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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
corneal opacity Ctsdtm1b(EUCOMM)Wtsi HET Early adult 7.35×10-05

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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 predicted to be associated to Ctsd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Dermoids Of Cornea
Corneal opacity OMIM:304730
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Seizure, Cerebral atrophy, Increased neuronal autofluorescen... OMIM:204200
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... OMIM:607136
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... OMIM:221820
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Spasticity, Macular degeneration, Seizure, Cerebral atrophy, Increased neuronal au... OMIM:256730
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Bradykinesia, Cerebral atrophy, Bruxism, Cerebellar verm... OMIM:617435
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight l... ORPHA:399
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Sandhoff Disease
Failure to thrive, Seizure, Cherry red spot of the macula, Blindness, Splenomegaly, Ataxia, Hepat... ORPHA:796
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Seizure, Episodic ataxia, Incoordination, Blindness, Gait ataxia, Visual loss, Dys... OMIM:601338
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B... OMIM:610951
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Spasticity, Optic atrophy, Violent behavior, Chorea, Blindness, Retinopathy, Trem... ORPHA:216873
Dravet Syndrome
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... ORPHA:33069
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Sorsby Pseudoinflammatory Fundus Dystrophy
Pigmentary retinopathy, Choroidal neovascularization, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait... ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... OMIM:601596
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Cerebellar atrophy, Dyschromatopsia, Cerebral atrophy, Paresthesia... ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfuncti... OMIM:619862
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Ataxia, Unsteady gait, Dysphagia, Poor fine motor coordination, Cerebral atrophy, Gen... ORPHA:79263
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Leber optic atrophy, Visual loss, Upper motor neuron dysfunction, Brad... OMIM:500001
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Seizure, Blindness, Retinopathy, Rod-cone dystrophy, Ataxia,... OMIM:551500
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Dyschromatopsia, Retinal pigment epithelial mottling, Hypopigment... ORPHA:75377
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Spasticity, Seizure, Blindness, Severely reduced visual acuity OMIM:309555
Severe Canavan Disease
Optic atrophy, Spasticity, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Seizure, Inability... ORPHA:314911
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidi... ORPHA:329284
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Dys... OMIM:618317
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo... ORPHA:98762
Dystonia 16
Bradykinesia, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait,... ORPHA:210571
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... ORPHA:157941
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Seizure, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, ... OMIM:261640
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis ORPHA:228169
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Gait di... OMIM:213600
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... ORPHA:282166
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Gastroesophageal reflux, Seizure, Inability to walk, Myoclonus, Hig... OMIM:617854
Behr Syndrome
Optic atrophy, Visual impairment, Hypoplastic optic chiasm, Cerebellar atrophy, Cerebellar vermis... OMIM:210000
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Spinocerebellar Ataxia 10
Cerebellar atrophy, Seizure, Incoordination, Decreased nerve conduction velocity, Limb fasciculat... OMIM:603516
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Seizure, Retinal arteriolar tortu... ORPHA:644
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased motor nerve conduction v... OMIM:214400
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Pigmentary retinopathy, Macular degenerat... ORPHA:85128
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Abnormal retinal morphology, Ataxia, Truncal a... OMIM:601238
Diencephalic Syndrome
Optic atrophy, Decreased body weight, Cachexia, Hyperhidrosis, Macrotia ORPHA:1672
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Severe temper tantrum... OMIM:619052
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Hearing impairment, Slender build, Cachexia, Weight loss, Gastroin... OMIM:613662
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Male hypogonadism, Resting tremor, Seizu... OMIM:300055
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Retinal pigment epithelial mottling, Progressive spastic paraplegia, Progressive spa... ORPHA:506353
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... OMIM:128230
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Blin... OMIM:613750
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of... ORPHA:13
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dysphagia OMIM:128235
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Gait distu... ORPHA:314632
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Parkinson... OMIM:615528
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Blindness, Tractional retinal detachm... ORPHA:90050
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Progressive hearing impairment, Abnormal cranial nerve morphology, Cac... ORPHA:97229
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
X-Linked Neurodegenerative Syndrome, Hamel Type
Spasticity, Blindness, Seizure ORPHA:85336
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Caribbean Parkinsonism
Cerebral cortical atrophy, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Pro... ORPHA:97355
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Retinitis Pigmentosa 73
Color vision defect, Geographic atrophy, Constriction of peripheral visual field, Epiretinal memb... OMIM:616544
Galactosialidosis
Corneal opacity ORPHA:351
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Frontotemporal cerebral atrophy, Falls, Inappropria... ORPHA:412066
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Seizure, Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Juvenile Neuronal Ceroid Lipofuscinosis
Large central visual field defect, Poor motor coordination, Pigmentary retinopathy, Cerebellar at... ORPHA:79264
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Cerebellar atro... ORPHA:98755
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axonal de... OMIM:606482
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Diplopia, Cerebellar atrophy, Facial-lingual fasciculat... OMIM:109150
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Gait disturbance, Motor tics, Com... OMIM:615643
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Obsessive-compulsive trait, Reduced visual acuity, Ataxia, Motor stereotypy, Cerebral... ORPHA:168491
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... OMIM:614436
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Retinitis Pigmentosa 59
Spasticity, Failure to thrive, Seizure, Constriction of peripheral visual field, Cryptorchidism, ... OMIM:613861
Spinocerebellar Ataxia Type 13
Optic atrophy, Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait atax... ORPHA:98768
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Leukodystrophy, Hypomyelinating, 14
Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Blindness OMIM:617899
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral mye... OMIM:302800
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Pigmentary retinopathy, Tip-toe gait, Seizure, Inability to walk, Blindness, Opisthot... ORPHA:216866
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Decreased motor nerve conduction velocity, Decreased number of large per... ORPHA:298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Diplopia, Cerebellar atrophy, Dyschromatopsia, Limb ataxia, Positive Romberg sign,... OMIM:258450
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Attention deficit hyperactivi... OMIM:619725
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Choroideremia
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Cons... OMIM:303100
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Blindness, Choriocapillaris atrophy, Subretinal deposits, Reduced visual ac... OMIM:601553
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Parkinsonism with favorable response to dopamin... ORPHA:240085
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Cerebral cortical atrophy, Failure to thrive, Seizure, Cerebral atrophy, Blind... OMIM:236270
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Sensorineural hearing impairment ORPHA:1144
Cach Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrop... ORPHA:135
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Redu... OMIM:169150
Retinitis Pigmentosa 4
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Visual field defect, Red... OMIM:613731
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Absent brainstem auditory responses, Prelingual sensorineural heari... OMIM:616515
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Narrow palate, Gastroesophageal reflux, Cerebellar atrophy, Decreased motor nerve c... OMIM:618186
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Amyotrophy, Hereditary Neuralgic
Low-set ears, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degeneration, Cl... OMIM:162100
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Abnormality of vision, Blindness, Myoclonus, Focal-onset seizure... ORPHA:726
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Protein-losing enteropathy OMIM:619063
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal de... OMIM:604320
Christianson Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Cerebellar atrophy, Cachexia, Neuronal loss i... ORPHA:85278
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... OMIM:619911
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Dysphagia, Blindness OMIM:607674
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Retinal thinning, Constriction of peripheral visual fie... OMIM:618955
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Gait disturbance, Lower limb spasticity, Bradykin... OMIM:618418
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Babinski s... ORPHA:289560
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal lower motor neuron morphology, Cachexia, Tracheoesophageal fi... ORPHA:93941
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Eye poking, Reduced visu... OMIM:204100
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Tremor, Abnormality of extrapyramidal motor function, Reduced visual acui... OMIM:165300
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neu... ORPHA:391428
Migraine, Familial Hemiplegic, 3
Seizure, Hemiplegia, Blindness, Hemiparesis, Photophobia OMIM:609634
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Resting tremor, Autonomic bladder dysfunction, Postura... ORPHA:227510
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Leukocytosis, ... OMIM:243150
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Akinesia, ... OMIM:300894
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Acanthocytosis, Loss of ambulation, Parkinsonism, Rod-cone dystrophy, Tics, Visual im... ORPHA:157850
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy, Chorioretinal atrophy OMIM:136900
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Moynahan Syndrome
Cachexia, Sensorineural hearing impairment ORPHA:2574
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Seizure, Hemiplegia, Chorea, Gait a... ORPHA:225147
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Spasticity, Cerebral atrophy, Babinski sign, Reduced visual acuity, Bilateral toni... OMIM:618770
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia OMIM:606438
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Retinal vascular tortuosity, Inability to walk, Ankle clonus, Babinsk... OMIM:618768
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Chor... OMIM:610217
Krabbe Disease
Optic atrophy, Progressive spasticity, Failure to thrive, Seizure, Neurodegeneration, Decreased n... OMIM:245200
Retinitis Pigmentosa 29
Rod-cone dystrophy, Blindness, Attenuation of retinal blood vessels OMIM:612165
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Blindness, Attenuation of retinal blood vessels, Eye poking, Reduced visu... OMIM:204000
Leber Congenital Amaurosis 9
Color vision defect, Optic atrophy, Retinal pigment epithelial mottling, Ultra-low vision, Ultra-... OMIM:608553
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Seizure, Blindness, Lethargy, Gait disturbance, Gliosis, Unsteady gait... OMIM:603896
Alexander Disease Type I
Dysphagia, Cachexia, Cerebellar atrophy, Failure to thrive ORPHA:363717
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Neurodegeneration, Acanthocytosis, Obsessive-compulsive trait, Parkinsonism, Abnormal... OMIM:234200
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Neurodegeneration, Chorea, Tremor, Rigidity, Disinhibition, Babinski s... OMIM:606159
Spinocerebellar Ataxia 48
Cachexia, Cerebellar atrophy, Dysphagia OMIM:618093
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Pigmentary retinopathy, Impaired vibration sensation in the lowe... OMIM:609033
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Focal hyperkinetic seizure, Generalized-onset seizure, Cerebellar vermis atrophy, Bli... ORPHA:77299
Infantile Dystonia-Parkinsonism
Gastroesophageal reflux, Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hype... ORPHA:238455
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Failure to thrive, Axonal degeneration OMIM:618811
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Sub-RPE de... OMIM:605670
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive... OMIM:137440
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cortical hemiatrophy, Bradykinesi... ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Seizure, Tremor, Rigidity, Limb hypertonia, Bradykinesia, Small for gestational age ORPHA:70594
Childhood-Onset Nemaline Myopathy
Neuromuscular dysphagia, Difficulty walking, Slender build, Facial diplegia, Clumsiness, High pal... ORPHA:171439
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Optic atrophy, Somatic sensory dysfunction, Hand tremor, Impaired p... ORPHA:99947
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus... ORPHA:363654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... OMIM:245900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Decreased testicular size, Periphera... OMIM:604168
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Failure to thrive, Seizure, Cerebral atrophy, Generalized-onset seizure, Blindness, L... OMIM:250940
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Blindness, Cone/cone-rod dystrophy, Reduced visual acuity, ... OMIM:604393
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Bone spicule pigmentation of the retina, Progres... OMIM:617781
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Myoclonic seizure, Blind-spot enlargment, Central scotoma, Reduced visual ac... OMIM:616732
Morm Syndrome
Progressive night blindness, Aggressive behavior, Retinal atrophy, Hyperactivity, Truncal obesity... ORPHA:75858
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Pigmentary retinopathy, Focal myoclonic seizure, Seizure, Blindn... ORPHA:3208
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Seizure, Sideroblastic anemia, Blindness, Megaloblastic anemia, Neutropenia, Throm... OMIM:598500
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Bone spicule pigmentation o... OMIM:607476
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Blindness, Epiretinal membrane... ORPHA:71213
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Dystonia 16
Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Gait ... OMIM:612067
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, ... OMIM:618877
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,... OMIM:600501
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Eso... ORPHA:309854
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Blindness, Myoclonus, Lethargy, Ataxia, Brain atrophy OMIM:618225
Canavan Disease
Optic atrophy, Gastroesophageal reflux, Seizure, Blindness, Abnormality of retinal pigmentation, ... ORPHA:141
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Winchester Syndrome
Corneal opacity OMIM:277950
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Bradykinesia, Lower limb spasticity OMIM:618878
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Axonal degeneration OMIM:616155
Bardet-Biedl Syndrome 21
Retinal thinning, Constriction of peripheral visual field, Blindness, Hyperautofluorescent macula... OMIM:617406
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Seizure, Cerebral atrophy, Myoclonus, Reduced visual acuity, Ataxi... OMIM:612015
Nephronophthisis 15
Obesity, Blindness, Seizure, Retinal degeneration OMIM:614845
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Diplopia, Resting tremor, Akinesia, Rigidity, Orthosta... ORPHA:411602
Stargardt Disease
Color vision defect, Macular degeneration, Abnormality of macular pigmentation, Retinal pigment e... ORPHA:827
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Attention deficit hyperactivity disorder, Limb hypertonia, Hypert... OMIM:617384
Leber Congenital Amaurosis 14
Falls, Congenital blindness, Reduced visual acuity, Optic disc pallor, Nyctalopia, Rod-cone dystr... OMIM:613341
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Alg6-Cdg
Protein-losing enteropathy, Failure to thrive, Seizure, Puberty and gonadal disorders, Abnormalit... ORPHA:79320
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Inappropriate laughter, Abnormality of extrapyramid... ORPHA:306682
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:601718
Renpenning Syndrome
High, narrow palate, Macrotia, Decreased testicular size, Sensorineural hearing impairment, Cache... ORPHA:3242
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia, Neuromuscular dysphagia, High palate ORPHA:171442
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwheel rigidity, Rigidit... ORPHA:97349
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Spasticity, Reduced visual acuity, Childhood-onset truncal obesity, Nyctalopia, Truncal obesity, ... OMIM:610156
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Gliosis, Neuronal loss in cent... ORPHA:683
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Spinocerebellar Ataxia Type 7
Macular degeneration, Cerebellar atrophy, Somatic sensory dysfunction, Cerebral atrophy, Failure ... ORPHA:94147
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:615490
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Optic atrophy, Hearing impairment, Failure to thrive in infancy, Cache... ORPHA:702
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Pa... OMIM:168601
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral ax... OMIM:617519
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Ataxia-Telangiectasia
Spasticity, Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Seizure, Failu... ORPHA:100
Flynn-Aird Syndrome
EEG abnormality, Cerebral cortical atrophy, Cachexia, Progressive sensorineural hearing impairment ORPHA:2047
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, ... ORPHA:98760
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder, Gastroesophageal reflux OMIM:615401
Gm1 Gangliosidosis
Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Oral aversion, Bilateral tonic-clo... ORPHA:354
Rett Syndrome
Failure to thrive, Seizure, Difficulty walking, Inability to walk, Bruxism, Increased serum lepti... ORPHA:778
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Bradykinesia, Visual impairment, Dysphagia, Gastroesophageal reflux, Goit... ORPHA:254892
Retinitis Pigmentosa 76
Retinal thinning, Constriction of peripheral visual field, Hyperautofluorescent macular lesion, P... OMIM:617123
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Reduced visual acuity, Optic disc drusen, Bone spicule pigme... OMIM:611040
Retinitis Pigmentosa 35
Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly,... ORPHA:79301
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, R... OMIM:258501
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Cone-Rod Dystrophy 12
Color vision defect, Bull's eye maculopathy, Central scotoma, Cone/cone-rod dystrophy, Reduced vi... OMIM:612657
Cerebral Sclerosis, Diffuse, Scholz Type
Spastic paraplegia, Blindness OMIM:302700
Infantile Refsum Disease
Optic atrophy, Spasticity, Failure to thrive, Seizure, Constriction of peripheral visual field, H... ORPHA:772
Early-Onset X-Linked Optic Atrophy
Color vision defect, Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention t... ORPHA:98890
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Progressive spastic paraplegia, Seizure, Bilateral cryptorchidism, Myocl... ORPHA:466722
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Substantia nigra gliosis, Babinski sign, Parkins... ORPHA:171695
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cerebral atrophy, Visu... OMIM:617951
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Rigidity, Orthostati... ORPHA:102
Cohen Syndrome
High, narrow palate, Optic atrophy, Seizure, Decreased response to growth hormone stimulation tes... OMIM:216550
Tay-Sachs Disease
Cherry red spot of the macula, Incoordination, Visual impairment, Dysphagia, Poor fine motor coor... ORPHA:845
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Low-set ears, Global brain atrophy, Cerebral atrophy, Failure to thrive in infancy, Cachexia, Pos... OMIM:616801
Abetalipoproteinemia
Broad-based gait, Positive Romberg sign, Acanthocytosis, Hepatic steatosis, Cirrhosis, Rod-cone d... ORPHA:14
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Hemiparesis, Reduced visual acuity, Ataxia, Spastic tetraparesis, Dysphagia, ... ORPHA:139396
Parkinsonism-Dystonia 1, Infantile-Onset
Gastroesophageal reflux, Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Par... OMIM:613135
Mulibrey Nanism
Cachexia ORPHA:2576
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... OMIM:604484
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Small for gestational age, Seizure, Cerebral atrophy, Inability to walk,... ORPHA:79243
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... OMIM:613280
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Sandhoff Disease
Ataxia, Spasticity, Myoclonic seizure, Fasciculations, Cherry red spot of the macula, Impaired te... OMIM:268800
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Visual impairment, Pigmentary re... OMIM:617282
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Sensorine... ORPHA:1933
Familial Exudative Vitreoretinopathy
Falciform retinal fold, Macular edema, Vitreoretinopathy, Subretinal fluid, Blindness, Epiretinal... ORPHA:891
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Pigmentary retinopathy, Seizure, Impaired vibration sensation in the lower li... ORPHA:88628
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Blindness, Abnormality of periphe... ORPHA:35069
Lcat Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased circulating apolipoprote... ORPHA:650
Sarcosinemia
Optic atrophy, Tetraparesis, Congenital blindness, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Cachexia, Macrotia ORPHA:2471
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, High myopia, Bull's eye maculopa... OMIM:312600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, High palate, Axonal degeneration OMIM:620011
Choreoacanthocytosis
Resting tremor, Acanthocytosis, Protruding tongue, Hair-pulling, Loss of ambulation, Parkinsonism... ORPHA:2388
Retinitis Pigmentosa 68
Visual field defect, Reduced visual acuity, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:615725
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Retinal dystrophy, Tritanomaly, Vi... OMIM:615147
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, F... ORPHA:99750
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ny... OMIM:613428
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Visual loss, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Seizure, Constriction of peripheral visual field, Blindness, Chorior... ORPHA:414
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Rigidity, Orthostati... ORPHA:98933
Isolated Atp Synthase Deficiency
Spastic paraplegia, Optic atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral cortical atrop... ORPHA:254913
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Eales Disease
Macular edema, Spastic paraparesis, Retinal thinning, Peripheral retinal neovascularization, Vitr... ORPHA:40923
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Adrenoleukodystrophy
Spastic paraplegia, Seizure, Incoordination, Neurodegeneration, Hypogonadism, Limb ataxia, Blindn... OMIM:300100
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... ORPHA:1876
Retinitis Pigmentosa 78
Cystoid macular edema, Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia, Optic d... OMIM:617433
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R... ORPHA:75567
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy, Nyctalopia, Visual impairment OMIM:613758
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Gastroi... ORPHA:478029
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Cerebellar atrophy, Pancytopenia, Sple... ORPHA:2585
Ring Chromosome 10 Syndrome
Low-set ears, Large earlobe, Abnormal antihelix morphology, Aganglionic megacolon, Cachexia ORPHA:1438
Wolman Disease
Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea ORPHA:75233
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinitis Pigmentosa 20
Visual impairment, Attenuation of retinal blood vessels, Rod-cone dystrophy, Nyctalopia, Severely... OMIM:613794
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Nyc... OMIM:613862
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Optic atrophy, Pigmentary retinopathy, Type I diabetes mellitus, Ab... ORPHA:96180
Desmoplastic Small Round Cell Tumor
Ileus, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Med... ORPHA:83469
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Diplopia, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with fav... OMIM:157640
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Nyctalopia, Optic di... OMIM:616394
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Inability to walk, Tremor, Ankle ... OMIM:617013
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Gastroesophageal reflu... ORPHA:206436
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Failure to thrive, Seizure, Cryptorchidism, Optic nerve dysplasia, Hypopl... OMIM:214110
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:614180
Optic Pathway Glioma
Precocious puberty, Optic atrophy, Seizure, Blindness, Visual loss, Visual field defect, Reduced ... ORPHA:2086
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Reduced visual acuity, Nyctalopia, Optic disc pallor, Photophobia, Retinal dystr... OMIM:616079
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Cataract 11, Multiple Types
Chorea, Blindness, Hypertonia OMIM:610623
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Difficulty walking, Chorea, Babinski sign, ... ORPHA:157846
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Disinhibition, ... OMIM:168605
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Constriction of peripheral visual field, Retinal degeneratio... OMIM:618144
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Scotoma, Rod-cone dystrophy, Nyctalopia, Progressive visual fiel... OMIM:601414
Retinal Cone Dystrophy 3B
Scotoma, Cone/cone-rod dystrophy, Reduced visual acuity, Nyctalopia, Macular atrophy, Myopia, Pho... OMIM:610356
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Seizure, Pancytopenia, Blindness, Splenomegal... OMIM:259700
Retinitis Pigmentosa 51
Macular degeneration, Obesity, High myopia, Attenuation of retinal blood vessels, Reduced visual ... OMIM:613464
Huntington Disease-Like 2
Cerebral cortical atrophy, Caudate atrophy, Weight loss ORPHA:98934
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Lymphadenopathy, ... ORPHA:444463
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Substantia nigra gliosis, Parkins... OMIM:168600
Idiopathic Achalasia
Weight loss, Dysphagia, Gastroesophageal reflux ORPHA:930
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Seizure, Visual loss, Retinopathy, Chorioretinal at... ORPHA:5
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Moderate myopia, Constriction of peripheral visual field, ... OMIM:300578
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Seizure, Intestinal malrotat... OMIM:300048
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia, Intention tremor, Dysmetria, ... ORPHA:93256
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramida... ORPHA:96
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Obesity, Chorioretinal atrophy, Choroideremia, Progressi... OMIM:303110
Immunodeficiency 9
Failure to thrive, Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Abnormal natural ki... OMIM:612782
Retinitis Pigmentosa 9
Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, ... OMIM:180104
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Usher Syndrome Type 1
Ataxia, Cerebral cortical atrophy, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetrop... ORPHA:231169
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Spasticity, Gastroesophageal reflux, Seizure, Blindness, Clonus, Tetra... ORPHA:3137
Supranuclear Palsy, Progressive, 1
Diplopia, Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Astrocytosis, Tremor, R... OMIM:601104
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Reduced visual acuity, Ataxia, Spastic parap... OMIM:615491
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Pho... OMIM:600852
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Seizure, Cranial nerve compression... OMIM:259710
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adreno... ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Seizure, Spastic tetraparesis, Cholestasis, Macrovesicular hepatic steatosis, ... OMIM:614924
Waisman Syndrome
Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ... OMIM:311510
Amyotrophic Lateral Sclerosis
Tongue atrophy, Xerostomia, Amyotrophic lateral sclerosis, Neurodegeneration, Cachexia, Motor neu... ORPHA:803
Macular Dystrophy, Retinal, 4
Choroidal neovascularization, Reduced OCT-measured foveal thickness, Reduced visual acuity, Nycta... OMIM:619977
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Seizur... ORPHA:199351
Hirschsprung Disease
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... ORPHA:388
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy, Blurred vision, Nyctalopia OMIM:614494
Fish-Eye Disease
Corneal opacity, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Pulmonary Blastoma
Weight loss ORPHA:64741
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Optic disc pallor, Nyctalopia, Photophobia, Visual im... OMIM:614186
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia, Hypohidrosis ORPHA:884
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Supranuclear Palsy, Progressive, 2
Diplopia, Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Blurred vision, Rigidity... OMIM:609454
Canavan Disease
Optic atrophy, Epileptic spasm, Blindness, Opisthotonus, Abnormal pyramidal sign, Bilateral tonic... OMIM:271900
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Global brain atrophy, Prelingual sensorineural heari... ORPHA:52368
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Rod-cone dystrophy, Nyctalopia OMIM:276902
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Blindness, Seizure OMIM:614514
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Type I diabetes mellitus, Failure to thrive, Blindness, Myoclonus, Ataxia... OMIM:560000
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation... OMIM:616680
Autosomal Dominant Dopa-Responsive Dystonia
Impaired vibration sensation in the lower limbs, Postural tremor, Gait ataxia, Rigidity, Abnormal... ORPHA:98808
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials ORPHA:1389
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Obesity, Peripheral visual field loss, Blindness, Attenuation of ret... ORPHA:791
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cer... OMIM:208920
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Dyschromatopsia, Centrocecal scot... OMIM:125250
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Retinal Dys