brain-Lung-Thyroid Syndrome	Dystonia, Ataxia, Incoordination, Involuntary movements, Microcephaly, Chorea, Clumsiness, Choreo...	ORPHA:209905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Rigidity, Pachygyria, Hydroce...	ORPHA:35107
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventriculomegaly, Small for gestational age, Optic nerve hypoplasia, Microcephaly, Cerebellar hyp...	OMIM:301056
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida...	ORPHA:447753
Holoprosencephaly 11	Agenesis of corpus callosum, Microcephaly	OMIM:614226
Reticular Dysgenesis	Dehydration	ORPHA:33355
Vici Syndrome	Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Cerebellar hypopl...	ORPHA:1493
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis...	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Cystathioninuria	Tremor	ORPHA:212
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Abnormal cerebral wh...	ORPHA:314404
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Emanuel Syndrome	Failure to thrive, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter ...	ORPHA:96170
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Partial agenesis of the corpus callosum, Obesity, Apraxia, Oculomotor ap...	OMIM:620250
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:261344
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Hydrocephalus, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Abnormality of the dienc...	ORPHA:2720
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Impaired pain sensation, Microcephaly, Gait ataxia, Agenesis of corpus ...	ORPHA:1446
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Developmental And Epileptic Encephalopathy 46	Microcephaly, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia	OMIM:617162
Curry-Jones Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1553
Curry-Jones Syndrome	Megalencephaly, Hemimegalencephaly, Chiari type I malformation, Polymicrogyria, Agenesis of corpu...	OMIM:601707
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa...	ORPHA:363400
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:182230
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Obesity, Subcortical cerebral atrophy, Cerebral cortical ...	ORPHA:96147
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Spast...	OMIM:616449
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ...	OMIM:620327
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait	ORPHA:3077
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Diff...	ORPHA:282166
1Q44 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:238769
Meningioma	Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Reduced circ...	ORPHA:2495
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ...	OMIM:620073
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Methylmalonyl-Coa Epimerase Deficiency	Spasticity, Dehydration	OMIM:251120
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Anorexia, Spastic hemiparesis, Edema, Dehydration, Myoclonus, Spasticity	ORPHA:20
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Tetraplegia, Cerebral atro...	ORPHA:2396
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Harlequin Ichthyosis	Self-injurious behavior, Dehydration	ORPHA:457
Radio-Tartaglia Syndrome	Ataxia, Microcephaly, Tremor, Obesity, Gait imbalance, Agenesis of corpus callosum	OMIM:619312
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap...	ORPHA:363722
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Focal T2 hyperintense thalamic lesion, Ataxia	OMIM:619046
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
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Propionic Acidemia	Dehydration, Limb hypertonia	OMIM:606054
8P Inverted Duplication/Deletion Syndrome	Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker...	ORPHA:96092
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Obesity, Dysmetria, Gait ataxia, Abnormality of neuronal migration, ...	ORPHA:75857
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Spastic tetraplegia, Tetraplegia, Microcephaly	OMIM:300004
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Unsteady gait, Hypoplasia of the corpus callosum, Gait a...	OMIM:618109
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Choroid plexus cyst, Retrocerebellar c...	OMIM:603671
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hy...	OMIM:243910
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
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Aplasia/Hypoplasia of the corpus cal...	ORPHA:475
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Abnormal thalamus morphology, Ataxia	ORPHA:435638
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Small for gestational age, Pachygyria, Macrogyria, Athetosis, Colpocephaly, C...	OMIM:614866
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Spastic diplegia, Microcephaly	OMIM:619980
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	OMIM:263520
Microcephaly 26, Primary, Autosomal Dominant	Spastic tetraparesis, Microcephaly, Pachygyria, Dysplastic corpus callosum, Simplified gyral patt...	OMIM:619179
Isovaleric Acidemia	Dehydration	OMIM:243500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Periventricular leukomalacia, Failure to thrive in infancy, Optic nerve hypoplasia, Dysplastic co...	ORPHA:500150
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Fumarase Deficiency	Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, ...	OMIM:606812
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp...	OMIM:243605
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o...	OMIM:300896
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spastic paraplegia, Cerebral atrophy,...	ORPHA:83629
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Meckel Syndrome, Type 1	Dilated fourth ventricle, Microcephaly, Hydrocephalus, Anencephaly, Cerebral hypoplasia, Chiari m...	OMIM:249000
Chromosome 14Q11-Q22 Deletion Syndrome	Lateral ventricular asymmetry, Microcephaly, Pachygyria, Inability to walk, Hypertonia, Hypoplasi...	OMIM:613457
Intellectual Disability-Strabismus Syndrome	Microcephaly, Gait disturbance, Hypoplasia of the corpus callosum, Spasticity, Failure to thrive,...	ORPHA:363528
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Microcephaly, Tremor, Inabil...	OMIM:615356
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventri...	ORPHA:87
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Small for gestational age, Microcephaly, Paresthesia, Abnormal thalamus morphology	ORPHA:2959
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clonus, Cerebral white matter hypoplasia, Colpocephaly, Lower limb hypertonia, Hypoplasia of the ...	ORPHA:477993
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr...	OMIM:617260
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissenceph...	OMIM:617822
Autosomal Agammaglobulinemia	Dehydration	ORPHA:33110
Isolated Exencephaly	Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, Aplasia/Hypoplasi...	ORPHA:563612
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu...	OMIM:619512
Secondary Short Bowel Syndrome	Polyphagia, Dehydration	ORPHA:95427
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ...	ORPHA:457284
Pseudotrisomy 13 Syndrome	Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum	OMIM:264480
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal inte...	ORPHA:444013
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
16P13.11 Microdeletion Syndrome	Hypertonia, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly	ORPHA:261236
Wolcott-Rallison Syndrome	Ascites, Difficulty walking, Dehydration	ORPHA:1667
Trichothiodystrophy	Periventricular leukomalacia, Cerebral dysmyelination, Microcephaly, Partial agenesis of the corp...	ORPHA:33364
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Hypertonia, Microcephaly	OMIM:604273
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Duplication Of The Pituitary Gland	Lower limb spasticity, Microcephaly, Abnormal hypothalamus morphology, Hypoplasia of olfactory tr...	ORPHA:314621
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Agenesis of corpus callosum	OMIM:613174
Prader-Willi Syndrome Due To Translocation	Lateral ventricle dilatation, Cerebral cortical atrophy, Obesity, Microcephaly	ORPHA:177907
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Sandhoff Disease, Infantile Form	Exaggerated startle response, Abnormal thalamic MRI signal intensity, Myoclonus, Spasticity, Cere...	ORPHA:309155
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Inability to walk, Colpocephaly, Dystonia, Fa...	OMIM:620083
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th...	OMIM:620305
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo...	ORPHA:370997
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Failure to thrive, ...	OMIM:605039
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Aplasia/Hypoplasia of the cerebell...	OMIM:612651
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ...	ORPHA:168577
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration	OMIM:602199
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Aicardi Syndrome	Microcephaly, Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, Hypertonia, Aplasi...	ORPHA:50
Bohring-Opitz Syndrome	Microcephaly, Inability to walk, Lower limb hypertonia, Hypoplasia of the corpus callosum, Severe...	ORPHA:97297
Immunodeficiency 49	Agenesis of corpus callosum, Spastic tetraplegia, Reduced cerebral white matter volume	OMIM:617237
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Chromosome 13Q33-Q34 Deletion Syndrome	Small for gestational age, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker m...	OMIM:619148
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Chorea, Abnormal periventricular w...	ORPHA:1855
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Choroid plexus cyst	OMIM:612337
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
Cono-Spondylar Dysplasia	Failure to thrive, Partial agenesis of the corpus callosum, Poor coordination	ORPHA:420794
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:77298
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis, Hypoplasia of...	OMIM:612164
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor	OMIM:619790
Lamellar Ichthyosis	Dehydration	ORPHA:313
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Sotos Syndrome	Partial agenesis of the corpus callosum, Poor coordination, Increased body weight, Cavum septum p...	OMIM:117550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Dehydration, Oligohydramnios	OMIM:208085
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia...	OMIM:618820
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ...	OMIM:607426
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Histiocytoid Cardiomyopathy	Hydrocephalus, Hemiplegia, Cerebellar malformation, Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration	OMIM:251000
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Melas	Abnormal central motor function, Ataxia, Aplasia/Hypoplasia of the cerebral white matter, Basal g...	ORPHA:550
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Hydrocephalus, Hydrops fetalis, Dehydration, Poor fine motor coordination	ORPHA:79282
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Enlarged cerebellum, Ataxia	OMIM:620047
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Failure to thrive, Agen...	OMIM:277170
Hydranencephaly	Abnormal corpus striatum morphology, Thalamic edema, Spastic diplegia, Opisthotonus, Cerebral cor...	ORPHA:2177
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Tremor, Chorea, Dehydration, Agitation, Dysphagia	ORPHA:94093
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Hypertonia, Failure to thrive, Ventricu...	OMIM:618460
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Fryns Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Netherton Syndrome	Dehydration	ORPHA:634
Helsmoortel-Van Der Aa Syndrome	Obesity, Truncal obesity, Lateral ventricle dilatation, Failure to thrive, Ventriculomegaly	OMIM:615873
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L...	OMIM:610828
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Agenesis of ...	ORPHA:42775
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Spasticity, Failure to thrive, Secondary microcephaly	OMIM:619423
Marshall-Smith Syndrome	Absent septum pellucidum, Optic nerve hypoplasia, Pachygyria, Hydrocephalus, Cerebral atrophy, Ma...	OMIM:602535
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia	ORPHA:3301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ...	OMIM:608836
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leukomala...	OMIM:617360
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Tremor, Spastic diplegia,...	OMIM:300966
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Chiari type I malformation, Cerebellar h...	OMIM:101200
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus...	ORPHA:261537
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Microcephaly	ORPHA:261144
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
47,Xyy Syndrome	Hyperactivity, Impulsivity, Hydrocephalus, Attention deficit hyperactivity disorder, Dysgenesis o...	ORPHA:8
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Failure to thrive, ...	ORPHA:2461
Generalized Pseudohypoaldosteronism Type 1	Dehydration	ORPHA:171876
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy	OMIM:146500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Microcephaly, Trem...	ORPHA:466768
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria	ORPHA:2328
Kleefstra Syndrome	Microcephaly, Obesity, Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, C...	OMIM:300967
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Renal Hypoplasia	Polydipsia, Dehydration	ORPHA:93101
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	OMIM:300000
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Oculomotor apraxia, Aplasia/Hypoplas...	ORPHA:1454
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618872
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of...	ORPHA:480880
Opitz Gbbb Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia of the corpus callosum, Dan...	ORPHA:2745
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Microcephaly, Hypoplasia of the corpus callosum, Failure to thrive,...	OMIM:619418
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Microcephaly	ORPHA:250989
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypertonic dehydration	OMIM:304800
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Spastic tetra...	ORPHA:98889
Xp21 Deletion Syndrome	Spasticity, Agenesis of corpus callosum	ORPHA:261476
Methylmalonic Aciduria, Cbla Type	Tremor, Dehydration	OMIM:251100
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus...	ORPHA:261552
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum morphology, Abnormal basal gan...	ORPHA:68
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Dysplastic corpus callosum, Chiari type I ...	ORPHA:466791
Gabriele-De Vries Syndrome	Waddling gait, Small for gestational age, Tremor, Abnormal cerebral white matter morphology, Hypo...	ORPHA:506358
Osteootohepatoenteric Syndrome	Hydrocephalus, Dehydration	OMIM:619377
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Tremor, Pachygyria, Diffuse white mat...	ORPHA:1934
16Q24.3 Microdeletion Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Ventriculomegaly	ORPHA:261250
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral atrophy, Hy...	OMIM:311200
Monosomy 13Q34	Agenesis of corpus callosum, Obesity, Microcephaly	ORPHA:96168
15Q Overgrowth Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Dehydration, Apraxia	ORPHA:99885
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum	ORPHA:1780
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Dystonia, Small for gestational age, Microcephaly, Tremor, ...	OMIM:220111
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus callo...	OMIM:618500
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait dis...	ORPHA:2754
Pearson Syndrome	Ataxia, Hydrops fetalis, Dehydration, Corneal stromal edema, Dysphagia	ORPHA:699
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Cerebellar cyst	OMIM:613091
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Hydrocephalus, Polymicrogyria, Obesity, Leukoencephalopathy, Lateral ventricle dila...	OMIM:607872
Oligomeganephronia	Polydipsia, Dehydration	ORPHA:2260
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Failure to thrive, Agenesis of corpus callosum, Cerebra...	OMIM:151050
Benign Schwannoma	Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran...	ORPHA:252164
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
12Q14 Microdeletion Syndrome	Tremor, Failure to thrive, Chiari malformation, Microcephaly	ORPHA:94063
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Orofaciodigital Syndrome Type 1	Ataxia, Tremor, Dystonia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Pai Syndrome	Nasal polyposis, Depressed nasal bridge, Midline defect of the nose	ORPHA:1993
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Bickerstaff Brainstem Encephalitis	Ataxia, Dysesthesia, Babinski sign, Impaired proprioception, Abnormal pyramidal sign, Abnormal th...	ORPHA:79138
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Methylmalonic Aciduria, Cblb Type	Dehydration	OMIM:251110
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Shigellosis	Anorexia, Dehydration	ORPHA:810
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Failure to thrive, Agenesis of corpus...	OMIM:242840
Zttk Syndrome	Periventricular leukomalacia, Dysplastic corpus callosum, Abnormal cerebral white matter morpholo...	OMIM:617140
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microcephaly, Spastic tetraplegia, Spastic diplegia, Hypothalamic hamarto...	OMIM:206900
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Agenesis of corpus callosum	OMIM:618733
Dend Syndrome	Dehydration	ORPHA:79134
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Chronic Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intensity	ORPHA:529799
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Cerebral atrophy, Hypertonia, Secondary microcephaly, Hypoplasia of the corpus ca...	OMIM:617248
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog...	ORPHA:254892
21Q22.11Q22.12 Microdeletion Syndrome	Agenesis of corpus callosum, Failure to thrive in infancy, Microcephaly	ORPHA:261323
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Slender build, Small for gestational age, Microcephaly, Hydrocephalus, Chiari typ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Slender build, Small for gestational age, Microcephaly, Hydrocephalus, Chiari typ...	ORPHA:363958
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Distal Renal Tubular Acidosis	Polydipsia, Dehydration, Paralysis	ORPHA:18
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenes...	OMIM:227646
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia	ORPHA:223
Alobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Inability to walk, Hydrocephalus, Oromotor apraxia...	ORPHA:220386
Wolf-Hirschhorn Syndrome	Ataxia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Agenesis of corpus...	ORPHA:280
Oculocerebrorenal Syndrome Of Lowe	Clonus, Dehydration, Self-injurious behavior, Joint swelling, Compulsive behaviors, Attention def...	ORPHA:534
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Type II lissencephaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of t...	OMIM:253280
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Anorexia, Dehydration	OMIM:557000
Cholera	Dehydration	ORPHA:173
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callos...	OMIM:270400
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Dehydration, Oligohydramnios	OMIM:263200
Ataxia-Telangiectasia	Ataxia, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cer...	OMIM:208900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly	ORPHA:847
Monosomy 22Q13.3	Impaired pain sensation, Agenesis of corpus callosum, Obesity, Cerebellar cortical atrophy	ORPHA:48652
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Agenesis of corpus callosum	OMIM:309520
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Tremor, R...	OMIM:601104
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Infantile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411629
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, P...	OMIM:619841
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis	OMIM:155145
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Neu-Laxova Syndrome 1	Choroid plexus cyst, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly,...	OMIM:256520
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis	OMIM:616037
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity	OMIM:305450
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent sinusitis	OMIM:620197
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Trisomy 8P	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Agenesis of corpus callosum	ORPHA:556955
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum, Ventriculomegaly	ORPHA:264200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomal...	ORPHA:508498
Colchicine Poisoning	Dehydration	ORPHA:31824
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Failur...	OMIM:264090
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Coffin-Siris Syndrome	Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly	ORPHA:1465
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Paresthesia, Polyhydramnios, Dehydration	OMIM:241200
Vipoma	Ascites, Anorexia, Dehydration	ORPHA:97282
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Wiedemann-Rautenstrauch Syndrome	Ataxia, Slender build, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hyperton...	ORPHA:3455
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus, Microcephaly	OMIM:147920
Juvenile Nephropathic Cystinosis	Polydipsia, Dehydration	ORPHA:411634
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Cystinosis, Nephropathic	Polydipsia, Dehydration, Dysphagia, Oral-pharyngeal dysphagia	OMIM:219800
Netherton Syndrome	Hypernatremic dehydration, Angioedema	OMIM:256500
Orofaciodigital Syndrome V	Agenesis of corpus callosum, Microcephaly	OMIM:174300
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Cerebral calcification, Microcephaly, Tremor, Hemiple...	ORPHA:51
Fryns Syndrome	Large for gestational age, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis...	OMIM:229850
Marburg Hemorrhagic Fever	Dysesthesia, Dehydration, Anorexia, Aggressive behavior	ORPHA:99826
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation...	OMIM:619534
Dpagt1-Cdg	Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypert...	ORPHA:86309
Microsporidiosis	Anorexia, Dehydration	ORPHA:2552
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Spasticity, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Lysosomal Acid Lipase Deficiency	Ascites, Dehydration	ORPHA:275761
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal...	ORPHA:54595
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
1P36 Deletion Syndrome	Microcephaly, Hemiplegia/hemiparesis, Obesity, Gait disturbance, Failure to thrive, Agenesis of c...	ORPHA:1606
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Failure to thrive, Hydrocephalus	OMIM:300373
Bartter Syndrome, Type 1, Antenatal	Paresthesia, Polyhydramnios, Dehydration	OMIM:601678
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Agenesis of corpus callosum	OMIM:618419
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology	ORPHA:464321
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypertonia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Jacobsen Syndrome	Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2308
Yunis-Varon Syndrome	Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Seve...	ORPHA:3472
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Bartter Syndrome Type 4	Dehydration, Polyhydramnios, Clumsiness	ORPHA:89938
Wolf-Hirschhorn Syndrome	Small for gestational age, Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular...	OMIM:194190
Perlman Syndrome	Agenesis of corpus callosum, Large for gestational age	OMIM:267000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Impaired pain sensation, Inability to walk, Hypoplasia of t...	ORPHA:352665
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere...	ORPHA:2273
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Acrocallosal Syndrome	Failure to thrive, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Degcags Syndrome	Small for gestational age, Microcephaly, Vocal cord paralysis, Failure to thrive, Agenesis of cor...	OMIM:619488
Monosomy 9P	Hypertonia, Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Holoprosencephaly 9	Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus ...	OMIM:610829
Mowat-Wilson Syndrome	Focal cortical dysplasia, Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar ...	ORPHA:2152
Proximal Renal Tubular Acidosis	Polydipsia, Dehydration	ORPHA:47159
Microphthalmia With Linear Skin Defects Syndrome	Absent septum pellucidum, Microcephaly, Hydrocephalus, Failure to thrive, Agenesis of corpus call...	ORPHA:2556
Rubinstein-Taybi Syndrome 1	Incoordination, Small for gestational age, Microcephaly, Unsteady gait, Poor coordination, Trunca...	OMIM:180849
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Severe Generalized Junctional Epidermolysis Bullosa	Edema, Dehydration	ORPHA:79404
Multiple Endocrine Neoplasia Type 1	Anorexia, Dehydration	ORPHA:652
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum, Difficulty walking	OMIM:618748
Lipoid Proteinosis	Nasal polyposis	ORPHA:530
Baller-Gerold Syndrome	Optic nerve hypoplasia, Hydrocephalus, Chiari malformation, Polymicrogyria, Agenesis of corpus ca...	OMIM:218600
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Dysmetria	OMIM:620185
Norrie Disease	Failure to thrive, Clonus, Cachexia, Microcephaly, Hypertonia, Aplasia/Hypoplasia of the cerebell...	ORPHA:649
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Abnormality of the nose	ORPHA:2869
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thin corpus callosum, Partial agenesis of the corpus callosum, Torticollis	OMIM:619480
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Somatic sensory dysfunction, Abnormal central motor ...	ORPHA:3385
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Obesity, Chiari type I malformation, Chiari malformation, ...	ORPHA:353277
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Focal Dermal Hypoplasia	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Microcephaly	OMIM:305600
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Coffin-Siris Syndrome 1	Microcephaly, Partial agenesis of the corpus callosum, Gait ataxia, Hypoplasia of the corpus call...	OMIM:135900
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Cystic Fibrosis	Dehydration	OMIM:219700
Primary Ciliary Dyskinesia	Nasal congestion, Nasal polyposis, Chronic rhinitis	ORPHA:244
Eosinophilic Granulomatosis With Polyangiitis	Hemiplegia/hemiparesis, Nasal polyposis, Gait disturbance	ORPHA:183
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Dehydration	ORPHA:90794
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Peters-Plus Syndrome	Microcephaly, Hydrocephalus, Cerebral atrophy, Decreased body weight, Agenesis of corpus callosum...	OMIM:261540
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity	OMIM:619426
Townes-Brocks Syndrome	Failure to thrive, Chiari malformation, Agenesis of corpus callosum	ORPHA:857
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Incoordination, Babi...	OMIM:601992
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Witteveen-Kolk Syndrome	Small for gestational age, Poor motor coordination, Decreased response to growth hormone stimulat...	OMIM:613406
Williams Syndrome	Ataxia, Involuntary movements, Failure to thrive in infancy, Atrophy/Degeneration involving the c...	ORPHA:904
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Microcepha...	OMIM:216340
Full Nf2-Related Schwannomatosis	Unsteady gait, Remnants of the hyaloid vascular system	ORPHA:637
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Nephronophthisis 14	Cerebellar vermis hypoplasia	OMIM:614844
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Craniofacial Microsomia 1	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum	OMIM:164210
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Peutz-Jeghers Syndrome	Nasal polyposis	OMIM:175200
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Sarcoidosis	Abnormal nasal mucosa morphology, Facial palsy	ORPHA:797
Cystic Fibrosis	Nasal polyposis	ORPHA:586

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 Zfp423

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 Zfp423.

No publications found that use IMPC mice or data for Zfp423.

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MGI Allele	Allele Type	Produced
Zfp423^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Zfp423 MGI:1891217

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Electroretinography 3

X-ray

X-ray

MicroCT E18.5

X-ray

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Zfp423 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data