Gene Summary

Name:
cathepsin D
Synonyms:
CD,  CatD

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased hematocrit Ctsdtm1b(EUCOMM)Wtsi HET Early adult 6.65×10-05
increased circulating aspartate transaminase level Ctsdtm1b(EUCOMM)Wtsi HET Early adult 4.48×10-11

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... 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
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... OMIM:204200
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central ne... OMIM:607136
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Failure to thrive, Splenomegaly, Seizure, Ataxia, Bl... ORPHA:796
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Myopia, Caudate atrophy, Bradykinesia, Tremor, Seizure, ... OMIM:617435
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Cerebellar atrophy, Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting... ORPHA:71517
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, ... OMIM:261640
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Fa... OMIM:300423
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Gait disturbance, Dysphagia, Parkinsonism, Optic atrophy, Rigidity, Frequent falls, C... ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Visual loss, Ataxia, Blindness, Retinopathy... OMIM:610951
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Hy... ORPHA:248111
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption, Hearing impair... OMIM:613662
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Dysphagia, Cerebellar atrophy, Paresthesia, Shuffling gait, Bradykinesia, Cogwheel... ORPHA:254886
Huntington Disease
Clumsiness, Gait imbalance, Decreased body mass index, Choking episodes, Seizure, Cerebral atroph... ORPHA:399
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Seizure, Visual loss, Progressive visual field defects, Cerebral atrophy, Dysmetria, ... ORPHA:79263
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Seizure, At... OMIM:551500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Dystonia 16
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... ORPHA:210571
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Severe Canavan Disease
Babinski sign, Optic atrophy, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Inab... ORPHA:314911
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Seizure, Spast... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Seizure, Blindness, Spasticity, Severely reduced visual acuity OMIM:309555
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive ... OMIM:256730
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Spastic hemiparesis, Seizure, Abnormal pyramidal sign, Progress... ORPHA:282166
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Dystonia, Cleft palate, Failure to thrive, Bradykinesia, Macrovesicular hepatic ste... OMIM:614924
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Optic atrophy, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Seizure, Cerebral at... ORPHA:329284
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Seizure, Hypertonia, Generalized dystonia, Parkinsonism, L... OMIM:618824
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Optic atrophy, Cerebellar... ORPHA:98755
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... OMIM:617836
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... OMIM:600116
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Rod-con... OMIM:183090
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... ORPHA:13
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Dysphagia, Impaired distal proprioception, Rigidity, Steppage gait, Facial palsy, ... OMIM:258450
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypotension, Myoc... ORPHA:97355
Diencephalic Syndrome
Optic atrophy, Cachexia, Macrotia, Hyperhidrosis, Decreased body weight ORPHA:1672
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Cerebellar atrophy, Oromandibular dystonia, Bradykines... OMIM:617013
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Dysphagia, Cachexia, Peripheral axonal neuropathy, Dec... ORPHA:298
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Optic atrophy, Dysmetria, Progressive visual loss, Hemiparesis, Visual loss, Incoordina... OMIM:601338
Kufor-Rakeb Syndrome
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... OMIM:606693
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... ORPHA:391411
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Resting tremor, Shor... ORPHA:306692
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Seizure, Blindness, Spasticity, Cerebral atrophy OMIM:617899
Narp Syndrome
Babinski sign, Retinal arteriolar tortuosity, Optic disc pallor, Myoclonic spasms, Corticospinal ... ORPHA:644
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... ORPHA:85128
Riboflavin Transporter Deficiency
Progressive hearing impairment, Dysphagia, Optic disc pallor, Cachexia, Abnormal cranial nerve mo... ORPHA:97229
Machado-Joseph Disease
Dystonia, Dysphagia, Babinski sign, Cerebellar atrophy, Rigidity, Gliosis, Abnormality of extrapy... OMIM:109150
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... ORPHA:70482
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, High palate, Macroorchidism, Choreoathetosis, Obesity, Spastic gait, Shu... OMIM:300055
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Onion bulb formation, Dysphagia, Cerebellar atrophy, P... OMIM:302800
X-Linked Neurodegenerative Syndrome, Hamel Type
Seizure, Blindness, Spasticity ORPHA:85336
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Dysphagia, Leber optic atrophy, Optic atrophy, Bradykinesia, Visual loss, Sp... OMIM:500001
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... ORPHA:53351
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Optic atrophy, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal... OMIM:619052
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Febrile seizure (within the age range of 3 months to 6 years), Visual loss, Seizure, ... ORPHA:206443
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Optic disc pallor, Opisthotonus, Pigmentary retinopathy, Frequent fa... ORPHA:216866
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... OMIM:614436
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Pigmentary retinopathy, Dysphagia, Optic disc pallor, Myoclonic spasms, Cerebellar at... ORPHA:79264
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... OMIM:616170
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... OMIM:612953
Spinocerebellar Ataxia Type 13
Clumsiness, Optic atrophy, Dysphagia, Optic disc pallor, Cerebellar atrophy, Torticollis, Myoclon... ORPHA:98768
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Sp... OMIM:615643
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Dystonia 16
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... OMIM:612067
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... ORPHA:100984
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spasticity, Babinski sign, Cleft palate, Hyporeflective spaces on macular OCT, Retina... ORPHA:506353
Moynahan Syndrome
Sensorineural hearing impairment, Cachexia, Microcephaly ORPHA:2574
Christianson Syndrome
Dysphagia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Aplas... ORPHA:85278
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis OMIM:609161
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Gait disturbance, Poor coordination, Failure to thrive, Megaloblastic anemia, Seizure, Blindness,... OMIM:250940
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Neurodegen... OMIM:606159
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Cleft palate, Axonal degeneration, Brachial plexus neuropathy, Lo... OMIM:162100
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Cachexia ORPHA:1144
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... OMIM:616152
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... ORPHA:90050
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Optic atrophy, Rigidity, Frequent falls, Ha... ORPHA:289560
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Krabbe Disease
Progressive spasticity, Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve cond... OMIM:245200
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Failure to thrive, Megaloblastic anemia, Seizure, Blindness, Cerebral atrophy, ... OMIM:236270
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity, Reduced visual acuity, Tremor, Ataxia, Seizure, Incoordination, Unsteady ... OMIM:614947
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Large for gestational age, Hearing im... OMIM:600501
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... OMIM:608051
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Short stepped shuffling gait, Di... ORPHA:412066
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Bradykinesia, Apraxia... OMIM:221820
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Failure to thrive, Axonal degeneration... OMIM:604320
Late Infantile Neuronal Ceroid Lipofuscinosis
Stereotypy, Seizure, Visual loss, Corpus callosum atrophy, Cerebral atrophy, Focal-onset seizure,... ORPHA:168491
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, High palate, Cerebellar atrophy, Facial diplegia, Hearing impairment, Low-set ears, Hyp... OMIM:618186
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... OMIM:613750
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Protein-losing enteropathy, Bradykinesia OMIM:619063
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Gait disturbance, Dysphagia, Blindness, Chorea OMIM:607674
Cach Syndrome
Optic atrophy, Dysphagia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brain... ORPHA:135
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Migraine, Familial Hemiplegic, 3
Hemiparesis, Seizure, Blindness, Hemiplegia, Photophobia OMIM:609634
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, Abnormal lower motor neuron morph... ORPHA:93941
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:227510
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormality of extrapyramidal motor func... OMIM:165300
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction velocity, Ataxia, Spasticity OMIM:183050
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Babinski sign, Optic atrophy, Cerebellar atrophy, Dysmetria, Chorea, Neurode... OMIM:610217
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Seizure, Atypical abs... ORPHA:225147
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Photophobia, Falls, Bradykinesia, Tremor,... ORPHA:240071
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, High palate, Peripheral axonal neuropathy, Absent brainstem auditory responses, Facial... OMIM:617519
Pantothenate Kinase-Associated Neurodegeneration
Retinal flecks, Rod-cone dystrophy, Seizure, Peripheral visual field loss, Gait disturbance, Chor... ORPHA:157850
Xylosidase Deficiency
Seizure, Blindness, Choreoathetosis OMIM:278900
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Retinitis Pigmentosa 80
Progressive visual loss, Macular atrophy, Blindness OMIM:617781
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrh... ORPHA:79301
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Hsd10 Disease, Infantile Type
Dystonia, Dysphagia, Optic atrophy, Retinal degeneration, Poor coordination, Gastrointestinal dys... ORPHA:391428
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Bradykinesia, Tre... ORPHA:70594
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Reduced visual acuity, Blindness OMIM:601553
Retinitis Pigmentosa 89
Esophageal varix, Hepatic fibrosis, Micronodular cirrhosis, Rod-cone dystrophy, Constriction of p... OMIM:618955
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Optic atrophy, Gliosis, Seizure, Blindness, Spasticity, Premature ovarian insuf... OMIM:603896
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Global brain atrophy, Abnormal pyramidal sign, Gait disturbance, Eyelid ap... OMIM:234200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Seizure, H... OMIM:618877
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Brain atrophy, Parkin... ORPHA:306669
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Microcytic anemia, Axonal degeneration OMIM:618811
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory n... OMIM:609033
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Myoclonic seizure, Central scotoma, Reduced visual acuity, Ataxia, Color visio... OMIM:616732
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Neuroferritinopathy
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... ORPHA:157846
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Abnormal auditory evoked poten... OMIM:601382
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypointensity of cerebral white matter on MRI, Gastrointestinal dysmotility, Weight los... OMIM:603041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology OMIM:618138
Childhood-Onset Nemaline Myopathy
Clumsiness, High palate, Facial diplegia, Slender build, Bradykinesia, Waddling gait, Neuromuscul... ORPHA:171439
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... OMIM:604168
Spinocerebellar Ataxia 48
Dysphagia, Cerebellar atrophy, Cachexia OMIM:618093
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Seizu... OMIM:598500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix, Prolonged prothrombin time, Splenomegaly, Portal hypertension, Jaundice, Gait d... ORPHA:309854
Immunodeficiency 40
Lymphopenia OMIM:616433
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Retinal Capillary Malformation
Myopia, Central fundal arteriolar microaneurysms, Subretinal exudate, Retinal capillary hemangiom... ORPHA:71213
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Leber Congenital Amaurosis 1
Hepatomegaly, Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophob... OMIM:204000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Blindness, Congenital stationary night blindness OMIM:616389
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... OMIM:604393
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... ORPHA:363654
Leber Congenital Amaurosis 2
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia, Eye poking OMIM:204100
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Microphthalmia, Isolated 5
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... OMIM:611040
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Renpenning Syndrome
High, narrow palate, Round ear, Cleft palate, Cachexia, Macrotia, Anal atresia, Sensorineural hea... ORPHA:3242
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Cronkhite-Canada Syndrome
Cachexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption, Spl... ORPHA:2930
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Choroidal neovascularization, Retinal pigment... ORPHA:97341
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tre... OMIM:300623
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Hypo... OMIM:300400
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Optic atrophy, Reduced visual acuity, Bilateral tonic-clonic seizure with generali... OMIM:618770
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Morm Syndrome
Retinal dystrophy, Truncal obesity, Hyperactivity, Progressive night blindness, Visual impairment... ORPHA:75858
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... OMIM:169150
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Reduced visual acuity, Falls, Rod-cone dystrophy, Congenita... OMIM:613341
Xfe Progeroid Syndrome
Optic atrophy, Cachexia, Microcephaly, Hearing impairment OMIM:610965
Spastic Paraplegia 55, Autosomal Recessive
Babinski sign, Clonus, Optic atrophy, Steppage gait, Central scotoma, Reduced visual acuity, Visu... OMIM:615035
Gm1 Gangliosidosis
Retinopathy of prematurity, Patent ductus arteriosus, Splenomegaly, Seizure, Hepatosplenomegaly, ... ORPHA:354
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Cerebral calcifi... ORPHA:1933
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Paresthesia... ORPHA:97349
Spastic Paraplegia 81, Autosomal Recessive
Babinski sign, Optic atrophy, Cleft palate, Upper limb spasticity, Reduced visual acuity, Bifid u... OMIM:618768
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Reduced visual acuity, Visual impairment, Truncal obesity, Childhood-onset tru... OMIM:610156
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Seizure, Hypertonia, Blindness, Gastroesophag... ORPHA:141
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Rigidity, Polycythemia, Steppage gait, Abnormality of extrapyramidal moto... OMIM:613280
Flynn-Aird Syndrome
Cachexia, Progressive sensorineural hearing impairment, EEG abnormality, Cerebral calcification, ... ORPHA:2047
Bardet-Biedl Syndrome 21
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... OMIM:617406
Spinocerebellar Ataxia Type 8
Dystonia, Dysphagia, Cerebellar atrophy, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Cere... ORPHA:98760
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Alg6-Cdg
Retinal degeneration, Macroglossia, Failure to thrive, Rod-cone dystrophy, Abnormality of the liv... ORPHA:79320
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Reduced visual acuity, Sp... OMIM:270500
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... ORPHA:171695
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Frequent fal... ORPHA:411602
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central scotoma, Reduced visual acuity, Retinal nerve fiber edema, Retinal telangiectasia, Centra... OMIM:619382
Multiple System Atrophy
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:102
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Failure to thrive,... OMIM:612541
Early-Onset X-Linked Optic Atrophy
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Progressive visual loss, Centra... ORPHA:98890
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypogonadism, Abno... ORPHA:791
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Stargardt Disease
Aplasia/Hypoplasia of the macula, Central scotoma, Retinal pigment epithelial mottling, Reduced v... ORPHA:827
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Ch... OMIM:607921
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, High palate, Difficulty walking, Bradykinesia ORPHA:171442
Cohen Syndrome
High, narrow palate, Optic atrophy, Chorioretinal dystrophy, Neutropenia, Myopia, Leukopenia, Sma... OMIM:216550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Limb apraxia, Bradykinesia, Stereotypy, Seizure, I... ORPHA:778
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Tongue thrusting, Multifocal seizures, Cerebellar v... ORPHA:77299
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Frequ... ORPHA:99947
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Seizure, Gait disturbance, Dysmetria, Reduced visual acuity, Ankle clonus, ... ORPHA:139396
Tay-Sachs Disease
Clumsiness, Global brain atrophy, Focal impaired awareness seizure, Fasciculations, Seizure, Inco... ORPHA:845
Infantile Refsum Disease
Hepatomegaly, Optic atrophy, Failure to thrive, Facial palsy, Rod-cone dystrophy, Seizure, Ataxia... ORPHA:772
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Frequent falls, Weight loss, Reduced visual acuity, Loss of ability to walk, Spast... ORPHA:3208
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Aprax... OMIM:137440
Nephronophthisis 15
Seizure, Obesity, Blindness, Retinal degeneration OMIM:614845
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Seizure, Diabetes mellitus, Lethargy, Gait disturbance, Bradykinesia, Hypertonia, Hyperth... ORPHA:254892
Huntington Disease-Like 2
Abnormal corpus striatum morphology, Caudate atrophy, Weight loss, Abnormal cerebral morphology, ... ORPHA:98934
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... OMIM:153840
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, O... ORPHA:35069
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness OMIM:302700
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Rigidity, Neuronal loss in central nervous system, Gliosis, Falls, Bradykine... ORPHA:683
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Global brain atrophy, Posteriorly rotated ears, Cerebral ... OMIM:616801
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Hypermetropia, Reduced visual acuity, Color vision d... ORPHA:215
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Babinski sign, Dysphagia, Cerebellar atrophy, Dysmetria, Failure to t... ORPHA:94147
Abetalipoproteinemia
Impaired proprioception, Progressive visual loss, Prolonged prothrombin time, Rod-cone dystrophy,... ORPHA:14
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Retinoschisis Of Fovea
Foveoschisis, Hypermetropia, Macular dystrophy, Mildly reduced visual acuity, Rod-cone dystrophy,... OMIM:268080
Mulibrey Nanism
Cachexia ORPHA:2576
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Failure to thrive, Myoclonus, Reduced visual acuity, Seizure, Ataxia, Spasticity OMIM:612015
Mcdonough Syndrome
Cachexia, Macrotia, Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear ORPHA:2471
Retinitis Pigmentosa 4
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia OMIM:613731
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:98933
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Cachexia, Hearing impairment, Cerebral cortical atro... ORPHA:702
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Gliosis... OMIM:168601
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Ataxia-Telangiectasia
Dystonia, Choreoathetosis, Leukemia, Hypoplasia of the thymus, Myoclonus, Tremor, Ataxia, Seizure... OMIM:208900
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Myopia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic s... OMIM:617810
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Chromosome Xp11.3 Deletion Syndrome
Nyctalopia, Blindness, Visual impairment, Rod-cone dystrophy OMIM:300578
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Bilateral tonic-clonic seizure, Cerebellar gliosis, Infantile spasms, Small for gestati... ORPHA:79243
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Optic atrophy, Chorea, Abnormality of extrapyramidal motor function, Reduced visua... OMIM:258501
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... ORPHA:100025
Cone-Rod Dystrophy 12
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... OMIM:612657
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Gastrointestinal dysmotility, Bone spicule pigmentatio... ORPHA:88628
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal impaired awareness seizure, Stereotypy, Seizure, Cerebral atrophy, Oral-pharyngeal dysphagi... ORPHA:178469
Retinitis Pigmentosa 35
Blindness, Cone/cone-rod dystrophy, Nyctalopia, Rod-cone dystrophy OMIM:610282
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Ring Chromosome 10 Syndrome
Large earlobe, Cachexia, Aganglionic megacolon, Abnormal antihelix morphology, Low-set ears ORPHA:1438
Gyrate Atrophy Of Choroid And Retina
Myopia, Progressive visual loss, Chorioretinal degeneration, Seizure, Constriction of peripheral ... ORPHA:414
Maternal Uniparental Disomy Of Chromosome 4
Impaired proprioception, Optic atrophy, Diabetes insipidus, Acanthocytosis, Dysmetria, Spastic ga... ORPHA:96180
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... ORPHA:101111
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Cleft palate, Failure to thrive, Hypoplasia of the thymus, Intrahepatic biliary dys... OMIM:214110
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Gastrointestinal dysmotility, Global brain atrophy, Diffuse cerebellar atrophy,... ORPHA:478029
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Retinitis Pigmentosa 78
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... OMIM:617433
Sarcosinemia
Optic atrophy, Bilateral tonic-clonic seizure, Ataxia, Congenital blindness, Tetraparesis ORPHA:3129
Sandhoff Disease
Hepatomegaly, Impaired temperature sensation, Cherry red spot of the macula, Bilateral tonic-clon... OMIM:268800
Parkinson Disease, Late-Onset
Dystonia, Dysphagia, Rigidity, Neuronal loss in central nervous system, Bradykinesia, Tremor, Res... OMIM:168600
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... ORPHA:199351
Retinal Cone Dystrophy 3A
Photophobia, Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Cone/cone-rod dystrophy, Nyc... OMIM:610024
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Ataxia-Pancytopenia Syndrome
Gait disturbance, Hypoplastic anemia, Cerebellar atrophy, Abnormal platelet function, Acute myelo... ORPHA:2585
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor, Reduced visual acuity, Visual field defect, Cerebral visual imp... OMIM:615722
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Leukodystrophy, Hypomyelinating, 15
Athetosis, Dystonia, Dysphagia, Optic atrophy, Cerebellar atrophy, Hypermetropia, Progressive vis... OMIM:617951
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Optic Atrophy 1
Optic atrophy, Central scotoma, Reduced visual acuity, Centrocecal scotoma, Ataxia, Red-green dys... OMIM:165500
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Fundus atrophy, Attenuat... OMIM:613428
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Neurodegeneration, Primary adrenal insufficiency, Parapar... OMIM:300100
Optic Pathway Glioma
Optic atrophy, Visual field defect, Reduced visual acuity, Seizure, Papilledema, Visual loss, Bli... ORPHA:2086
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Visual impairment, Tr... ORPHA:96
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Neuronal loss in central ner... OMIM:601104
Wolman Disease
Cachexia, Esophageal varix, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea ORPHA:75233
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Reduced visual acuity, Ataxia, Abolis... OMIM:608703
Ataxia-Telangiectasia
Gait disturbance, Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Tremor, Ataxi... ORPHA:100
Retinitis Pigmentosa 20
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... OMIM:613794
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Hemiparesis, Autoimmune thrombocytopenia, Lymphopenia, ... ORPHA:444463
Retinitis Pigmentosa 47
Rod-cone dystrophy, Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment OMIM:607476
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Optic atrophy, Failure to thrive, Anemia, Facial palsy, Splenomegaly, Seizure, Faci... OMIM:259700
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... ORPHA:75567
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Intestinal atresia, Hemato... OMIM:243150
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... ORPHA:180
Cataract 11, Multiple Types
Chorea, Hypertonia, Blindness OMIM:610623
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, N... OMIM:616394
Bilateral Generalized Polymicrogyria
Stereotypy, Focal-onset seizure, Oral-pharyngeal dysphagia, Oculogyric crisis, Generalized tonic ... ORPHA:208447
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anemia, Ne... ORPHA:83469
Supranuclear Palsy, Progressive, 2
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Neuronal lo... OMIM:609454
Infantile Krabbe Disease
Optic atrophy, Cachexia, Hypointensity of cerebral white matter on MRI, Failure to thrive, Decrea... ORPHA:206436
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Splenomegaly, Seizure, Frontal cortical atrophy, Abnormal er... ORPHA:2388
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysp... ORPHA:100083
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... OMIM:608133
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Attenuation of re... OMIM:614180
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Retinitis Pigmentosa 18
Rod-cone dystrophy, Scotoma, Retinal arteriolar constriction, Progressive visual field defects, N... OMIM:601414
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Anemia, Malabsorption, Hearing ... ORPHA:33355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Dysphagia, Impaired distal proprioception, Rigidity, Facial palsy, Bradykines... OMIM:157640
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Choroideremia
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... OMIM:303100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Autosomal Dominant Optic Atrophy, Classic Form
Morning glory anomaly, Moderately reduced visual acuity, Atrophy/Degeneration affecting the brain... ORPHA:98673
Alpha-N-Acetylgalactosaminidase Deficiency
Clonus, Tetraplegia, Seizure, Blindness, Spasticity, Gastroesophageal reflux, Cerebral cortical a... ORPHA:3137
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Optic atrophy, Anemia, Bone marrow hypocellularity, Abnormal pyramidal sign, Abnormalit... OMIM:612199
Manganese Poisoning
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Tetrasomy 12P
Cachexia, Abnormal soft palate morphology, Hypohidrosis, Anal atresia ORPHA:884
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dysphagia, Cerebellar atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, Cerebral... OMIM:617672
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Fleck Retina Of Kandori
Nyctalopia, Blindness, Retinal flecks OMIM:228990
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Steatorrhea ORPHA:3217
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Myopia, Failure to thrive, Cholestatic liver d... ORPHA:5
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cryptorchidism, Nyctalopia OMIM:615982
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Color vision defect, Photophobia, Ny... OMIM:600852
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Diffuse cerebellar atrophy, Bradykinesia, Inten... ORPHA:93256
Osteoporosis-Pseudoglioma Syndrome
Severely reduced visual acuity, Exudative vitreoretinopathy, Moderately reduced visual acuity, Lo... ORPHA:2788
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Axonal degeneration, Decreased number of larg... OMIM:208920
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Pulmonary Blastoma
Weight loss ORPHA:64741
Usher Syndrome Type 1
High hypermetropia, Subcortical cerebral atrophy, Scotoma, Visual loss, Ataxia, Hemianopia, Nycta... ORPHA:231169
Idiopathic Achalasia
Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:930
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Visual impairment, Color vision defect, Photophobia, Nyctalopia ORPHA:1872
Retinitis Pigmentosa 63
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:614494
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Hamartomatous... OMIM:175500
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... OMIM:614487
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Hirschsprung Disease
Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality of the gastrointestin... ORPHA:388
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Photosensitive myoclonic seizure, Cerebellar atrophy, Limb myoclonus, Febrile seiz... ORPHA:263516
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Dysphagia, Optic disc pallor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Fre... ORPHA:1947
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Chromosome Xq21 Deletion Syndrome
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... OMIM:303110
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Failure to thrive, Myoclonus, Ataxia, Blindness, Diabetes mellitus, Type I diabetes... OMIM:560000
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Usher Syndrome, Type Iiia
Reduced visual acuity, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:276902
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Central scotoma, Reduced vi... OMIM:125250
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia OMIM:616079
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... OMIM:300476
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... OMIM:180104
Rett Syndrome
Cachexia, EEG abnormality, Secondary microcephaly, Gastroesophageal reflux, Cerebral cortical atr... OMIM:312750
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, F... OMIM:617514
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Anemia, Pseudopapilledem... ORPHA:1451
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:614181
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Dysphagia, Cerebellar atrophy, Progressive extrapyramidal movement disorder, Bilat... ORPHA:329308
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Primary Angiitis Of The Central Nervous System
Paralysis, Abnormal visual field test, Reduced visual acuity, Hemiparesis, Paraparesis, Ataxia, S... ORPHA:140989
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Episodic Ataxia Type 6
Cerebellar atrophy, Reduced visual acuity, Seizure, Ataxia, Slurred speech, Hemiplegia, Photophob... ORPHA:209967
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Parkinsonism OMIM:311510
Majeed Syndrome
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Weight loss, Congenital... ORPHA:77297
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Babinski sign, Infantile spasms, Choreoathetosis, Reduced visual acuity, Upp... ORPHA:2524
Retinitis Pigmentosa 2
Myopia, Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, ... OMIM:312600
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Toni... OMIM:618917
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal fundus morphology, Abnormality of the optic nerve, Rod-cone dystrophy, Attenuation of re... ORPHA:436274
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Retinal Aplasia
Congenital blindness OMIM:179900
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... OMIM:601813
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Chorea, Lymphopenia, Ileal ulcer, Thrombocytopenia, Hemolytic anemia OMIM:616744
Retinal Cone Dystrophy 3B
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:610356
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Decreased hemoglobin concentration, Tremor, Ataxia, Blindness, Reticulocytosis... ORPHA:713
Leber Congenital Amaurosis 16
Optic disc pallor, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Refsum Disease
Abnormality of retinal pigmentation, Progressive visual loss, Splenomegaly, Abnormality of vision... ORPHA:773
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dysphagia, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global... ORPHA:52368
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy OMIM:618345
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diabetes mellitus, Hypothyroidism, D... OMIM:614162
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Cleft palate, Microglossia ORPHA:141152
Jalili Syndrome
Monochromacy, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:217080
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... OMIM:618826
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Atrophy/Degeneration affecting the brainstem, Prolonged pr... ORPHA:95428
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Myopia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Visual impa... ORPHA:529665
Blue Cone Monochromacy
Myopia, Blue cone monochromacy, Reduced visual acuity, Abnormality of macular pigmentation, Photo... OMIM:303700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Cerebellar atrophy, Reduced visual acuity, Splenomegaly OMIM:618541
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Cavitary Optic Disc Anomalies
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect OMIM:611543
Chediak-Higashi Syndrome
Neutropenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules... OMIM:214500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Chorea, Neurodegeneration, Exaggerated startle response, Spastic tetraparesi... OMIM:272750
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Retinal detachment, Congenital blindness,... ORPHA:436182
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... OMIM:616289
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Norrie Disease
Optic atrophy, Retinal fold, Retinal dysplasia, Seizure, Retinal detachment, Blindness OMIM:310600
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Acitretin/Etretinate Embryopathy
High palate, Hypoplasia of the thymus, Aplasia/Hypoplasia of the optic nerve, Median cleft palate... ORPHA:40366
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment OMIM:613093
Isaac Syndrome
Weight loss, EEG abnormality, Hyperhidrosis ORPHA:84142
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial nerve compression, Anemia, Hepatosplenomegaly, Facial paralysis, Blindness... OMIM:259710
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, M... OMIM:616811
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... ORPHA:313772
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... OMIM:133780
Tritanopia
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Photophobia, T... ORPHA:88629
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Optic atrophy, Cerebellar atrophy, Failure to thrive, Central scotoma, Seizure, Ataxia, Hypertoni... ORPHA:543470