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Gene: Atp8a2 MGI:1354710

Gene Summary

Name:

ATPase, aminophospholipid transporter-like, class I, type 8A, member 2

Synonyms:

Ib, agil, wl

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
increased circulating glucose level		Atp8a2^em1(IMPC)J	HET		Early adult	9.54×10^-05

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X-ray

XRay Images Whole Body Dorso Ventral

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Atp8a2 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 Atp8a2 (2 diseases)
Human diseases predicted to be associated with Atp8a2 (1662 diseases)

The table below shows human diseases associated to Atp8a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4		Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Dysequilibrium Syndrome		Cerebral palsy, Ataxia, Gait disturbance	ORPHA:1766

The table below shows human diseases predicted to be associated to Atp8a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation	OMIM:212890
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P...	OMIM:620378
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Distal sensory impairment...	OMIM:601098
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, D...	OMIM:614895
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi...	OMIM:606483
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen...	ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor...	OMIM:607791
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ...	OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per...	OMIM:180800
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Ataxia, Spastic tetraparesis, Cavitating leukodystrophy	OMIM:619061
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ...	OMIM:618279
Null Syndrome	Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ...	ORPHA:280234
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista...	OMIM:607731
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa...	OMIM:607080
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelination, Hand parest...	OMIM:162500
Megalencephaly With Dysmyelination	Spasticity, Ataxia, Cerebral dysmyelination	OMIM:249240
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr...	ORPHA:101108
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p...	OMIM:182815
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal...	OMIM:610100
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa...	OMIM:611228
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai...	OMIM:609311
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Impaired d...	ORPHA:101097
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Axonal loss, Dysphagia	OMIM:300857
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensat...	OMIM:619742
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal sensory impa...	OMIM:118200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand...	OMIM:604484
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:108650
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking	OMIM:616684
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Segmental peripheral de...	OMIM:145900
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia	OMIM:617018
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Ataxia, Chronic axonal neuropathy	OMIM:260970
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond...	ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ...	OMIM:607706
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ...	ORPHA:206594
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:118220
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic a...	OMIM:615035
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Axonal loss, ...	OMIM:617672
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Peripheral demyelination, Distal sensory impairment	ORPHA:99944
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis...	OMIM:609260
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Hypermethioninemia, Dystonia	OMIM:250850
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Dysphagia, Spa...	OMIM:617892
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia	ORPHA:67046
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor	OMIM:253550
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Pallor of dorsal columns ...	OMIM:602433
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm...	OMIM:618093
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher...	OMIM:249900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Distal sensory impairment	OMIM:614369
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati...	OMIM:616437
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat...	OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,...	OMIM:605588
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cerebella...	OMIM:302800
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Cerebral atrophy	OMIM:614023
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso...	ORPHA:99953
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ...	OMIM:614436
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s...	ORPHA:101111
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Elevated circulating crea...	OMIM:618387
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Decreased number of peripheral myelinated nerve fibers, Peripheral ...	OMIM:607250
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Dysphagia	OMIM:614808
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repe...	OMIM:612069
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen...	OMIM:605285
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage...	OMIM:608340
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa...	OMIM:615376
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia	OMIM:617839
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Parkinsonism, Disinhibition, Inappropriate laughter, Neuronal loss...	OMIM:600274
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Dysphagi...	OMIM:608627
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Saccharopinuria	Citrullinuria, Tremor, Spastic diplegia, Hypercystinemia, Cystinuria, Distal sensory impairment, ...	ORPHA:3124
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,...	ORPHA:401820
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Degeneration of anterior horn cells, Myoclonus, Tongue fasciculations, Dysp...	OMIM:159950
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Dysphagia, Abnorm...	OMIM:619565
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy...	ORPHA:79299
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia	OMIM:613435
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations	OMIM:608030
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia	OMIM:240800
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial...	OMIM:618184
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Hand tremor	OMIM:253400
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Abnormality of ma...	ORPHA:97229
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis...	ORPHA:300605
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal...	ORPHA:363710
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu...	OMIM:607458
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis	OMIM:614373
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment	OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, Gait di...	OMIM:618241
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction	OMIM:612577
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 4	Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign...	OMIM:607317
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Leukodystrophy, Hyperalaninemia	OMIM:266150
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Hyperphenylalaninemia, Bh4-Deficient, C	Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Spasticity	OMIM:611895
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti...	ORPHA:431329
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Peripheral demyelination, Paraplegia	ORPHA:71211
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cereb...	ORPHA:314978
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Ataxia, CNS hypomyelination	ORPHA:88637
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Charcot-Marie-Tooth Disease, Type 4D	Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal...	OMIM:601455
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,...	OMIM:620221
Adult Krabbe Disease	Somatic sensory dysfunction, Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann ...	ORPHA:206448
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair...	OMIM:607684
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Dysp...	ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a...	ORPHA:401830
Spastic Paraplegia 30, Autosomal Dominant	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic paraplegia, Babinski sign, D...	OMIM:610357
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas...	OMIM:607596
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m...	OMIM:611637
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai...	OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance	OMIM:616155
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Short stature, Ataxia, Chorea, Babinski sign, Axonal degeneration...	OMIM:604168
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Spinocerebellar Ataxia Type 12	Postural tremor, Ataxia, Parkinsonism, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Generalized dystonia, Corpus callosum atrophy, Retinal pig...	OMIM:619389
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation, I...	OMIM:617916
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxia, S...	OMIM:614487
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia 46	Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal neuropathy	OMIM:617770
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre...	ORPHA:284332
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia	OMIM:619099
Christianson Syndrome	Cerebellar atrophy, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dys...	ORPHA:85278
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Dystonia, Cerebral cor...	ORPHA:98934
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
X-Linked Charcot-Marie-Tooth Disease Type 6	Elevated circulating creatine kinase concentration, Impaired vibration sensation in the lower lim...	ORPHA:352675
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up...	OMIM:613672
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Delayed myelination, Unsteady gait, Recurrent hypoglycemia, Gait ataxia	OMIM:618158
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio...	OMIM:609033
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Facial-...	ORPHA:276244
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro...	OMIM:615490
X-Linked Charcot-Marie-Tooth Disease Type 3	Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur...	ORPHA:101077
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, Ataxia, Parkinsonism,...	OMIM:617225
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera...	ORPHA:221091
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Delayed myelination, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Charcot-Marie-Tooth Disease Type 4A	Impaired pain sensation, Impaired distal proprioception, Decreased number of large peripheral mye...	ORPHA:99948
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Gait disturbance,...	OMIM:250100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Dysphagia, Cerebral cortical ...	OMIM:615911
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypoglycemia, Abnormal pyramidal sign, Dysmetria, Paresthesia, Motor axonal neuropathy, I...	ORPHA:48431
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tre...	ORPHA:363717
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired pain sensati...	ORPHA:3115
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Spastic Paraplegia 76, Autosomal Recessive	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Distal sensory impai...	OMIM:616907
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ...	ORPHA:1175
Pontocerebellar Hypoplasia Type 1	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue ...	ORPHA:2254
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Optic atrophy, Premature graying of hair, Sub...	ORPHA:33445
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Unsteady gait, Hypoglycemia, Myoclonus	OMIM:610090
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Elevated circulating creatine kinase concentration, Distal sensory impairment, Axonal loss, Stepp...	OMIM:614455
Lichtenstein-Knorr Syndrome	Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem g...	OMIM:300423
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai...	OMIM:607831
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Spastic tetraplegi...	OMIM:300438
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Frontal upsweep of hair, Spast...	OMIM:300983
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Insulin-resi...	ORPHA:401768
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Akinesia, Limb apraxia,...	ORPHA:454887
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Axonal loss, Gait disturbance, Myoclonus, Apraxia, Spasticity, Peripheral demyelin...	OMIM:221770
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa...	ORPHA:803
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ank...	ORPHA:521406
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Impaired d...	OMIM:604360
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor	OMIM:271150
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent...	OMIM:608029
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Rod-cone dystrophy, Abnormal posturing, Opisthotonus, We...	ORPHA:216866
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity	OMIM:616494
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat...	ORPHA:88628
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Myoclonic-Atonic Epilepsy	Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus	OMIM:616421
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Delayed CNS myelination, Ataxia, Hypoglycemia, Aminoaciduria, Recurrent hypogly...	OMIM:124000
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, S...	ORPHA:445062
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babi...	OMIM:128100
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain sensation, Babinski...	OMIM:608703
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination	ORPHA:401835
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Spinocerebellar Ataxia 49	Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormality of extrapyramida...	OMIM:619806
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ataxia, Hypoglycemia, Dystonia	OMIM:246900
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Charcot-Marie-Tooth Disease, Type 4B3	Distal sensory impairment, Gait disturbance, Loss of ambulation, Myelin outfoldings, Onion bulb f...	OMIM:615284
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo...	OMIM:600363
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ...	OMIM:610532
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Dysphagia, Abnormal upper moto...	ORPHA:247604
Huntington Disease	Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ...	ORPHA:399
Dysequilibrium Syndrome	Cerebral palsy, Ataxia, Gait disturbance	ORPHA:1766
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Glutaric Acidemia I	Hypoglycemia, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Sym...	OMIM:231670
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d...	OMIM:164500
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hyp...	OMIM:261640
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Fasci...	ORPHA:52430
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Perip...	OMIM:245200
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank...	ORPHA:90103
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm...	ORPHA:284324
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Mehmo Syndrome	Hypoglycemia, Spastic tetraparesis, Inability to walk, Babinski sign, Gait ataxia, Difficulty wal...	OMIM:300148
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ...	ORPHA:254343
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemi...	OMIM:617156
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy...	OMIM:169500
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ...	ORPHA:157941
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Somatic sensory dysfunction, Peripheral dysmyelination	ORPHA:101082
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr...	ORPHA:453521
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod...	OMIM:618688
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Abnormality of extrapyramidal mot...	OMIM:614739
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Limb dystonia	OMIM:620270
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Abnormal urinary acylglycine profile, G...	ORPHA:391417
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Cerebellar atrophy, Clonus, Delayed myelination, Chorea, Spastic tetrapl...	OMIM:613811
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ...	OMIM:233910
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce...	ORPHA:309246
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral ...	ORPHA:329284
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait disturbance, Progres...	OMIM:210000
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Ataxia	ORPHA:1186
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus	OMIM:619028
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance	ORPHA:99014
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani...	OMIM:620011
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Peripheral axonal neuropathy, Impaired distal proprioception, Tremor, Dysmyelinat...	ORPHA:137898
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Axonal degeneration, Clonus, Tongue fasciculations	OMIM:618811
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A...	OMIM:604320
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi...	OMIM:271245
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebella...	ORPHA:504476
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Delayed CNS myelination, Ataxia, Hypoglycemia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmet...	OMIM:617710
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressi...	ORPHA:248111
Tyrosinemia, Type Ii	Hypertyrosinemia	OMIM:276600
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Demyelinating sensory neuropathy, Opti...	ORPHA:101085
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o...	ORPHA:35689
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap...	OMIM:612438
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Tyrosinemia, Type Iii	Hypertyrosinemia	OMIM:276710
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han...	OMIM:162400
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia, Spastic...	ORPHA:702
Spinocerebellar Ataxia, Autosomal Recessive 26	Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ...	OMIM:617633
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokine...	OMIM:616204
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial...	OMIM:301830
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive...	ORPHA:2821
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Clumsines...	OMIM:616127
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ...	ORPHA:171629
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Bruxism, Cerebral atrophy, ...	OMIM:617435
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Tyrosinemia, Type I	Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Periodic pa...	OMIM:276700
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia...	OMIM:616719
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, R...	OMIM:616811
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Aganglionic megacolon, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, ...	ORPHA:52503
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Axonal degeneration	OMIM:618138
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Lim...	OMIM:615157
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100989
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Poor coordination, Axonal degeneration, Neurodegeneration,...	ORPHA:478029
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Intention tremor	OMIM:266130
Pyruvate Dehydrogenase E3 Deficiency	Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hyperammonemi...	ORPHA:2394
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetit...	OMIM:619470
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga...	OMIM:616795
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Unsteady gait, Fasc...	ORPHA:464282
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Short stature, Cleft palate	OMIM:162100
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Hypertonia...	ORPHA:26792
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Glutathionuria	Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Mohr-Tranebjaerg Syndrome	Dystonia, Tremor, Spasticity, Dysphagia, Abnormal posturing	OMIM:304700
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
East Syndrome	Peripheral axonal neuropathy, Ataxia, Inability to walk, Hypokalemia, Peripheral hypomyelination,...	ORPHA:199343
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Clonus, Impaired pain sensation, Abnormal spinal cord morphology, Babinski sign, Spastic parapleg...	ORPHA:139578
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le...	OMIM:607694
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty...	ORPHA:477673
Charcot-Marie-Tooth Disease And Deafness	Tremor, Distal sensory impairment, Axonal loss, Steppage gait, Gait disturbance	OMIM:118300
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Peripheral axonal neuropathy, Spastic paraplegia, Ataxia, CNS hypomyelination	OMIM:619688
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Hawkinsinuria	Hypertyrosinemia	OMIM:140350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Classic Galactosemia	Speech apraxia, Incoordination, Postural tremor, Ataxia, Hypoglycemia, Clumsiness, Gait disturban...	ORPHA:79239
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Chorioretinal dystrophy, Ataxia, Retinal dystrophy, Gait ataxia, Spinocerebel...	OMIM:215470
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypoglycemia, Abnormal pyramidal sign, Type II diabetes mellitus, Dystonia, Hypoinsulinem...	ORPHA:453533
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglyce...	ORPHA:276608
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Peripheral demyelination	OMIM:616733
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye...	ORPHA:2590
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Spasticity, Hypoglycemia, Hyperammonemia	ORPHA:6
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Cereb...	ORPHA:79263
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Cerebral cort...	OMIM:312750
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hyperto...	OMIM:619738
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Flynn-Aird Syndrome	Alopecia, Ataxia, Cachexia, Rod-cone dystrophy, Cerebral cortical atrophy	ORPHA:2047
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Head titubation, Inability to walk, Rigi...	OMIM:618877
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp...	DECIPHER:29
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign...	ORPHA:98808
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De...	OMIM:619279
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Weight loss, Failure to thrive, Cachexia, Gait ataxia	OMIM:612075
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Blepharospasm, S...	ORPHA:240094
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Cachexia, Weight loss	OMIM:613662
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athetosis, Abno...	ORPHA:280219
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Dystonia	OMIM:264470
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Distal s...	ORPHA:254886
Maple Syrup Urine Disease	Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Hypertonia, E...	OMIM:248600
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Hypermanganesemia With Dystonia 2	Limb dystonia, Generalized dystonia, Hypermanganesemia, Parkinsonism, Elevated circulating creati...	OMIM:617013
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T...	OMIM:607225
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Postural tremor, Ataxia, Elevated circulating creatine kinase concen...	ORPHA:64753
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:614116
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Babinski sign, Spastic paraplegia, Optic atrophy...	OMIM:609541
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex	OMIM:601068
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation	OMIM:615010
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive, Cerebral cortical...	OMIM:618201
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Peripheral axonal neuropathy, Ataxia, Clonus, Elevated circul...	OMIM:615673
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Elevated circulating creatine kinase conce...	ORPHA:480864
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spastic t...	ORPHA:352649
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Facial di...	OMIM:618186
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho...	OMIM:615491
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Elevated circ...	OMIM:614298
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Enhancement of the C-reflex, Myoclonus	OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ...	OMIM:117360
Hsd10 Disease, Infantile Type	Hypoglycemia, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Hyperammo...	ORPHA:391428
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Bradyk...	OMIM:300894
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Ataxia, Dysmetria, Positive Romberg sign, Gait disturbance, Abnorma...	ORPHA:94125
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto...	OMIM:606703
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Tremor, ...	OMIM:312080
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign...	ORPHA:93952
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo...	OMIM:614867
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:97279
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki...	OMIM:619725
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circul...	OMIM:616878
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Peripheral axonal neuropathy, Dystonia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:606002
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Spinocerebellar Ataxia 34	Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiado...	OMIM:133190
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Inability to walk, Limb t...	OMIM:218000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hyperammonemia, Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concentration	OMIM:618120
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Aminoaciduria,...	OMIM:619386
Spinocerebellar Ataxia Type 18	Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, He...	ORPHA:98771
Cystathioninuria	Tremor, Cystathioninuria, Cystathioninemia	ORPHA:212
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Spastic tetraplegia,...	OMIM:609136
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Cerebral atrophy, Hypertonia, Spasticity, Global brain at...	OMIM:616801
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax...	OMIM:614381
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem auditory evoked potentials, ...	ORPHA:206436
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathetosis, Dystonia, R...	OMIM:619422
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Dela...	ORPHA:3008
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Babinski sign, Scissor gait, Axonal degeneration, Optic atrophy, Ce...	OMIM:278800
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxi...	OMIM:616505
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Atypical Rett Syndrome	Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclonus, Gait a...	ORPHA:3095
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
Mulibrey Nanism	Cachexia	ORPHA:2576
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Dystonia	ORPHA:289504
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypoglycemia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus	OMIM:616113
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyram...	ORPHA:363400
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Titubation, Gait ataxia, Bradykin...	ORPHA:225147
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:1466
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Spasticity	OMIM:614702
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Optic ...	ORPHA:442835
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Alzheimer Disease 3	Neurofibrillary tangles, Gait disturbance, Dystonia, Cerebral cortical atrophy, Optic ataxia	OMIM:607822
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Ma...	ORPHA:1578
Spinocerebellar Ataxia 21	Delayed CNS myelination, Ataxia, Postural tremor, Akinesia, Parkinsonism, Limb ataxia, Gait ataxi...	OMIM:607454
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Ataxia, Hyperprolinemia, Hyperalaninemia, Neonatal hypoglycemia	OMIM:619046
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab...	OMIM:183090
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc...	OMIM:604290
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Syringomyelia, Dystonia, Myelitis	ORPHA:1320
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Vocal cord paresis, Amyotrophic lateral sclerosis, Dysphagia	ORPHA:600
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Senile plaques	OMIM:605055
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb...	ORPHA:298
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Hand tremor, Limb ataxia, Dysmetria, Tongue fasciculations...	ORPHA:276198
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Somatic sensory dysfunction, Abnormal peripheral myelination, Tremo...	ORPHA:466768
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Friedreich Ataxia	Diabetes mellitus, Inability to walk, Chorea, Babinski sign, Optic atrophy, Impaired propriocepti...	ORPHA:95
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Hypermanganesemia With Dystonia 1	Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ...	ORPHA:352641
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Developmental And Epileptic Encephalopathy 46	Tremor, Cerebral atrophy, Dysphagia, Failure to thrive, Limb hypertonia	OMIM:617162
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Babinski sign, Focal dystonia, Spastic dysarthria,...	ORPHA:447757
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia, Abnormal circulating selenium concentration	ORPHA:171706
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques	OMIM:608907
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop...	OMIM:600501
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kinetic tremor, Delayed myelination, Gait ataxia, Recurrent hypoglycemia, Truncal ataxia, Spasticity	OMIM:616817
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculations	ORPHA:1145
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi...	ORPHA:644
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Frequent falls, Impaired pain sensation, ...	ORPHA:99949
Cronkhite-Canada Syndrome	Alopecia, Anorexia, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Sparse...	ORPHA:2930
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia...	OMIM:137440
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia	OMIM:619556
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Multiple Sulfatase Deficiency	CNS demyelination, Spasticity, Ataxia, Peripheral demyelination	OMIM:272200
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Hawkinsinuria	Abnormal circulating tyrosine concentration	ORPHA:2118
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
D-Glyceric Aciduria	Delayed CNS myelination, Hypoglycemia, Optic nerve hypoplasia, Spastic tetraplegia, Nonketotic hy...	OMIM:220120
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Brain atrophy, Cerebral atrophy, Abnormal myelination	ORPHA:85179
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cog8-Cdg	Hypoglycemia, Ataxia, Myoclonus, Chronic axonal neuropathy	ORPHA:95428
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Brain atrophy, Bruxism, Spasticity, Abnormal repe...	OMIM:618718
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si...	OMIM:607483
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Elevate...	OMIM:612953
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Optic atrophy, Hyperammonemia, Loss of ambulation, Spasticity, Craniofacial dystonia	OMIM:618253
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia, Generalized hirsutism, Cachexia	ORPHA:1933
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Ataxia-Oculomotor Apraxia 3	Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, F...	OMIM:615217
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo...	OMIM:611890
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Spastic paraparesis, Palatal ...	ORPHA:909
Spinocerebellar Ataxia 6	Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,...	OMIM:183086
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia	OMIM:615651
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Impaired vibration sensation in the lower l...	ORPHA:95433
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration	OMIM:619473
Ane Syndrome	Motor neuron atrophy, Alopecia	ORPHA:157954
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia	OMIM:222730
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Low plasma citrulline, Optic at...	ORPHA:255210
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia, Decreas...	ORPHA:42
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Spastic tetraparesis, Elevated urinary S-sulfocysteine level, Spastic tetraplegia, ...	OMIM:252150
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Severe demyelination of the whit...	ORPHA:79282
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia, Spastic tetraplegia, Opisthotonus, Increased urinary taurine, Axonal loss, Hyperton...	OMIM:252160
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Mcdonough Syndrome	Synophrys, Cachexia	ORPHA:2471
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Laryngeal Neuroendocrine Tumor	Weight loss, Neuroendocrine neoplasm, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m...	ORPHA:93958
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Increased LDL chole...	OMIM:277460
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri...	ORPHA:48818
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus	OMIM:619092
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple...	OMIM:300055
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow	ORPHA:3242
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypoglycemia	OMIM:617872
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr...	OMIM:612164
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu...	OMIM:616586
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala...	OMIM:312170
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Idiopathic Achalasia	Weight loss, Dysphagia	ORPHA:930
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Hypertryptophanemia	Hypertryptophanemia, Tryptophanuria	OMIM:600627
Pulmonary Blastoma	Weight loss	ORPHA:64741
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Hemidystonia, Optic atrophy, Cerebral atrophy, Limb...	ORPHA:508093
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re...	ORPHA:1215
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypomagnesemia, Dysdiadochokinesis, Hypokalemia, Peripheral hypomyelination, Increased ci...	OMIM:612780
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Neurofibrillary tangles, Limb dystonia, Cerebral cortical atrophy	OMIM:616840
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,...	ORPHA:320375
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Lower limb spasticity, Parkinsonism, Anorexia, Aggressive behavior...	ORPHA:3077
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Intestinal edema	OMIM:106100
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Inability to w...	ORPHA:139396
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Abnormal hair pattern, Aggressive behavior, Tremor, Cachexia, Synophrys, Obesity	ORPHA:85293
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276580
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi...	OMIM:617675
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat...	OMIM:619574
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Hand tremor	ORPHA:100996
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Chorea, Spastic tetraplegia, Hypertonia, Sp...	OMIM:617864
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy...	ORPHA:35878
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory impairment, Poor f...	ORPHA:99956
3-Methylglutaconic Aciduria Type 4	Spasticity, Hypoglycemia	ORPHA:67048
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia	ORPHA:36387
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ank...	ORPHA:565624
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Optic atrophy, Dystonia, Elevated circulating glutaric acid concen...	ORPHA:66634
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Dystonia	OMIM:252011
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr...	ORPHA:276556
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Fasting hypoglyce...	ORPHA:25
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II diabetes mellitus, Spasticity	ORPHA:100
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Hemiparesis, Hypertonia, H...	OMIM:619737
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Hypoglycemia	OMIM:619048
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation	ORPHA:544254
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Propionic Acidemia	Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperglycinemia, Dystonia, Limb hypertonia	OMIM:606054
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti...	OMIM:234200
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walkin...	ORPHA:572798
2P21 Microdeletion Syndrome	Hypoglycemia, Hypocalcemia, Cystinuria	ORPHA:163693
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra...	OMIM:619260
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon...	ORPHA:293964
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Fasting hyp...	ORPHA:276575
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Self-injurious behavior, Spastic tetraplegia, Cachexia	ORPHA:371364
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Type I diabetes mellitus	ORPHA:1192
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:313200
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Fasting hypoglycemia, Gl...	ORPHA:263455
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Cherry red spot of the ...	ORPHA:845
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Titubation, Diffi...	ORPHA:280210
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Chronic Hiccup	Weight loss, Abnormal eating behavior	ORPHA:396
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervou...	OMIM:168600
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Hypertrichosis	OMIM:271225
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Cerebral palsy, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Opisthotonus...	OMIM:210210
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Tetrasomy 12P	Sparse hair, Cachexia, Sparse eyebrow	ORPHA:884
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Leigh Syndrome	Ataxia, Involuntary movements, Hypoglycemia, Chorea, Optic atrophy, Generalized aminoaciduria, Sp...	ORPHA:506
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition,...	OMIM:168605
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Impulsivity, Rigidity, Weight loss, Bradykinesia, Agitati...	ORPHA:411602
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ata...	OMIM:610217
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss	ORPHA:1979
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Tuberculosis	Weight loss	ORPHA:3389
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Brain atrophy, Bruxism, Attent...	OMIM:618342
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat...	OMIM:618527
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Diabetes mellitus, Hypoglycemia, Severe demyelination of the white matter, Dela...	ORPHA:391408
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Houge-Janssens Syndrome 1	Hypoglycemia, Gait ataxia	OMIM:616355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spast...	OMIM:616271
Classic Phenylketonuria	Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia	ORPHA:79254
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex...	ORPHA:445038
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Hypoglycemia, Tremor, Dysmetria, Hyperglycemia, Hyperammonemia, Truncal ataxia,...	OMIM:220111
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Pyridoxine-Dependent Epilepsy	Delayed CNS myelination, Hypoglycemia	ORPHA:3006
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Short stature, Hypertonia, Myoclonus, Abnormal myelination	ORPHA:289266
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Hyperbilirubinemia, Torticollis, Is...	OMIM:619475
Spastic Paraplegia 9A, Autosomal Dominant	Resting tremor, Lower limb spasticity, Corpus callosum atrophy, Hoffmann sign, Babinski sign, Spa...	OMIM:601162
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Tremor, Facial diplegia, Fasciculations, Difficulty walking, Frequent falls, Mildly...	ORPHA:329478
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Supranuclear Palsy, Progressive, 1	Axial dystonia, Akinesia, Neurofibrillary tangles, Tremor, Cerebral atrophy, Granulovacuolar dege...	OMIM:601104
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Sparse hair, Failure to th...	ORPHA:217346
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li...	OMIM:608643
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Dystonia	OMIM:256000
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal...	OMIM:263570
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H...	OMIM:105210
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral...	OMIM:620327
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Type II diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration	ORPHA:79095
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypertensive retinopathy, Tremor, Cranial nerve compression, Voca...	ORPHA:94080
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Alopecia, Nail dystrophy, Anorexia	OMIM:175500
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Clonus, Elevated circulating creatine kinase concentration, Spastic tetraplegia, Am...	OMIM:619055
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli...	ORPHA:168563
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Hyperbilirubinemia	ORPHA:713
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Aminoaciduria, Gait disturbance, Myoclonus	ORPHA:812
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Cherry red spot of the macula, Spasticity, Cerebral cort...	ORPHA:309155
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy	OMIM:268020
Jaberi-Elahi Syndrome	Appendicular spasticity, Brittle hair, Sparse eyelashes, Tremor, Sparse eyebrow, Optic atrophy, D...	OMIM:617988
Whipple Disease	Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Myoclonus, Polydipsia	ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Hypoglycemia	OMIM:617950
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Hy...	OMIM:617527
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Abnormal blood inorganic cation concentration, Rigidity, Truncal ataxia, Br...	ORPHA:309854
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus, Neonatal hypoglycemia	OMIM:617600
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemia, Optic neuro...	ORPHA:2609
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Dysphagia, Neuronal...	OMIM:600072
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Cockayne Syndrome	Dry hair, Progressive gait ataxia, Hypertonia, Retinal arteriolar constriction, Retinal degenerat...	ORPHA:191
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Aredyld Syndrome	Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Isaacs Syndrome	Fasciculations, Weight loss	ORPHA:84142
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test	OMIM:229100
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Optic atrophy, Limb hypertonia, Progressive spastic quadr...	ORPHA:521426
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Hyperglycemia, Sp...	ORPHA:134
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig...	ORPHA:2715
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hypoglycemia, Low plasma citrulline, Optic atrophy, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Broad-based gait, Ata...	OMIM:256810
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopathy, Dystonia, Cra...	OMIM:617282
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:2518
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,...	ORPHA:502423
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti...	OMIM:617281
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Premature graying of hair	ORPHA:66633
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration,...	OMIM:609454
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Bradykinesia, Dystonia, Neuronal loss in...	ORPHA:683
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia	ORPHA:2158
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Galactokinase Deficiency	Speech apraxia, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergal...	ORPHA:79237
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke...	ORPHA:2510
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Dec...	ORPHA:2388
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Long eyelashes, Dysphagia	OMIM:617301
Xfe Progeroid Syndrome	Cachexia, Poor coordination, Optic atrophy, Failure to thrive, Attenuation of retinal blood vessels	OMIM:610965
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Hypoglycemia, Opisthotonus	OMIM:210200
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuria, Spastic dipl...	ORPHA:2203
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia	ORPHA:3240
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Peho Syndrome	Optic atrophy, Myoclonus, Peripheral dysmyelination	OMIM:260565
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperammonemia, Hyperuricemia, Myoclonus, Spasticity	OMIM:246450
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Optic atrophy, Spasticity, Retinopathy	ORPHA:220295
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Hyperammonemia	OMIM:620137
Sneddon Syndrome	Tremor, Hemiplegia, Facial palsy, Impaired distal tactile sensation	OMIM:182410
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Hypoglycemia, Inability to walk by childhood/adolescence, Choreo...	OMIM:620224
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Tremor, Sparse eyebrow, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:370079
Tenorio Syndrome	Cerebral palsy, Hypoglycemia, Clumsiness, Gait disturbance, Hypoinsulinemia	OMIM:616260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Delayed CNS myelination, Hypoglycemia, Hyperammonemia, Hyperglycinemia	OMIM:251000
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Voca...	ORPHA:98897
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic...	ORPHA:1493
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Malonyl-Coa Decarboxylase Deficiency	Delayed CNS myelination, Hypoglycemia	OMIM:248360
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Cerebral atrophy	OMIM:614857
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Tremor, Abnormal retinal vascular morphology, Cherry red spot of th...	ORPHA:354
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ...	ORPHA:447753
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Hyperglycinemia, Hypertaurinemia	OMIM:245400
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Hyperintensity of MRI T2 signal of the spinal cord, Fascicula...	ORPHA:99965
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Dyst...	OMIM:616875
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Frontotemporal cerebral atrophy, Clu...	ORPHA:199351
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Weight loss, Dysphagia, Slender build, Allodynia	OMIM:603041
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Hypoglycemia, Transient hyperlipidemia	ORPHA:156
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Pigmentary retinopathy, Lower limb hype...	ORPHA:3208
Wolfram Syndrome 1	Tremor, Pigmentary retinopathy, Optic atrophy, Cerebral atrophy	OMIM:222300
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:26791
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Asparagine Synthetase Deficiency	Exaggerated startle response, Caudate atrophy, Clonus, Optic nerve hypoplasia, Tremor, Spastic te...	OMIM:615574
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front...	ORPHA:100070
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Niemann-Pick Disease, Type C1	Ataxia, Neurofibrillary tangles, Gait ataxia, Dystonia, Neuronal loss in central nervous system	OMIM:257220
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss of ambulation...	OMIM:607426
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Dystonia	OMIM:614105
Angelman Syndrome	Optic disc pallor, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Tongue thrusting, Optic at...	ORPHA:72
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Ataxia, Intention tremor	OMIM:117300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Dystonia, Bull's eye maculopathy, Optic atrophy, Craniofacial dystonia, Le...	ORPHA:157850
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Dysphagia	ORPHA:2198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusti...	ORPHA:98794
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoketotic hypoglycemia	OMIM:600649
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inabilit...	OMIM:208900
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Facial palsy, Neonatal hypoglycemia, Cystinuria	OMIM:606407
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Wolman Disease	Cachexia	ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Abnormality of retinal pigmentation, Anorexia	ORPHA:1969
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:261600
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Brain atrophy	OMIM:620114
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Hypouricemia, Hypophosphatemia, Aminoaciduria, Glycosuria	OMIM:616026
Bachmann-Bupp Syndrome	Lower limb spasticity, Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Nipah Virus Disease	Tremor, Myoclonus, Anorexia	ORPHA:99825
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesi...	OMIM:617186
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Increased c...	ORPHA:447788
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Per...	OMIM:618733
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response, Hypertonia	OMIM:272800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Carnitine Deficiency, Systemic Primary	Impaired gluconeogenesis, Recurrent hypoglycemia, Elevated circulating creatine kinase concentrat...	OMIM:212140
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Carnitine-Acylcarnitine Translocase Deficiency	Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypogl...	OMIM:212138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, Recurrent hy...	ORPHA:79644
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Unsteady gait, Ataxia, Hypoglycemia	ORPHA:457279
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Generalized hirsutism, Weight loss	ORPHA:317
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Spastic diplegia, Wei...	OMIM:619487
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hypoglycemia, Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinetic mo...	ORPHA:17
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ...	ORPHA:276621
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom...	ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Ataxia, Hypoglycemia, Optic neuropathy, Babinski sign, Tongue fasciculations, ...	OMIM:252010
Trisomy 18	Cachexia, Hypertonia, Abnormality of retinal pigmentation, Spina bifida	ORPHA:3380
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang...	OMIM:256700
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia, Hyperglycinuria	OMIM:201450
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Intention...	OMIM:254900
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Peripheral axonal neuropathy, Diabetes mellitus, Ataxia, Facial palsy, Elevated c...	ORPHA:254892
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Ataxia, Fasciculations, Cherry red spot of...	OMIM:268800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low anterior hairline, Blepharospas...	ORPHA:800
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Spasticity	OMIM:618329
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Hyp...	OMIM:255120
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Hypoglycemia	OMIM:608688
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Clonus, Cachexia, Remnants of the hyaloid ...	ORPHA:649
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Alternating Hemiplegia Of Childhood	Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Chorea, Ab...	ORPHA:2131
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials...	ORPHA:480898
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor funct...	ORPHA:79255
Attrv30M Amyloidosis	Vitreous floaters, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Ataxia, Spastic hemiparesis, Hyperammonemia, Recurrent hypoglycemia, Myo...	ORPHA:20
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemi...	OMIM:617093
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Infantile Liver Failure Syndrome 2	Hypoglycemia, Hyperammonemia	OMIM:616483
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Usher Syndrome	Abnormality of retinal pigmentation, Vestibular areflexia, Cerebral cortical atrophy	ORPHA:886
Cockayne Syndrome A	Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Gait disturbance, Peripheral dysm...	OMIM:216400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase	ORPHA:397744
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, We...	ORPHA:79139
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight lo...	ORPHA:221098
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Camurati-Engelmann Disease	Ataxia, Facial palsy, Anorexia, Cachexia, Optic atrophy, Optic nerve compression, Slender build	ORPHA:1328
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Generalized aminoaciduria, H...	ORPHA:2088
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici...	OMIM:619680
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Tip-toe gait, Hypocalcemia, Frequent falls, Hypoketotic hypoglycemia	ORPHA:746
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Fasting hypoglycemia, Decreased...	ORPHA:159
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal sensory impairment	ORPHA:477817
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Abnormal autonomic nervous...	ORPHA:2828
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Dystonia, Abnormality of visual evoked potent...	ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618839
Early-Onset Autosomal Dominant Alzheimer Disease	Neurofibrillary tangles, Ataxia, Cerebral cortical atrophy	ORPHA:1020
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F...	OMIM:610651
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Ataxia, Increased circulating guanosine concentration, Tremor, Spastic diplegia, Te...	OMIM:613179
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Ataxia, Retinal pigment epithelial mottling, Babinski sign, Dysmetr...	OMIM:607459
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response	ORPHA:3198
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Abnormal pyramid...	OMIM:614947
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu...	ORPHA:2126
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ...	ORPHA:2298
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hypoglycemia, Generalized aminoaciduria, Glycos...	OMIM:231680
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temper ta...	ORPHA:2072
Oculodentodigital Dysplasia	Ataxia, Hypoglycemia, Optic atrophy, Gait disturbance, Spastic paraparesis, Spasticity	ORPHA:2710
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Tremor, Optic atrophy, Peripheral dysmyelination, Patchy...	OMIM:133540
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Anorexia, Weight loss	ORPHA:79242
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Progressive spasticity	OMIM:301032
Cole Disease	Hyperglycemia	OMIM:615522
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fastin...	OMIM:227810
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Gait disturbance, Neonatal hypoglycemia	ORPHA:457485
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques	OMIM:606889
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive...	ORPHA:512
Joubert Syndrome With Renal Defect	Tremor, Oculomotor apraxia, Ataxia, Gait disturbance	ORPHA:220497
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Dyst...	ORPHA:309256
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Tremor, ...	ORPHA:29072
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo...	ORPHA:646
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Weight loss	ORPHA:391
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal optic nerve morphology, Cachexia	ORPHA:109
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia	ORPHA:37042
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Growth delay, Intrauterine growth retardation, Short stature, Abnormal myelination	OMIM:617333
Timothy Syndrome	Hypoglycemia, Hypocalcemia	OMIM:601005
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:615453
Joubert Syndrome	Tremor, Oculomotor apraxia, Ataxia, Gait disturbance	ORPHA:475
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Optic atrophy, Pigmentary retinopathy, Macrotia, Abn...	ORPHA:90321
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Rigidity, Hypoglycemia	OMIM:620275
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Hy...	OMIM:251880
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Decreased serum zinc, Ataxia	OMIM:201100
Takayasu Arteritis	Retinopathy, Anorexia, Weight loss	ORPHA:3287
Shashi-Pena Syndrome	Hypoglycemia, Limb hypertonia	OMIM:617190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Congenital Isolated Acth Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures	ORPHA:199296
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo...	OMIM:610505
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Vici Syndrome	Hypopigmentation of hair, Macular atrophy, Albinism, Ocular albinism, Macular hypoplasia, Dysphag...	OMIM:242840
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Oculomotor apraxia, Short stature, Abnormal myelination	ORPHA:67045
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Parkinsonism, Weight loss	OMIM:605543
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Elevated circulating creatine kinase concentration, Facial palsy, Clonus	OMIM:619424
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypertonia	ORPHA:79155
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Fine hair, Premat...	OMIM:612199
Wilson Disease	Dystonia, Poor motor coordination, Decreased circulating ceruloplasmin concentration, Hypouricemi...	OMIM:277900
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat...	OMIM:609015
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:201475
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrapl...	ORPHA:58
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia	OMIM:214110
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Hirschsprung Disease	Aganglionic megacolon, Failure to thrive in infancy, Weight loss	ORPHA:388
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h...	ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iie	Delayed myelination, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:608779
Serotonin Syndrome	Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Abnormality of the auto...	ORPHA:43116
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Marfan Syndrome	Retinal detachment, Cachexia, Dural ectasia, Attention deficit hyperactivity disorder, Slender build	ORPHA:558
Nijmegen Breakage Syndrome	Abnormal hair quantity, Cachexia, Abnormal hair morphology, Low anterior hairline, Attention defi...	ORPHA:647
Seckel Syndrome	Sparse scalp hair, Cachexia	ORPHA:808
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R...	ORPHA:79240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Optic atrophy, Retinal dysplasia	OMIM:253800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Incoordination, Elevated circulatin...	OMIM:223900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Tremor, Hyperammonemia, Hyperalaninemia, Intention tremor	OMIM:614052
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Clumsiness, Weight loss, Failure to t...	ORPHA:905
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Hypoglycemia, Chorea, Optic atrophy, Dystonia, Spasticity	ORPHA:2162
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia, Paraplegia	OMIM:617053
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Delayed CNS myelination, Elevated hemoglobin A1c, Tremor, Babinski sign, Glucose intolerance, Hyp...	OMIM:616539
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Tremor, Weight loss, Brain atrophy, Dysphagia	OMIM:164310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Facial palsy, Anorexia, Paralysis, Tremor, Abnormal glossopharyng...	ORPHA:297
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Hypertonia, Dysphagia, Spasticity, Thick eyebrow	OMIM:618367
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Dysphagia	ORPHA:142
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Hypoglycemia, Distal sensory impairment	OMIM:616007
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia	OMIM:607143
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Immunodeficiency 27A	Anorexia, Weight loss	OMIM:209950
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Reduced blood urea nitrogen, Decreased circulating reni...	OMIM:300539
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Decreased nerve conduction velocity, ...	OMIM:214500
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive	OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo	OMIM:240300
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity	OMIM:256800
Microsporidiosis	Cachexia, Anorexia, Weight loss	ORPHA:2552
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Spinal cord tumor, Anorexia, Weight loss	ORPHA:370348
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Weight loss	ORPHA:65682
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Anorexia, Weight loss, Failure to thrive, Cerebral cortica...	ORPHA:37
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus	ORPHA:199299
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Carcinoid tumor, Glucagonoma	OMIM:131100
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Kaposi Sarcoma	Abnormal retinal morphology, Weight loss	ORPHA:33276
Follicular Lymphoma	Weight loss	ORPHA:545
Familial Glucocorticoid Deficiency	Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Tetraplegia	ORPHA:361
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Tetraplegia, Hypoketotic hypoglycemia	OMIM:610768
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy	OMIM:203800
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus	OMIM:608612
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:614921
Giant Cell Arteritis	Alopecia, Ataxia, Anorexia, Optic atrophy, Weight loss	ORPHA:397
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Secondary Short Bowel Syndrome	Aganglionic megacolon, Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Sotos Syndrome	Glucose intolerance, Poor coordination, Neonatal hypoglycemia	OMIM:117550
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Leishmaniasis	Anorexia, Weight loss	ORPHA:507
Medullary Thyroid Carcinoma	Weight loss, Pheochromocytoma, Dysphagia	ORPHA:1332
Stickler Syndrome	Retinal detachment, Cachexia, Hemiplegia/hemiparesis, Abnormal vitreous humor morphology, Slender...	ORPHA:828
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Pigmentary retinopathy, Cerebral cortical atrophy	OMIM:277400
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath...	OMIM:614866
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Scorpion Envenomation	Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypo...	ORPHA:466677
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Glycogen Storage Disease Ia	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypertonia, Dystonia, Neonatal hypoglycemia	OMIM:617248
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Ataxia, Dystonia	OMIM:607625
Dpagt1-Cdg	Ataxia, Aggressive behavior, Tremor, Rod-cone dystrophy, Optic atrophy, Head-banging, Stereotypic...	ORPHA:86309
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Acute Adrenal Insufficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:95409
Pfapa Syndrome	Weight loss	ORPHA:42642
Menkes Disease	Chorea, Hypertonia, Hypoglycemia, Spasticity	ORPHA:565
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Hypoglycemia	ORPHA:95496
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Tremor, Choreoathetosis, Self-injuri...	ORPHA:1934
Acute Liver Failure	Pain insensitivity, Incoordination, Ataxia, Hypoglycemia, Slurred speech, Hyperammonemia	ORPHA:90062
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Decrease...	ORPHA:3337
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Neuroendocrine Tumor Of The Colon	Atypical pulmonary carcinoid tumor, Carcinoid tumor, Anorexia, Weight loss	ORPHA:100080
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Alg12-Cdg	Hyponatremia, Delayed myelination, Abnormal peripheral nervous system morphology, Recurrent hypog...	ORPHA:79324
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy	OMIM:214100
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Weight loss	ORPHA:47
Marburg Hemorrhagic Fever	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Dysesthesia, E...	ORPHA:99826
Deafness-Lymphedema-Leukemia Syndrome	Abnormal optic nerve morphology, Weight loss	ORPHA:3226
Focal Myositis	Weight loss	ORPHA:48918
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor...	OMIM:209900
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia, CNS hypomyelination	OMIM:614501
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbili...	OMIM:229600
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Hemiplegia/hemiparesis, Weight loss, Dysphagia	ORPHA:183
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia	ORPHA:90791
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy	ORPHA:505248
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia	OMIM:609069
Proteus Syndrome	Abnormality of retinal pigmentation, Cachexia, Retinal hamartoma, Retinal nonattachment, Choriore...	ORPHA:744
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Neuroendocrine Tumor Of The Rectum	Atypical pulmonary carcinoid tumor, Carcinoid tumor, Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Atypical pulmonary carcinoid tumor, Carcinoid tumor, Anorexia, Weight loss	ORPHA:100082
Carney-Stratakis Syndrome	Weight loss, Paraganglioma, Dysphagia	ORPHA:97286
Melas	Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo	ORPHA:550
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:85138
Eosinophilic Gastroenteritis	Weight loss, Dysphagia	ORPHA:2070
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Ménétrier Disease	Anorexia, Weight loss	ORPHA:2494
Shigellosis	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration	ORPHA:810
Thymic Neuroendocrine Tumor	Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm	ORPHA:97289
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Diabetes mellitus	ORPHA:465508
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hypoglycemia	ORPHA:90790
Dend Syndrome	Hyperglycemia	ORPHA:79134
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con...	ORPHA:580
African Trypanosomiasis	Papilledema, Alopecia, Abnormal central motor function, Involuntary movements, Aggressive behavio...	ORPHA:3385
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia, Difficulty walking, Gait ataxia	ORPHA:457359
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Aggressive Systemic Mastocytosis	Anorexia, Weight loss	ORPHA:98850
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia	ORPHA:90065
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm...	ORPHA:2556
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia	OMIM:619418
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive, Retinopathy	ORPHA:99885
Glycogen Storage Disease Ib	Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232220
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Cerebral atrophy, Tetraplegia, W...	OMIM:615846
Poems Syndrome	Papilledema, Weight loss, Leukonychia, Hypertrichosis	ORPHA:2905
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Osteosarcoma	Weight loss	ORPHA:668
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo	OMIM:251260
Histiocytoid Cardiomyopathy	Hemiplegia, Optic atrophy, Hypoglycemia	ORPHA:137675
Sheehan Syndrome	Hyponatremia, Hypoglycemia	ORPHA:91355
Bronchial Neuroendocrine Tumor	Weight loss, Anorexia, Pulmonary carcinoid tumor	ORPHA:97287
Chronic Beryllium Disease	Weight loss	ORPHA:133
Short Syndrome	Sparse hair, Alopecia, Weight loss	ORPHA:3163
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Hyperuricemia, Hyperch...	ORPHA:79259
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Carcinoid tumor, Anorexia, Neuroendocrine neoplasm	ORPHA:100085
Bohring-Opitz Syndrome	Delayed peripheral myelination	OMIM:605039
Polymyositis	Anorexia, Weight loss	ORPHA:732
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Celiac Disease, Susceptibility To, 1	Alopecia, Failure to thrive, Ataxia, Weight loss	OMIM:212750
Cap Polyposis	Weight loss	ORPHA:160148
Bullous Pemphigoid	Weight loss	ORPHA:703
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M...	ORPHA:636
Deeah Syndrome	Delayed CNS myelination, Neonatal hypoglycemia, Impaired pain sensation	OMIM:619004
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pigmen...	OMIM:219800
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Mucopolysaccharidosis Type 3	Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R...	ORPHA:581
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Mild postnatal growth retardation, Unsteady gait...	ORPHA:90324
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Hereditary Fructose Intolerance	Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia	ORPHA:469
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Anorexia, Ocular albinism, Weight loss, Long eyelashes, Abnormal optic ...	ORPHA:79430
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Attention deficit hyper...	ORPHA:144
Liposarcoma	Weight loss	ORPHA:69078
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance	OMIM:248370
Monosomy 18Q	Short stature, Poor coordination, Growth delay, Choreoathetosis, Abnormal myelination	ORPHA:1600
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid tumor	ORPHA:100075
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Dystonia, Involuntary movements, Myoclonus, Dysp...	ORPHA:438213
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Al Amyloidosis	Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Postural hypotension with c...	ORPHA:85443
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Attention deficit hyper...	ORPHA:440437
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i...	ORPHA:508
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
8P23.1 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials	ORPHA:401973
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Anorexia, Weight loss	ORPHA:100086
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypoglycemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal circulating thyroglobulin level, Hypoglycemia, Optic nerve hypoplasia	ORPHA:226307
Yao Syndrome	Weight loss	OMIM:617321
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia	OMIM:307030
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Loeffler Endocarditis	Weight loss	ORPHA:75566
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia	ORPHA:440713
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Adrenocortical Carcinoma	Weight loss, Increased body weight, Hypertrichosis	ORPHA:1501
Nephroblastoma	Weight loss	ORPHA:654
Glycogen Storage Disease Ic	Hyperlipidemia, Hypoglycemia, Hyperuricemia	OMIM:232240
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Pemphigus Vulgaris	Weight loss	ORPHA:704
Felty Syndrome	Weight loss	ORPHA:47612
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Rheumatoid Arthritis	Weight loss	OMIM:180300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Behçet Disease	Ataxia, Anorexia, Retrobulbar optic neuritis, Abnormal pyramidal sign, Weight loss, Hemiparesis, ...	ORPHA:117
Juvenile Dermatomyositis	Alopecia, Weight loss, Dysphagia	ORPHA:93672
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Refractory Celiac Disease	Weight loss	ORPHA:398063
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai...	ORPHA:79474
Malignant Atrophic Papulosis	Abnormal optic nerve morphology, Weight loss	ORPHA:679
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive, Dysphagia	ORPHA:1018
Pneumocystosis	Weight loss	ORPHA:723
Perlman Syndrome	Hypoglycemia	OMIM:267000
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin	ORPHA:699
Erdheim-Chester Disease	Polydipsia, Ataxia, Weight loss	ORPHA:35687
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Brucellosis	Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Chorea, Weight...	ORPHA:1304
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss, Abnormal hair quantity	ORPHA:91347
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Tethered cord, Attention deficit hyperactivity disorder, Dysphagia,...	OMIM:619522
Granulomatosis With Polyangiitis	Retinal hemorrhage, Weight loss	OMIM:608710
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Dysphagia	ORPHA:537
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Costello Syndrome	Vestibular schwannoma, Hypoglycemia	OMIM:218040
Beckwith-Wiedemann Syndrome	Elevated circulating alpha-fetoprotein concentration, Hypoglycemia, Neonatal hypoglycemia	ORPHA:116
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Multiple Endocrine Neoplasia Type 1	Anorexia, Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Pulmonary carcinoid ...	ORPHA:652
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Riddle Syndrome	Weight loss, Ataxia, Poor hand-eye coordination, Clumsiness	ORPHA:420741
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Caroli Disease	Anorexia, Weight loss	ORPHA:53035
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Thymoma	Weight loss	ORPHA:99867
Q Fever	Anorexia, Weight loss	ORPHA:781
Cystic Echinococcosis	Weight loss	ORPHA:400
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Weight loss	ORPHA:49041
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Sarcoidosis, Susceptibility To, 1	Chorioretinitis, Optic neuropathy, Anorexia, Weight loss	OMIM:181000
Ppoma	Intestinal carcinoid, Anorexia, Weight loss	ORPHA:97278
Mucolipidosis Type Ii	Weight loss, Dry hair, White hair, Fine hair	ORPHA:576
Stevens-Johnson Syndrome	Weight loss, Dysphagia	ORPHA:36426
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Grfoma	Intestinal carcinoid, Pheochromocytoma, Anorexia, Weight loss	ORPHA:97261
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Postinfectious Vasculitis	Retinal vasculitis, Abnormality of the peripheral nervous system, Anorexia, Weight loss	ORPHA:48435
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Vipoma	Ganglioneuroma, Anorexia, Weight loss	ORPHA:97282
Klatskin Tumor	Weight loss	ORPHA:99978
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Multiple Myeloma	Spinal cord compression, Weight loss	ORPHA:29073
Polycythemia Vera	Weight loss	ORPHA:729
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Anorexia, Pancreatic endocrine tumor, Increased body weight, Pulmonary carcino...	ORPHA:99889
Parathyroid Carcinoma	Polydipsia, Weight loss, Dysphagia	ORPHA:143
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Granulomatosis With Polyangiitis	Hemiplegia, Retinopathy, Weight loss	ORPHA:900
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Tremor, Optic atrophy, Pigmentary retinopathy, Action tremor	ORPHA:3455
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, Dysphagia	ORPHA:2020
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Anorexia, Weight loss	ORPHA:50918
Nocardiosis	Chorioretinitis, Anorexia, Weight loss	ORPHA:31204
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Fanconi Anemia	Aganglionic megacolon, Spina bifida, Weight loss	ORPHA:84
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Hypoglycemia, Optic nerve hypoplasia	ORPHA:95494
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia	ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Weight loss	ORPHA:79078
Somatostatinoma	Anorexia, Weight loss	ORPHA:97283
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Sotos Syndrome	Tremor, Poor coordination, Hypercalcemia, Neonatal hypoglycemia	ORPHA:821
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Familial Thrombocytosis	Weight loss	ORPHA:71493
Reactive Arthritis	Dystrophic fingernails, Weight loss	ORPHA:29207
Glucagonoma	Anorexia, Weight loss	ORPHA:97280
Castleman Disease	Weight loss	ORPHA:160
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Chronic Graft Versus Host Disease	Alopecia, Anorexia, Weight loss, Nail dystrophy, Dysphagia	ORPHA:99921
Degcags Syndrome	Intrauterine growth retardation, Vocal cord paralysis, Abnormal myelination	OMIM:619488
Immunodeficiency 31C	Weight loss	OMIM:614162
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alopecia, Severe failure...	ORPHA:740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia	ORPHA:293987
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Pyomyositis	Weight loss	ORPHA:764
Pancreatoblastoma	Weight loss	ORPHA:677
Rat-Bite Fever	Weight loss	ORPHA:31205
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Dermatomyositis	Abnormal hair quantity, Weight loss	ORPHA:221
Tropical Pancreatitis	Weight loss	ORPHA:103918
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia	OMIM:130650
Malt Lymphoma	Weight loss	ORPHA:52417
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Sarcoidosis	Alopecia, Facial palsy, Weight loss	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Weight loss	OMIM:619381
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Orofaciodigital Syndrome Type 14	Abnormal myelination	ORPHA:434179
Goodpasture Syndrome	Weight loss	OMIM:233450

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 Atp8a2

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 Atp8a2.

No publications found that use IMPC mice or data for Atp8a2.

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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
Atp8a2^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Atp8a2 MGI:1354710

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Atp8a2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data