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Gene: Cln3 MGI:107537

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CLN3 lysosomal/endosomal transmembrane protein, battenin
Synonyms:
battenin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cln3 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.

The table below shows human diseases associated to Cln3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone... OMIM:204200
Cln3 Disease
Cerebellar atrophy, Ataxia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Shuffl... ORPHA:228346

The table below shows human diseases predicted to be associated to Cln3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
East Syndrome
Generalized-onset seizure, Ataxia, Salt craving, Renal salt wasting, Renal magnesium wasting, Ina... ORPHA:199343
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Polyuria, Renal magnesium wasting, Self-biting, Nephroc... OMIM:618314
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Seizure, Hypoca... OMIM:612780
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Retin... OMIM:256731
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... OMIM:264070
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum, Ataxia ORPHA:85334
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gli... OMIM:213200
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, I... OMIM:600363
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... ORPHA:309169
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Optic atrophy, Gliosis, Ataxia OMIM:236792
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Central Diabetes Insipidus
Hyponatremia, Anorexia, Seizure, Polydipsia, Nocturia ORPHA:178029
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Cystinosis
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur... ORPHA:213
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Seizure, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone... OMIM:204200
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal... OMIM:276880
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... OMIM:213600
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Nephrolithiasis, Athetosis, S... ORPHA:369929
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Gitelman Syndrome
Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Seizure, Hypokalemi... OMIM:263800
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Retinal degeneration OMIM:204500
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia OMIM:141500
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase, Distal sensory impairment OMIM:614369
Saccharopinuria
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Cystinuria, Seizure, Spastic... ORPHA:3124
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... OMIM:615048
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus,... OMIM:615924
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Basal ganglia gliosis, Failure to thrive ORPHA:225154
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Tremo... OMIM:614018
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Seizure, Polydipsia, Hypernatremia OMIM:125800
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... ORPHA:223
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babin... OMIM:618093
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Seizure, Polydipsia, Hypernatremia OMIM:304800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Gait disturbance, Gait imbalance, G... OMIM:618369
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... OMIM:164500
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... ORPHA:98764
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... ORPHA:276435
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Urinary incontinence, Bilat... ORPHA:100988
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing OMIM:619561
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Coloboma Of Macula
Macular coloboma OMIM:120300
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Transient hyperphen... OMIM:612716
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Ataxia, Optic atrophy, Retinal degeneration OMIM:256730
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Teratoma, Pineal
Hemiparesis, Polydipsia, Polyuria OMIM:273120
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dystonia OMIM:300857
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... OMIM:617665
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Dysto... OMIM:607136
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Optic atrophy, Dystonia, Retinal degeneration OMIM:252650
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... OMIM:618090
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... ORPHA:370022
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Urocanic Aciduria
Broad-based gait, Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait a... ORPHA:210128
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... ORPHA:247234
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Seizure ORPHA:212
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Sei... ORPHA:391417
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Retinopathy, Gliosis OMIM:615119
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Unsteady gait, Abnormal pyramidal sign, Bab... OMIM:616795
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Ataxia, Astrocytosis ORPHA:204
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Akinesia, Postural tremor, Aggressive behavior, Impulsivity, Limb ataxia, G... OMIM:607454
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Huntington Disease
Cerebellar atrophy, Gliosis, Gait ataxia OMIM:143100
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Macular degeneration, Tip-toe gait, Agenesis of corpus callosum, Spastic gait, Retinal de... OMIM:604360
Nephronophthisis 15
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614845
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Optic atrophy, Gliosis, Gait disturbance OMIM:603896
Leigh Syndrome
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Gliosis, Dystonia OMIM:256000
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Dystonia, Hyperkalemia, Renal hypoplasia, Li... OMIM:617595
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gait disturbance, Gliosis, Hand tremor OMIM:604484
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Seizure, Gait distur... ORPHA:399
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Ataxia, Retinal degeneration ORPHA:3363
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Poor coordination, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... ORPHA:18
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Ataxia, Polyuria, Myoclonus OMIM:560000
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity... OMIM:619028
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... ORPHA:90117
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ank... ORPHA:521406
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, S... OMIM:300894
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Gl... OMIM:256600
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... ORPHA:3095
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi... OMIM:617145
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Elevated circulating phytanic acid concentration, Hemiparesi... OMIM:614307
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral v... ORPHA:79243
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Gliosis, Cerebellar hypo... OMIM:225753
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... OMIM:615960
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Hemimegalencephaly
Optic atrophy, Gliosis, Abnormal neuron morphology ORPHA:99802
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... OMIM:618049
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... OMIM:617916
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Alg6-Cdg
Ataxia, Jaundice, Abnormality of the liver, Cerebellar hypoplasia, Rod-cone dystrophy, Retinal de... ORPHA:79320
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity OMIM:300983
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Seizure, Limb dy... ORPHA:71517
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Manganese Poisoning
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ... ORPHA:306682
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Abno... OMIM:619470
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Ataxia, Gliosis OMIM:612936
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis OMIM:611087
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Partial agenesis ... OMIM:616171
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Hypercalciuria ORPHA:251274
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Dystonia, Ataxia, Akinesia, Tremor, Craniofacia... ORPHA:48818
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Ankle clonus, Seizure, Bradyk... OMIM:617435
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Seizure, Gait distur... OMIM:603472
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Limb ataxia, Macular degeneration, Progressive gait ataxia, Progre... ORPHA:284289
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Oliguria, Renal ... ORPHA:97362
Hyperkalemic Periodic Paralysis
Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina... ORPHA:682
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Seizure, Hypokalemia, Hyperphosphatemia, Incre... OMIM:601198
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Elevated circulating creatine kinase concentration, Tremor, Dysphagia,... OMIM:159950
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium ORPHA:231580
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... ORPHA:98761
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Thickened superior cerebellar ped... OMIM:610688
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... OMIM:618387
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gait disturbance, Gliosis OMIM:221770
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... ORPHA:228360
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordinati... ORPHA:544254
Hsd10 Mitochondrial Disease
Choreoathetosis, Optic atrophy, Retinal degeneration OMIM:300438
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia OMIM:128235
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... ORPHA:79263
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My... OMIM:145600
Glutathionuria
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor OMIM:231950
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis, Gait disturbance, Shuffling gait OMIM:221820
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha... OMIM:606159
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Agenesis of co... ORPHA:168486
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Whipple Disease
Hyponatremia, Ataxia, Anorexia, Abnormal pyramidal sign, Seizure, Myoclonus, Polydipsia ORPHA:3452
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Bradykines... OMIM:261640
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Progressive cerebellar ataxia, Chorea, Astrocytosis ORPHA:282166
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidi... OMIM:183090
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Generalized-onset seizure, Renal magnesium wasting, Nephrocalcinosis, Statu... ORPHA:564178
Nephronophthisis 14
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614844
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Spastic/hyperactive bladde... ORPHA:137898
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Gait disturbance, Gliosis OMIM:300957
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia OMIM:605909
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Agenesis of corpus callosum, Gliosis OMIM:615095
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Hyperkinetic movements, Hyperphe... OMIM:233910
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... OMIM:617406
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... ORPHA:64753
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Arima Syndrome
Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary ... OMIM:243910
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubatio... OMIM:618877
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... OMIM:609270
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Photosensi... ORPHA:1192
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwhee... OMIM:619725
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia ORPHA:403
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensat... OMIM:616586
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal audito... OMIM:619260
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... ORPHA:3077
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Optic atrophy, Opisthotonus, Gliosis, Cerebellar hypoplasia, Dystonia OMIM:277470
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Hyperkalemia, Seizure OMIM:614736
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Reduced haptoglobin level OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Rod-cone dystrophy, Retinal atrophy, Ataxia OMIM:610127
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Retinal atrophy, Postural tremor, Hypoplasia of the pons, Unsteady gait, Limb... ORPHA:412057
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Spastic Paraplegia 15, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Macular degeneration, Spastic gait, Retinal degeneration OMIM:270700
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar hypoplasia, Difficulty ... ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti... OMIM:234200
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Gliosis, Cerebellar dysplasia ORPHA:457240
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Spastic/hyperactive bladder, Dysph... ORPHA:411602
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Infantile spasms OMIM:278780
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Focal-on... ORPHA:358
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, A... ORPHA:225147
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Akinesia, Spastic tetraplegia, Seizure, Hypertonia... OMIM:619147
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, Postural tremor, Act... OMIM:254900
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... OMIM:612953
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Seizure, Nephropathy ORPHA:820
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Pigmentary retinopathy, Loss of ambulation, Retinal degene... ORPHA:79264
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Urinary incontinence, Parkinsonism, Action tremor, Impaired dist... OMIM:300623
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Hyperkalemia, Slurred speech, Renal tubular epithelial necrosis, Ren... ORPHA:31826
Wolfram Syndrome
Recurrent urinary tract infections, Ataxia, Dysuria, Seizure, Abnormality of the urinary system, ... ORPHA:3463
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Limb ataxia, Progressive cerebell... OMIM:109150
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Tremor, Unsteady gait, Optic atrophy, Difficulty walking, Retinal degeneration ORPHA:442835
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Elevated circu... ORPHA:94093
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Broad-based gait, Gait disturbance, Arm dystonia, Difficulty walking, Retina... ORPHA:79244
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Nephrolithi... ORPHA:99880
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Cryptorchidism, Hemiplegia/hemiparesis, Seizure, Polydipsia ORPHA:3157
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Hyperkinetic movements, Polydipsia, Polyphagia ORPHA:525731
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Gliosis, Abnormal upper mo... ORPHA:275872
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Testicular neoplasm, Nephrolithi... ORPHA:143
Huntington Disease-Like 1
Cerebellar atrophy, Dysmetria, Gait ataxia, Gait disturbance, Gliosis ORPHA:157941
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia ORPHA:139485
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... OMIM:615157
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Seizure, Attention deficit hypera... ORPHA:3375
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... ORPHA:206443
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... OMIM:619738
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... OMIM:208920
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Abnormal cerebellum morphology, Gliosis, Autonomic bladder dysfunction, Autonomic erectil... OMIM:169500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Aceruloplasminemia
Blepharospasm, Torticollis, Ataxia, Retinal degeneration OMIM:604290
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, Bruxism, Spasticity, ... OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Crigler-Najjar Syndrome Type 1
Tremor, Seizure, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... OMIM:618060
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Optic atrophy, Agenesis of corpus callosum, Gliosis OMIM:616239
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:264350
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Optic atrophy, Retinal degeneration OMIM:249270
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysme... ORPHA:845
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic ... OMIM:615630
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis OMIM:105550
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Ataxia, Elevated circulating creatine kinase concentration,... OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Cryptorchidism, H... ORPHA:361
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal ... ORPHA:363400
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration OMIM:200100
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:170500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Gliosis, Retinal degene... OMIM:248500
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Seizure, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Hypobetalipoproteinemia, Familial, 1
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alani... OMIM:615558
Hsd10 Disease, Infantile Type
Optic atrophy, Choreoathetosis, Dystonia, Loss of ambulation, Rod-cone dystrophy, Retinal degener... ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... OMIM:617013
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... ORPHA:329284
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Bull's eye maculopathy, Optic atrophy, Craniofacial dystonia, Leg dystonia, Choreoathet... ORPHA:157850
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... ORPHA:477673
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Seizure, Dystonia, Self-mutilation OMIM:619422
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Seizure, Dystonia, Loss of ... OMIM:607694
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Dandy-Walker malformation, Abnorm... ORPHA:3032
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:145260
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Hypoadrenocorticism, Familial
Hyponatremia, Seizure, Hyperkalemia OMIM:240200
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Horseshoe kidney, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spast... OMIM:617664
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration, Opisthotonus OMIM:616896
Pseudohypoaldosteronism Type 2
Hyperkalemia, Periodic paralysis ORPHA:757
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Nephrolithiasis, Spastic tetraplegia, Myoclonic s... OMIM:615474
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... OMIM:615673
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysphagia, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnor... ORPHA:289494
Marchiafava-Bignami Disease
Ataxia, Urinary incontinence, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia... ORPHA:221074
Progressive Supranuclear Palsy
Tremor, Unsteady gait, Blepharospasm, Falls, Gliosis, Dystonia ORPHA:683
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Gliosis, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:214150
Erdheim-Chester Disease
Renal insufficiency, Ataxia, Dysuria, Polydipsia, Hydronephrosis ORPHA:35687
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria ORPHA:95513
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypo... OMIM:618183
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Mercury Poisoning
Anorexia, Tremor, Seizure, Hypokalemia, Dystonia, Acute kidney injury ORPHA:330021
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain... ORPHA:300573
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Brain-Lung-Thyroid Syndrome
Hyperactivity, Dystonia, Ataxia, Hypospadias, Incoordination, Involuntary movements, Abnormal eat... ORPHA:209905
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive, Ataxia, Jaundice, Astroc... OMIM:203700
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensatio... ORPHA:447753
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hepatomegaly, Gliosis, Limb dystonia, Basal ganglia gliosis OMIM:604377
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Gait disturbance, Shuffling gait, Gliosis, Dystonia, Loss of ambulation OMIM:168601
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Seizure, Hypertonia, Conv... OMIM:608885
Sialidosis Type 2
Tremor, Nephropathy, Seizure, Ataxia ORPHA:87876
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Urinary incontinence, Rigidity, Babinski sign, Dysphagia,... ORPHA:75567
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Methylmalonic aciduria, Dysmetria OMIM:615578
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Portal hypertension, Jaundice, Astrocytosis, Dysdiadochokinesis, T... ORPHA:309854
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... ORPHA:79102
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Inability to walk, Gait disturbance, Retinal degeneration ORPHA:168491
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Gliosis, Cerebellar h... ORPHA:3240
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Hepatomegaly, Elevated hepatic tr... ORPHA:404454
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Spinocerebellar Ataxia Type 42
Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G... ORPHA:458803
Myoclonic-Astatic Epilepsy
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Attention deficit hyperactivity disorder OMIM:619556
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... OMIM:612164
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Ataxia, Tremor, Hyperbilirubinemia, Myoglobinuria ORPHA:713
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Impaired pain sensation, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresi... ORPHA:293987
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Gliosis OMIM:617193
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas... ORPHA:95409
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... ORPHA:157846
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration, Dysmetria OMIM:619780
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia,... OMIM:312170
Refsum Disease, Classic
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Rabson-Mendenhall Syndrome
Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level ORPHA:769
Pituitary Dermoid And Epidermoid Cysts
Seizure, Polydipsia, Abnormal central motor function, Oligozoospermia ORPHA:91351
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Glutaric aciduria, Chorea, C... ORPHA:25
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular... OMIM:313200
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Leigh Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Choreoathetosis, Athetosis, Abnormal optic n... ORPHA:506
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Urinary urgency, Bradykinesia, Dystoni... OMIM:168600
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Retinal degeneration OMIM:272200
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Renal Tubular Acidosis Iii
Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis... OMIM:267200
Hyperlysinemia
Neck hypertonia, Hyperactivity, Poor motor coordination, Dysphagia, Simple febrile seizure, Spast... ORPHA:2203
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal cerebellar peduncle morphology, Resting tremor, A... ORPHA:909
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... OMIM:614867
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... ORPHA:812
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Senior-Loken Syndrome 9
Retinal dystrophy, Cholestasis, Macular degeneration, Hepatic fibrosis, Rod-cone dystrophy OMIM:616629
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619473
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Dysphagia, Distal sensory impairment OMIM:607734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Cerebellar hypoplasia, Retinal degeneration OMIM:615249
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Gliosis OMIM:300215
Scheie Syndrome
Retinal degeneration OMIM:607016
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Limb hypertonia OMIM:617162
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Multifocal seizures, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetrapl... OMIM:617710
Pick Disease Of Brain
Gliosis OMIM:172700
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hyperkalemia, Para... OMIM:617053
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... ORPHA:731
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia ORPHA:537
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Inability to walk, Lateral ventricle dilatation, Gait disturbanc... ORPHA:2822
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Anorexia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Copper accumulation in liver, Gliosis, Elevated hepatic iron concentration, B... OMIM:614946
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Tetanus
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... ORPHA:3299
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia ORPHA:97229
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Somatic sensory dysfunction, Restlessness, Dysuria... ORPHA:79276
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Dystonia ORPHA:404451
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... ORPHA:70594
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Seizure, Dysphagia, Testicular atrophy, Hydronep... OMIM:222300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Seizure, Hypokale... ORPHA:173
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Tip-toe gait, Abnormal optic nerve morphology, Gait distur... ORPHA:83629
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Gliosis, Retinal degeneration, Intentio... ORPHA:191
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... OMIM:137440
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait, ... OMIM:616505
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, I... OMIM:614298
Congenital Myopathy 9A
Cryptorchidism, Tongue fasciculations, Akinesia OMIM:618822
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... ORPHA:94080
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity... ORPHA:79254
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemipares... OMIM:105210
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Seizure, Aminoac... OMIM:617913
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Lateral ventricle dilatation, Gliosis, Opisthotonus OMIM:619847
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia, Periodic paralysis OMIM:613345
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutaminemia, Ataxia, Seizur... ORPHA:3008
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Inability to walk, Gliosis, Decr... ORPHA:26791
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Akinesia OMIM:607598
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Seizure, Dysphagia, Mitochondrial swelling, Mildly elevated creatin... ORPHA:397744
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Cryptorchidism, Hyperkalemia, Azoospermia, Increas... ORPHA:90791
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Hypera... OMIM:209900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Clonus, Babinski sign, Dysmetria, Gait ataxia, Distal sensory imp... OMIM:606721
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Ddost-Cdg
Tremor, Seizure, Oromotor apraxia, Nephrotic range proteinuria ORPHA:300536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Arthrogryposis Multiplex Congenita 6
Hypospadias, Akinesia OMIM:619334
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619790
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ... OMIM:301072
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hemiparesis, Seizure, Hypocalcemia, Acute kidney in... ORPHA:544482
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Astrocytosis ORPHA:258
Addison Disease
Hyponatremia, Primary testicular failure, Salt craving, Hypercalcemia, Anorexia, Decreased urinar... ORPHA:85138
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Nipah Virus Disease
Tremor, Seizure, Myoclonus, Anorexia ORPHA:99825
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Dysp... ORPHA:98794
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... OMIM:614381
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Gliosis ORPHA:88619
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus OMIM:607876
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Ataxia, Facial palsy, Dysmetria, Aplasia... ORPHA:456312
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystroph... ORPHA:90324
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Abnormal circulating fatty-acid concentration, Tremor, Seizure, Renal Fanconi syndro... ORPHA:263455
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Gait ataxia, Gliosis, Dystonia OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Gliosis, Difficulty walking, Dystonia OMIM:618222
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Seizure, Hype... ORPHA:466650
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... OMIM:277900
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Urinary incontinence, Tremor, Fasciculations, Difficulty walking, Frequent falls, M... ORPHA:329478
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Enuresis nocturna, Seizur... OMIM:619680
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis OMIM:613239
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Bilateral tonic-clo... ORPHA:1934
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Inability... ORPHA:72
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Seizure, Hyperuricemia ORPHA:199299
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Hypoplasi... ORPHA:370959
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... ORPHA:31824
Joubert Syndrome With Renal Defect
Renal insufficiency, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Nephropathy ORPHA:220497
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Generalized clonic seizure, Tr... OMIM:619229
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Hyperka... ORPHA:168558
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Chiari type I malformation, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsiv... ORPHA:476126
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Decreased nerve conduction veloc... OMIM:261515
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Seizure, Hypertonia, Agitation, Myoclonus, Acute kidney i... ORPHA:43116
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Abnormal urine potassium concentration, Hyperka... ORPHA:289548
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, 3-Methylglutaconic aciduria, Hyperkinetic... OMIM:616271
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Gliosis, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney, Seizure, Status epilepticus, Spasticity OMIM:617140
Metachromatic Leukodystrophy
Incoordination, Ataxia, Urinary incontinence, Tremor, Seizure, Tip-toe gait, Gait disturbance, De... ORPHA:512
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia, Periodic paralysis OMIM:170400
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Ataxia, Abnormal fundus morphology, Dysmetria, Macul... ORPHA:94147
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Congenital Disorder Of Glycosylation, Type Ij
Infantile spasms, Aggressive behavior, Tremor, Cryptorchidism, Seizure, Hypertonia, Hypoproteinemia OMIM:608093
Liddle Syndrome 1
Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Hyperkalemia, Perineal hypospadia... OMIM:201810
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Hypoplasia of the pons, Gait ataxia, Cerebellar hypoplasia, Retinal degeneration, Dandy-Walker ma... OMIM:618479
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Ce... OMIM:236670
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... ORPHA:276621
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Paralysis, Respiratory paralysis, Periodic hypokalemic paresis, Mildly elev... ORPHA:681
Lujo Hemorrhagic Fever
Resting tremor, Renal insufficiency, Bilateral tonic-clonic seizure, Elevated circulating C-react... ORPHA:319213
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Fasciculations, Hydronep... OMIM:620327
Alternating Hemiplegia Of Childhood
Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Ch... ORPHA:2131
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Tremor, Elevated circulating creatinine concentration, In... OMIM:274150
Trichothiodystrophy
Partial agenesis of the corpus callosum, Gait ataxia, Macular degeneration, Diffuse cerebellar at... ORPHA:33364
African Trypanosomiasis
Renal insufficiency, Abnormal central motor function, Somatic sensory dysfunction, Urinary incont... ORPHA:3385
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Focal motor se... ORPHA:86309
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Kleefstra Syndrome Due To A Point Mutation
Gliosis, Cerebellar hypoplasia ORPHA:261652
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy ORPHA:436245
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Methylma... OMIM:251100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... OMIM:615356
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Lassa Fever
Seizure, Oliguria, Dysphagia ORPHA:99824
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Ataxia, Tremor, Cryptorchidism, Hyperammonemia, Seizure, 3-Methylglutaconic aciduria... OMIM:614052
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... OMIM:146500
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Dystonia, Medullary nephrocalcinosis OMIM:618947
Gaucher Disease, Perinatal Lethal
Seizure, Dysphagia, Akinesia, Opisthotonus OMIM:608013
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Dysmetria, Athetosis, Hepatic fibrosis, Gliosis, Dec... OMIM:615273
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ketonuria, Ataxia, Increased circulating NT-proBNP concentration,... ORPHA:466677
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone... OMIM:616307
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Seizure, Status epilepticus,... ORPHA:1930
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis OMIM:617186
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Seizure, Macroorchidism, Hyperkalemia ORPHA:90790
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:98755
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Seizure, Hyp... ORPHA:90038
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Urinary incontinence, Tremor, Inabilit... ORPHA:466768
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H... ORPHA:275761
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphag... ORPHA:572798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Abnormal pons morphology, Lateral ventricle dilat... OMIM:300868
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity ORPHA:320365
Werner Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:277700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia OMIM:175500
Congenital Disorder Of Glycosylation, Type Ia
Generalized-onset seizure, Proteinuria, Ataxia, Tremor, Renal cyst, Dysmetria, Nephrotic syndrome... OMIM:212065
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Jaundice, Optic atrophy, Pigmentary retinopathy, Abnormality of macular... ORPHA:79282
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Loss... ORPHA:581
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... ORPHA:29072
Japanese Encephalitis
Hyponatremia, Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfun... ORPHA:79139
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, D... OMIM:216400
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Oliguria, Hematuria, Paresthesia ORPHA:727
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology ORPHA:163961
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia OMIM:225790
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Hurler Syndrome
Splenomegaly, Hepatomegaly, Retinal degeneration, Hepatosplenomegaly OMIM:607014
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Paresthesia, Increased urinary potassium ORPHA:231625
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... ORPHA:2828
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp... ORPHA:646
Bohring-Opitz Syndrome
Retinal atrophy, Inability to walk, Optic atrophy, Cholelithiasis, Annular pancreas, Agenesis of ... ORPHA:97297
Cockayne Syndrome Type 1
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Tremor, Cryptorchidism, Seizure,... ORPHA:90321
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria, Dysphagia ORPHA:220393
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology ORPHA:79279
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Fetal Akinesia Deformation Sequence
Cryptorchidism, Akinesia ORPHA:994
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Ataxia, Increased circulating guanosine concentration, Hypour... OMIM:613179
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Microvesicular hepatic steatosis, Partial... OMIM:220111
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Abnormal renal tubule morphology ORPHA:188
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Tremor, Seizure, Gait disturbance, Ocu... ORPHA:1454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retinal detachment, Abnormal optic chiasm morphology, Broad-based gait, Ataxia, Gait disturbance,... ORPHA:268261
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypokalemia, Hypertonia, Myoclonus... OMIM:618426
Kallmann Syndrome
Hypoplasia of penis, Renal agenesis, Ataxia, Tremor, Cryptorchidism, Paraplegia, Seizure, Gait di... ORPHA:478
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Periodic paralysis OMIM:188580
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Tremor, Hydronephrosis, Choreoa... OMIM:614080
Cln3 Disease
Cerebellar atrophy, Ataxia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Shuffl... ORPHA:228346
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Cerebellar hypoplasi... OMIM:253280
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Gai... ORPHA:254892
Ataxia-Telangiectasia
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ... OMIM:208900
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Bilateral tonic-clonic seizure, Elevated circulating creatine ki... ORPHA:90068
Pearson Syndrome
Renal insufficiency, Proteinuria, Ataxia, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophospha... ORPHA:699
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Generalized non-motor (absence) seizure ORPHA:293978
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Testicular adrenal rest tumor, Elevat... ORPHA:90794
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors,... ORPHA:534
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal... ORPHA:333
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum OMIM:618325
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Sepsis In Premature Infants
Seizure, Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure ORPHA:90051
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Gabriele-De Vries Syndrome
Waddling gait, Tremor, Gliosis, Dystonia, Agenesis of corpus callosum ORPHA:506358
Romano-Ward Syndrome
Seizure, Hypokalemia ORPHA:101016
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Opisthotonus OMIM:252160
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Opisthotonus OMIM:252150
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Glycosuria... OMIM:616539
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatic steatosis, Hepatomegaly, Macular atrophy, Microvesicular hepatic steato... OMIM:619418
47,Xyy Syndrome
Cryptorchidism, Abnormal brainstem morphology, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Slc35A2-Cdg
Lateral ventricle dilatation, Abnormal midbrain morphology, Atrophy/Degeneration affecting the br... ORPHA:356961
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal foveal morphology, Decre... ORPHA:580
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Dysphagia, Seizure, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hyper... OMIM:617248
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Adrenocortical Carcinoma
Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis ORPHA:1501
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Testicular adrenal rest tumor, Hypokalemia, Increased urinary 11-... ORPHA:90795
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Retinal dystrophy, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibros... OMIM:266920
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Renal cortical adenoma ORPHA:231632
Osteootohepatoenteric Syndrome
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration OMIM:619377
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Gliosis, Facial palsy OMIM:615873
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... ORPHA:1435
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity ORPHA:51188
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis OMIM:219090
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Joubert Syndrome 2
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... OMIM:608091
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... ORPHA:99826
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Bilateral cryptorchidism, Hypokalemia, Micropenis, Increased urinary 11-deoxycortico... ORPHA:90793
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy ORPHA:2785
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypospadias, Cryptorchidism, Hyperkalemia, Horseshoe kidney, Micropenis, Chordee, V... OMIM:201750
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Lingual dystonia ORPHA:3132
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Kinked brainstem OMIM:617822
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Dandy-Walker malformation ORPHA:99776
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity ORPHA:444013
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology ORPHA:2720
Gangliocytoma
Abnormal brainstem morphology ORPHA:251937
Joubert Syndrome 1
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cer... OMIM:213300
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hepatic steatosis, Retinal degeneration ORPHA:79474
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity ORPHA:254930
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis OMIM:617403
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Hypokalemia, Oligozoospermia ORPHA:786
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia, Testicular neoplasm ORPHA:199244
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Long penis, Decreased testicular size, Decreased circulating renin level OMIM:202010
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Tsh-Secreting Pituitary Adenoma
Tremor, Seizure, Hypokalemia, Periodic hypokalemic paresis ORPHA:91347
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Abnormal brainstem morphology ORPHA:464311
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl... ORPHA:508
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology ORPHA:93256
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity ORPHA:83597
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
X-Linked Cerebral Adrenoleukodystrophy
Abnormal brainstem white matter morphology ORPHA:139396
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Achondroplasia
Brain stem compression OMIM:100800
Sarcoidosis
Hepatomegaly, Facial palsy, Portal hypertension, Abnormal liver parenchyma morphology, Decreased ... ORPHA:797
Alobar Holoprosencephaly
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:93924
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:220386
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... OMIM:619991
Pmm2-Cdg
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Abnormal liver parenchyma mo... ORPHA:79318
Tick-Borne Encephalitis
Abnormal brainstem MRI signal intensity, Abnormal medulla oblongata morphology ORPHA:297
Arnold-Chiari Malformation Type I
Brain stem compression ORPHA:268882
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Retinal pigment epithelial atrophy, Ret... ORPHA:64
Listeriosis
Abnormal brainstem MRI signal intensity ORPHA:533
Meningioma
Brain stem compression ORPHA:2495
Full Nf2-Related Schwannomatosis
Brain stem compression ORPHA:637
Osteogenesis Imperfecta
Brain stem compression ORPHA:666
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia ORPHA:286

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 Cln3

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 Cln3.

No publications found that use IMPC mice or data for Cln3.

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
Cln3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cln3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cln3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cln3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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