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Gene: Unc5c MGI:1095412

Gene Summary

Name:

unc-5 netrin receptor C

Synonyms:

B130051O18Rik, Unc5h3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Unc5c^{em2(IMPC)Rbrc}	HOM		Early adult	0.00
decreased locomotor activity		Unc5c^{em2(IMPC)Rbrc}	HET		Early adult	2.21×10^-05

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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

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Unc5c 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 Unc5c (0 diseases)
Human diseases predicted to be associated with Unc5c (1134 diseases)

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

The table below shows human diseases predicted to be associated to Unc5c by phenotypic similarity.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Lissencephaly 1	Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the br...	OMIM:607432
Spastic Paraplegia 2, X-Linked	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morp...	OMIM:312920
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Short stature, Inability to walk, Spastic paraplegia, Cerebellar hypoplasia, Periventricular nodu...	OMIM:618572
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia, Ab...	ORPHA:356
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
Periventricular Nodular Heterotopia 8	Spasticity, Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Spastic tetraplegia, Hypoplasia of the brainstem, Hypertonia, Lissencepha...	OMIM:618677
Adult Krabbe Disease	Hoffmann sign, Abnormal medulla oblongata morphology, Ataxia, Abnormal pyramidal tract morphology...	ORPHA:206448
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, Diffi...	OMIM:611252
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap...	OMIM:611603
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre...	ORPHA:284332
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Inability to walk, Unst...	OMIM:618273
Chudley-Mccullough Syndrome	Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia	OMIM:604213
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Short stature, Simplified gyral pattern, Dysmetria, Gait at...	OMIM:224050
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Difficulty walking, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia	ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism...	OMIM:615768
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Spastic tetraplegia, Hypoplasia of the brainstem, Hypertonia, Lissencephaly, ...	OMIM:618730
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Atrophy/Degeneration affecting the brainstem...	OMIM:617862
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial...	OMIM:611694
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi...	OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Growt...	OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent...	OMIM:608029
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal cerebellum morphology, Simplified gyral pattern, Abnormal neuron morphology	ORPHA:329228
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi...	OMIM:302500
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Huntington Disease-Like 1	Cerebellar atrophy, Abnormal head movements, Restlessness, Incoordination, Involuntary movements,...	ORPHA:157941
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern	OMIM:613402
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat...	OMIM:607259
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ...	ORPHA:2572
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Polymicrogyria	OMIM:618973
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri...	OMIM:611302
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi...	ORPHA:352682
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia, Intraut...	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to w...	OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Iron accumulation in substa...	OMIM:619389
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Spasticity	ORPHA:356996
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Lower limb spasticity, Upper limb spasticity, Inability to walk	OMIM:618468
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Lissencephaly 4	Short stature, Babinski sign, Simplified gyral pattern, Growth delay, Hypertonia, Lissencephaly, ...	OMIM:614019
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ataxia, Spastic tetraparesis, Inability to walk, Hypoplasia of the brainstem, Cerebellar hypoplas...	OMIM:616486
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Trem...	OMIM:610185
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Hemiparesis, Hypoplasia of the brainstem...	OMIM:610031
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande...	OMIM:619028
Nescav Syndrome	Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Spasticity...	OMIM:614255
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Ataxia, Gait disturbance	ORPHA:1178
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Hypertonia, Upper limb spasticity	OMIM:613925
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque...	ORPHA:370980
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Truncal ataxia	OMIM:611726
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Subcort...	OMIM:615191
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums...	ORPHA:399
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A...	OMIM:614831
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Ankle flexion contracture, Inability to walk, Babinski sign, Spastic tetraplegia, ...	OMIM:616657
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D...	ORPHA:401820
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Spasticity, Aggressive behavior	OMIM:615493
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy...	OMIM:220200
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm...	OMIM:617145
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss o...	OMIM:617916
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent...	OMIM:605361
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,...	ORPHA:98764
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Axonal loss...	ORPHA:1175
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Aggressiv...	OMIM:617225
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)	Frontal polymicrogyria, Broad-based gait, Hypoplasia of the pons, Babinski sign, Perisylvian poly...	OMIM:606854
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Joubert Syndrome 24	Ataxia, Dysmetria, Gait disturbance, Cerebellar hypoplasia, Spasticity, Pachygyria, Polymicrogyria	OMIM:616654
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus	OMIM:619303
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Spastic tetraparesis	OMIM:618741
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokine...	OMIM:248900
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle cl...	OMIM:617435
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk...	ORPHA:71517
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Waddling gait, Short stature, Babinski sign, Spasticity	OMIM:619090
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Inability to walk...	OMIM:618276
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio...	OMIM:162350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Camos Syndrome	Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Spast...	ORPHA:83472
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...	ORPHA:101070
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors	OMIM:619405
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Decreased body weight	OMIM:616311
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Peri...	ORPHA:300573
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 69	Spasticity, Ataxia, Cerebellar hypoplasia	OMIM:618383
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas...	OMIM:617622
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Hoffmann sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, B...	OMIM:618438
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth d...	OMIM:619738
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Intrau...	OMIM:615411
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Atrophy/Degenerati...	OMIM:619862
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Dysphagia, Gait ataxia, Limb ataxia, Cogwheel rigidity, Prog...	OMIM:607346
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ...	ORPHA:397946
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Subcortical...	OMIM:615771
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygy...	OMIM:300067
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo...	OMIM:256731
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Gordon Holmes Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Primary amenorrhea, Secondary ...	OMIM:212840
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Clumsiness	OMIM:610003
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady...	ORPHA:248111
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Short stature, Periventricular heterotopia, Hypoplasia of the pons, Simplifie...	OMIM:616171
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Intrauterine growth retardation, Ataxia, Cerebellar hypoplasia	OMIM:616917
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve...	ORPHA:98
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Leukodystrophy, Hypomyelinating, 14	Growth delay, Spasticity, Cerebellar atrophy	OMIM:617899
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg...	OMIM:618088
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Babinski sign, Abnormality of neuronal migration, Hypoplasia of the brainstem, Cer...	OMIM:608840
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ataxia, Abnormality of neuronal migration	OMIM:618709
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait...	OMIM:210000
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Schizophrenia 15	Hyperactivity	OMIM:613950
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cryptorchidism, Gait ataxia, Self-injurious behavi...	OMIM:618917
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617562
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, ...	ORPHA:329284
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Short stature, Ataxia, Impaired pain sensation, Abnormal cerebellum...	ORPHA:1532
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypoplasia of the b...	OMIM:618174
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Microcephaly 17, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hyperto...	OMIM:617090
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro...	ORPHA:247815
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tre...	ORPHA:1170
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia	OMIM:143100
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Cerebellar hypoplasia	ORPHA:171703
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Abnormal cerebellum morphology, Babinski sign, Growth delay, Difficulty walking, Spasticity	OMIM:618242
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia	OMIM:617207
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100989
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebellar verm...	OMIM:613811
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, D...	ORPHA:330050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Difficulty walking	OMIM:619425
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia	OMIM:610951
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia	OMIM:618879
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus...	OMIM:619470
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Cryptorchidism, Growth delay, Athetosi...	OMIM:619310
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue	ORPHA:71529
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Tremor, Abnormal pyramidal tract morphology, Babinski si...	ORPHA:83629
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent f...	OMIM:301020
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Atrophy/Degeneration affecting the brai...	OMIM:617954
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p...	OMIM:614409
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at...	OMIM:617560
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,...	OMIM:616981
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins...	ORPHA:139480
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Ce...	OMIM:619971
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe...	OMIM:619686
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Hypogonadotropic hypogonadi...	OMIM:607694
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Broad-based gait, Short stature, Babinski sign, Abnormal pyramidal si...	ORPHA:363429
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Babinski sign, Sensory ataxia, Gait ataxia, Atrophy/Degenerati...	ORPHA:445062
Joubert Syndrome 32	Ataxia, Abnormal cerebellum morphology, Oculomotor apraxia, Polymicrogyria, Molar tooth sign on MRI	OMIM:617757
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Short stature, Truncal ataxia	OMIM:613612
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidi...	OMIM:607136
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe...	ORPHA:314603
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Short stature, Spastic tetraparesis, Inability to walk, Growth delay, Dandy-W...	ORPHA:438178
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp...	OMIM:618369
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy	OMIM:613909
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Dystonia...	OMIM:615889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel...	OMIM:615181
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia	OMIM:612020
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607250
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainste...	OMIM:619301
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa...	OMIM:615157
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia...	ORPHA:251347
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Growth delay, Inability to walk, Spasticity, Cerebellar atrophy	OMIM:617086
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li...	OMIM:616212
Lissencephaly 2	Hypoplasia of the pons, 4-layered lissencephaly, Lissencephaly, Cerebellar hypoplasia	OMIM:257320
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic gait, Spastic par...	ORPHA:251282
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100999
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, D...	OMIM:302800
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysph...	ORPHA:289494
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor	ORPHA:98771
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia	OMIM:617915
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls, Ce...	OMIM:619054
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Short stature, Tremor, Abnormal cerebellum morphology, Abnormality ...	OMIM:300957
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Tip-toe gait, Progressive spastic parap...	ORPHA:496689
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor ...	ORPHA:79263
Familial Congenital Mirror Movements	Cerebral palsy, Clumsiness, Poor fine motor coordination, Abnormal corticospinal tract morphology...	ORPHA:238722
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, B...	ORPHA:320391
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm...	ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Simplified gyral pattern, Gait ataxi...	OMIM:620208
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Corticospinal tract hypoplasia, Agene...	ORPHA:255138
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Babinski sign, Spastic tetraplegia, Dysmetria, Progressive spasticity, Atroph...	OMIM:618404
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Short stature, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordina...	OMIM:617695
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Abnormality of extrapy...	OMIM:236792
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal tract hypoplasia, Spasticit...	OMIM:307000
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis...	OMIM:300623
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Leber Congenital Amaurosis	Encephalocele, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of t...	ORPHA:65
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171863
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Hypoplasia of the brainstem, Cere...	OMIM:613155
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,...	OMIM:609583
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171612
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Gait ataxia	ORPHA:438134
Episodic Ataxia Type 6	Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia	ORPHA:209967
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin...	OMIM:159550
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, ...	OMIM:614877
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio...	ORPHA:100973
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Short stature, Babinski sign, Spastic dysarthria, Difficulty w...	ORPHA:280763
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity	ORPHA:71526
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babinski sign, ...	OMIM:616680
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ata...	OMIM:610743
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O...	ORPHA:280234
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Inability to walk, Short stature, Cerebellar vermis atrophy	OMIM:616721
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:618141
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Atrophy/Degeneration affecting the b...	OMIM:617493
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ...	ORPHA:33543
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo...	OMIM:183090
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati...	OMIM:604360
Hartnup Disorder	Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder	OMIM:234500
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A...	ORPHA:458803
Ravine Syndrome	Failure to thrive, Ataxia, Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affectin...	ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation	OMIM:616521
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis, Motor tics	OMIM:615483
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit...	OMIM:611390
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Self-injurious behavior, Athetosis, Cerebellar h...	OMIM:619922
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Hypoplasia of the pons, Rigid...	ORPHA:98760
Episodic Ataxia, Type 6	Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ...	OMIM:612656
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Progressive sp...	ORPHA:527497
Frontotemporal Dementia	Polyphagia, Parkinsonism, Disinhibition, Inappropriate laughter	OMIM:600274
Perrault Syndrome 1	Cerebellar atrophy, Short stature, Ataxia, Spastic diplegia, Primary amenorrhea, Gait ataxia, Int...	OMIM:233400
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnor...	OMIM:614381
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Truncal a...	ORPHA:276198
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
14Q11.2 Microduplication Syndrome	Aggressive behavior, Slurred speech, Obesity, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:261229
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Truncal ataxia, Dysmetria, Progressiv...	OMIM:183086
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal...	OMIM:617672
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Impulsivity, Aggressive behavior, Postural tremor, Akin...	OMIM:607454
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Short stature, Tremor, Hyperkinetic movements, Upper limb spasticity, ...	ORPHA:457240
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, D...	OMIM:614487
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Bruxism, Growth delay, Choreoathetosis, Cerebellar hypoplasia, Dysphagi...	OMIM:619422
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Sandhoff Disease, Adult Form	Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity	ORPHA:309169
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De...	OMIM:270550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia,...	ORPHA:98768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Unsteady gait, Abnormal pyramidal sign, Bab...	OMIM:616479
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc...	OMIM:618060
6Q16 Microdeletion Syndrome	Broad-based gait, Poor coordination, Obesity, Abnormal temper tantrums, Polyphagia	ORPHA:171829
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Atrophy/Degene...	OMIM:271245
Spinocerebellar Ataxia, Autosomal Recessive 28	Cerebellar vermis hypoplasia, Short stature, Truncal titubation, Abnormal pyramidal sign, Gait at...	OMIM:618800
Joubert Syndrome 10	Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:300804
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para...	ORPHA:444099
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
East Syndrome	Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia, Acti...	ORPHA:199343
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Spastic Paraplegia 8, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:603563
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Gray ma...	OMIM:207950
Lissencephaly 8	Appendicular spasticity, Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainst...	OMIM:617255
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Brad...	OMIM:300894
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Babinski sign, Un...	ORPHA:98761
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ...	ORPHA:284289
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Abnormal brainstem morphology, Falls, Myoclonus	ORPHA:2382
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent...	ORPHA:352582
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Severe temper tantrums, Ataxia, Dysmetria, Gait ataxia, Attention deficit hyp...	OMIM:614306
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Spasticity, Pachygyria, Agyria	ORPHA:1084
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:300049
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Spasticity	OMIM:615924
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Disproportionate short-lim...	ORPHA:2772
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicrogyria, Rhombencephalos...	ORPHA:280195
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls	OMIM:615217
Crome Syndrome	Short stature, Cerebellar dysplasia	OMIM:218900
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:618384
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Short stature, Babinski sign, Sensory ataxia, Gait ataxia, Atrophy/Degenerati...	OMIM:616192
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Ocul...	ORPHA:467166
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Spasticity	ORPHA:599373
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Simplified gyral pattern, Hypertonia, Cerebellar hemisphere hypoplasia, Intra...	OMIM:615095
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell...	ORPHA:313772
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia...	OMIM:137440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria	OMIM:618098
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ...	ORPHA:370959
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe...	ORPHA:401901
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Spastic Paraplegia 3, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:182600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Peripheral axonal neuropathy, Neurogenic bladder, Babinski sign, Abnormal pyr...	ORPHA:513436
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Cerebellar vermis atrophy	ORPHA:97
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Short stature, Dysmetria, Intrauterine growth retardation, Spasticity, Polymi...	OMIM:301006
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav...	ORPHA:382
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ...	OMIM:619150
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, A...	OMIM:616267
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor...	ORPHA:500180
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Spastic tetraparesis, Progressive spastic paraparesis, Growth...	ORPHA:496756
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Dystonia, Head tit...	OMIM:312080
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox...	ORPHA:228402
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Short stature, Spastic paraparesis	OMIM:312910
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di...	OMIM:616505
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia	OMIM:608097
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Short stature, Ataxia, Postural tremor, Impaired distal proprioception, Hypogonadotropi...	ORPHA:447896
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Gait disturbance, Olig...	ORPHA:412057
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat...	ORPHA:542310
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Spasticity, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity	OMIM:618406
Spinocerebellar Ataxia 47	Ataxia, Short stature, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Neuropathy, Ataxia, And Retinitis Pigmentosa	Corticospinal tract atrophy, Ataxia	OMIM:551500
Joubert Syndrome 20	Aggressive behavior, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Self-mutilation	OMIM:614970
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Unsteady gait, Ataxia	OMIM:300861
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas...	ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100993
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the ce...	ORPHA:1192
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan...	ORPHA:276244
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Short stature, Abnormality of neuronal migration, Hypertonia, Aplasia/Hypoplasia of the cerebellu...	ORPHA:2518
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612716
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Severe short stature, Ataxia, Dystonia, Abnormal pyramidal sign, Athetosis, D...	OMIM:617951
Obesity And Hypopigmentation	Polyphagia, Obesity	OMIM:620195
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, My...	ORPHA:263516
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti...	OMIM:619556
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Skin-...	OMIM:615547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Hypoplasia of the pyramidal tract, Hydrocephalus, Op...	OMIM:253800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A...	ORPHA:3077
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac...	OMIM:301029
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Symmetrical Thalamic Calcifications	Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration	ORPHA:1314
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkin...	OMIM:271980
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Spastic tetraparesis, Simplified gyral pattern, Abnormality of neuronal migration, Hemiparesis, G...	OMIM:604317
Obesity Due To Sim1 Deficiency	Polyphagia, Obesity, Attention deficit hyperactivity disorder	ORPHA:369873
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Cogwheel rigidity, Bradykinesia, Distal sensory impairment, Paresthes...	ORPHA:254886
Spastic Paraplegia 4, Autosomal Dominant	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	OMIM:182601
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Hypoplasia of the brainstem, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Narp Syndrome	Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, M...	ORPHA:644
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance...	ORPHA:216866
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Dystonia, Clonus, Babinski sign, Progressive cerebellar ataxia, Substantia ni...	OMIM:618868
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Abnormal pyramidal sign, Lissencephaly, Mild short stature, Sp...	OMIM:614833
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Inte...	OMIM:612674
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability...	ORPHA:3095
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Dysphagia, Gait distu...	ORPHA:508093
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behav...	OMIM:617270
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykine...	ORPHA:225147
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia...	ORPHA:276241
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Developmental And Epileptic Encephalopathy 106	Postnatal growth retardation, Cerebellar hypoplasia, Limb hypertonia	OMIM:620028
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal...	ORPHA:64753
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski sign, Impaired ...	ORPHA:171617
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Growth delay, Choreoathetosis, Abnorma...	OMIM:615673
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Christianson Syndrome	Cerebellar atrophy, Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Apl...	ORPHA:85278
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto...	ORPHA:363722
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetraple...	OMIM:617710
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram...	OMIM:606002
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait, Failure to thrive	OMIM:620145
Neuroferritinopathy	Abnormal dentate nucleus morphology, Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Invo...	ORPHA:157846
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Joubert Syndrome 22	Oculomotor apraxia, Intrauterine growth retardation, Agenesis of cerebellar vermis, Molar tooth s...	OMIM:615665
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Dystonia, Abnormal posturing	OMIM:304700
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titub...	ORPHA:280210
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Loss ...	OMIM:610532
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Bardet-Biedl Syndrome 9	Truncal obesity, Polydipsia, Polyphagia, Obesity	OMIM:615986
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Hemiparesis, Chiari malformation, Aplasia/Hypopla...	ORPHA:2481
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Spasticity, Polymicrogyria	OMIM:600348
Temple Syndrome	Small for gestational age, Hydrocephalus, Polyphagia, Obesity	ORPHA:254516
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, D...	ORPHA:88644
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Leptin Receptor Deficiency	Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior	OMIM:614963
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia	OMIM:193003
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Coffin-Siris Syndrome 8	Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive	OMIM:618362
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk	OMIM:614482
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia	OMIM:619780
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Myoclonus	OMIM:605899
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil...	OMIM:616269
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia	OMIM:206700
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron...	ORPHA:475
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia, Fai...	ORPHA:369939
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Episodic Ataxia Type 1	Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait	ORPHA:37612
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Molar tooth sign on MRI, Agenesi...	OMIM:619111
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Ocul...	OMIM:610688
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Hypertonia, Short stature, Abnormality of neuronal migration	ORPHA:2216
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity	ORPHA:177910
Man1B1-Cdg	Resting tremor, Broad-based gait, Truncal obesity, Cerebellar hypoplasia, Polyphagia	ORPHA:397941
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Reduced intraabdominal adipose tissue...	ORPHA:363400
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Hyperactivity, Hypertonia, Tetraplegia	OMIM:274270
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye...	ORPHA:2590
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Short stature, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Hypogonad...	OMIM:300354
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Cystinosis	Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man...	ORPHA:213
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Joubert Syndrome 3	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated super...	OMIM:608629
47,Xyy Syndrome	Male infertility, Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Abnormal brainstem ...	ORPHA:8
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,...	OMIM:618161
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Clumsiness, G...	OMIM:619259
Xq25 Microduplication Syndrome	Hyperactivity, Cerebellar hypoplasia	ORPHA:521258
Familial Cold Urticaria	Dysesthesia, Polydipsia	ORPHA:47045
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Short stature, Growth delay, Intrauterine growth retardation, Abnormal repeti...	OMIM:618347
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Cerebellar vermis hypoplasia, Gait ataxia, Hypoplasia of the brainstem, Difficu...	OMIM:617807
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Aplasia/Hypoplasia of the pyramidal tract	OMIM:619602
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Bilateral Perisylvian Polymicrogyria	Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ...	ORPHA:98889
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Inguinal hernia, Cerebral palsy, Small for gestational age, Repetitive compulsive ...	ORPHA:352490
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo...	ORPHA:391417
Luscan-Lumish Syndrome	Aggressive behavior, Slurred speech, Obesity, Chiari malformation, Polyphagia	OMIM:616831
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Landau-Kleffner Syndrome	Speech apraxia, Hyperactivity, Impulsivity, Aggressive behavior, Slurred speech, Gait ataxia, Ste...	ORPHA:98818
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea, Involuntary movements	OMIM:616939
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Hypoplasia of the brainste...	OMIM:617751
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Int...	OMIM:225790
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona...	ORPHA:163681
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Postnatal growth retardation, Ina...	ORPHA:357058
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Inguinal hernia, Aggressive behavior, Chorea, Unsteady gait...	ORPHA:485350
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia, Intention tremor	OMIM:612780
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Spastic tetraparesis, Cerebellar gliosis,...	ORPHA:35069
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia	OMIM:128235
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:617822
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, G...	OMIM:614104
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Agitation, Polyphagia, Large for gestational age	ORPHA:324575
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Torticollis, Ataxia	ORPHA:71518
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t...	ORPHA:72
Polyendocrine-Polyneuropathy Syndrome	Short stature, Ataxia, Hypogonadotropic hypogonadism, Postnatal growth retardation, Cerebellar hy...	OMIM:616113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocephalus, Gray matter...	OMIM:614643
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ...	OMIM:620327
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Classic Galactosemia	Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Dystonia, Premature ov...	ORPHA:79239
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho...	OMIM:617988
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Myelopathy...	ORPHA:139396
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinati...	ORPHA:79264
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myelomeningocele, Contracture o...	OMIM:620141
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur...	ORPHA:329308
Pediatric-Onset Graves Disease	Hyperactivity, Tremor, Hyperkinetic movements, Polydipsia, Failure to thrive, Polyphagia	ORPHA:525731
Hyperinsulinism Due To Ucp2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276556
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, C...	OMIM:618004
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting...	OMIM:619580
Hemimegalencephaly	Pachygyria, Hemiparesis, Gray matter heterotopia, Myoclonus, Polymicrogyria, Abnormal neuron morp...	ORPHA:99802
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:1980
Huntington Disease-Like 3	Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr...	ORPHA:157946
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
8p23.1 deletion syndrome	Hyperactivity, Congenital diaphragmatic hernia	DECIPHER:39
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ...	OMIM:610217
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia...	ORPHA:572798
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu...	ORPHA:220497
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ...	OMIM:607485
Whipple Disease	Ataxia, Anorexia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Polydipsia	ORPHA:3452
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Secondary Non-Traumatic Avascular Necrosis	Abnormality of connective tissue, Addictive alcohol use, Difficulty walking	ORPHA:399180
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Polymicrog...	ORPHA:370997
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276575
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthoto...	OMIM:103050
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a...	OMIM:618249
Joubert Syndrome 16	Encephalocele, Oculomotor apraxia, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Mac...	ORPHA:899
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Agitation, Polyphagia, Large for gestational age	ORPHA:276580
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv...	ORPHA:95433
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Postnatal growth retardation, Abnormal pyramidal sign, Cer...	ORPHA:453533
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Postnatal growth retardation, P...	OMIM:620242
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Chromosome Xq25 Duplication Syndrome	Hyperactivity, Cerebellar hypoplasia	OMIM:300979
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum, Simplified gyral pattern, Ataxia	OMIM:620047
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C...	OMIM:300486
Teratoma, Pineal	Hemiparesis, Polydipsia	OMIM:273120
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal repe...	ORPHA:572013
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Self-injurious behavior, Cerebellar hypoplasia, Intrauterine growth retarda...	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Truncal obesity, Bruxism, Inferior cerebellar vermis hypoplasia, Recurrent hand fl...	OMIM:613192
Septo-Optic Dysplasia Spectrum	Aplasia/Hypoplasia of the cerebellum, Hemiplegia/hemiparesis, Polydipsia, Obesity	ORPHA:3157
Joubert Syndrome 18	Molar tooth sign on MRI, Intrauterine growth retardation, Occipital encephalocele, Agenesis of ce...	OMIM:614815
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio...	ORPHA:447753
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity	OMIM:609924
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Myoclonus, Tongue fasciculations, Dysphagia, Difficu...	OMIM:159950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Tremor, Inabi...	OMIM:615356
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturban...	ORPHA:168491
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia, Failure to thrive, Chondrocalcinosis	OMIM:263800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I ...	OMIM:618476
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Vici Syndrome	Hypoplasia of the pons, Gray matter heterotopia, Short stature, Cerebellar hypoplasia	ORPHA:1493
Brain-Lung-Thyroid Syndrome	Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A...	ORPHA:209905
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys...	ORPHA:240094
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Obesity	OMIM:617885
Episodic Ataxia Type 4	Abnormal head movements, Frequent falls, Incoordination, Ataxia	ORPHA:79136
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Dysphagia, ...	ORPHA:412217
X-Linked Adrenoleukodystrophy	Hyperactivity, Incoordination, Somatic sensory dysfunction, Aggressive behavior, Paralysis, Parap...	ORPHA:43
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Spasticity, Broad-based gait, Aggressive behavior	ORPHA:457260
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Spasticity, Ataxia, Tremor	OMIM:278780
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Myoclonus, Dysphagia, Loss of...	OMIM:607426
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic qu...	OMIM:207800
Marchiafava-Bignami Disease	Ataxia, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Addicti...	ORPHA:221074
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Primary amenorrhea, Growth delay, ...	ORPHA:502423
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Gangliocytoma	Abnormal cerebellum morphology, Polyphagia, Paresthesia, Abnormal brainstem morphology	ORPHA:251937
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance...	OMIM:300986
Bardet-Biedl Syndrome 17	Polydipsia, Poor coordination, Obesity	OMIM:615994
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Cerebellar hypoplasia	OMIM:615190
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Ocu...	ORPHA:220493
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor...	ORPHA:240085
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Br...	OMIM:243910
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Failure to thrive, Spasticity, Aggressive behavior	OMIM:615286
Insulinoma	Tremor, Increased body weight, Paresthesia, Abnormality of pain sensation, Polyphagia	ORPHA:97279
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Ataxia, Unsteady gait	OMIM:615919
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Short stature, Ataxia	ORPHA:1368
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Joubert Syndrome 31	Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia	OMIM:617761
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Decreased body weight, Spasticity	OMIM:300958
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Polydipsia, Cerebral palsy, Spastic paraplegia	ORPHA:369929
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Failure to thrive	OMIM:304800
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Oculomotor ...	ORPHA:1454
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Babinski sign, Spastic paraplegi...	ORPHA:171629
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum...	ORPHA:206443
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus...	OMIM:614424
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ...	ORPHA:845
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	OMIM:606407
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Joubert Syndrome 27	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia	OMIM:617120
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Spasticity, Ataxia, Cataplexy	OMIM:604121
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Short stature, Ataxia, Tremor, Abnormality of neuronal migration, G...	ORPHA:2754
Holoprosencephaly 14	Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, P...	OMIM:619895
Brain Small Vessel Disease 2	Subcortical heterotopia, Spastic tetraplegia, Growth delay, Hemiplegia, Polymicrogyria	OMIM:614483
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dyspha...	OMIM:254900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes...	ORPHA:98794
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Clumsiness, Agitation	OMIM:300558
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Postnatal growth retardation, Inabilit...	ORPHA:300570
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Olivopontocerebel...	OMIM:146500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,...	OMIM:245348
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hype...	OMIM:616271
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ...	OMIM:617600
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Hiatus hernia, Spasti...	OMIM:609727
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Slc35A2-Cdg	Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Spastic tetraparesis, Inability ...	ORPHA:356961
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Agenes...	OMIM:601853
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Congenital Disorder Of Glycosylation, Type Ie	Tremor, Pontocerebellar atrophy, Ataxia	OMIM:608799
Joubert Syndrome 33	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:617767
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Abnormal repetitive mannerism...	ORPHA:500159
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Head tremor, Atrophy/Degeneration affe...	ORPHA:314404
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R...	ORPHA:442835
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Hyperkinet...	OMIM:617302
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Joubert Syndrome 15	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Exencephaly	OMIM:614464
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Abnormality of pai...	ORPHA:544254
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor	OMIM:231950
Intellectual Developmental Disorder, Autosomal Dominant 1	Cerebellar vermis hypoplasia, Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate...	OMIM:156200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cerebellar dysplasia, Partial absence of cerebellar vermis, Hydrocephalus, Hypopla...	OMIM:613150
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Restlessness, Ataxia, Tremor, Rigidity, Tetraparesis	OMIM:617186
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Joubert Syndrome 39	Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Mo...	OMIM:619562
Ochoa Syndrome	Polydipsia	ORPHA:2704
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuronal migration, Macr...	ORPHA:2671
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Self-mutilation	ORPHA:52503
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Intellectual Developmental Disorder, Autosomal Dominant 64	Growth delay, Periventricular nodular heterotopia, Hypertonia, Cerebellar hypoplasia	OMIM:619188
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti...	OMIM:619092
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Nephrogenic Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia	ORPHA:223
Fg Syndrome 3	Chiari type I malformation, Hyperactivity, Joint contracture	OMIM:300406
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dysp...	OMIM:261640
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia	OMIM:617397
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ...	OMIM:216360
Joubert Syndrome 37	Oculomotor apraxia, Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI	OMIM:619185
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Joubert Syndrome 28	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:617121
Erdheim-Chester Disease	Abnormal cerebellum morphology, Polydipsia, Ataxia, Weight loss	ORPHA:35687
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno...	ORPHA:280219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss...	OMIM:615287
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
3C Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Abnormality of neuronal migration, Ap...	ORPHA:7
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
New-Onset Refractory Status Epilepticus	Cerebellar edema, Abnormal head movements	ORPHA:363558
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Joubert Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Brainstem dys...	OMIM:213300
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Abnormal pons morphology, Hyperactivity, Aggressive behavior	ORPHA:85327
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Short stature, Postnatal growth retardation, Hypoplasia of the pons, Si...	OMIM:300749
Joubert Syndrome 7	Encephalocele, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Mola...	OMIM:611560
Galloway-Mowat Syndrome	Short stature, Aqueductal stenosis, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hy...	ORPHA:2065
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Abnormal dental enamel morphology, Obesity, Myoclonus, Polyphagia	ORPHA:251004
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Hydrocephalus, Oculomo...	OMIM:608091
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Edinburgh Malformation Syndrome	Hydrocephalus, Hypertonia, Abnormality of neuronal migration	ORPHA:1895
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly	ORPHA:93274
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,...	OMIM:610042
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Apparent Mineralocorticoid Excess	Polydipsia, Failure to thrive	ORPHA:320
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Periventricular nodular heterotopia, Cerebellar vermis hypoplasia	OMIM:619135
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Obesity	OMIM:609734
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br...	OMIM:619306
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Severe short stature, Olivopontocerebellar hypoplasia, Hypoplasia of the pons...	ORPHA:468631
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Impaired temperature sensation, Flexion contracture, Increased body weight, Abdomina...	ORPHA:398069
Desmosterolosis	Severe short stature, Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neurona...	ORPHA:35107
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te...	OMIM:616586
Joubert Syndrome 38	Cerebellar vermis hypoplasia, Short stature, Oculomotor apraxia, Inferior cerebellar vermis hypop...	OMIM:619476
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym...	ORPHA:157
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Short stature, Spastic tetraplegia, Gray ma...	OMIM:620024
Weaver Syndrome	Inguinal hernia, Slurred speech, Poor fine motor coordination, Hypertonia, Cerebellar hypoplasia,...	OMIM:277590
Coffin-Lowry Syndrome	Short stature, Abnormality of neuronal migration, Hypertonia, Gait disturbance, Progressive spast...	ORPHA:192
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Coach Syndrome 3	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:619113
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Obesity	ORPHA:66628
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Impaired pain sensation, Obesity, Camptodactyly, ...	ORPHA:412035
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist...	ORPHA:765
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt...	ORPHA:75857
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Cerebellar vermis hypoplasia, Polymicrogyria	OMIM:619775
Autosomal Recessive Primary Microcephaly	Growth delay, Gray matter heterotopia, Pachygyria, Short stature	ORPHA:2512
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Abnormality of neuronal migration	ORPHA:2204
Obesity Due To Leptin Receptor Gene Deficiency	Polyphagia, Obesity	ORPHA:179494
Joubert Syndrome 8	Occipital encephalocele, Ataxia, Oculomotor apraxia, Obesity, Hypertonia, Molar tooth sign on MRI	OMIM:612291
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Cryptorchidism, Abnormal posturing	OMIM:614857
Renal Hypoplasia	Polydipsia, Small for gestational age	ORPHA:93101
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:98793
Myopathy, Mitochondrial, And Ataxia	Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Distal se...	OMIM:617675
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Broad-based gait, Lower limb spasticity, Aggressive behavior, Hypertonia, Polyphagi...	ORPHA:251028
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress...	OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Oral-pharyngeal dysphagia, Postnatal gr...	OMIM:300966
Oligomeganephronia	Polydipsia, Small for gestational age, Congenital diaphragmatic hernia	ORPHA:2260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:177904
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Cerebral Palsy, Spastic Quadriplegic, 3	Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Spasticity	OMIM:617008
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, S...	ORPHA:177901
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Ab...	ORPHA:79139
Sim1-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrum...	ORPHA:398079
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Saccharopinuria	Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav...	ORPHA:98754
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Sandifer Syndrome	Abnormal head movements, Abnormal posturing, Torticollis	ORPHA:71272
Hyperparathyroidism, Neonatal Severe	Polydipsia, Failure to thrive	OMIM:239200
Tetrasomy 18P	Gait disturbance, Abnormality of neuronal migration	ORPHA:3307
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy	OMIM:313200
Nephronophthisis 4	Polydipsia	OMIM:606966
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp...	OMIM:615574
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Cerebellar vermis hypoplasia, Short stature, Ataxia	ORPHA:314679
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Clumsiness, Progressive gait ataxi...	OMIM:105830
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia	OMIM:617201
Orofaciodigital Syndrome Xvi	Ataxia, Inability to walk, Gray matter heterotopia, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617563
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel...	OMIM:610188
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Fragile X Syndrome	Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand...	OMIM:300624
Friedreich Ataxia 2	Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul...	OMIM:601992
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Abnormal cortical gyration, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive R...	ORPHA:314647
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Short stature, Ataxia, Tremor, Bilateral cryptorchidism, Cryptorchidism, Gait ataxia, Growth dela...	OMIM:300998
Prader-Willi Syndrome	Failure to thrive in infancy, Impaired pain sensation, Poor gross motor coordination, Obesity, Po...	OMIM:176270
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A...	OMIM:234200
Thanatophoric Dysplasia	Gray matter heterotopia, Intrauterine growth retardation, Hydrocephalus, Disproportionate short-l...	ORPHA:2655
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Premature ova...	OMIM:212065
Smith-Magenis Syndrome	Corticospinal tract hypoplasia, Gait disturbance, Impaired pain sensation	ORPHA:819
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,...	OMIM:168600
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst...	ORPHA:646
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Hypertonia, Abn...	ORPHA:404448
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Abnormal central motor function	ORPHA:91351
X-Linked Acrogigantism	Increased body mass index, Polyphagia, Ataxia	ORPHA:300373
Vici Syndrome	Postnatal growth retardation, Abnormal posturing, Cerebellar vermis hypoplasia, Dysphagia	OMIM:242840
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy...	OMIM:168605
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI	ORPHA:166024
Parathyroid Carcinoma	Weight loss, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis	ORPHA:143
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Nephronophthisis 1	Polydipsia	OMIM:256100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym...	ORPHA:228308
Ogden Syndrome	Abnormal head movements, Torticollis, Postnatal growth retardation, Cryptorchidism, Hypertonia, S...	ORPHA:276432
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Hypertonia, Spastic parap...	ORPHA:760
Nephronophthisis 3	Polydipsia	OMIM:604387
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Short stature, Ataxia, Periventricular heterotopia, Hydrocephalus, Intrauterine g...	OMIM:619833
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Short stature, Ataxia, Postnatal growth retardation, Dysmetria, Delayed puberty	OMIM:616263
12Q14 Microdeletion Syndrome	Tremor, Intrauterine growth retardation, Chiari malformation, Short stature	ORPHA:94063
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Aggressive behavior, Impaired pain sensation, Obesity, Self-injurio...	ORPHA:293987
Nephronophthisis 11	Polydipsia	OMIM:613550
Senior-Boichis Syndrome	Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:84081
Jeavons Syndrome	Abnormal head movements, Limb myoclonus	ORPHA:139431
Ocular Motor Apraxia	Oculomotor apraxia, Jerky head movements	OMIM:257550
Methanol Poisoning	Addictive alcohol use, Abnormal cerebellar cortex morphology	ORPHA:31825
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo...	ORPHA:444072
Chromosome Xq26.3 Duplication Syndrome	Polyphagia	OMIM:300942
Wolfram Syndrome	Polydipsia, Ataxia	ORPHA:3463
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Se...	OMIM:300912
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Cerebellar vermis hypoplasia, Pain insensitivity, Aggressive behav...	OMIM:620330
Young-Onset Parkinson Disease	Female sexual dysfunction, Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Male sexua...	ORPHA:2828
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph...	ORPHA:683
Joubert Syndrome 17	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia	OMIM:614615
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Facial palsy, Abnorm...	ORPHA:68
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebellar vermis hypoplasia, Exaggerated startle response, Facial-lingual fascicu...	OMIM:617281
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Dysphagia	ORPHA:537
Pyruvate Carboxylase Deficiency	Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Growth delay, Ti...	ORPHA:3008
Hyperlysinemia	Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di...	ORPHA:2203
Prader-Willi Syndrome	Impaired temperature sensation, Abdominal obesity, Attention deficit hyperactivity disorder, Fail...	ORPHA:739
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impotence, Positiv...	OMIM:105210
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot...	OMIM:616546
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Polydipsia	ORPHA:769
Hypomagnesemia 3, Renal	Polydipsia, Failure to thrive	OMIM:248250
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bra...	ORPHA:254892
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Polydipsia, Chondrocalcinosis, Dysphagia	ORPHA:99880
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Spasticity	OMIM:619694
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce...	OMIM:608594
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Postnatal growth retardation, Gray matter heterotopia...	OMIM:304050
Panhypophysitis	Polydipsia	ORPHA:95513
Joubert Syndrome 40	Molar tooth sign on MRI, Oculomotor apraxia	OMIM:619582
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Paralysis	ORPHA:18
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Gray matter heterotopia, Difficulty walking	ORPHA:531151
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, D...	ORPHA:1934
Neonatal Adrenoleukodystrophy	Short stature, Abnormality of neuronal migration	ORPHA:44
Pseudohypoparathyroidism Type 1A	Involuntary movements, Obesity, Choreoathetosis, Paresthesia, Myoclonic spasms, Enamel hypoplasia...	ORPHA:79443
Infantile Nephropathic Cystinosis	Polydipsia, Failure to thrive	ORPHA:411629
Helix Syndrome	Polydipsia	OMIM:617671
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Gitelman Syndrome	Salt craving, Paralysis, Paresthesia, Polydipsia, Failure to thrive, Chondrocalcinosis	ORPHA:358
Bohring-Opitz Syndrome	Short stature, Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Hypoplasia of the b...	OMIM:605039
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia	ORPHA:3000
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce...	OMIM:269700
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele, Oculomotor apraxia	OMIM:612285
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Abnormal midbrain morphology, Decreased body weight, Self-m...	ORPHA:314621
Pseudohypoparathyroidism Type 1C	Obesity, Paresthesia, Myoclonic spasms, Enamel hypoplasia, Polyphagia	ORPHA:79444
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short...	OMIM:187600
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha...	OMIM:615873
16P13.11 Microdeletion Syndrome	Hypertonia, Short stature, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Bartter Syndrome, Type 2, Antenatal	Small for gestational age, Paresthesia, Polydipsia, Failure to thrive, Chondrocalcinosis	OMIM:241200
Craniopharyngioma	Hydrocephalus, Polyphagia, Obesity	ORPHA:54595
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Occipital meningocele, Peri...	OMIM:277170
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li...	OMIM:615219
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Acromelic Frontonasal Dysostosis	Retrocerebellar cyst, Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia	OMIM:603671
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio...	ORPHA:297
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Tremor, Hydrocele testis, Choreoathetosis, Spasticity	OMIM:614080
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Alg11-Cdg	Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia	ORPHA:280071
Holoprosencephaly	Encephalocele, Hydrocephalus, Chorea, Abnormality of neuronal migration, Spinal dysraphism, Holop...	ORPHA:2162
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Tremor, Abnormal cerebellum morphology, Inability to walk,...	ORPHA:86309
Isolated Osteopoikilosis	Keloids, Addictive alcohol use	ORPHA:166119
Ataxia-Telangiectasia	Dystonia, Short stature, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, ...	OMIM:208900
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive	ORPHA:411634
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry...	ORPHA:261529
Radio-Tartaglia Syndrome	Tremor, Gray matter heterotopia, Ataxia, Gait imbalance	OMIM:619312
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Lethal short-limbed short stature	ORPHA:1860
Choreoacanthocytosis	Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-...	ORPHA:2388
Kallmann Syndrome	Dyspareunia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Decreased fertility, ...	ORPHA:478
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Failure to thrive	OMIM:602522
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia	OMIM:219800
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Cerebellar ...	OMIM:236670
Proximal Renal Tubular Acidosis	Failure to thrive, Polydipsia, Enamel hypomineralization	ORPHA:47159
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gy...	OMIM:615948
Williams Syndrome	Ataxia, Involuntary movements, Atrophy/Degeneration involving the corticospinal tracts, Tremor, D...	ORPHA:904
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Hiatus hernia, Unsteady gait, Poor ...	OMIM:614756
Orofaciodigital Syndrome I	Short stature, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotop...	OMIM:311200
1P36 Deletion Syndrome	Camptodactyly of finger, Hemiplegia/hemiparesis, Polyphagia, Obesity, Self-injurious behavior, Ga...	ORPHA:1606
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Multiple joint contractures, Clonus, Hair-pulling, Hyperton...	ORPHA:447997
Cockayne Syndrome A	Cerebellar atrophy, Short stature, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Severe...	OMIM:216400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Inguinal hernia	OMIM:607131
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria, Chiari malformation, Holoprosencephaly	OMIM:618820
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Oculomotor...	ORPHA:397715
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Cryptorchidism, Cerebellar hypo...	OMIM:300967
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Childhood Absence Epilepsy	Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Growth delay, Gray matter heterotopia, Pe...	OMIM:601390
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Addictive alcohol use	ORPHA:90065
Acute Lung Injury	Addictive alcohol use	ORPHA:178320
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Hypoplasia of the brainstem, Myoclonus, Cerebellar hypoplasia, Spasticity, ...	OMIM:253280
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Fasciitis, Pain insensitivity, Somatic sensory dysfunction, Impulsivi...	ORPHA:642
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hydrocep...	OMIM:210710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Jerky head movements	ORPHA:369837
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal brainstem morphology, Abnormality of neuronal migration, Birth length less than 3rd perc...	ORPHA:464311
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:601104
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Hydrocephalus, Obesity, Camptodactyly, Dysphagia, P...	OMIM:607872
Herpes Simplex Virus Encephalitis	Addictive alcohol use	ORPHA:1930
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Inability to walk	ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)	Unsteady gait, Gray matter heterotopia, Loss of ambulation, Frequent falls, Polymicrogyria	OMIM:214100
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Lissencephaly, Intrauterine growth retardation, Pachygyria, Agyria, Prog...	OMIM:247200
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Short stature, Spasticity	OMIM:305450
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Spasticity	OMIM:618797
Autosomal Recessive Polycystic Kidney Disease	Polydipsia	ORPHA:731
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Cog1-Cdg	Postnatal growth retardation, Cerebellar vermis hypoplasia, Rhizomelia, Cerebellar dysplasia	ORPHA:263508
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Wilson Disease	Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Hand tremor, Face of the giant panda sig...	OMIM:277900
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Intrauter...	OMIM:236680
Ethylene Glycol Poisoning	Addictive alcohol use, Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Short stature, Periventricular heterotopia	OMIM:618870
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use	ORPHA:36238
Porphyria Cutanea Tarda	Addictive alcohol use, Scarring, Corneal scarring	ORPHA:101330
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Short stature, Periventricular heterotopia, Hydrocephalus, Gray mat...	OMIM:612289
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation, Periventricular het...	ORPHA:434179
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Short stature, Periventricular heterotopia, Hydrocephalus, Growth delay, Chia...	OMIM:270400
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Van Maldergem Syndrome 2	Growth delay, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band hete...	OMIM:615546
Pagod Syndrome	Encephalocele, Short stature, Spina bifida, Meningocele, Abnormality of neuronal migration	ORPHA:991
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Koolen-De Vries Syndrome	Gray matter heterotopia, Intrauterine growth retardation, Short stature	OMIM:610443
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker malforma...	OMIM:616300
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia	OMIM:618918
Histidinemia	Hyperactivity	ORPHA:2157
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Periventricular heterotopia	OMIM:618733
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Intrauterine growth retardation, Impaired pain sensation	ORPHA:453499
Cirrhotic Cardiomyopathy	Addictive alcohol use	ORPHA:57777
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia	OMIM:618929
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty	ORPHA:99429
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Flexion contracture, Molar tooth sign on MRI	OMIM:619479
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Growth delay, Inability to walk, Gray matter heterotopia, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Growth delay, Inability to walk, Gray matter heterotopia, Impaired pain sensation	ORPHA:352665
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Imp...	ORPHA:261537
Meckel Syndrome, Type 1	Omphalocele, Dilated fourth ventricle, Occipital encephalocele, Camptodactyly of finger, Hydrocep...	OMIM:249000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Mowat-Wilson Syndrome	Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Ata...	ORPHA:2152
Nijmegen Breakage Syndrome	Short stature, Abnormality of neuronal migration	ORPHA:647
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Imp...	ORPHA:261552
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Alström Syndrome	Somatic sensory dysfunction, Incoordination, Ataxia, Dorsocervical fat pad, Obesity, Poor fine mo...	ORPHA:64
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Genitopatellar Syndrome	Pachygyria, Periventricular heterotopia	OMIM:606170

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 Unc5c

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 Unc5c.

No publications found that use IMPC mice or data for Unc5c.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Unc5c^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Unc5c^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Unc5c^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Unc5c^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Unc5c^{em2(IMPC)Rbrc}	Exon Deletion	Mice
Unc5c^{em1(IMPC)Rbrc}	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: Unc5c MGI:1095412

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

Human diseases caused by Unc5c mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data