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Gene: Ctsd MGI:88562

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Gene Summary

Name:
cathepsin D
Synonyms:
CD,  CatD

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ctsdtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating aspartate transaminase level Ctsdtm1b(EUCOMM)Wtsi HET Early adult 4.48×10-11
decreased hematocrit Ctsdtm1b(EUCOMM)Wtsi HET Early adult 6.65×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Ctsd 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 Ctsd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ceroid Lipofuscinosis, Neuronal, 10
Status epilepticus, Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Rod-cone d... OMIM:610127

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Vacuolated lymphocytes, Retinal degeneration, Macular degeneration, Cerebral ... OMIM:204200
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Gliosis, Dysmetr... OMIM:607136
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Blindness, Bradykinesia, Dysmetria, Progressive visual loss, Truncal ataxia, Hemiparesis,... OMIM:601338
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... OMIM:221820
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Sandhoff Disease
Failure to thrive, Ataxia, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Seizure, Bl... ORPHA:796
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Generalized myoclonic seizure, Retinopathy, Pigmentary retinopathy, Neu... OMIM:610951
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:254886
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... OMIM:619862
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Seizure, Corticospi... OMIM:551500
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Chokin... ORPHA:399
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Brain atrophy, Chorea, Tremor, Generalized-onset seizure, Spasticity, Unsteady gait, Prog... ORPHA:79263
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia, Cerebellar atrophy, Seizure... ORPHA:71517
Leber Optic Atrophy And Dystonia
Bradykinesia, Visual loss, Athetosis, Optic atrophy, Leber optic atrophy, Spasticity, Dysphagia, ... OMIM:500001
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Frequent falls,... ORPHA:216873
Severe Canavan Disease
Inability to walk, Gastroesophageal reflux, Decerebrate rigidity, Babinski sign, Optic atrophy, B... ORPHA:314911
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies OMIM:614164
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Macular degeneration, Cerebral atrophy, Myoclonus, Optic atrophy, S... OMIM:256730
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Spasticity, Seizure, Blindness, Severely reduced visual acuity OMIM:309555
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... OMIM:143100
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... ORPHA:98762
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Dysphagia, Postu... ORPHA:210571
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Cachexia, Weight loss, Intestinal pseudo-obstruction, Hearing impai... OMIM:613662
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Ravine Syndrome
Failure to thrive, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Abnormal ... ORPHA:99852
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... OMIM:300894
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dysphagia OMIM:618317
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Dysphagia ORPHA:228169
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Rod-c... OMIM:183090
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... ORPHA:282166
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ab... OMIM:617225
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... OMIM:603516
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Gli... ORPHA:157941
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Bradykinesia, Cleft palate, Macrovesicular hepatic steatosis, Ch... OMIM:614924
Diencephalic Syndrome
Decreased body weight, Cachexia, Optic atrophy, Macrotia, Hyperhidrosis ORPHA:1672
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, R... ORPHA:644
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... ORPHA:98755
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... ORPHA:329284
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Cachexia, Progressive he... ORPHA:97229
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness, Spasticity, Seizure ORPHA:85336
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Caribbean Parkinsonism
Action tremor, Bradykinesia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiol... ORPHA:97355
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... OMIM:600116
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dysphagia OMIM:128235
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormal autonomic ner... OMIM:109150
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity, Seizure OMIM:618824
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... ORPHA:13
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegi... OMIM:300055
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Retinal degenerat... ORPHA:79264
Mitochondrial Neurogastrointestinal Encephalomyopathy
Sensorineural hearing impairment, Decreased number of large peripheral myelinated nerve fibers, A... ORPHA:298
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... OMIM:614436
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... ORPHA:100984
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Axonal degeneration, Onion bulb formation, Decreased motor nerv... OMIM:302800
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Spasticity, Cerebellar atrophy, Seizure, Blindness OMIM:617899
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Optic d... ORPHA:98768
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Visual impairment, Slurred... ORPHA:206443
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Diplopia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxi... OMIM:258450
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Ankle clonus, Reduce... ORPHA:506353
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Gait ataxia, Postural tre... ORPHA:101150
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism, Tr... ORPHA:521406
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum OMIM:609161
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Optic atrophy, Spastic tetraparesis, Spastic gait OMIM:619052
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:1144
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Failure to thrive, Cerebral atrophy, Gait disturbance, Seizure, Blindness, ... OMIM:236270
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Failure to thrive, Cerebral atrophy, Poor coordination, Gait disturbance, S... OMIM:250940
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Amyotrophy, Hereditary Neuralgic
Cleft palate, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, Lo... OMIM:162100
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Rod-cone dystrophy, Tip-toe gait, Pigmentary retinopathy, Freque... ORPHA:216866
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Blindness, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoath... ORPHA:726
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Diffuse cerebral atrophy, Shufflin... ORPHA:412066
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... OMIM:619911
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Reduced visual acuity, Abnormal pyramidal sign, Incoordination, Optic atrophy, Tremor, Un... OMIM:614947
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... OMIM:604320
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Protein-losing enteropathy OMIM:619063
Migraine, Familial Hemiplegic, 3
Hemiplegia, Photophobia, Hemiparesis, Seizure, Blindness OMIM:609634
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Krabbe Disease
Hypertonia, Failure to thrive, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimm... OMIM:245200
Christianson Syndrome
Neuronal loss in central nervous system, Cerebral cortical atrophy, Gastroesophageal reflux, Cach... ORPHA:85278
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Dysphagia, Blindness, Chorea, Gait disturbance OMIM:607674
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormal lowe... ORPHA:93941
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Gait disturbance, Upper limb spasti... OMIM:618418
Leber Congenital Amaurosis 1
Photophobia, Hepatomegaly, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessel... OMIM:204000
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Tremor, Optic disc pallor, Scotoma, Abnormality of extrapyr... OMIM:165300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ... OMIM:243150
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Nyctalopia, Splenomegaly, Cirrhosis, Biliary trac... ORPHA:79301
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Retinal degeneration, Spasticity, Generalized... ORPHA:168491
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Low-set ears, High palate, Gastroesophageal reflux, Cachexia, Cerebellar atrophy... OMIM:618186
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Moynahan Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:2574
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Retinitis Pigmentosa 89
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Rod-cone dystrophy, Nyctalopia, Constr... OMIM:618955
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... OMIM:615643
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... ORPHA:225147
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Progressive cerebellar ataxia, Bradykinesia, Resting t... ORPHA:227510
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:168100
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Leukoencephalopathy With Vanishing White Matter
Gliosis, Primary gonadal insufficiency, Optic atrophy, Gait disturbance, Spasticity, Unsteady gai... OMIM:603896
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dys... OMIM:609033
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Involuntary m... OMIM:612067
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Microcytic anemia, Axonal degeneration OMIM:618811
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Spinocerebellar Ataxia 48
Dysphagia, Cachexia, Cerebellar atrophy OMIM:618093
Cach Syndrome
Cerebellar vermis atrophy, Pancreatitis, Optic neuritis, Limb ataxia, Dysmetria, Cerebral atrophy... ORPHA:135
Childhood-Onset Nemaline Myopathy
Slender build, Neuromuscular dysphagia, Facial diplegia, Clumsiness, Bradykinesia, High palate, D... ORPHA:171439
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor OMIM:616710
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Ataxia, Color vision defect, Reduced visual acuity, Myoclonic seizure, Optic disc pa... OMIM:616732
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Reduced visual acuity, B... OMIM:618770
Immunodeficiency 8
Lymphopenia OMIM:615401
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conducti... OMIM:604168
Hsd10 Disease, Infantile Type
Loss of ambulation, Retinal degeneration, Cerebral atrophy, Poor coordination, Rod-cone dystrophy... ORPHA:391428
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Abnormal autonomic nervous system physiology, Optic a... OMIM:598500
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Immunodeficiency 40
Lymphopenia OMIM:616433
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Cronkhite-Canada Syndrome
Malabsorption, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal polyposis, Col... ORPHA:2930
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte... OMIM:300400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Abcd Syndrome
Polycythemia, Neonatal death, Large for gestational age, Abnormal auditory evoked potentials, Tot... OMIM:600501
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... OMIM:618877
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Cerebral atrophy, Focal imp... OMIM:607208
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Retinal degeneration, Babinski sign, Optic atrophy, Tremor, Spasticity, Abnormal pyramida... OMIM:234200
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Neurodegenera... OMIM:606159
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Classic Progressive Supranuclear Palsy Syndrome
Photophobia, Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medica... ORPHA:240071
Canavan Disease
Hypertonia, Abnormality of retinal pigmentation, Gastroesophageal reflux, Optic atrophy, Visual i... ORPHA:141
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Intenti... OMIM:208900
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Retinal flecks, Optic atrophy, Tics, Spasticity, Visual impairment, Bull's ... ORPHA:157850
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Orthostatic hypotension, Peripheral axonal degeneration, Decreased number of... OMIM:608720
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Hepatomegaly, Micronodular cirrhosis, Spastic paraparesis, Splenomegal... ORPHA:309854
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Inability to walk, Cerebral atrophy, Focal impaired awareness seizure, Genera... ORPHA:1947
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Gastroesophageal reflux, Limb hypertonia, Abnormal pyramidal sign, Park... ORPHA:238455
Spastic Paraplegia 81, Autosomal Recessive
Inability to walk, Cleft palate, Ankle clonus, Reduced visual acuity, Babinski sign, Bifid uvula,... OMIM:618768
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Tremor, Seizure ORPHA:70594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Bardet-Biedl Syndrome 21
Blindness, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypopla... OMIM:617406
Renpenning Syndrome
Sensorineural hearing impairment, Anal atresia, High, narrow palate, Cleft palate, Cachexia, Roun... ORPHA:3242
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Spastic Paraplegia 55, Autosomal Recessive
Reduced visual acuity, Babinski sign, Distal sensory impairment, Spastic paraplegia, Optic atroph... OMIM:615035
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity, Visua... OMIM:610156
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Reduced visual acuity, ... OMIM:270500
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... OMIM:617519
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Loss of ambulation, Spastic paraparesis, Generalized myoclonic seizure, Reduced visual ac... ORPHA:3208
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Alg6-Cdg
Increased circulating androgen concentration, Failure to thrive, Ataxia, Retinal degeneration, Ro... ORPHA:79320
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Flynn-Aird Syndrome
Cachexia, Cerebral cortical atrophy, EEG abnormality, Progressive sensorineural hearing impairment ORPHA:2047
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Adult-Onset Nemaline Myopathy
High palate, Neuromuscular dysphagia, Difficulty walking, Bradykinesia ORPHA:171442
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Retinitis Pigmentosa
Photophobia, Blindness, Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal v... ORPHA:791
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Gm1 Gangliosidosis
Ataxia, Oral aversion, Optic atrophy, Tremor, Spasticity, Unsteady gait, Weight loss, Bilateral t... ORPHA:354
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Cohen Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Small for gestational... OMIM:216550
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Nyctalopia... ORPHA:99947
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Color vision defect, Dysdiadochokinesis, B... ORPHA:98890
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Nephronophthisis 15
Obesity, Blindness, Retinal degeneration, Seizure OMIM:614845
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... ORPHA:98760
Leukodystrophy, Hypomyelinating, 15
Failure to thrive, Ataxia, Hypermetropia, Loss of ambulation, Cerebral atrophy, Intention tremor,... OMIM:617951
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Tremor, Cogwheel rigidity, Visual impairment, Hypertonia, Resting tremor... ORPHA:254892
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Infantile Refsum Disease
Failure to thrive, Ataxia, Hepatomegaly, Nyctalopia, Rod-cone dystrophy, Constriction of peripher... ORPHA:772
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyrami... ORPHA:97349
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Hypermanganesemia With Dystonia 1
Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradykinesia, Polycythemia, Cirr... OMIM:613280
Congenital Disorder Of Glycosylation, Type In
Failure to thrive, Ataxia, Hepatomegaly, Reduced visual acuity, Myoclonus, Spasticity, Seizure OMIM:612015
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Gastroesophageal reflux, Abnormal pyramidal sign, Parkinsonism, Rigidit... OMIM:613135
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness OMIM:302700
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Bilateral tonic-clonic seizure, Generalized-onset seizure, Seizure, Slowed slurred ... OMIM:619827
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Spinocerebellar Ataxia Type 7
Photophobia, Failure to thrive, Ataxia, Hemeralopia, Cerebral atrophy, Dysmetria, Macular degener... ORPHA:94147
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Abetalipoproteinemia
Ataxia, Hepatomegaly, Steatorrhea, Babinski sign, Fat malabsorption, Reticulocytosis, Scotoma, Im... ORPHA:14
Mulibrey Nanism
Cachexia ORPHA:2576
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Reduced visual acuity, Babinski sign, Chorea, Optic atrophy, Spasticity, Visual impairmen... OMIM:258501
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Mcdonough Syndrome
Protruding ear, Cachexia, Low-set, posteriorly rotated ears, Macrotia, Cryptorchidism ORPHA:2471
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile dysfunction, Orth... ORPHA:102
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Nyctalopia, Rod-cone dystrophy, Axonal degeneration, Impaired vibrati... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Optic atrophy, Tremor, Gait atax... OMIM:617810
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski ... ORPHA:466722
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Abnormal autonomic nervous system physiology, Intention tremor, Myoclonus, Abnormal... ORPHA:171695
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Spastic paraparesis, Rhegmatogenous retinal detachmen... ORPHA:40923
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... ORPHA:306669
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cerebral atrophy, Cachexia, Global brain atrophy, Low-set ears, Posteriorly rotated ears, Failure... OMIM:616801
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Brady... ORPHA:411602
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Cachexia, Optic atrophy, Hearing impairment, Failure to thrive in infancy ORPHA:702
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Cachexia, Decreased nerve conduction velocity ORPHA:1933
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Abnormal autonomic nervous ... ORPHA:778
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Reduced visual acuity, Babinski sign, ... ORPHA:101111
Sarcosinemia
Ataxia, Congenital blindness, Tetraparesis, Optic atrophy, Bilateral tonic-clonic seizure ORPHA:3129
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Maternal Uniparental Disomy Of Chromosome 4
Impaired proprioception, Visual field defect, Ataxia, Decreased body weight, Nyctalopia, Dysmetri... ORPHA:96180
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Decreased circulating cortisol level, Difficulty walking, Spastic tetr... ORPHA:139396
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Constriction of peripheral visual field, Abnormal macular morpho... ORPHA:414
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Ring Chromosome 10 Syndrome
Abnormal antihelix morphology, Large earlobe, Cachexia, Low-set ears, Aganglionic megacolon ORPHA:1438
Tay-Sachs Disease
Typical absence seizure, Gliosis, Inability to walk, Focal impaired awareness seizure, Optic atro... ORPHA:845
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Sandhoff Disease
Ataxia, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Macroglossia, ... OMIM:268800
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Wolman Disease
Splenomegaly, Steatorrhea, Cachexia, Esophageal varix, Anemia, Bone-marrow foam cells ORPHA:75233
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Lymphadeno... ORPHA:100025
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... ORPHA:2585
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Autonomic erectile dysfunction, Orth... ORPHA:98933
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Hepatomegaly, Jaundice, Cleft palate, Hypoplasia of the thymus, Pigmentary ret... OMIM:214110
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Generalized myoclonic seizure, Corpus callosum atrophy, Atrophy/Degene... ORPHA:77299
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Optic Atrophy 1
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Optic... OMIM:165500
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Infantile Neuroaxonal Dystrophy
Ataxia, Abnormal autonomic nervous system physiology, Cerebellar gliosis, Abnormal pyramidal sign... ORPHA:35069
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Blepharospasm, Bradykinesia, ... ORPHA:683
Optic Pathway Glioma
Visual field defect, Precocious puberty, Papilledema, Reduced visual acuity, Visual loss, Optic a... ORPHA:2086
Parkinson Disease 1, Autosomal Dominant
Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... OMIM:168601
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Hypermanganesemia With Dystonia 2
Clumsiness, Bradykinesia, Cerebral atrophy, Opisthotonus, Inability to walk, Tip-toe gait, Ankle ... OMIM:617013
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... OMIM:616394
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Blindness, Hepatomegaly, Splenomegaly, Facial palsy, Facial paralysis, Optic a... OMIM:259700
Cataract 11, Multiple Types
Hypertonia, Blindness, Chorea OMIM:610623
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... OMIM:613194
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Anemia, Cachexia, Mediastinal lymphadenopathy,... ORPHA:83469
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Type II diabetes mellitus, Lymphopenia, Gait disturbance, Tremor, Spas... ORPHA:100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Ataxia, Intestinal bleeding, Blindness, Retinal telangiectasia, Abnormal pyramidal si... OMIM:612199
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Primary Progressive Freezing Gait
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... ORPHA:75567
Neuroferritinopathy
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Difficulty walk... ORPHA:157846
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... OMIM:614180
Retinitis Pigmentosa 18
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... OMIM:601414
Reticular Dysgenesis
Failure to thrive, Malabsorption, Anemia, Leukopenia, Chronic otitis media, Abnormality of neutro... ORPHA:33355
Huntington Disease-Like 2
Weight loss, Cerebral cortical atrophy, Caudate atrophy ORPHA:98934
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Morm Syndrome
Truncal obesity, Retinal dystrophy, Retinal atrophy, Progressive night blindness, Visual impairment ORPHA:75858
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism OMIM:617384
Infantile Krabbe Disease
Failure to thrive, Gastroesophageal reflux, Decreased nerve conduction velocity, Cachexia, Optic ... ORPHA:206436
Tetrasomy 12P
Cachexia, Anal atresia, Hypohidrosis, Abnormal soft palate morphology ORPHA:884
Adrenoleukodystrophy
Paraparesis, Blindness, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Neur... OMIM:300100
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Dysm... ORPHA:96
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Gastroesophageal reflux, Clonus, Spasticity, Seizure, Blindness, Tetra... ORPHA:3137
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Failure to thrive, Abnormality of retinal pigmentation, Cholestatic liver disease, H... ORPHA:5
Parkinson Disease, Late-Onset
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Abnormal autonomic nervous... OMIM:168600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Spastic diplegia, Increased mean platelet volume, Pyloric stenosis, Paten... OMIM:300048
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Sensorineural hearing impairment, Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer ORPHA:3217
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Supranuclear Palsy, Progressive, 1
Photophobia, Senile plaques, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Cere... OMIM:601104
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Testicular atrophy, Bradykinesia... OMIM:157640
Usher Syndrome, Type Iv
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... OMIM:618144
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Hypogonadism, Obesity, Cryptorchidism OMIM:615982
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopath... ORPHA:100083
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... OMIM:175500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Gliosis, Gastroesophageal reflux, Cerebral atrophy, Cerebellar gliosis, Small for gestati... ORPHA:79243
Idiopathic Achalasia
Dysphagia, Weight loss, Gastroesophageal reflux ORPHA:930
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... OMIM:619977
Chromosome Xq21 Deletion Syndrome
Choroideremia, Nyctalopia, Constriction of peripheral visual field, Chorioretinal atrophy, Obesit... OMIM:303110
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Seizure, Chorioretinal coloboma OMIM:300864
Canavan Disease
Blindness, Brain atrophy, Opisthotonus, Abnormal pyramidal sign, Epileptic spasm, Optic atrophy, ... OMIM:271900
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... OMIM:300578
Hirschsprung Disease
Sensorineural hearing impairment, Failure to thrive in infancy, Intestinal obstruction, Intestina... ORPHA:388
Usher Syndrome Type 1
Ataxia, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Hemianopia, Visual loss, Subco... ORPHA:231169
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Ataxia, Tritanomaly, Red-green dyschromatopsia, Reduced visual acuity, Optic... OMIM:125250
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Supranuclear Palsy, Progressive, 2
Photophobia, Gait imbalance, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Akin... OMIM:609454
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:133780
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... OMIM:180104
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Hepatomegaly, Myoclonus, Pigmentary retinopathy, Type I diabetes melli... OMIM:560000
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Diffuse cerebellar atrophy, Bradykinesia, Cerebral cortical atrophy, Dysmetria, Abnormal ... ORPHA:93256
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia, Rod-cone dystrophy OMIM:276902
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Decreased intestinal transit time, Weight loss, Low-set ears OMIM:620045
Pulmonary Blastoma
Weight loss ORPHA:64741
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Failure to thrive, Hepatomegaly, Lymphopenia, Cleft palate, Splenomegaly, Cryptorchi... OMIM:612541
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Decreased body weight, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Cerebellar... OMIM:617672
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cer... OMIM:208920
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia OMIM:610356
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Loss of ambulation, Congenital blindness, Retinal detachment, Isosex... ORPHA:2788
Rett Syndrome
Cachexia, Cerebral cortical atrophy, Gastroesophageal reflux, EEG abnormality OMIM:312750
Sjogren-Larsson Syndrome
Photophobia, Macular degeneration, Spastic paraparesis, Color vision defect, Reduced visual acuit... OMIM:270200
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Gait disturbance, Cogwheel rigidity, Postural tremor, Visual ... ORPHA:306682
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Parkinsoni... ORPHA:140989
Majeed Syndrome
Failure to thrive, Malabsorption, Leukocytosis, Splenomegaly, Congenital hypoplastic anemia, Cach... ORPHA:77297
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... ORPHA:436274
Cinca Syndrome
Blindness, Hepatomegaly, Leukocytosis, Splenomegaly, Pseudopapilledema, Abnormal granulocyte morp... ORPHA:1451
Episodic Ataxia Type 6
Hemiplegia, Photophobia, Ataxia, Diplopia, Reduced visual acuity, Cerebellar atrophy, Seizure, Sl... ORPHA:209967
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:614186
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Reduced visual acuity, Babinski sign... OMIM:618438
Choreoacanthocytosis
Hepatomegaly, Frontal cortical atrophy, Chorea, Falls, Weight loss, Slurred speech, Hypertonia, L... ORPHA:2388
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Refsum Disease
Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Nyctalopia, Splenomegaly, Re... ORPHA:773
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Jalili Syndrome
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy OMIM:217080
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... OMIM:613801
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Cog8-Cdg
Failure to thrive, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Protein-losin... ORPHA:95428
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:601813
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Weight loss, Cleft palate ORPHA:141152
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... OMIM:614487
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Autoimmune hemo... OMIM:614162
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait, Seizure OMIM:311510
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Decreased hemoglobin concentration, Retinal dystrophy, Hemolytic anemia, Tremor, Reticulo... ORPHA:713
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Cerebral visual impairment, Gastroesophage... ORPHA:2524
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia OMIM:130600
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... OMIM:303700
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Hypoplasia of the thymus, Abnormal retinal morphology, Aplasia/... ORPHA:40366
Isaacs Syndrome
Weight loss, EEG abnormality, Hyperhidrosis ORPHA:84142
Retinitis Pigmentosa 28
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... OMIM:606068
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal in... ORPHA:436182
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Chorea, Hemolytic anemia, Ileal ulcer, Thrombocytopenia OMIM:616744
Syndromic Diarrhea
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Small for gestational age, Cirr... ORPHA:84064
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... OMIM:616289
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Central adrenal insufficiency, Bitemporal hemianopia, Hypogonadi... ORPHA:91349
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... OMIM:259710
Chediak-Higashi Syndrome
Ataxia, Hepatomegaly, Hemophagocytosis, Tremor, Jaundice, Lymphadenopathy, Decreased nerve conduc... OMIM:214500
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Retinitis Pigmentosa 92
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... OMIM:619614
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Hypertonia, Ataxia, Failure to thrive, Blindness, Optic atrophy, Diffuse cerebral atrophy, Centra... ORPHA:543470
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Leber Congenital Amaurosis 15
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... OMIM:613843
Joubert Syndrome With Oculorenal Defect
Ataxia, Blindness, Abnormality of the hypothalamus-pituitary axis, Retinal dystrophy, Seizure, Vi... ORPHA:2318
Tritanopia
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Gastrointestinal Defects And Immunodeficiency Syndrome 2