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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

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Electrocardiogram (ECG)

Waveform Image

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Auditory Brain Stem Response

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

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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 (1720 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		Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Dysequilibrium Syndrome		Gait disturbance, Cerebral palsy, Ataxia	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	Axonal loss, Impaired temperature sensation, Progressive cerebellar ataxia	OMIM:212890
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil...	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	Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher...	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, Impaired proprioception, Ataxia	OMIM:176250
Spinocerebellar Ataxia, X-Linked 2	Abnormality of extrapyramidal motor function, Ataxia	OMIM:302600
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Spastic Paraplegia 72B, Autosomal Recessive	Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait	OMIM:620606
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Paresthesia, Positive Romberg sign, Gait ataxia, Distal sensory impai...	OMIM:601098
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception	ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri...	OMIM:614895
Optic Atrophy 2	Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor	OMIM:311050
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S...	OMIM:606483
Chronic Inflammatory Demyelinating Polyneuropathy	Falls, Spontaneous pain sensation, Somatic sensory dysfunction, Difficulty walking, Peripheral de...	ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Clusters of axonal regeneration, Distal sensory impairment, Decreased number of periphera...	OMIM:607734
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability...	ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor...	OMIM:607791
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i...	OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p...	OMIM:607677
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor...	OMIM:180800
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy	DECIPHER:59
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Cavitating leukodystrophy, Ataxia	OMIM:619061
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Distal sensor...	OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye...	OMIM:607731
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip...	OMIM:607080
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Segmental peripheral demyelination/remyelination, Hand paresthesia, Vocal cord para...	OMIM:162500
Megalencephaly With Dysmyelination	Spasticity, Cerebral dysmyelination, Ataxia	OMIM:249240
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia	ORPHA:98916
Spinocerebellar Ataxia Type 43	Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sensory impairment, Peripheral axonal neuropa...	ORPHA:497764
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn...	OMIM:614561
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome	Spasticity, Rigidity, Hypertonia, Ataxia	ORPHA:2672
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli...	OMIM:118210
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ...	OMIM:182815
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Distal sensor...	OMIM:214400
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Peripheral demyelinati...	ORPHA:101097
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Steppage gait, Impaired distal tactile sensation, Onion bulb format...	OMIM:610100
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl...	OMIM:614877
Ataxia With Fasciculations	Fasciculations, Ataxia	OMIM:108700
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Peripheral hypomyelination, Gait disturbance, Axonal loss, Frequent fa...	OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Charcot-Marie-Tooth Disease, Type 4H	Distal sensory impairment, Peripheral hypomyelination, Decreased number of peripheral myelinated ...	OMIM:609311
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Babinski sign, Delayed CNS myelination, Demyelinating peripheral neuropathy, ...	OMIM:619742
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis, Dysphagia	OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Hyperglycemia, Hyperlipidemia, Distal sensory impairment, Decreased ...	OMIM:604484
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Transient hyperphenylalaninemia, Postural tremor, Cog...	OMIM:128230
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Distal sensory impairment, Decreased number...	OMIM:118200
Spastic Ataxia 7, Autosomal Dominant	Babinski sign, Spastic ataxia, Optic atrophy, Dysdiadochokinesis	OMIM:108650
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ...	ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Axonal loss, Peripheral demyelination, Ataxia	OMIM:616684
Hypertrophic Neuropathy Of Dejerine-Sottas	Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My...	OMIM:145900
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Sandhoff Disease, Adult Form	Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Elevated circulating ...	ORPHA:309169
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia	OMIM:617018
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Gait disturbance, Segmental peripheral demyelination/re...	OMIM:311070
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia	OMIM:611105
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Chronic axonal neuropathy, Ataxia	OMIM:260970
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Monomelic Amyotrophy	Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul...	ORPHA:65684
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Peripheral demyelination, Gait ...	ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Impaired pain sensation, Axonal degeneration/regeneration, Decreased number o...	OMIM:607706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Distal sensory impairment, Decreased number of peripheral myelinated ...	OMIM:118220
Spastic Paraplegia 55, Autosomal Recessive	Spastic paraplegia, Optic atrophy, Difficulty walking, Distal sensory impairment, Babinski sign, ...	OMIM:615035
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Spasticity, Inability to walk, Chorea, Peripheral demyelination, Rigidity, Abnormality of extrapy...	OMIM:617672
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Peripheral demyelination, Positive Romberg sign,...	ORPHA:206594
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination, Gait disturbance, Distal sensory impairment	ORPHA:99944
Amyotrophic Lateral Sclerosis 1	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar paralysis, Degeneration o...	OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Axonal degeneration/regeneration, Distal sensory impairment, Tremor, D...	OMIM:609260
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia, Peripheral demyelination, Hypermethioninemia, CNS demyelination	OMIM:250850
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia	OMIM:264070
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Hippocampal atrophy, Caudate atrophy, Dy...	OMIM:617892
3-Methylglutaconic Aciduria Type 1	Dystonia, Spastic tetraparesis, Hypoglycemia, Progressive cerebellar ataxia	ORPHA:67046
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Difficulty walking, Axonal regeneration, Onion bulb formation, Distal sensory impairment	OMIM:608323
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur...	OMIM:602433
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells	OMIM:253550
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H...	ORPHA:2386
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Parkinsonism, Cachexia...	OMIM:618093
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Gait ataxia, Loss of ambulation, Babinski sign, CNS demyelination, Spas...	OMIM:249900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Mildly elevated creatine kinase, Tremor	OMIM:614369
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal...	OMIM:616437
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Distal sensory impairment, Elevated circulating creatine kina...	OMIM:615048
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli...	OMIM:605588
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory...	OMIM:302800
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Autosomal Spastic Paraplegia Type 30	Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ...	ORPHA:101010
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Impaired pain sensation, Difficulty walking, Peripheral demyelinati...	ORPHA:99953
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Phosphoserine Phosphatase Deficiency	Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Hypertonia	OMIM:614023
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Gait ataxia, Distal sensory impairment, Babinski sign, Impaired distal t...	ORPHA:101111
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal...	OMIM:614436
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor	ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Demyelinating sensory neuropathy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Peri...	OMIM:618387
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Distal sensory impairment, Decreased number of peripheral m...	OMIM:607250
Amyotrophic Lateral Sclerosis 18	Spasticity, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations	OMIM:614808
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Spinocerebellar Ataxia 41	Unsteady gait, Gait ataxia, Ataxia	OMIM:616410
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Spasticity, Amyotrophic lateral sclerosis, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia	OMIM:612069
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per...	OMIM:608340
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Distal sensory impairment, Peripheral hypomyelination, Paralysis, Decreased n...	OMIM:605285
Epilepsy, Progressive Myoclonic, 1B	Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropathy, Ataxia	OMIM:615957
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Somatic sensory dysf...	OMIM:615376
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Gait ataxia, Hyperammonemia, Distal sensory impairment, Tremor, ...	ORPHA:3124
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Dysphagia, Amyotrophic lateral sclerosis	OMIM:617839
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Polyphagia, Parkinsonism, N...	OMIM:600274
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Babinski sign, Dysmetria, Ataxia	OMIM:617584
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi...	OMIM:105500
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Spasticity of facial muscles, Opisthotonus, Clonus, At...	OMIM:205100
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low...	ORPHA:401820
Abetalipoproteinemia	Peripheral demyelination, CNS demyelination, Ataxia	OMIM:200100
Charcot-Marie-Tooth Disease, Type 4B2	Difficulty walking, Distal sensory impairment, Decreased number of peripheral myelinated nerve fi...	OMIM:604563
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Myoclonus, Tremor, Dysphagia, Facial palsy, Frequent falls, Degeneration o...	OMIM:159950
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Park...	OMIM:619565
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab...	OMIM:610245
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations	OMIM:613435
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fasciculations	OMIM:608030
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Choroideremia	Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm...	OMIM:303100
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Spinal Muscular Atrophy, Type Iii	Tongue fasciculations, Limb fasciculations, Hand tremor, Degeneration of anterior horn cells	OMIM:253400
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion...	OMIM:618184
Amyotrophic Lateral Sclerosis 5, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology...	OMIM:602099
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Hypoglycemia, Leucine-Induced	Spasticity, Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Congenital Glucokinase-Related Hyperinsulinism	Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal...	ORPHA:79299
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, Amyotrophic lateral sclerosis, Chorea, Spastic diplegia, Retrocollis, Axial dystoni...	ORPHA:300605
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Myoclonus, Abnormal circulating arginine concentration, Abnormal circulating threon...	ORPHA:79096
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morpho...	OMIM:105550
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus, Abnormal l...	OMIM:613954
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre...	OMIM:617087
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di...	ORPHA:363710
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Abnormality of macular pigmentation, Abnormal cranial nerve morphology...	ORPHA:97229
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial ne...	OMIM:601596
Spinocerebellar Ataxia 18	Sensory axonal neuropathy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadocho...	OMIM:607458
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis	OMIM:614373
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Phenylketonuria	Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia	ORPHA:716
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Amyotrophic Lateral Sclerosis 11	Upper motor neuron dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Hypoglycemia, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait dis...	OMIM:618241
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Facial palsy, Distal sensory impairment, Myelin outfoldings	OMIM:601382
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Peripheral axonal neur...	OMIM:607317
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Adult Krabbe Disease	Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Tetraparesis, Progres...	ORPHA:206448
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Abnormal pyramidal sign, Neuronal...	OMIM:608627
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Pyruvate Carboxylase Deficiency	Hypoglycemia, Leukodystrophy, Increased serum pyruvate, Clonus, Hyperalaninemia, Athetosis	OMIM:266150
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	OMIM:605253
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Amyotrophic Lateral Sclerosis 9	Spasticity, Amyotrophic lateral sclerosis	OMIM:611895
Autosomal Recessive Spastic Paraplegia Type 57	Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Babinski sign, Abnormal myelina...	ORPHA:431329
Neuromyelitis Optica Spectrum Disorder	Paraplegia, Peripheral demyelination, Somatic sensory dysfunction	ORPHA:71211
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Inability to walk, Decreased number of large peripheral myelinated ner...	ORPHA:98856
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	CNS hypomyelination, Ataxia	ORPHA:88637
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k...	ORPHA:276435
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o...	OMIM:614018
Charcot-Marie-Tooth Disease, Type 4D	Distal sensory impairment, Gait disturbance, Impaired distal tactile sensation, Impaired distal p...	OMIM:601455
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Optic atrophy, Gait ataxia, Intention tremor, Peripheral axonal neu...	OMIM:620221
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Violent behavior, Chorea, Limb dystonia, Retinopathy, Tremor, Rigidity...	ORPHA:216873
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Lower l...	OMIM:610357
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Impaired pain sensation, Distal sensory impairment, Steppage gait, Gait disturbance, Facial palsy...	OMIM:607684
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab...	ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 22	Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,...	OMIM:616948
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Neurodegeneration With Brain Iron Accumulation 7	Leukodystrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased c...	OMIM:617916
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
Migraine, Familial Hemiplegic, 1	Ataxia, Hemiplegia, Tremor, Hemiparesis	OMIM:141500
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Tongue fasciculations, Hand tremor, Fasciculations, Limb ataxia, Ataxi...	OMIM:607596
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio...	ORPHA:210128
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti...	OMIM:611637
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Fasciculations, Axonal degeneration/regeneration, Decreased number o...	OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Distal sensory impairment, Axonal degeneration, Gait disturbance, Steppage gait, Tongue atrophy	OMIM:616155
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Chorea, Peripheral demyelination, Peripheral hypomyelination, Axonal degenerati...	OMIM:604168
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D...	ORPHA:423275
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int...	ORPHA:314978
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn...	ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Generalized dystonia, Cerebellar vermis ...	OMIM:619389
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia...	OMIM:614487
Spinocerebellar Ataxia 46	Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Tremor, Ataxia	OMIM:619099
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Christianson Syndrome	Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Thick eyebrow, Gait ataxia...	ORPHA:85278
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Huntington Disease-Like 2	Cerebral cortical atrophy, Involuntary movements, Chorea, Caudate atrophy, Parkinsonism, Weight l...	ORPHA:98934
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Chorea, Paresthesia, Dysmetria, Peripheral hypomyelination, Abnormal pyramidal sign...	ORPHA:48431
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination	OMIM:616287
Spastic Ataxia 4, Autosomal Recessive	Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:613672
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
X-Linked Charcot-Marie-Tooth Disease Type 6	Hand tremor, Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory ...	ORPHA:352675
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal glucose homeostasis...	ORPHA:90117
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy...	OMIM:609033
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Unsteady gait, Gait ataxia, Delayed myelination	OMIM:618158
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal sign, Ataxi...	OMIM:615924
Spinocerebellar Ataxia 11	Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Machado-Joseph Disease Type 3	Degeneration of the striatum, Spasticity, Cerebellar atrophy, Spinocerebellar tract degeneration,...	ORPHA:276244
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat...	OMIM:615490
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para...	ORPHA:803
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN...	ORPHA:221091
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Falls, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, U...	OMIM:270550
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec...	ORPHA:99948
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Difficulty wa...	ORPHA:3115
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor	OMIM:302500
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c...	ORPHA:98763
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Delayed myelination, Spastic tetraplegia	ORPHA:599373
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Metachromatic Leukodystrophy	Optic atrophy, Chorea, Peripheral demyelination, Babinski sign, Gait disturbance, Tetraplegia, At...	OMIM:250100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ataxia, Dy...	OMIM:615911
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Dys...	ORPHA:363717
Aids Wasting Syndrome	Cachexia, Weight loss, Anorexia	ORPHA:90081
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation i...	ORPHA:320406
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy	OMIM:551500
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Tremor, Hereditary Essential, 6	Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spastic Paraplegia 76, Autosomal Recessive	Spastic paraplegia, Sensory axonal neuropathy, Difficulty walking, Gait ataxia, Dysmetria, Distal...	OMIM:616907
X-Linked Progressive Cerebellar Ataxia	Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Clumsiness, Axo...	ORPHA:1175
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Lower limb ...	OMIM:612736
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Tongue fasciculations, Cerebral cortical atrophy, Spasticity, Failure to thrive, P...	ORPHA:2254
Hsd10 Mitochondrial Disease	Optic atrophy, Spasticity, Hypoglycemia, Elevated circulating tiglylglycine concentration, Spasti...	OMIM:300438
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p...	ORPHA:352641
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidit...	ORPHA:401768
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Unsteady gait, Myoclonus, Hypertonia	OMIM:610090
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal sensory impairment, Elevated circulating creatine kinase concentration, Steppage gait, Axo...	OMIM:614455
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:616291
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Spasticity, Abnormal posturing, Generalized dystonia, Opisthotonus, Atten...	ORPHA:216866
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Cerebral cortical atrophy, Spasticity, Abnormal optic nerve morphology, Premature ...	ORPHA:33445
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem gait, Ap...	OMIM:300423
Dystonia 11, Myoclonic	Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors	OMIM:159900
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f...	OMIM:607831
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Cerebral cortical atrophy, Frontal upsweep of hair, Tremor, Aggressive...	OMIM:300983
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Peripheral demyelination, Myoclonus, Babinski sign, Apraxia, Gait disturbance, Axonal...	OMIM:221770
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Spinal Muscular Atrophy, Type Iv	Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells	OMIM:271150
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Spinocerebellar Ataxia Type 27	Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, T...	ORPHA:98764
Leukodystrophy, Hypomyelinating, 11	Spasticity, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ...	ORPHA:521406
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Delayed CNS myelination, Tremor, Ataxia	OMIM:616421
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hyperphenylalaninemia, Hypertonia, Ata...	OMIM:261640
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ...	ORPHA:88628
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Short stature, Intent...	OMIM:608029
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ankle clonus, ...	OMIM:604360
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation	OMIM:619651
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Spasticity, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Delayed CNS myeli...	OMIM:124000
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Tremor, Babinski sig...	OMIM:128100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Motor axonal neuropathy, Elevated circulating creatine kinase concentr...	OMIM:620542
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst...	ORPHA:98811
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy of the spinal cord, Atr...	ORPHA:445062
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Spinocerebellar Ataxia 25	Impaired pain sensation, Decreased number of peripheral myelinated nerve fibers, Babinski sign, O...	OMIM:608703
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Dihydrolipoamide Dehydrogenase Deficiency	Dystonia, Increased serum pyruvate, Hypoglycemia, Ataxia	OMIM:246900
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc...	OMIM:619405
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Spinocerebellar Ataxia 49	Sensory axonal neuropathy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambul...	OMIM:619806
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Hypoglycemia, Symmetrical progressive periphera...	OMIM:231670
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia	ORPHA:293964
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower...	OMIM:600363
Huntington Disease	Degeneration of the striatum, Oral-pharyngeal dysphagia, Polyphagia, Weight loss, Clonus, Bradyki...	ORPHA:399
Dysequilibrium Syndrome	Gait disturbance, Cerebral palsy, Ataxia	ORPHA:1766
Charcot-Marie-Tooth Disease, Type 4B3	Distal sensory impairment, Loss of ambulation, Gait disturbance, Onion bulb formation, Myelin out...	OMIM:615284
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di...	OMIM:617145
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Juvenile Primary Lateral Sclerosis	Spasticity, Abnormal upper motor neuron morphology, Abnormal pyramidal sign, Spastic gait, Spasti...	ORPHA:247604
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	OMIM:608133
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,...	ORPHA:284324
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Tremor, Dysmetri...	OMIM:164500
Primary Lateral Sclerosis, Juvenile	Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea...	OMIM:606353
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor	ORPHA:401835
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abn...	OMIM:251270
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi...	OMIM:608984
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon...	ORPHA:254343
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor	OMIM:619561
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Sensory axonal neuropathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Fasciculatio...	ORPHA:52430
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait	OMIM:213200
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ...	OMIM:614500
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Babinski sign, Ataxia, Symmetric peripheral d...	OMIM:169500
Tyrosinemia, Type Ii	Elevated urine N-acetyltyrosine level, Hypertyrosinemia	OMIM:276600
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Sensory axonal neuropathy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalanine...	ORPHA:254881
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Autosomal Dominant Spastic Paraplegia Type 8	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:100989
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat...	OMIM:617156
Mehmo Syndrome	Spasticity, Hypoglycemia, Difficulty walking, Inability to walk, Gait ataxia, Babinski sign, Spas...	OMIM:300148
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord...	ORPHA:157941
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, Spasticity, Hypoglycemia, Inability to walk, Hyperammonemia, Abnormality of extrap...	OMIM:614739
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Truncal ataxia, ...	ORPHA:453521
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction	ORPHA:101082
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination...	OMIM:618688
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Cerebral atrophy, Cherry red spot of the macula, Neurodegeneration, Abnor...	ORPHA:309246
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Rigi...	ORPHA:391417
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R...	ORPHA:329284
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance	OMIM:618090
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy	OMIM:619090
Behr Syndrome	Optic atrophy, Sensory axonal neuropathy, Dysmetria, Tremor, Babinski sign, Gait disturbance, Ata...	OMIM:210000
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Krabbe Disease	Optic atrophy, Peripheral demyelination, CNS demyelination, Hypertonia, Decerebrate rigidity, Pro...	OMIM:245200
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia	OMIM:619028
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Ataxia	ORPHA:1186
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Demyelinating periphera...	ORPHA:504476
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Limb dystonia, Tremor, Ataxia	OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis...	OMIM:620011
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal de...	OMIM:604320
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Optic atrophy, Difficulty walking, Impaired vibration sensation in...	ORPHA:137898
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Hypoglycemia, Tremor, Dysmetria, Delayed CNS myelination, Limb hypertonia, Hyperto...	OMIM:617710
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Sensory axonal neuropathy, Loss of ambulation, Babinski sig...	OMIM:271245
Juvenile Huntington Disease	Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigi...	ORPHA:248111
Mitochondrial Dna Depletion Syndrome 18	Tongue fasciculations, Clonus, Failure to thrive, Axonal degeneration	OMIM:618811
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Babinski sign, Abnor...	OMIM:610532
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor	OMIM:615386
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi...	OMIM:610185
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, Oculomotor...	OMIM:612438
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Hand tremor, Distal sensory impairment, Chronic axonal neuropathy, Impaire...	OMIM:162400
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s...	ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Autosomal Dominant Spastic Paraplegia Type 42	Progressive spastic paraplegia, Impaired vibration sensation in the lower limbs, Degeneration of ...	ORPHA:171863
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity,...	OMIM:613811
Tyrosinemia, Type Iii	Hypertyrosinemia	OMIM:276710
Tangier Disease	Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired temperature sensation,...	OMIM:205400
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p...	OMIM:617633
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc...	ORPHA:100988
Spinocerebellar Ataxia, Autosomal Recessive 18	Incoordination, Gait ataxia, Dysmetria, Babinski sign, Optic disc pallor, Oculomotor apraxia, Ata...	OMIM:616204
Pelizaeus-Merzbacher Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Failure to thrive in infancy, Cachexia, Ata...	ORPHA:702
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Spinal Muscular Atrophy, X-Linked 2	Tongue fasciculations, Facial palsy, Decreased compound muscle action potential amplitude, Degene...	OMIM:301830
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ...	OMIM:616127
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe...	ORPHA:2821
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera...	OMIM:616811
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Huntington Disease-Like 2	Cerebral cortical atrophy, Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia	OMIM:606438
Autosomal Recessive Spastic Paraplegia Type 35	Spastic paraplegia, Optic atrophy, Generalized dystonia, Difficulty walking, Peripheral demyelina...	ORPHA:171629
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon...	ORPHA:478029
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair...	OMIM:616719
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
X-Linked Creatine Transporter Deficiency	Chorea, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dyst...	ORPHA:52503
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Spasticity, Decreased circulating c...	ORPHA:2394
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Intention tremor	OMIM:266130
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia...	OMIM:615157
Tyrosinemia, Type I	Hypermethioninemia, Hypoglycemia, Hypophosphatemic rickets, Hypertyrosinemia, Periodic paralysis,...	OMIM:276700
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy	OMIM:619470
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Bruxis...	OMIM:617435
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Primary Lateral Sclerosis	Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology...	ORPHA:35689
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Mohr-Tranebjaerg Syndrome	Spasticity, Abnormal posturing, Tremor, Dystonia, Dysphagia	OMIM:304700
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Increased phytanic acid:pristanic a...	OMIM:614307
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga...	OMIM:616795
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign, Abnormal CNS mye...	ORPHA:477673
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Amyotrophy, Hereditary Neuralgic	Short stature, Peripheral axonal degeneration, Cleft palate, Axonal degeneration	OMIM:162100
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Postural tremor, Dysmetria, Tremo...	OMIM:607694
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki...	OMIM:614831
Spinocerebellar Ataxia 44	Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Hyperphenylalaninemia, Dystonia, Chore...	OMIM:233910
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair	ORPHA:2574
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Axonal degeneration	OMIM:618138
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Spastic paraplegia, CNS hypomyelination, Peripheral axonal neuropathy, Ataxia	OMIM:619688
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Optic atrophy, Ketotic hypoglycemia, Hypertonia...	ORPHA:26792
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Spastic paraplegia, Spasticity, Sensory axonal neuropathy, Impaired pain sensation, Progressive s...	ORPHA:139578
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal cir...	OMIM:612716
Charcot-Marie-Tooth Disease And Deafness	Tremor, Distal sensory impairment, Steppage gait, Gait disturbance, Axonal loss	OMIM:118300
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Impaired temperature sensation, Decreased number of small peripheral myelinat...	ORPHA:64752
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Difficulty walking, Delayed peripheral myelination, D...	ORPHA:464282
East Syndrome	Hypomagnesemia, Difficulty walking, Inability to walk, Action tremor, Peripheral hypomyelination,...	ORPHA:199343
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Autosomal Dominant Dopa-Responsive Dystonia	Generalized dystonia, Impaired vibration sensation in the lower limbs, Postural tremor, Gait atax...	ORPHA:98808
Hawkinsinuria	Hypertyrosinemia	OMIM:140350
Glutathionuria	Glutathionuria, Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Chorioretina...	OMIM:215470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Optic atrophy, Sensory axonal neuropathy, Somatic sensory dysfuncti...	ORPHA:99947
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Spasticity, Hyperammonemia, Hypoglycemia	ORPHA:6
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Classic Galactosemia	Hypoglycemia, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Clu...	ORPHA:79239
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Type II diabetes mellitus, Abnormal pyramidal sign, Demyelinating peripheral neurop...	ORPHA:453533
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoc...	ORPHA:79263
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Spinocerebellar Ataxia 4	Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia	OMIM:600223
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Peripheral demyelination	OMIM:616733
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Hyperinsulinemic hypog...	ORPHA:276608
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Leber Congenital Amaurosis 9	Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,...	OMIM:618877
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor...	ORPHA:275872
Rett Syndrome	Cerebral cortical atrophy, Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexi...	OMIM:312750
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp...	DECIPHER:29
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati...	OMIM:606159
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal upper motor neuron m...	OMIM:606070
Flynn-Aird Syndrome	Cerebral cortical atrophy, Alopecia, Cachexia, Rod-cone dystrophy, Ataxia	ORPHA:2047
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ataxia	OMIM:613662
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia	OMIM:232700
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials	ORPHA:141
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ...	ORPHA:209335
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis	OMIM:619132
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Senile plaques, Neurofibrillary tangles	DECIPHER:48
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Shuffling gait, Sensory axonal neuropathy, Paresthesia, Cogwheel rigidity, Action ...	ORPHA:254886
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Developmental And Epileptic Encephalopathy 68	Cerebral cortical atrophy, Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle ...	OMIM:618201
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Optic atrophy, Involuntary movements, Elevated circulating acylcarnitine concentration, Hypoglyce...	ORPHA:480864
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Spastic paraplegia, Sensory axonal neuropathy, Motor axonal neuropathy, Ankle clon...	OMIM:609541
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:614116
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore...	OMIM:620427
Myopathy With Extrapyramidal Signs	Optic atrophy, Extremely elevated creatine kinase, Difficulty walking, Chorea, Tremor, Abnormalit...	OMIM:615673
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Poor coordination, Action tremor, Ataxia	OMIM:617665
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Decreased motor nerve conduction velocity, Cerebellar atrophy, Facial diplegia, Babin...	OMIM:618186
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Somatic sensory dysfunction, Head tremor, Gait imbalance, Postural tremor, Eleva...	ORPHA:64753
Hsd10 Disease, Infantile Type	Optic atrophy, Poor coordination, Hypoglycemia, Hyperammonemia, Loss of ambulation, Hyperkinetic ...	ORPHA:391428
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
4H Leukodystrophy	Optic atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ...	ORPHA:289494
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, ...	OMIM:614867
Peroxisomal Acyl-Coa Oxidase Deficiency	Dystonia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Epilepsy, Familial Adult Myoclonic, 4	Enhancement of the C-reflex, Myoclonus, Tremor	OMIM:615127
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa...	OMIM:117360
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Abnormal CNS myelination, Difficulty walking, Hemiplegia, S...	ORPHA:206443
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Optic atrophy, CNS hypomyelination, Generalized dystonia, S...	OMIM:312080
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl...	ORPHA:324575
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Elevated circulating creatine kinase concentration, Generalized dyston...	OMIM:614298
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Optic atrophy, Hypoglycemia, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spa...	OMIM:620451
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Neurodegeneration, Tremo...	OMIM:300894
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Delayed CNS myelina...	OMIM:619725
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr...	ORPHA:93952
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Gait imbalance, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618120
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ...	ORPHA:52368
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Elevated circulating acylcarnitine concentration, Hypoglycemia, Gait ataxia, Hyper...	OMIM:616878
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Abnormal circulating bio...	ORPHA:1578
Progressive Non-Fluent Aphasia	Temporal cortical atrophy, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor f...	ORPHA:100070
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Sensory axonal neuropathy, Limb dysmetria, Positive Romberg sign, D...	ORPHA:94125
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d...	OMIM:620482
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Aicardi-Goutieres Syndrome 6	Leukodystrophy, Tremor, Rigidity, Loss of ambulation, Dystonia	OMIM:615010
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Peripheral demyelination, Myoclonus, Distal sensory impairment, ...	OMIM:609136
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern...	ORPHA:99886
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Inability to walk, Facial diplegia, Axonal degeneration/regeneration, Tremor, Peripheral axonal n...	OMIM:218000
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Spinocerebellar Ataxia 34	Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Peripheral axonal neuropa...	OMIM:133190
Insulinoma	Neuroendocrine neoplasm, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Pare...	ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Head tremor, Chorea, Gait ataxia, Limb atax...	OMIM:606002
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, CNS hypomyelination, Tip-toe gait, Hypoglycemia, Hyperglycemia, Hype...	ORPHA:3008
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Hyperamylasemia, Hyperglycinemia, Elevated circulating creatine kina...	OMIM:619386
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Peripheral axonal neuropathy, T...	ORPHA:98771
Cystathioninuria	Cystathioninuria, Cystathioninemia, Tremor	ORPHA:212
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Impaired vibration sen...	ORPHA:90103
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinski sig...	OMIM:616505
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Spasticity, Global brain atrophy, Cerebral atrophy, Failure to thrive in infancy, Cachexia, Hyper...	OMIM:616801
De Sanctis-Cacchione Syndrome	Severe short stature, Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Leukodys...	OMIM:278800
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Gait ataxia, Intention tremor, Dy...	OMIM:614381
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Optic atrophy, Tetraparesis, Fasciculations, Po...	OMIM:615491
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to...	ORPHA:206436
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Adrenomyeloneuropathy	Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Axonal degeneration, Babi...	ORPHA:139399
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Vocal cord paresis, Dysphagia, Amyotrophic lateral sclerosis	ORPHA:600
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Myoclonu...	ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Cerebral atrophy, Bruxism, Retinopathy, Tremor, Self-mutilation, Ataxia, Dystonia,...	OMIM:619422
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia	ORPHA:306669
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Spasticity, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Dystonia	OMIM:614702
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Caribbean Parkinsonism	Cerebral cortical atrophy, Bradykinesia, Autonomic bladder dysfunction, Myoclonus, Action tremor,...	ORPHA:97355
Mulibrey Nanism	Cachexia	ORPHA:2576
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo...	ORPHA:98772
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Resting tremor, Bradykinesia, Progressive extrapyramidal muscular rigidity, H...	ORPHA:225147
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Dystonia, Hypoglycemia, Methylmalonic acidemia	ORPHA:289504
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Ataxia, Fa...	OMIM:616881
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Abnormalit...	ORPHA:442835
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Ataxia, Neonatal hypoglycemia	OMIM:619046
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia	OMIM:616113
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t...	OMIM:612020
Alzheimer Disease 3	Cerebral cortical atrophy, Neurofibrillary tangles, Optic ataxia, Gait disturbance, Dystonia	OMIM:607822
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Tetraparesis, Antalgic gait, Tremor, Delayed CNS myelination	OMIM:620546
D-Glyceric Aciduria	Aminoaciduria, Spasticity, Hypoglycemia, Myoclonus, Appendicular spasticity, Opisthotonus, Delaye...	OMIM:220120
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus...	OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Coenzyme Q10 Deficiency, Primary, 4	Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia	OMIM:612016
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Increased total iron binding capacity, Tremor, Rigidity, Abnormality of extr...	OMIM:613280
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Weight loss, D...	ORPHA:298
Narp Syndrome	Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro...	ORPHA:644
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Senile plaques, Neurofibrillary tangles	OMIM:605055
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating selenium concentration, Fasting hypoglycemia	ORPHA:171706
Friedreich Ataxia	Optic atrophy, Spasticity, Falls, Sensory axonal neuropathy, Inability to walk, Chorea, Gait imba...	ORPHA:95
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Idiopathic Camptocormia	Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Parkinsonism, Dystonia	ORPHA:1320
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Multiple Sulfatase Deficiency	Spasticity, Peripheral demyelination, CNS demyelination, Ataxia	OMIM:272200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Developmental And Epileptic Encephalopathy 46	Failure to thrive, Cerebral atrophy, Tremor, Limb hypertonia, Dysphagia	OMIM:617162
Abcd Syndrome	Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Hearing impairment, Aganglio...	OMIM:600501
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor	ORPHA:79234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Alzheimer Disease 9, Susceptibility To	Cerebral cortical atrophy, Senile plaques, Neurofibrillary tangles, Hippocampal atrophy	OMIM:608907
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa...	OMIM:617519
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Infantile-Onset X-Linked Spinal Muscular Atrophy	Tongue fasciculations, Abnormal anterior horn cell morphology, Degeneration of anterior horn cells	ORPHA:1145
Autosomal Dominant Spastic Paraplegia Type 9B	Focal dystonia, Postural tremor, Upper motor neuron dysfunction, Loss of ambulation, Babinski sig...	ORPHA:447757
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Difficulty walking, Inability to walk, Facial diplegia, Dista...	ORPHA:254930
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Tremor, Delayed CNS myelination, Hypertonia, Ataxia	OMIM:619556
Mantle Cell Lymphoma	Weight loss, Anorexia	ORPHA:52416
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati...	ORPHA:99949
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Spasticity, Recurrent hypoglycemia, Gait ataxia, Truncal ataxia, Kinetic tremor, Delayed myelination	OMIM:616817
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive...	OMIM:137440
Hawkinsinuria	Abnormal circulating tyrosine concentration	ORPHA:2118
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop...	ORPHA:816
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A...	ORPHA:1215
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia	ORPHA:529665
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Sensory axonal neuropathy, Distal sensory impairment, Motor axonal neuropathy...	OMIM:256850
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Dystrophic fingernails, Patchy alopecia...	ORPHA:2930
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Spasticity, Hypoglycemia, Hyperammonemia, Loss of ambulation, Craniofacial dystonia	OMIM:618253
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Parkinsonism, Abnormal retinal vascu...	ORPHA:909
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Spasticity, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactivit...	OMIM:618718
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Cog8-Cdg	Chronic axonal neuropathy, Myoclonus, Hypoglycemia, Ataxia	ORPHA:95428
Leukoencephalopathy With Ataxia	Optic neuropathy, Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Decreased nerve conduction velocity, Cachexia, Ataxia	ORPHA:1933
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Spasticity, Chorea, Gait ataxia, Low plasma citrulline, Hyperalaninemia, Hypertoni...	ORPHA:255210
Spinocerebellar Ataxia 6	Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v...	OMIM:183086
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Involuntary movements, Decreased circula...	ORPHA:48818
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Elevated circulating alpha-fetoprotein concentration, Difficulty walking, Impaired...	ORPHA:95433
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra...	ORPHA:247234
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Motor axonal neuropa...	ORPHA:289560
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cerebral atrophy, Facial diplegia, Peripheral axonal neur...	OMIM:611890
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Ane Syndrome	Alopecia, Motor neuron atrophy	ORPHA:157954
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Increased urinary taurine, Peripheral demyelination, Opisthotonus, Elevated urinary...	OMIM:252150
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	OMIM:617304
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet...	OMIM:300623
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Ataxia, Decreas...	ORPHA:42
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination, Brain atrophy, Cerebral atrophy	ORPHA:85179
Hypertryptophanemia	Hypertryptophanemia, Tryptophanuria	OMIM:600627
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Positive Romberg sign, Hypertriglyceridemia, Dysmetria, ...	OMIM:277460
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	OMIM:613581
Ataxia-Oculomotor Apraxia 3	Distal sensory impairment, Dysmetria, Peripheral axonal neuropathy, Oculomotor apraxia, Ataxia, F...	OMIM:615217
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Tremor, Ataxia	OMIM:619473
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Increased urinary taurine, Peripheral demyelination, Opisthotonus, Myoclonic spasms...	OMIM:252160
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia	OMIM:222730
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Hypoglycemia, Tremor, Babinski sign, Limb hypertonia, Dystonia	ORPHA:35708
Spastic Paralysis, Infantile-Onset Ascending	Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Dysphagia...	OMIM:607225
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Global brain atrophy, Vestibular nystagmus, Central nervous system...	ORPHA:282166
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi...	ORPHA:897
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Elevated circulating palmitoleylcarnitine concentration, Hypoglycemia, Peripheral ...	ORPHA:79282
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Mcdonough Syndrome	Cachexia, Synophrys	ORPHA:2471
Laryngeal Neuroendocrine Tumor	Weight loss, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Anorexia	ORPHA:100083
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Idiopathic Achalasia	Weight loss, Dysphagia	ORPHA:930
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia	OMIM:619092
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov...	ORPHA:93958
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hyperton...	OMIM:618056
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins...	OMIM:300055
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypoglycemia	OMIM:617872
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Spastic tetraparesis, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal ...	OMIM:272750
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Hyperalaninemia, Dystonia, Increased serum pyruvate, Choreoat...	OMIM:312170
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Tremor, Cerebral hypomyelination, Delayed CNS myelination, Spastic tetraplegi...	OMIM:612164
Renpenning Syndrome	Thin eyebrow, Alopecia, Cachexia, Abnormal hairshaft morphology	ORPHA:3242
Pulmonary Blastoma	Weight loss	ORPHA:64741
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Spasticity, Failure to thrive, Chorea, Hypertonia, Exaggerated startle...	OMIM:617864
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Distal sensory impairment, Babinski sign, Lower l...	ORPHA:320375
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor, Aggressive behavior, Parkinsonis...	ORPHA:3077
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Myelopathy, Limb myoclonus, Difficulty walking, Inability to walk, Dysmetri...	ORPHA:139396
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory i...	ORPHA:99956
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Dysdiadochokinesis, Hypomagnesemia, Peripheral hypomyelination, Chronic axonal neuropathy, Hypoka...	OMIM:612780
Angioedema, Hereditary, 1	Hypoesthesia, Intestinal edema, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Resting tremor, Neurofibrillary tangles, Akinesia, Limb dystonia	OMIM:616840
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,...	OMIM:617675
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T...	ORPHA:420492
X-Linked Intellectual Disability, Cabezas Type	Obesity, Tremor, Aggressive behavior, Abnormal hair pattern, Cachexia, Hyperactivity, Synophrys	ORPHA:85293
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Hand tremor, Retinal flecks	ORPHA:100996
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ...	ORPHA:276580
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
3-Methylglutaconic Aciduria Type 4	Spasticity, Hypoglycemia	ORPHA:67048
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Tip-toe gait, Leg dystonia, Ankle clonus, Loss of ambulation, Babinski sig...	ORPHA:565624
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Hyperinsulinism Due To Ucp2 Deficiency	Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly...	ORPHA:276556
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hypoglycemia	ORPHA:664
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Elevated circulating glutaric acid concentration, Action tremor, Lower limb spasti...	ORPHA:66634
Syngap1-Related Developmental And Epileptic Encephalopathy	Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordination	ORPHA:544254
Retinitis Pigmentosa 14	Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation...	OMIM:600132
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Fasting hypoglycemia, Ataxia, D...	ORPHA:25
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Optic atrophy, Pigmentary retinopathy	OMIM:252011
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Cerebral palsy, Hyp...	OMIM:210210
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Hyperglycemia, Tremor, Hemiparesis, Hypertonia, Hypoesthesia, Optic...	OMIM:619737
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Ataxia-Telangiectasia	Spasticity, Type II diabetes mellitus, Tremor, Gait disturbance, Ataxia, Diabetes mellitus	ORPHA:100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:619260
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Propionic Acidemia	Hyperglycinuria, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Limb hypertonia, Dystonia	OMIM:606054
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Tay-Sachs Disease	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Decerebrate rigidity, Laryngeal dystonia...	ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Decreased plasma free carnitine, Hyperalaninemia, Hypoglycemia	OMIM:619048
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Facial diplegia, Tremor, Parkinsonism, Frequent falls, Mildly...	ORPHA:329478
Classic Phenylketonuria	Hemiplegia, Paraplegia, Tremor, Hyperphenylalaninemia, Hypertonia	ORPHA:79254
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Tremor, Gait disturbance, Hypertonia	ORPHA:1192
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Congenital Muscular Dystrophy With Intellectual Disability	Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy	ORPHA:370968
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Neurodegeneration, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign,...	OMIM:234200
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Severe failure to thrive, Cachexia, Spastic tetraplegia	ORPHA:371364
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276575
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Limb dystonia, Tremor, Dysmetria, Limb hypertonia, Ataxia, Neonatal hypoglyce...	ORPHA:572798
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Fasciculations	OMIM:313200
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Hypertrichosis	OMIM:271225
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Hypoglycemia	ORPHA:163693
Choroidal Atrophy-Alopecia Syndrome	Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation	ORPHA:1433
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Hypophosphatemic rickets, Tremor, Hyperin...	ORPHA:263455
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ...	ORPHA:765
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Lower limb spasti...	ORPHA:280210
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia	OMIM:614741
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
Tetrasomy 12P	Cachexia, Sparse eyebrow, Sparse hair	ORPHA:884
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Cachexia, Weight loss, Premature graying of hair	ORPHA:1979
Undifferentiated Pleomorphic Sarcoma	Weight loss, Anorexia	ORPHA:2023
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma...	ORPHA:70594
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Highly arched eyebrow, Bruxism, Tremor, Decreased body weight, Aggressive behavior, Attention def...	OMIM:618342
Leigh Syndrome	Optic atrophy, Spasticity, Involuntary movements, Sensory axonal neuropathy, Generalized aminoaci...	ORPHA:506
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	CNS hypomyelination, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Eleva...	OMIM:615356
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Resting tremor, Bradykinesia, Rigidity, Orthostatic hypotension due to...	ORPHA:411602
Leigh Syndrome, Nuclear	Dystonia, Optic atrophy, Pigmentary retinopathy	OMIM:256000
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Neurodegeneration With Brain Iron Accumulation 2B	Optic atrophy, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Dysdiadochokinesis,...	OMIM:610217
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Hypoglycemia, Hyperglycemia, Peripheral demyelination, Hyperammonemia, Tremor, Dysmet...	OMIM:220111
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Neuronal loss in central nervous sy...	OMIM:168600
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op...	OMIM:618527
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ...	OMIM:615925
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:613983
Perry Syndrome	Inappropriate behavior, Bradykinesia, Tremor, Rigidity, Disinhibition, Parkinsonism, Weight loss,...	OMIM:168605
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Spastic paraparesis, Hypoglycemia, Severe demyelination of the white matter, De...	ORPHA:391408
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m...	ORPHA:5
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Dystonia, Neonatal h...	OMIM:616271
Houge-Janssens Syndrome 1	Gait ataxia, Hypoglycemia	OMIM:616355
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Myoclonus, Diffuse cerebral atrophy, Hypertonia, Short stature, Abnormal myelination	ORPHA:289266
3-Methylglutaconic Aciduria Type 7	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram...	ORPHA:445038
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Leber Optic Atrophy	Optic atrophy, Postural tremor, Ataxia, Dystonia, Optic neuropathy	OMIM:535000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Leukodystrophy, Peripheral demyelination, Hyperbilirubinemia, Progr...	OMIM:619475
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test	OMIM:229100
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann...	OMIM:601162
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia, Hypoglycemia, Ataxia	OMIM:617575
Propionic Acidemia	Hyperammonemia, Hypoglycemia	ORPHA:35
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Pyridoxine-Dependent Epilepsy	Delayed CNS myelination, Hypoglycemia	ORPHA:3006
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Supranuclear Palsy, Progressive, 1	Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dys...	OMIM:601104
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase...	OMIM:231100
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Sparse or absent eyel...	ORPHA:217346
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Peripheral axonal neuro...	OMIM:263570
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Cerebellar atrophy, Fasciculations, Tremor, Limb hypertonia, Exaggerat...	OMIM:620327
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Congenital Bile Acid Synthesis Defect Type 4	Elevated circulating creatine kinase concentration, Type II diabetes mellitus, Tremor, Ataxia	ORPHA:79095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy	OMIM:268020
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Abnormal pyramidal sign, ...	ORPHA:99027
Non-Functioning Paraganglioma	Cranial nerve compression, Tremor, Hypertensive retinopathy, Weight loss, Vocal cord paralysis, P...	ORPHA:94080
Phenylketonuria	Maternal hyperphenylalaninemia, Elevated urinary gamma-glutamylphenylalanine level, Hyperphenylal...	OMIM:261600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Nail dystrophy, Anorexia	OMIM:175500
Isolated Complex I Deficiency	Hypoglycemia, Leukodystrophy, Ataxia, Optic disc pallor, Increased serum pyruvate, Optic neuropat...	ORPHA:2609
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Spasticity, Cherry red spot of the macula, Myoclonus, Exaggerated star...	ORPHA:309155
Beta-Ketothiolase Deficiency	Spasticity, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Ataxia, Extrapyramidal dy...	ORPHA:134
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Tremor, Ataxia	ORPHA:713
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Whipple Disease	Ataxia, Polydipsia, Myoclonus, Cachexia, Abnormal pyramidal sign, Anorexia	ORPHA:3452
Cockayne Syndrome	Spasticity, Dry hair, Action tremor, Peripheral axonal neuropathy, Cachexia, Ataxia, Optic disc p...	ORPHA:191
Diarrhea 13	Hypoalbuminemia, Recurrent hypoglycemia	OMIM:620357
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Hirsutism, Rigidity, Babinski sign, ...	OMIM:617527
Sialidosis Type 1	Aminoaciduria, Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech	ORPHA:812
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerve morphology by anatomica...	ORPHA:168563
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Hypoglycemia, Myoclonus, Elevated circulating creatine kinase con...	OMIM:619055
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Tongue thrusting, Limb...	OMIM:608643
Jaberi-Elahi Syndrome	Optic atrophy, Sparse eyebrow, Failure to thrive, Fine hair, Cerebellar vermis atrophy, Gait atax...	OMIM:617988
Oculopharyngodistal Myopathy 4	Postural tremor, Tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Hypoglycemia	OMIM:617950
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hypoglycemia, Elevated circulating cre...	OMIM:619355
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Spastic paraparesis, Increased total iron binding ...	ORPHA:309854
Galactokinase Deficiency	Hypoglycemia, Speech apraxia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactit...	ORPHA:79237
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss, Neuronal loss in central nervous system, Abnormal autonomic nervo...	OMIM:600072
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy	OMIM:613156
Glycogen Storage Disease Ixa1	Hyperuricemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia	OMIM:306000
Arthrogryposis, Distal, Type 5	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Isaacs Syndrome	Weight loss, Fasciculations	ORPHA:84142
Aredyld Syndrome	Aplasia/Hypoplasia of the eyebrow, Cachexia, Sparse body hair	ORPHA:1133
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Failure to thrive, Hirsutism, Rigidity, Progressive spastic quadriplegia, Abnormal...	ORPHA:521426
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal retinal ...	ORPHA:2715
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Neonatal hypoglycemia, Myoclonus, Cerebral palsy	OMIM:617600
Zika Virus Disease	Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne...	ORPHA:552
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Optic disc pa...	ORPHA:79264
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Painless fractures due to injury, Recurrent hypoglycemia, H...	OMIM:256810
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Spasticity, Facial-lingual fasciculations, Long eyelashes, Thick eyebrow, Myoclonu...	OMIM:617281
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Premature graying of hair	ORPHA:66633
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Craniofacial dystonia, Optic disc pallor, D...	OMIM:617282
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:2518
Choreoacanthocytosis	Resting tremor, Limb dystonia, Hair-pulling, Peripheral axonal neuropathy, Frontal cortical atrop...	ORPHA:2388
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	ORPHA:2481
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Mildly elevated creatine kinase, Dysmetria, Trem...	ORPHA:502423
Supranuclear Palsy, Progressive, 2	Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Aki...	OMIM:609454
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Hypoglycemia	OMIM:620137
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Opisthotonus, Hypoglycemia	OMIM:210200
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Xfe Progeroid Syndrome	Optic atrophy, Failure to thrive, Attenuation of retinal blood vessels, Cachexia, Poor coordination	OMIM:610965
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Head titubation	ORPHA:3240
Hyperlysinemia	Poor motor coordination, Hyperlysinuria, Hypoornithinemia, Tip-toe gait, Hyperammonemia, Dysmetri...	ORPHA:2203
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Long eyelashes, Clonus, Hypertonia, Exaggerated startle response, Dysphagia	OMIM:617301
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia	ORPHA:2158
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Myoclonus, Hyperglycinemia, Ankle clonus, Hypertonia, Exaggerated st...	OMIM:620423
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Sneddon Syndrome	Hemiplegia, Impaired distal tactile sensation, Facial palsy, Tremor	OMIM:182410
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Spasticity, Retinopathy, Cachexia, Ataxia	ORPHA:220295
Perlman Syndrome	High, narrow palate, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology	ORPHA:2849
Peho Syndrome	Peripheral dysmyelination, Optic atrophy, Myoclonus	OMIM:260565
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Hypoglycemia, Inability to walk by childhood/adolescence, Torticollis, Atheto...	OMIM:620224
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Oculopharyngodistal Myopathy	Vocal cord paresis, Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal sw...	ORPHA:98897
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Tremor...	ORPHA:370079
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Hypoglycemia	ORPHA:369
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Micro Syndrome	Optic atrophy, Cerebral cortical atrophy, Retinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:2510
Vici Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal macular morpholo...	ORPHA:1493
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Abnormal posturing, Cerebral atrophy	OMIM:614857
Tenorio Syndrome	Hypoglycemia, Cerebral palsy, Clumsiness, Gait disturbance, Hypoinsulinemia	OMIM:616260
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss, Dysphagia, Allodynia	OMIM:603041
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Hyperglycinemia, Hypoglycemia	OMIM:245400
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Transient hyperlipidemia, Hemiplegia/hemiparesis	ORPHA:156
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal...	ORPHA:447753
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Gm1 Gangliosidosis	Ataxia, Optic atrophy, Spasticity, Decerebrate rigidity, Generalized dystonia, Cherry red spot of...	ORPHA:354
Malonyl-Coa Decarboxylase Deficiency	Delayed CNS myelination, Hypoglycemia	OMIM:248360
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Bradyk...	ORPHA:199351
Glycogen Storage Disease Ixb	Hyperuricemia, Hypoglycemia	OMIM:261750
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	Pigmentary retinopathy, Spastic paraparesis, Spasticity, Babinski sign, Weight loss, Ataxia, Spas...	ORPHA:3208
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Cerebellar atrophy, Exocrine pancreatic insufficiency, Postnatal growth retarda...	OMIM:616263
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:600649
Asparagine Synthetase Deficiency	Global brain atrophy, Failure to thrive, Tremor, Caudate atrophy, Clonus, Limb hypertonia, Hypert...	OMIM:615574
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Anorexia	ORPHA:86893
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Hyperglycinemia, Hyperammonemia, Delayed CNS myelination, Methylmalonic acidemia	OMIM:251000
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Gait ataxia, Neuronal loss in central nervous system, Ataxia, Dystonia	OMIM:257220
Wolfram Syndrome 1	Cerebral atrophy, Optic atrophy, Pigmentary retinopathy, Tremor	OMIM:222300
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor...	ORPHA:71212
Coenzyme Q10 Deficiency, Primary, 1	Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of ambulation, Right ...	OMIM:607426
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Limb dystonia, Leg dystonia, Retin...	ORPHA:157850
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Intention tremor, Neurofibrillary tangles, Ataxia	OMIM:117300
Angelman Syndrome	Self-injurious behavior, Optic atrophy, Cerebral cortical atrophy, Fair hair, Inappropriate laugh...	ORPHA:72
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Recurrent hypoglycemia, Hyperammonemia, Elevated c...	OMIM:212140
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Bradykinesia, Tremor, Rigidity, Neuronal loss in centra...	ORPHA:683
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Dysphagia	ORPHA:2198
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Wolman Disease	Cachexia	ORPHA:75233
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Recurrent hypoglycemia, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Ne...	ORPHA:79644
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Dystonia, Retinal pigment epithelial mottling	OMIM:614105
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Nipah Virus Disease	Myoclonus, Tremor, Anorexia	ORPHA:99825
Central Diabetes Insipidus	Weight loss, Polydipsia, Failure to thrive, Anorexia	ORPHA:178029
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased...	OMIM:608836
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Brain atrophy, Exaggerated startle response	OMIM:620114
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Dysmetria, Hyperechogenic p...	ORPHA:456312
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Inappropriate laughter, Abnormal eating behavior, Myoclonus, Recurrent hand flapping, Tremor, Obe...	ORPHA:98794
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Hypotonia-Cystinuria Syndrome	Cystinuria, Facial palsy, Neonatal hypoglycemia, Hypocalcemia	OMIM:606407
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Lower limb spasticity, Hypoglycemia	OMIM:619075
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Superficial Siderosis	Cerebellar atrophy, Impaired pain sensation, Abnormality of the vestibulocochlear nerve, Impaired...	ORPHA:247245
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Abnormality of retinal pigmentation, Anorexia	ORPHA:1969
Night Blindness, Congenital Stationary, Type 1B	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Ataxia-Telangiectasia	Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Inability to walk, Gluc...	OMIM:208900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia	OMIM:201450
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Global brain atrophy, Myelopathy, Tetraparesis, Tremor, Rigidity, Torticolli...	OMIM:617186
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Per...	OMIM:618733
Glucocorticoid Deficiency 2	Spastic tetraparesis, Myoclonus, Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Tay-Sachs Disease	Hypertonia, Exaggerated startle response, Cherry red spot of the macula	OMIM:272800
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:212138
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Hyperekplexia 3	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Cerebral Visual Impairment	Optic atrophy, Cerebral palsy, Clumsiness, Oculomotor apraxia, Optic disc pallor, Increased cup-t...	ORPHA:447788
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Weight loss, Generalized hirsutism	ORPHA:317
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Leukodystrophy, Hypoglycemia, Babinski sign, Hyperalaninemia, ...	OMIM:252010
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Unsteady gait, Hypoglycemia, Ataxia	ORPHA:457279
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait, Intention...	OMIM:254900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypoglycemia, Myoclonus, Hyperkinetic movements, Dystonia, Hypertonia, Unsteady gait, Choreoathet...	ORPHA:17
Aicardi-Goutieres Syndrome 9	Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Spastic tetraparesis, Spastic dip...	OMIM:619487
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Myoclonus, Ganglioneuroma, Weight loss, Spinal cord compression, Horner syndro...	OMIM:256700
Hereditary Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:30925
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cranial nerve compression, Tremor, Hypertensive retinopathy, Adrenal pheochromocytoma, Paragangli...	ORPHA:276621
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Trisomy 18	Cachexia, Hypertonia, Abnormality of retinal pigmentation, Spina bifida	ORPHA:3380
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Tetanus	Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Abnormal autonomic nervous system ...	ORPHA:3299
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction	ORPHA:585
Refsum Disease	Abnormality of retinal pigmentation, Retinopathy	ORPHA:773
Matthew-Wood Syndrome	Annular pancreas, Duodenal stenosis, Intrauterine growth retardation, Cryptorchidism, Abnormal sp...	ORPHA:2470
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Glucose intolerance, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Abnormalit...	ORPHA:254892
Hyperekplexia 1	Frequent falls, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:149400
Developmental And Epileptic Encephalopathy 8	Hypertonia, Exaggerated startle response	OMIM:300607
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Hypoglycemia	OMIM:608688
Alternating Hemiplegia Of Childhood	Failure to thrive, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Thin eyebrow, Ch...	ORPHA:2131
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:228305
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hyperammonemia, Hypoglycemia, Elevated circulating...	OMIM:620300
Infantile Liver Failure Syndrome 2	Hyperammonemia, Hypoglycemia	OMIM:616483
Sandhoff Disease	Spasticity, Cherry red spot of the macula, Fasciculations, Orthostatic hypotension, Ataxia, Upper...	OMIM:268800
Schwartz-Jampel Syndrome	Blepharospasm, Abnormal eyebrow morphology, Long eyelashes in irregular rows, Low anterior hairli...	ORPHA:800
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Recurrent hypoglycemia, Myoclonus, Spastic hemiparesis, Hyperuricemia, Hyperammonemia...	ORPHA:20
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia	ORPHA:73272
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation	ORPHA:424
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Spasticity, Hypoglycemia, Hyperalaninemia	OMIM:618329
Norrie Disease	Self-injurious behavior, Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Abnormal vi...	ORPHA:649
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnorm...	OMIM:146500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Spasticity, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyper...	OMIM:617093
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tre...	ORPHA:314404
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Long-Olsen-Distelmaier Syndrome	Hyperammonemia, Hypoglycemia, Optic nerve hypoplasia	OMIM:620609
Usher Syndrome	Cerebral cortical atrophy, Vestibular areflexia, Abnormality of retinal pigmentation	ORPHA:886
Cockayne Syndrome A	Optic atrophy, Peripheral dysmyelination, Tremor, Gait disturbance, Ataxia, Abnormal peripheral m...	OMIM:216400
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Blue Diaper Syndrome	Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia	ORPHA:94086
Methylmalonic Aciduria, Cblb Type	Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglycinemia, Hyperammone...	OMIM:251110
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia	OMIM:613027
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Dysdiadochokinesis, Myoclonus, Dysmetria, Babinski sign, Weight loss, Clonus,...	OMIM:301310
Attrv30M Amyloidosis	Weight loss, Abnormal autonomic nervous system physiology, Vitreous floaters	ORPHA:85447
Japanese Encephalitis	Decreased motor nerve conduction velocity, Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tre...	ORPHA:79139
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Kanzaki Disease	Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration	OMIM:609242
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:159
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve...	ORPHA:221098
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Decreased circulating carnitine concentration, Hypoglycemia, Myoclonus, Hyperammonemi...	OMIM:246450
Camurati-Engelmann Disease	Optic atrophy, Anorexia, Slender build, Optic nerve compression, Cachexia, Ataxia, Facial palsy	ORPHA:1328
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Speech apraxia, Obesity, Recurrent hand flapping, Tremor, Aggressive behavior, Atte...	OMIM:619680
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Generalized aminoaciduria, Glycosuria, Hypophosphatemia, Fasting hypo...	ORPHA:2088
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Young-Onset Parkinson Disease	Spasticity, Bradykinesia, Restless legs, Tremor, Rigidity, Impulsivity, Abnormal autonomic nervou...	ORPHA:2828
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve conduction velocity, F...	OMIM:610651
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mildly elevated creatine kinase, Tremor	ORPHA:397744
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia	ORPHA:65288
Early-Onset Autosomal Dominant Alzheimer Disease	Cerebral cortical atrophy, Neurofibrillary tangles, Ataxia	ORPHA:1020
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response	ORPHA:3198
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,...	ORPHA:2298
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Sensory axonal neuropathy, Retinal pigment epithe...	OMIM:607459
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
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Hypoketotic hypoglycemia, Hypocalcemia, Babinski sign, Frequent falls	ORPHA:746
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ...	OMIM:216550
Cockayne Syndrome B	Optic atrophy, Peripheral dysmyelination, Tremor, Ataxia, Abnormal peripheral myelination, Patchy...	OMIM:133540
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypertonia	ORPHA:79155
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Optic disc pallor, Unstea...	OMIM:614947
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Hyperalaninemia, CNS demyelination	OMIM:620646
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hyperbilirubinem...	OMIM:227810
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Feingold Syndrome	Annular pancreas, Abnormality of the spleen, Esophageal atresia, Short stature, Duodenal atresia	ORPHA:1305
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Nonketotic hypoglycemia, Hyperammonemia, Elevated ...	OMIM:201475
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Abnormal temper tantrums, Limb ataxia, Paralysis, Cachexia, Oculomotor apraxi...	ORPHA:2072
Classic Hodgkin Lymphoma	Anorexia, Weight loss, Ataxia	ORPHA:391
Holocarboxylase Synthetase Deficiency	Anorexia, Alopecia, Weight loss, Ataxia	ORPHA:79242
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Elevated circulating glutaric acid concentration, Glycosuria, Hypoglyc...	OMIM:231680
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P...	ORPHA:512
Gm1 Gangliosidosis Type 1	Spasticity, Cherry red spot of the macula, Hirsutism, Diffuse cerebral atrophy, Exaggerated start...	ORPHA:79255
Oculodentodigital Dysplasia	Optic atrophy, Spasticity, Spastic paraparesis, Hypoglycemia, Gait disturbance, Ataxia	ORPHA:2710
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsu...	ORPHA:2126
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hyperammonemia, Hypoglycemia	OMIM:615453
Alzheimer Disease 4	Senile plaques, Neurofibrillary tangles	OMIM:606889
Familial Gestational Hyperthyroidism	Agitation, Weight loss, Hyperactivity, Hand tremor	ORPHA:99819
Basilicata-Akhtar Syndrome	Progressive spasticity, Neonatal hypoglycemia	OMIM:301032
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Gait disturbance, Neonatal hypoglycemia	ORPHA:457485
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Alopecia, Cachexia, Nail dystrophy	ORPHA:37042
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Cranial nerve compression, Tremor, Hypertensive retinopathy, Adrena...	ORPHA:29072
Graves Disease	Polyphagia, Weight loss, Hyperactivity	OMIM:275000
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Tetraparesis, Tremor, Ataxia, Increased circulating inosine concentration, Increase...	OMIM:613179
Unilateral Polymicrogyria	Involuntary movements, Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar pa...	ORPHA:268943
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Joubert Syndrome With Renal Defect	Oculomotor apraxia, Gait disturbance, Tremor, Ataxia	ORPHA:220497
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hypona...	OMIM:610505
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Hearing impairment, Abnormality of peripheral nerve conduc...	ORPHA:90321
Niemann-Pick Disease Type C	Abnormal CNS myelination, Cataplexy, Leukodystrophy, Speech apraxia, Chorea, Myoclonus, Limb dyst...	ORPHA:646
Timothy Syndrome	Hypocalcemia, Hypoglycemia	OMIM:601005
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Abnormal optic nerve morphology	ORPHA:109
Non-Acquired Isolated Growth Hormone Deficiency	Neonatal hypoglycemia	ORPHA:631
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Pancreatic Agenesis 2	Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc, Tremor, Ataxia	OMIM:201100
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529799
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair	ORPHA:2221
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Clonus, Tremor, Elevated circulating creatine kinase concentration	OMIM:619424
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Intrauterine growth retardation, Abnormal myelination, Growth delay	OMIM:617333
Joubert Syndrome	Oculomotor apraxia, Gait disturbance, Tremor, Ataxia	ORPHA:475
Carnitine Palmitoyltransferase I Deficiency	Transient hyperlipidemia, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine...	OMIM:255120
Shashi-Pena Syndrome	Limb hypertonia, Hypoglycemia	OMIM:617190
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia, Rigidity	OMIM:620275
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A...	ORPHA:79330
Takayasu Arteritis	Weight loss, Retinopathy, Anorexia	ORPHA:3287
Vici Syndrome	Hypopigmentation of the fundus, Abnormal posturing, Ocular albinism, Failure to thrive, Macular h...	OMIM:242840
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Hyperammonemia, Eleva...	OMIM:609015
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Short stature, Oculomotor apraxia, Abnormal myelination	ORPHA:67045
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Decreased number of large peripher...	OMIM:223900
Alexander Disease	Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Gait disturbance, Ataxi...	ORPHA:58
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:214110
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Elevated circulatin...	OMIM:251880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Fasting h...	ORPHA:264580
Hirschsprung Disease	Failure to thrive in infancy, Aganglionic megacolon, Weight loss	ORPHA:388
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia	ORPHA:199296
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Exaggerated startle response	OMIM:608800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hyperammonemia, Tremor, Hyperalaninemia, Ataxia, Intention tremor	OMIM:614052
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Serotonin Syndrome	Abnormality of the autonomic nervous system, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Res...	ORPHA:43116
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia	OMIM:605911
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Spasticity, Fine hair, Premature graying of hair, Hemiplegia, Nail dystrophy, Trem...	OMIM:612199
Congenital Disorder Of Glycosylation, Type Iie	Delayed myelination, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:608779
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,...	ORPHA:79240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Pigmentary retinopathy	OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response	OMIM:253800
Rhabdoid Tumor	Hemiplegia, Weight loss, Cerebral palsy	ORPHA:69077
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Nijmegen Breakage Syndrome	Abnormal hair morphology, Low anterior hairline, Attention deficit hyperactivity disorder, Cachex...	ORPHA:647
Seckel Syndrome	Cachexia, Sparse scalp hair	ORPHA:808
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Bohring-Opitz Syndrome	Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Intrauterine growth retard...	OMIM:605039
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Oculopharyngodistal Myopathy 1	Tremor, Weight loss, Ataxia, Facial palsy, Dysphagia, Brain atrophy	OMIM:164310
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Vocal cord paralysis, Pancreatic ...	ORPHA:64744
Wilson Disease	Failure to thrive, Increased body weight, Clumsiness, Aggressive behavior, Weight loss, Hypersexu...	ORPHA:905
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Mirage Syndrome	Hyponatremia, Paraplegia, Hyperkalemia, Hypoglycemia	OMIM:617053
Werner Syndrome	White forelock, Abnormality of retinal pigmentation, Premature graying of hair	ORPHA:902
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy	ORPHA:192
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Glycosuria, Glucose intolerance, Tremor, Babinski sign, Delayed CNS myelination, Hype...	OMIM:616539
Holoprosencephaly	Optic atrophy, Spasticity, Hypoglycemia, Chorea, Hyponatremia, Dystonia, Diabetes mellitus	ORPHA:2162
Anaplastic Thyroid Carcinoma	Weight loss, Dysphagia, Vocal cord paralysis	ORPHA:142
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neurofibrillary tangles, Neuronal loss in central nervous system	OMIM:607485
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Spasticity, Annular pancreas, Inability to walk, Ankyloglossia, Intrauterine growth retardation, ...	ORPHA:488642
Cohen Syndrome	Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ...	ORPHA:193
Immunodeficiency 27A	Weight loss, Anorexia	OMIM:209950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Cerebellar atrophy, Thick eyebrow, Hypertonia, Exaggerated startle response, Dysphagia	OMIM:618367
Polyarteritis Nodosa	Weight loss, Polyneuritis, Sensory axonal neuropathy	ORPHA:767
Tick-Borne Encephalitis	Tongue fasciculations, Myelitis, Incoordination, Speech apraxia, Abnormal cranial nerve morpholog...	ORPHA:297
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:157
Marfan Syndrome	Dural ectasia, Slender build, Cachexia, Attention deficit hyperactivity disorder, Retinal detachment	ORPHA:558
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hypocalcemia, Hyperammonem...	ORPHA:26793
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Hypoglycemia, Distal sensory impairment	OMIM:616007
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Dystonia, Exaggerated startle response	ORPHA:438216
Cole Disease	Hyperglycemia	OMIM:615522
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Hypoglycemia	OMIM:607143
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Anorexia	ORPHA:65682
Lysosomal Acid Lipase Deficiency	Cachexia, Weight loss, Failure to thrive	ORPHA:275761
Triosephosphate Isomerase Deficiency	Spasticity, Failure to thrive, Cerebral atrophy, Tremor, Optic disc pallor, Dystonia	OMIM:615512
Wilson Disease	Aminoaciduria, Poor motor coordination, Hypouricemia, Hypoalbuminemia, Mixed demyelinating and ax...	OMIM:277900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Pigmentary retinopathy, Vitiligo, Perifoveal ring of hyperautofluorescence	OMIM:240300
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers	OMIM:256800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Cerebellar atrophy, Spotty hyperpigmentation...	ORPHA:167
Chediak-Higashi Syndrome	Silver-gray hair, Ocular albinism, Neurodegeneration, Decreased nerve conduction velocity, Tremor...	OMIM:214500
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Alopecia, Failure to thrive, Abnormal eyebrow morphology, Weight loss,...	ORPHA:37
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Microsporidiosis	Cachexia, Weight loss, Anorexia	ORPHA:2552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Tetraplegia, Increased circulating free fatty acid level	OMIM:610768
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Short Syndrome	Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:269880
Atelosteogenesis Type I	Rhizomelia, Neonatal short-trunk short stature, Malrotation of colon, Cleft palate, Abnormal panc...	ORPHA:1190
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Insulinoma, Glucagonoma, Pancreatic islet cell adenoma, Carcinoid tumor, Hypercalcemia	OMIM:131100
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Stickler Syndrome	Slender build, Hemiplegia/hemiparesis, Abnormal vitreous humor morphology, Cachexia, Retinal deta...	ORPHA:828
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, T...	ORPHA:79102
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Follicular Lymphoma	Weight loss	ORPHA:545
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor	OMIM:274150
Familial Glucocorticoid Deficiency	Hyponatremia, Ketotic hypoglycemia, Tetraplegia, Hypoglycemic seizures, Hyperkalemia	ORPHA:361
Kaposi Sarcoma	Weight loss, Abnormal retinal morphology	ORPHA:33276
Peripheral Primitive Neuroectodermal Tumor	Weight loss, Spinal cord tumor, Torticollis, Anorexia	ORPHA:370348
Shwachman-Diamond Syndrome 2	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Steatorrhea, High palat...	OMIM:617941
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia	OMIM:231530
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hypercalcemia	ORPHA:199299
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fasting hypoglycemia	OMIM:232200
Scorpion Envenomation	Glycosuria, Hemifacial spasm, Hyperglycemia, Paresthesia, Myoclonus, Tremor, Hyperkinetic movemen...	ORPHA:466677
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Giant Cell Arteritis	Ataxia, Optic atrophy, Alopecia, Weight loss, Anorexia	ORPHA:397
Leishmaniasis	Weight loss, Anorexia	ORPHA:507
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,...	ORPHA:2526
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Secondary Short Bowel Syndrome	Aganglionic megacolon, Polyphagia, Weight loss, Failure to thrive	ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia	OMIM:611126
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Neonatal hypoglycemia, Increased b...	OMIM:223360
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Athetosis, Cerebellar vermis atrophy, ...	OMIM:614866
Dpagt1-Cdg	Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Head-banging, Failure to thrive, ...	ORPHA:86309
Cholera	Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Immunodeficiency 10	Hypoglycemia	OMIM:612783
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:614921
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss, Dysphagia	ORPHA:1332
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia, Hypoglycemia	OMIM:620454
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Acquired Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:95626
Sotos Syndrome	Poor coordination, Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:394
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Action tremor, Cone/...	ORPHA:404454
Niemann-Pick Disease, Type C2	Dystonia, Neurofibrillary tangles, Ataxia	OMIM:607625
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H...	ORPHA:94093
Neuroendocrine Tumor Of The Colon	Anorexia, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100080
Glycogen Storage Disease Ib	Inflammation of the large intestine, Splenomegaly, Hepatomegaly, Delayed puberty, Pancreatitis, P...	OMIM:232220
3-Methylglutaconic Aciduria, Type Viii	Tremor, Clonus, Hypertonia, Dystonia, Neonatal hypoglycemia	OMIM:617248
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive	ORPHA:1842
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, Myoc...	ORPHA:1934
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o...	OMIM:200995
Pfapa Syndrome	Weight loss	ORPHA:42642
Acute Liver Failure	Pain insensitivity, Hypoglycemia, Incoordination, Hyperammonemia, Ataxia, Slurred speech	ORPHA:90062
Acute Adrenal Insufficiency	Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating ren...	ORPHA:95409
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Menkes Disease	Hypoglycemia, Spasticity, Chorea, Hypertonia	ORPHA:565
X-Linked Agammaglobulinemia	Alopecia, Weight loss, Failure to thrive	ORPHA:47
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Pigmentary retinopathy, Brushfield spots, Cerebral cortical atrophy	OMIM:214100
Focal Myositis	Weight loss	ORPHA:48918
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ...	OMIM:209900
Deafness-Lymphedema-Leukemia Syndrome	Weight loss, Abnormal optic nerve morphology	ORPHA:3226
Alg12-Cdg	Abnormal peripheral nervous system morphology, Hypoalbuminemia, Recurrent hypoglycemia, Hypochole...	ORPHA:79324
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Hypoglycemia	ORPHA:95496
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E...	ORPHA:171929
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy...	ORPHA:99826
Jacobsen Syndrome	Annular pancreas, Cerebral atrophy, Intestinal malrotation, Intrauterine growth retardation, Cryp...	ORPHA:2308
Cryptogenic Organizing Pneumonia	Weight loss, Anorexia	ORPHA:1302
Neuroblastoma	Myoclonus, Weight loss, Spinal cord compression, Horner syndrome, Ataxia	ORPHA:635
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri...	ORPHA:3337
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Congenital Tufting Enteropathy	Weight loss, Failure to thrive, Optic disc coloboma	ORPHA:92050
Pearson Syndrome	Growth delay, Decreased response to growth hormone stimulation test, Postnatal growth retardation...	ORPHA:699
Eosinophilic Granulomatosis With Polyangiitis	Weight loss, Central nervous system degeneration, Dysphagia, Hemiplegia/hemiparesis	ORPHA:183
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Fructose Intolerance, Hereditary	Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophospha...	OMIM:229600
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Brain atrophy, Abnormality of retinal pigmentation	ORPHA:505248
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Neuroendocrine Tumor Of The Rectum	Anorexia, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor	ORPHA:100082
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	CNS hypomyelination, Hypoglycemia	OMIM:614501
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cerebral cortical atrophy, Pigmentary retinopathy, Tremor	OMIM:277400
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia	OMIM:609069
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Carney-Stratakis Syndrome	Weight loss, Dysphagia, Paraganglioma	ORPHA:97286
Eosinophilic Gastroenteritis	Weight loss, Dysphagia	ORPHA:2070
Dend Syndrome	Hyperglycemia	ORPHA:79134
Bone Marrow Failure Syndrome 3	Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Hyperechogeni...	OMIM:617052
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Weight loss,...	ORPHA:330001
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia,...	ORPHA:85138
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Melas	Optic atrophy, Pigmentary retinopathy, Cerebral cortical atrophy, Vitiligo, Brain atrophy	ORPHA:550
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Carcinoid tumor, Weight loss, Neuroendocrine neoplasm	ORPHA:97289
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat...	ORPHA:580
Abetalipoproteinemia	Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy	ORPHA:14
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Proteus Syndrome	Retinal nonattachment, Chorioretinal coloboma, Abnormality of retinal pigmentation, Generalized h...	ORPHA:744
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Retinopathy, Peripheral axonal neuropathy, Apraxia, Weight loss, Ataxia	ORPHA:99885
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Abnormality of retinal pigmentation	ORPHA:175
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Ménétrier Disease	Weight loss, Anorexia	ORPHA:2494
Acute Monoblastic/Monocytic Leukemia	Weight loss, Anorexia	ORPHA:514
Shigellosis	Hyponatremia, Abnormal blood ion concentration, Hypoglycemia	ORPHA:810
Aggressive Systemic Mastocytosis	Weight loss, Anorexia	ORPHA:98850
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Spastic tetraparesis, Lower limb spasticity, ...	OMIM:615846
Jacobsen Syndrome	Optic atrophy, Spasticity, Annular pancreas, Intrauterine growth retardation, Cryptorchidism, Pyl...	OMIM:147791
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Diabetes mellitus	ORPHA:465508
Bronchial Neuroendocrine Tumor	Weight loss, Pulmonary carcinoid tumor, Anorexia	ORPHA:97287
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Intrauterine growth re...	OMIM:616975
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hypoglycemia	ORPHA:90790
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Impaired pain sensation, Pituitary adenoma, ...	ORPHA:96149
Congenital Syphilis	Optic atrophy, Hypoglycemia	ORPHA:499009
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Neonatal hypoglycemia, Hypoglycemia, Hypertriglyceridemia	OMIM:619418
African Trypanosomiasis	Alopecia, Myelitis, Myelopathy, Involuntary movements, Fasciculations, Abnormal central motor fun...	ORPHA:3385
Chronic Beryllium Disease	Weight loss	ORPHA:133
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Neonatal hypoglycemia, Gait ataxia	ORPHA:457359
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hypoglyc...	ORPHA:79259
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati...	OMIM:265380
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Weight loss, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100085
Fryns Syndrome	Meckel diverticulum, Polysplenia, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, ...	OMIM:229850
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia	ORPHA:90065
Nijmegen Breakage Syndrome	Neurodegeneration, Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
Osteosarcoma	Weight loss	ORPHA:668
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Central nervous system degeneration, Retinal degeneration,...	ORPHA:581
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Inability to walk, Intrauterine growth retardati...	ORPHA:97297
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Poems Syndrome	Leukonychia, Papilledema, Weight loss, Hypertrichosis	ORPHA:2905
Acute Promyelocytic Leukemia	Addictive alcohol use, Weight loss, Anorexia	ORPHA:520
Histiocytoid Cardiomyopathy	Hemiplegia, Optic atrophy, Hypoglycemia	ORPHA:137675
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia	OMIM:618005
Short Syndrome	Alopecia, Sparse hair, Weight loss	ORPHA:3163
Sheehan Syndrome	Hyponatremia, Hypoglycemia	ORPHA:91355
Polymyositis	Weight loss, Anorexia	ORPHA:732
Deeah Syndrome	Delayed CNS myelination, Neonatal hypoglycemia, Impaired pain sensation	OMIM:619004
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Short stature, Jaundice, Pancreat...	OMIM:208500
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217085
Cap Polyposis	Weight loss	ORPHA:160148
Cockayne Syndrome Type 3	Difficulty walking, Brain atrophy, Mild postnatal growth retardation, Peripheral axonal neuropath...	ORPHA:90324
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Weight...	ORPHA:440437
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor...	ORPHA:217093
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia	ORPHA:469
Hermansky-Pudlak Syndrome	Abnormal optic nerve morphology, Ocular albinism, Long eyelashes, Weight loss, Anorexia, Hypopigm...	ORPHA:79430
Neuroendocrine Tumor Of Stomach	Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anorexia, Paraganglioma	ORPHA:100075
Celiac Disease, Susceptibility To, 1	Alopecia, Weight loss, Failure to thrive, Ataxia	OMIM:212750
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Liposarcoma	Weight loss	ORPHA:69078
Cystinosis, Nephropathic	Pigmentary retinopathy, Polydipsia, Retinal pigment epithelial mottling, Cerebral atrophy, Failur...	OMIM:219800
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Lipodystrophy, Familial Partial, Type 2	Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus	OMIM:151660
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia	OMIM:233600
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Al Amyloidosis	Postural hypotension with compensatory tachycardia, Weight loss, Abnormal autonomic nervous syste...	ORPHA:85443
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Monosomy 18Q	Short stature, Poor coordination, Abnormal myelination, Growth delay, Choreoathetosis	ORPHA:1600
Alstrom Syndrome	Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy	OMIM:203800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Involuntary movements, Myoclonus, Stereotypical hand wringing, Exaggerate...	ORPHA:438213
Neurofibromatosis Type 1	Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera...	ORPHA:636
1P36 Deletion Syndrome	Optic atrophy, Cerebral cortical atrophy, Gastroesophageal reflux, Annular pancreas, Abnormality ...	ORPHA:1606
Bullous Pemphigoid	Weight loss	ORPHA:703
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials	ORPHA:401973
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
8P23.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Weight loss, Obesity	ORPHA:251071
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus	OMIM:248370
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Villous atrophy, Hepatomegaly, Macronodular cirrhosis, Pancrea...	OMIM:557000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:168558
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia	OMIM:613658
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi...	ORPHA:508
Meckel Syndrome	Accessory spleen, Optic atrophy, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidis...	ORPHA:564
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:289548
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Glycogen Storage Disease Ic	Hyperuricemia, Hyperlipidemia, Hypoglycemia	OMIM:232240
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pancreatic fibrosis	OMIM:615503
Gallbladder Neuroendocrine Tumor	Weight loss, Neuroendocrine neoplasm, Anorexia	ORPHA:100086
Pemphigus Vulgaris	Weight loss, Alopecia of scalp	ORPHA:704
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia	OMIM:301066
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Glycerol Kinase Deficiency	Hyperglycerolemia, Hypoglycemia, Hypertriglyceridemia	OMIM:307030
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Annular pancreas, Rhizomelia	OMIM:618162
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Abnormal CNS myelination, Inability to walk, Limb hypertonia, Corpus callosum atrophy...	OMIM:620371
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,...	OMIM:263520
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Yao Syndrome	Weight loss	OMIM:617321
Fanconi Anemia, Complementation Group D2	Annular pancreas, Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Short stature	OMIM:227646
Loeffler Endocarditis	Weight loss	ORPHA:75566
Nephroblastoma	Weight loss	ORPHA:654
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia	ORPHA:440713
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypertrichosis	ORPHA:1501
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Systemic Lupus Erythematosus	Alopecia, Chorea, Retinopathy, Weight loss, Anorexia	ORPHA:536
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Anteriorly placed anus, Cryptorchidism, Short stature, High palate	OMIM:268400
Felty Syndrome	Weight loss	ORPHA:47612
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Rheumatoid Arthritis	Weight loss	OMIM:180300
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Spasticity, Annular pancreas, Anteriorly placed anus, Streak ovary, Ag...	ORPHA:798
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia	ORPHA:293978
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Optic nerve hypoplasia	ORPHA:226307
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Dysphagia, Failure to thrive	ORPHA:1018
Refractory Celiac Disease	Weight loss	ORPHA:398063
Behçet Disease	Anorexia, Retinopathy, Hemiparesis, Optic neuritis, Abnormal pyramidal sign, Weight loss, Ataxia,...	ORPHA:117
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Pneumocystosis	Weight loss	ORPHA:723
Atypical Werner Syndrome	Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat...	ORPHA:79474
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ...	ORPHA:264450
Juvenile Dermatomyositis	Alopecia, Weight loss, Dysphagia	ORPHA:93672
Erdheim-Chester Disease	Weight loss, Polydipsia, Ataxia	ORPHA:35687
Malignant Atrophic Papulosis	Weight loss, Abnormal optic nerve morphology	ORPHA:679
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Pseudohypoparath...	ORPHA:116
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
Perlman Syndrome	Hypoglycemia	OMIM:267000
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Lymphoid Interstitial Pneumonia	Weight loss, Failure to thrive	ORPHA:79128
Renal Cysts And Diabetes Syndrome	Cerebral cortical atrophy, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary trac...	OMIM:137920
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Brucellosis	Failure to thrive, Chorea, Chorioretinitis, Weight loss, Abnormality of the peripheral nervous sy...	ORPHA:1304
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Simpson-Golabi-Behmel Syndrome	Hypoglycemia	ORPHA:373
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Toxic Epidermal Necrolysis	Polydipsia, Weight loss, Dysphagia	ORPHA:537
Granulomatosis With Polyangiitis	Retinal hemorrhage, Weight loss	OMIM:608710
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphag...	OMIM:619522
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive	OMIM:619377
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Caroli Disease	Weight loss, Anorexia	ORPHA:53035
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss, Periodic hypokalemic paresis, Abnormal hair quantity	ORPHA:91347
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Costello Syndrome	Vestibular schwannoma, Hypoglycemia	OMIM:218040
Renal Nutcracker Syndrome	Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:71273
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Multiple Endocrine Neoplasia Type 1	Pulmonary carcinoid tumor, Cranial nerve compression, Insulinoma, Pheochromocytoma, Glucagonoma, ...	ORPHA:652
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Riddle Syndrome	Clumsiness, Weight loss, Poor hand-eye coordination, Ataxia	ORPHA:420741
Q Fever	Weight loss, Anorexia	ORPHA:781
Alveolar Echinococcosis	Ataxia, Weight loss, Hemiparesis	ORPHA:284
Adult-Onset Still Disease	Weight loss	ORPHA:829
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Cystic Echinococcosis	Weight loss	ORPHA:400
Mucolipidosis Type Ii	Fine hair, Dry hair, Weight loss, White hair	ORPHA:576
Thymoma	Weight loss	ORPHA:99867
Igg4-Related Retroperitoneal Fibrosis	Weight loss, Anorexia	ORPHA:49041
Familial Pancreatic Carcinoma	Weight loss, Anorexia	ORPHA:1333
Sarcoidosis, Susceptibility To, 1	Weight loss, Optic neuropathy, Chorioretinitis, Anorexia	OMIM:181000
Stevens-Johnson Syndrome	Weight loss, Dysphagia	ORPHA:36426
Ppoma	Intestinal carcinoid, Weight loss, Anorexia	ORPHA:97278
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension	OMIM:606721
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
Grfoma	Intestinal carcinoid, Pheochromocytoma, Weight loss, Anorexia	ORPHA:97261
Lynch Syndrome	Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Weight...	ORPHA:144
Vipoma	Weight loss, Ganglioneuroma, Anorexia	ORPHA:97282
Postinfectious Vasculitis	Anorexia, Weight loss, Abnormality of the peripheral nervous system, Retinal vasculitis	ORPHA:48435
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Klatskin Tumor	Weight loss	ORPHA:99978
Multiple Myeloma	Weight loss, Spinal cord compression	ORPHA:29073
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Action tremor, Tremor	ORPHA:3455
Cushing Syndrome Due To Ectopic Acth Secretion	Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Pheochromocytoma, Hirsutism, Atypical pulmona...	ORPHA:99889
Parathyroid Carcinoma	Polydipsia, Weight loss, Dysphagia	ORPHA:143
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Hypoglycemia, Optic nerve hypoplasia	ORPHA:95494
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss, Retinopathy	ORPHA:900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Dysphagia, Failure to thrive	ORPHA:2020
Kikuchi-Fujimoto Disease	Anorexia, Alopecia, Weight loss, Ataxia	ORPHA:50918
Nocardiosis	Weight loss, Chorioretinitis, Anorexia	ORPHA:31204
Polycythemia Vera	Weight loss	ORPHA:729
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Fanconi Anemia	Aganglionic megacolon, Weight loss, Spina bifida	ORPHA:84
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypochloremia	ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss, Abnormal optic nerve morphology	ORPHA:79078
Somatostatinoma	Weight loss, Anorexia	ORPHA:97283
Castleman Disease	Weight loss	ORPHA:160
Zollinger-Ellison Syndrome	Glucagonoma, Weight loss, Neuroendocrine neoplasm	ORPHA:913
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Sotos Syndrome	Poor coordination, Neonatal hypoglycemia, Hypercalcemia, Tremor	ORPHA:821
Familial Thrombocytosis	Weight loss	ORPHA:71493
Chronic Graft Versus Host Disease	Alopecia, Nail dystrophy, Weight loss, Anorexia, Dysphagia	ORPHA:99921
Glucagonoma	Weight loss, Anorexia	ORPHA:97280
Reactive Arthritis	Dystrophic fingernails, Weight loss	ORPHA:29207
Dermatomyositis	Alopecia, Weight loss, Dysphagia, Abnormal hair quantity	ORPHA:221
Immunodeficiency 82 With Systemic Inflammation	Spinal cord granuloma, Weight loss, Anorexia	OMIM:619381
Degcags Syndrome	Intrauterine growth retardation, Abnormal myelination, Vocal cord paralysis	OMIM:619488
Immunodeficiency 31C	Weight loss	OMIM:614162
Pancreatoblastoma	Weight loss	ORPHA:677
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Alopecia totalis, Loss of eyelashes, Dystrophic fingernails, Patchy alopecia,...	ORPHA:740
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia	ORPHA:293987
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Rat-Bite Fever	Weight loss	ORPHA:31205
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Pyomyositis	Weight loss	ORPHA:764
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
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
Bardet-Biedl Syndrome	Insulin resistance, Impaired fasting glucose, Type II diabetes mellitus	ORPHA:110
Sarcoidosis	Alopecia, Facial palsy, Weight loss	ORPHA:797
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.

Order Mouse and ES Cells

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 21.1 Data