Gene: Dnajc5 MGI:892995

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

DnaJ heat shock protein family (Hsp40) member C5

Synonyms:

2610314I24Rik, Csp

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dnajc5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dnajc5 (1 diseases)
Human diseases predicted to be associated with Dnajc5 (1404 diseases)

The table below shows human diseases associated to Dnajc5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)		Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Increased neuronal...	OMIM:162350

The table below shows human diseases predicted to be associated to Dnajc5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Myopathy And Diabetes Mellitus	Tip-toe gait, Sensorineural hearing impairment, Inability to walk, Weakness of orbicularis oculi ...	ORPHA:2596
Infantile Refsum Disease	Spasticity, Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Short stature, A...	ORPHA:772
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Progressive visual loss, Undetectable visual evoked potentials, Optic atrophy, Truncal ataxia, Ar...	OMIM:601338
Oculopharyngodistal Myopathy 3	Increased variability in muscle fiber diameter, Conductive hearing impairment, Sensorineural hear...	OMIM:619473
Arts Syndrome	Optic atrophy, Ataxia, Progressive muscle weakness, Visual loss, Growth delay, Tetraplegia, Heari...	OMIM:301835
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Progressive distal muscle weakness, Progressive external ...	ORPHA:98897
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Poor fine motor coordination, Somatic sensory dysfunction, Flexion contracture, Optic atrophy, Ba...	ORPHA:99947
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Progressive external ophthalmoplegia, Progressive muscle weakness, Impaired distal proprioception...	OMIM:157640
Congenital Myasthenic Syndromes With Glycosylation Defect	Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Proximal muscle weakn...	ORPHA:353327
Narp Syndrome	Rod-cone dystrophy, Proximal muscle weakness, Blindness, Short stature, Cerebral cortical atrophy...	ORPHA:644
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Limb-girdle muscle weakness, Generalized muscle weakness, Wrist drop, Weakness of long finger ext...	ORPHA:98912
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Proximal muscle weakness, Shoulder girdle muscle atrophy, Scapular winging, Progressive proximal ...	OMIM:167320
Neuropathy, Ataxia, And Retinitis Pigmentosa	Rod-cone dystrophy, Blindness, Proximal muscle weakness, Retinopathy, Retinal pigment epithelial ...	OMIM:551500
Sandhoff Disease	Blindness, Ataxia, Muscle weakness, Failure to thrive, Hearing impairment, Cherry red spot of the...	ORPHA:796
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Blindness, Optic atrophy, Ataxia, Visual loss, Cerebral atrophy, Cerebellar atrophy,...	OMIM:610951
Developmental And Epileptic Encephalopathy 92	Cerebral visual impairment, Spasticity, Inability to walk, Myoclonus, Ataxia, Difficulty walking,...	OMIM:617829
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Retinopathy, Blindness, Abnormal pyramidal sign, Optic atrophy, Parkinsonism,...	ORPHA:216873
Homocystinuria Without Methylmalonic Aciduria	Cerebral cortical atrophy, Ataxia, Failure to thrive, Visual impairment, Lethargy	ORPHA:622
Marinesco-Sjogren Syndrome	Gait ataxia, Spasticity, Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated sk...	OMIM:248800
Distal Myopathy With Anterior Tibial Onset	Tibialis muscle weakness, Somatic sensory dysfunction, Limb-girdle muscle weakness, Weakness of t...	ORPHA:178400
Spinocerebellar Ataxia 17	Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at...	OMIM:607136
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lower-limb joint contracture, Paralysis, Muscle weakness, Distal muscle weakness, Skeletal muscle...	OMIM:613710
Coenzyme Q10 Deficiency, Primary, 1	Rod-cone dystrophy, Sensorineural hearing impairment, Decreased level of coenzyme Q10 in skeletal...	OMIM:607426
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Proximal muscle weakness, Generalized amyotrophy, Parkinsonism, Apraxia, Ab...	ORPHA:275872
Glut1 Deficiency Syndrome 1	Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi...	OMIM:606777
Developmental And Epileptic Encephalopathy 40	Spasticity, Cerebral cortical atrophy, Small for gestational age, Myoclonus, Choreoathetosis, Spa...	OMIM:617065
Amyotrophic Lateral Sclerosis 8	Abnormal pyramidal sign, Proximal muscle weakness, Postural tremor, Progressive muscle weakness, ...	OMIM:608627
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Progressive hearing impairment, Hypogonadism, Abnormal autonomic nervo...	ORPHA:97229
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h...	ORPHA:399086
Ceroid Lipofuscinosis, Neuronal, 1	Progressive visual loss, Flexion contracture, Blindness, Spasticity, Optic atrophy, Retinal degen...	OMIM:256730
Distal Anoctaminopathy	Peroneal muscle atrophy, Rhabdomyolysis, Progressive muscle weakness, Calf muscle pseudohypertrop...	ORPHA:399096
Behr Syndrome	Progressive visual loss, Cerebellar vermis atrophy, Adductor longus contractures, Blindness, Opti...	OMIM:210000
Tay-Sachs Disease	Poor fine motor coordination, Global brain atrophy, Precocious puberty, Quadriceps muscle atrophy...	ORPHA:845
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Spastic Paraplegia 55, Autosomal Recessive	Impaired distal vibration sensation, Lower limb muscle weakness, Optic atrophy, Tibialis anterior...	OMIM:615035
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Proximal muscle weakness, Progressive hearing impairment, Hypogonadism, Parkinsonism, Gait distur...	OMIM:609286
Leukodystrophy, Hypomyelinating, 14	Spasticity, Blindness, Growth delay, Cerebral atrophy, Cerebellar atrophy, Dystonia, Hearing impa...	OMIM:617899
Neurodegeneration With Brain Iron Accumulation 2A	Generalized muscle weakness, Abnormal pyramidal sign, Optic atrophy, Spastic tetraplegia, Ataxia,...	OMIM:256600
Isolated Succinate-Coq Reductase Deficiency	Proximal muscle weakness, Babinski sign, Frequent falls, Distal amyotrophy, Proportionate short s...	ORPHA:3208
Desminopathy	Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakness of respiratory mus...	ORPHA:98909
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Cerebral visual impairment, Spasticity, Abnormal po...	OMIM:304700
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Scotoma, Tremor, ...	OMIM:165300
Retinitis Pigmentosa	Conductive hearing impairment, Blindness, Sensorineural hearing impairment, Ophthalmoplegia, Opti...	ORPHA:791
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,...	ORPHA:59181
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Spasticity, Blindness, Optic atrophy, Severely reduced visual acuity, Hearing impairment	OMIM:309555
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Tritanomaly, Spasticity, Red-green dyschromatopsi...	OMIM:125250
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Infantile sensorineural hearing impairment, Generalized muscle weakness, Spinal muscular atrophy,...	ORPHA:254875
Methylmalonic Acidemia With Homocystinuria	Retinopathy, Amblyopia, Gait disturbance, Failure to thrive, Lethargy	ORPHA:26
Retinitis Pigmentosa Inversa With Deafness	Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment, Blindness, Ex...	OMIM:268010
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Progressive visual loss, Conductive hearing impairment, Chor...	OMIM:303110
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Poor fine motor coordination, Spasticity, Cerebral cortical atrophy, Blindness, Brain atr...	ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 2	Gait ataxia, Spasticity, Cerebellar vermis atrophy, Short stature, Limb ataxia, Incoordination, A...	OMIM:213200
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Posterior Column Ataxia With Retinitis Pigmentosa	Impaired vibration sensation in the lower limbs, Pigmentary retinopathy, Rod-cone dystrophy, Blin...	OMIM:609033
Ceroid Lipofuscinosis, Neuronal, 3	Progressive visual loss, Rod-cone dystrophy, Blindness, Optic atrophy, Parkinsonism, Retinal dege...	OMIM:204200
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Generalized muscle weakness, Macrotia, Ophthalmoparesis, Gowers sign, Facial palsy, Arthrogryposi...	OMIM:608930
Postsynaptic Congenital Myasthenic Syndromes	Upper limb muscle weakness, Facial palsy, Weakness of long finger extensor muscles, Triceps weakn...	ORPHA:98913
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Dysdiadochokinesis, Spastic gait,...	OMIM:238970
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Ab...	ORPHA:96
Late-Infantile/Juvenile Krabbe Disease	Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Upper limb m...	ORPHA:206443
Severe Canavan Disease	Spasticity, Blindness, Optic atrophy, Inability to walk, Babinski sign, Poor head control, Lethar...	ORPHA:314911
Machado-Joseph Disease	Truncal ataxia, Abnormal autonomic nervous system physiology, Facial-lingual fasciculations, Babi...	OMIM:109150
Central Areolar Choroidal Dystrophy	Slow decrease in visual acuity, Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Re...	ORPHA:75377
Multiple Carboxylase Deficiency	Optic atrophy, Coma, Scotoma, Ataxia, Spastic paraparesis, Visual impairment, Lethargy, Limb musc...	ORPHA:148
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ...	ORPHA:71277
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Cerebral visual impairment, Conductive hearing impairment, Inability to walk, Myoclonus, Choreoat...	OMIM:618497
Susac Syndrome	Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Diplopia, Upper motor...	ORPHA:838
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Sensorineural hearing impairment, Increased body mass index, Short stature, Microphal...	OMIM:300957
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness, Hearing impairment, Lower limb muscle weakness, Spastic paraplegia	OMIM:302700
Distal Nebulin Myopathy	Weakness of long finger extensor muscles, Neck flexor weakness, Fatty replacement of skeletal mus...	ORPHA:399103
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Difficulty walking, Ataxia, Knee flexion contracture	OMIM:616330
Huntington Disease-Like 1	Gait ataxia, Chorea, Poor fine motor coordination, Cerebral cortical atrophy, Abnormal posturing,...	ORPHA:157941
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal muscle weakness, Axonal degeneration, Degeneration of anterior horn cells, Gait disturba...	OMIM:604484
Optic Atrophy 1	Tritanomaly, Proximal muscle weakness, Red-green dyschromatopsia, Optic atrophy, Centrocecal scot...	OMIM:165500
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Blindness, Choriocapillaris atrophy, Retinal thinning, Large ...	ORPHA:41751
Leigh Syndrome	Spasticity, Sensorineural hearing impairment, Ophthalmoplegia, Optic atrophy, Ataxia, Failure to ...	OMIM:256000
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Rod-cone dystrophy, Tip-toe gait, Blindness, Inability to walk, Weight loss, Optic di...	ORPHA:216866
Myopathy, Scapulohumeroperoneal	Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle...	OMIM:616852
Mitochondrial Complex I Deficiency, Nuclear Type 3	Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Lethargy, Dystonia	OMIM:618224
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Myopathy, Hypertonia, Lethargy, Dystonia, Intrauterine growth r...	ORPHA:26792
Xq21 Microdeletion Syndrome	Stapes ankylosis, Conductive hearing impairment, Optic atrophy, Anterior hypopituitarism, Bilater...	ORPHA:1435
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, EMG: myopathic abnorm...	ORPHA:98902
Nemaline Myopathy 5	Z-band streaming, Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Nem...	OMIM:605355
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Proximal muscle weakness, Muscle fiber atrophy, Optic atrophy, Actio...	ORPHA:254886
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Global brain atrophy, Spasticity, External ophthalmoplegia, Optic disc pallor, Coma, Gait disturb...	OMIM:615838
Mohr-Tranebjaerg Syndrome	Global brain atrophy, Prelingual sensorineural hearing impairment, Inability to walk, Optic atrop...	ORPHA:52368
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Spasticity, Global brain atrophy, Shuffling gait, Parkinsonism, Rigi...	OMIM:221820
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Gowers sign, Facia...	ORPHA:169186
Dystonia 31	Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty...	OMIM:619565
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Slow decrease in visual acuity, Proximal muscle weakness, Mild neurosensory hearing impairment, O...	OMIM:601152
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp...	ORPHA:204
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Generalized muscle weakness, Prolonged miniature endplate currents, Loss of ambulation, Decreased...	OMIM:616321
Central Neurocytoma	Paresthesia, Coma, Ataxia, Babinski sign, Pain insensitivity, Tinnitus, Lethargy, Abnormality of ...	ORPHA:73256
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Progressive visual loss, Rod-cone dystrophy, Increased OCT-me...	ORPHA:85128
Huntington Disease	Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebellar atrop...	OMIM:143100
Mitochondrial Complex I Deficiency, Nuclear Type 5	Brain atrophy, Ophthalmoplegia, Optic atrophy, Ataxia, Babinski sign, Failure to thrive, Growth d...	OMIM:618226
Distal Myotilinopathy	Loss of ability to walk in first decade, Multiple joint contractures, Progressive distal muscle w...	ORPHA:98911
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Sensorineural hearing impairment, Centrally nucleated skeletal muscle fibers, Short stature, Prog...	OMIM:619518
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness, Visual loss, Hearing impairment	OMIM:614885
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Abnormali...	ORPHA:101150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paresthesia, Sensorineural hearing impairment, Optic atrophy, Short stature, Retinal dystrophy, V...	ORPHA:49827
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Generalized muscle weakness, Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Lower limb mu...	OMIM:601462
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibration sensation at ankles, Flexion contracture, Progressive visual loss, Optic atrop...	OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive 27	Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Gait imbalance, Torticollis, ...	OMIM:618369
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Growth delay, Hypertonia, Tetraplegia, Cerebral atrophy, Lethargy	OMIM:274270
Wolfram-Like Syndrome, Autosomal Dominant	Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo...	OMIM:614296
Retinitis Pigmentosa 59	Spasticity, Rod-cone dystrophy, Sensorineural hearing impairment, Failure to thrive, Cystoid macu...	OMIM:613861
Myasthenic Syndrome, Congenital, 5	Generalized muscle weakness, Decreased muscle mass, Ophthalmoparesis, Fatigable weakness, Prolong...	OMIM:603034
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Blindness, Basal ganglia gliosis, Inability to walk, Drowsiness, Small for g...	ORPHA:79243
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Blindness, Optic atrophy, Gait disturbance, Gliosis, Unsteady gait, Lethargy	OMIM:603896
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Optic disc pallor, Visual field defect, Retinal atroph...	OMIM:616544
Leber Congenital Amaurosis 1	Blindness, Sensorineural hearing impairment, Optic disc drusen, Reduced visual acuity, Attenuatio...	OMIM:204000
Dopa-Responsive Dystonia	Inability to walk, Parkinsonism, Fatigable weakness, Poor coordination, Oculogyric crisis, Rigidi...	ORPHA:255
Canavan Disease	Flexion contracture, Blindness, Optic atrophy, Abnormality of retinal pigmentation, Hypertonia, V...	ORPHA:141
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Axial muscle atrophy, Limb-girdle muscle weakness, Generalized muscle weakness, Gowers sign, Calf...	ORPHA:254361
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Blindness, Brain atrophy, Ophthalmoplegia, Myoclonus, Ataxia, Lethargy	OMIM:618225
Spastic Ataxia 9, Autosomal Recessive	Hoffmann sign, Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Cerebell...	OMIM:618438
Early-Onset X-Linked Optic Atrophy	Gait ataxia, Progressive visual loss, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Chore...	ORPHA:98890
Sarcosinemia	Congenital blindness, Infantile sensorineural hearing impairment, Optic atrophy, Ataxia, Tetrapar...	ORPHA:3129
Huntington Disease-Like 2	Chorea, Cerebral cortical atrophy, Weight loss, Parkinsonism, Gait disturbance, Caudate atrophy, ...	ORPHA:98934
Idiopathic Intracranial Hypertension	Pulsatile tinnitus, Diplopia, Papilledema, Blurred vision, Obesity, Photophobia, Vertigo, Visual ...	ORPHA:238624
Spastic Paraplegia 81, Autosomal Recessive	Cerebral visual impairment, Ankle clonus, Sensorineural hearing impairment, Optic atrophy, Inabil...	OMIM:618768
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Gowers sign, Hypopituitarism, Generalized limb muscle atrophy, Progressive muscle weakness, Muscl...	OMIM:600462
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Progressive visual loss, Sensorineural hearing impairment, Temporal ...	ORPHA:1215
Mepan Syndrome	Chorea, Spasticity, Optic atrophy, Limb dystonia, Hemidystonia, Myoclonus, Gait disturbance, Atax...	ORPHA:508093
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor...	OMIM:236792
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Inability to walk, Babinski sign, Truncal titubation, Action tremor, Hypertonia, Frequent falls, ...	OMIM:607483
Leukodystrophy, Hypomyelinating, 21	Corpus callosum atrophy, Optic atrophy, Coma, Ataxia, Failure to thrive, Hypogonadotropic hypogon...	OMIM:619310
Hsd10 Disease, Infantile Type	Rod-cone dystrophy, Blindness, Frontotemporal cerebral atrophy, Optic atrophy, Spastic diplegia, ...	ORPHA:391428
Pelizaeus-Merzbacher Disease, Connatal Form	Inability to walk, Short stature, Titubation, Ataxia, Dystonic gait, Failure to thrive, Difficult...	ORPHA:280210
Retinitis Pigmentosa 11	Rod-cone dystrophy, Blindness, Macular edema, Optic disc pallor, Macular degeneration, Macular at...	OMIM:600138
Duchenne Muscular Dystrophy	Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy, Progressive muscle weakne...	ORPHA:98896
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Myopathy, Type 2 muscle fiber atrophy, Decrea...	OMIM:605809
Alpers-Huttenlocher Syndrome	Spasticity, Blindness, Progressive spasticity, Coma, Myoclonus, Choreoathetosis, Paraparesis, Ata...	ORPHA:726
Usher Syndrome Type 1	Cerebral cortical atrophy, Sensorineural hearing impairment, Hemianopia, Subcortical cerebral atr...	ORPHA:231169
Infantile Neuroaxonal Dystrophy	Spasticity, Flexion contracture, Blindness, Abnormality of peripheral nerve conduction, Optic atr...	ORPHA:35069
Bethlem Myopathy	Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract...	ORPHA:610
Hsd10 Disease	Progressive visual loss, Frontotemporal cerebral atrophy, Optic atrophy, Rigidity, Myoclonus, Cho...	ORPHA:391417
Combined Oxidative Phosphorylation Deficiency 24	Cerebral visual impairment, Spasticity, Proximal muscle weakness, Optic atrophy, Neuronal loss in...	OMIM:616239
Citrullinemia Type I	Spasticity, Ankle clonus, Coma, Torticollis, Scotoma, Ataxia, Failure to thrive, Slurred speech, ...	ORPHA:247525
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Macrotia, Inability to walk, Gowers sign, Small for gestational age, Fatiguable weakness of proxi...	ORPHA:319332
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, Lethargy, Dystonia	OMIM:250620
Multifocal Motor Neuropathy	Weakness of long finger extensor muscles, Motor conduction block, Progressive distal muscle weakn...	ORPHA:641
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral visual impairment, Spasticity, Sensorineural hearing impairment, Spastic tetraplegia, Ce...	OMIM:619847
Optic Pathway Glioma	Precocious puberty, Blindness, Ophthalmoplegia, Optic atrophy, Fatigable weakness, Visual field d...	ORPHA:2086
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Spasticity, Cerebral cortical atrophy, Optic atrophy, Short stature...	ORPHA:702
Ataxia-Telangiectasia-Like Disorder 2	Flexion contracture, Short stature, Ataxia, Progressive muscle weakness, Muscle weakness, Cerebel...	OMIM:615919
Polyendocrine-Polyneuropathy Syndrome	Progressive hearing impairment, Short stature, Hypogonadism, Ataxia, Dystonia, Postnatal growth r...	OMIM:616113
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Proximal muscle weakness, Fatigable weakness, Fatigable weakness of neck m...	ORPHA:42
Hemimegalencephaly	Oculomotor nerve palsy, Hemianopia, Optic atrophy, Hemiparesis, Myoclonus, Gliosis, Abnormal neur...	ORPHA:99802
Cyclic Vomiting Syndrome	Ataxia, Muscle weakness, Growth delay, Lethargy, Hearing impairment	OMIM:500007
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Chorea, Ophthalmoplegia, Ataxia, Lethargy, Bradykinesia	OMIM:618683
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ophthalmoparesis, Fatigable weakness, Type 2 muscle fiber atrophy, Decreased miniature endplate p...	OMIM:254210
Congenital Disorder Of Glycosylation, Type In	Spasticity, Sensorineural hearing impairment, Short stature, Myoclonus, Ataxia, Failure to thrive...	OMIM:612015
Choroideremia	Progressive visual loss, Choroideremia, Granular macular appearance, Retinal pigment epithelial m...	OMIM:303100
Cln3 Disease	Progressive visual loss, Amblyopia, Blindness, Shuffling gait, Optic atrophy, Extrapyramidal musc...	ORPHA:228346
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Limb-girdle muscle weakness, Cerebral cortical atrophy, Multiple joint co...	ORPHA:370968
Infantile Krabbe Disease	Optic atrophy, Cachexia, Hyperesthesia, Hearing impairment, Neck muscle weakness, Spasticity, Ank...	ORPHA:206436
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Gait ataxia, Somatic sensory dysfunction, Spasticity, Cerebellar vermis atrophy, Paresthesia, Opt...	ORPHA:466794
Spinocerebellar Ataxia Type 25	Gait ataxia, Facial myokymia, Spastic dysarthria, Babinski sign, Impaired distal tactile sensatio...	ORPHA:101111
Juvenile Amyotrophic Lateral Sclerosis	Proximal muscle weakness, Muscle fiber atrophy, Inability to walk, Cachexia, Axial dystonia, Diff...	ORPHA:300605
Craniodiaphyseal Dysplasia	Stenosis of the external auditory canal, Conductive hearing impairment, Short stature, Optic atrophy	ORPHA:1513
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Myofibrillar myopathy, Autophagic vacuoles, Progressive distal muscle wea...	OMIM:609452
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Generalized muscle weakness, Weight loss, Cachexia, Progressive external ophthalmoplegia, Ataxia,...	OMIM:613662
Retinitis Pigmentosa 4	Rod-cone dystrophy, Blindness, Visual field defect, Retinal atrophy, Bone spicule pigmentation of...	OMIM:613731
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Gait ataxia, Impaired vibration sensation in the lower limbs, Blindness, Optic atrophy, Spastic d...	ORPHA:95433
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Muscle ...	ORPHA:99014
Immunoneurologic Disorder, X-Linked	Small for gestational age, Progressive proximal muscle weakness, Nyctalopia, Spastic paraplegia	OMIM:300076
Retinitis Pigmentosa 27	Rod-cone dystrophy, Blindness, Macular edema, Macular atrophy, Peripapillary chorioretinal atroph...	OMIM:613750
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Neck flexor weakness, Gait imbalance, Fatigable weakness of respiratory m...	ORPHA:329336
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Truncal ataxia, Myopia, Myopathy, Difficulty walking, Cerebral at...	ORPHA:369847
Adrenoleukodystrophy	Impaired vibration sensation at ankles, Blindness, Lower limb muscle weakness, Hypogonadism, Trun...	OMIM:300100
Juvenile Huntington Disease	Gait ataxia, Chorea, Cerebellar vermis atrophy, Weight loss, Rigidity, Myoclonus, Ataxia, Cerebel...	ORPHA:248111
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment, Blindness, Abnormal macular morphology, Small...	ORPHA:90050
3-Methylglutaconic Aciduria, Type Iii	Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Babinski...	OMIM:258501
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Blindness, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the reti...	OMIM:180210
Triosephosphate Isomerase Deficiency	Spasticity, Progressive muscle weakness, Muscle weakness, Failure to thrive, Tremor, Myopathy, Sk...	OMIM:615512
Retinitis Pigmentosa 29	Rod-cone dystrophy, Blindness, Attenuation of retinal blood vessels	OMIM:612165
Insulinoma	Hearing abnormality, Generalized muscle weakness, Paresthesia, Fluctuations in consciousness, Com...	ORPHA:97279
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Proximal muscle weakness, Atrophy/Degeneration involving the spinal cord, Progressive external op...	OMIM:607459
Synaptic Congenital Myasthenic Syndromes	Proximal muscle weakness, Unfavorable response of muscle weakness to acetylcholine esterase inhib...	ORPHA:98915
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced visual acuity, Blindness, Macular dystrophy	OMIM:601553
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormal flash visual evoked potentials, Atrophy/Degeneration affecting the brains...	ORPHA:98755
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebral cortical atrophy, Progressive external ophthalmoplegia, Babinski sign, Difficulty walkin...	OMIM:616479
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Chorea, Optic atrophy, Coma, Choreoathetosis, Hemiplegia/hemiparesis, Growth delay, Lethargy, Dys...	ORPHA:289916
Maternal Uniparental Disomy Of Chromosome 4	Neck flexor weakness, Sensorineural hearing impairment, Decreased body weight, Spastic gait, Opti...	ORPHA:96180
Macular Dystrophy, Patterned, 1	Reduced visual acuity, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphop...	OMIM:169150
Leukodystrophy, Hypomyelinating, 15	Progressive visual loss, Amblyopia, Sensorineural hearing impairment, Spasticity, Optic atrophy, ...	OMIM:617951
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Cerebral atrophy,...	OMIM:312170
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Upper limb muscle weak...	ORPHA:225154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s...	OMIM:105550
Mitochondrial Complex I Deficiency, Nuclear Type 6	Abnormal pyramidal sign, Brain atrophy, Optic atrophy, Failure to thrive, Lethargy	OMIM:618228
Usher Syndrome Type 3	Hemianopia, Sensorineural hearing impairment, Scotoma, Ataxia, Visual loss, Vestibular hypofuncti...	ORPHA:231183
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance, Blindness	OMIM:607674
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Gait ataxia, Impaired vibration sensation in the lower limbs, Rod-cone dystrophy, Abnormal sensor...	ORPHA:88628
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Amyotrophic lateral sclerosis, Gliosis, Athetosis, Dystonia	OMIM:300857
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy, Gait disturbance	ORPHA:79283
Krabbe Disease	Blindness, Optic atrophy, Progressive spasticity, Abnormal flash visual evoked potentials, Diffus...	OMIM:245200
Cach Syndrome	Spasticity, Flexion contracture, Blindness, Cerebellar vermis atrophy, Optic atrophy, Spastic dip...	ORPHA:135
Spastic Paraplegia 75, Autosomal Recessive	Impaired distal vibration sensation, Spasticity, Abnormal pyramidal sign, Distal lower limb amyot...	OMIM:616680
Leber Congenital Amaurosis 2	Blindness, Optic disc pallor, Photophobia, Attenuation of retinal blood vessels, Fundus atrophy, ...	OMIM:204100
Congenital Myopathy 13	Conductive hearing impairment, Flexion contracture, Fatty replacement of skeletal muscle, Short s...	OMIM:255995
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Spasticity, Tip-toe gait, Optic atrophy, Progressive gait ataxia, Clumsiness, Abnorm...	ORPHA:309256
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, Cerebral cortical atrophy, Cerebral palsy, Inability to walk, Poor...	OMIM:617976
Leber Congenital Amaurosis 14	Congenital blindness, Rod-cone dystrophy, Falls, Optic disc pallor, Retinal dystrophy, Photophobi...	OMIM:613341
Pontocerebellar Hypoplasia, Type 6	Spasticity, Cerebral cortical atrophy, Brain atrophy, Appendicular spasticity, Upper limb spastic...	OMIM:611523
Usher Syndrome, Type Iiia	Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Abnormal vestibular fu...	OMIM:276902
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Friedreich Ataxia	Poor fine motor coordination, Inability to walk, Optic atrophy, Babinski sign, Hearing impairment...	ORPHA:95
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Muscl...	OMIM:614299
Glycerol Kinase Deficiency	Short stature, Muscular dystrophy, Small for gestational age, Coma, Myopathy, Loss of consciousne...	OMIM:307030
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Central scotoma, Photophobia, Ataxia, Color vision defect, Blind-spot enlargme...	OMIM:616732
Usher Syndrome	Progressive visual loss, Cerebral cortical atrophy, Sensorineural hearing impairment, Blindness, ...	ORPHA:886
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Frequent falls, Hypertonia, Lethargy, Hearing impairment, Bradykinesia, Facial p...	ORPHA:254892
Leber Congenital Amaurosis 4	Blindness, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atrophy, Attenuation of retina...	OMIM:604393
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban...	ORPHA:225147
Cone-Rod Dystrophy 16	Progressive visual loss, Rod-cone dystrophy, Cone/cone-rod dystrophy, Optic disc pallor, Macular ...	OMIM:614500
Usher Syndrome, Type Iv	Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d...	OMIM:618144
Usher Syndrome, Type Iid	Rod-cone dystrophy, Abnormal vestibular function, Hearing impairment, Nyctalopia	OMIM:611383
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Blindness, Macular edema, Tractional retinal detachment, Fa...	ORPHA:891
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Progressive visual loss, Flexion contracture, Optic atrophy, Myoclonus, Scotoma, Ata...	OMIM:616505
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Macrotia, Decreased response to growth hormone stimulation test, Short stature, Decreased testicu...	ORPHA:457240
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Spasticity, Optic atrophy, Ataxia, Failure to thrive, Hypertonia, V...	OMIM:616881
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Hypogonadism, Microtia, Abnormal...	ORPHA:3216
Spastic Paraplegia 50, Autosomal Recessive	Spastic tetraplegia, Limb hypertonia, Cerebral palsy, Ataxia, Babinski sign, Gliosis, Cerebellar ...	OMIM:612936
Retinitis Pigmentosa 80	Progressive visual loss, Blindness, Macular atrophy, Bone spicule pigmentation of the retina, Att...	OMIM:617781
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Sensorineural hearing impairment, Short stature, Cachexia, Ataxia, Decreased nerve conduction vel...	ORPHA:1933
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Rigidity, Neuronal loss in central nervous syste...	ORPHA:683
Lethal Ataxia With Deafness And Optic Atrophy	Tetraplegia, Blindness, Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased ...	ORPHA:1187
Persistent Placoid Maculopathy	Amblyopia, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascula...	ORPHA:97341
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Inability to walk, Oculomotor apraxia, Difficulty walking, Facial myokymia,...	ORPHA:139396
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Generalized amyotrophy, Muscle weakness, Failure to thrive, Growth delay, Lethargy, Ragged-red mu...	OMIM:613561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Coma, Choreoathetosis, Failure to thrive, Lethargy, Dystonia	ORPHA:79312
Retinitis Pigmentosa 62	Rod-cone dystrophy, Optic disc pallor, Visual field defect, Bone spicule pigmentation of the reti...	OMIM:614181
Pontocerebellar Hypoplasia, Type 2A	Chorea, Extrapyramidal dyskinesia, Cerebral cortical atrophy, Optic atrophy, Gliosis, Visual impa...	OMIM:277470
Galactosemia	Gait imbalance, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, ...	ORPHA:352
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Isolated Complex I Deficiency	Sensorineural hearing impairment, Blindness, Optic disc pallor, Abnormal mitochondria in muscle t...	ORPHA:2609
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Diplopia, Abnormality of extrapyramidal motor function, Myoclonus, Neuronal loss in central nervo...	OMIM:604218
Spinocerebellar Ataxia Type 7	Hemeralopia, Somatic sensory dysfunction, Blindness, Ophthalmoplegia, Ophthalmoparesis, Dysdiadoc...	ORPHA:94147
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Short stature, Reduced visual acuity, External genital hypoplasia, Retinal de...	OMIM:615993
Huntington Disease	Poor fine motor coordination, Inability to walk, Babinski sign, Difficulty walking, Bradykinesia,...	ORPHA:399
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Short stature, Retinal thinning, Asteroid hyalosis, Myopia	OMIM:132450
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Dystonia, Ataxia	OMIM:246900
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Optic atrophy, Progressive gait ataxia, Clumsiness, Abnormality of visual evoked pote...	ORPHA:309263
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Cerebral cortical atrophy, Blindness, Gait disturbance, Failure to thrive, Hypertonia, Cerebral a...	OMIM:236270
Usher Syndrome, Type 1M	Prelingual sensorineural hearing impairment, Left ventricular hypertrophy, Abnormal vestibular fu...	OMIM:618632
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Pyruvate Dehydrogenase Deficiency	Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T...	ORPHA:765
Mitochondrial Myopathy With Lactic Acidosis	Moderate sensorineural hearing impairment, Spasticity, Proximal muscle weakness, Tip-toe gait, Go...	OMIM:251950
Leber Congenital Amaurosis 9	Optic atrophy, Ultra-low vision, Reduced visual acuity, Retinal dots, Retinal pigment epithelial ...	OMIM:608553
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Limb dystonia, Choreoathetosis, Bull's eye maculopathy, Peripheral visual field lo...	ORPHA:157850
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Optic disc pallor, Babinski sign, Paroxysmal dyskinesia, Spasticity...	OMIM:617282
Late-Onset Retinal Degeneration	Retinopathy, Sub-RPE deposits, Retinal degeneration, Scotoma, Choroidal neovascularization, Visua...	OMIM:605670
Retinal Capillary Malformation	Progressive visual loss, Amblyopia, Blindness, Vitreous hemorrhage, Retinal exudate, Central fund...	ORPHA:71213
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Generalized muscle weakness, Drowsiness, Coma, Tremor, Lethargy, Increased body weight	ORPHA:276608
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral visual impairment, Flexion contracture, Spasticity, Cerebral cortical atrophy, Postural ...	OMIM:301072
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gait ataxia, Chorea, Generalized dystonia, Ophthalmoplegia, Spastic tetraplegia, Myoclonus, Left ...	OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 1	Spasticity, Sensorineural hearing impairment, Blindness, Undetectable visual evoked potentials, O...	OMIM:252010
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy, Dystonia	OMIM:233910
Retinitis Pigmentosa 32	Reduced visual acuity, Retinal degeneration, Bone spicule pigmentation of the retina, Photophobia...	OMIM:609913
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Sensorineural hearing impairment, Brain atrophy, J...	OMIM:214150
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness, Ophthalmoparesis, Myoclonus, Ataxia, Failure to thrive, Hearin...	OMIM:560000
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Progressive visual loss, Diplopia, Ataxia, Ve...	ORPHA:616
Dk1-Cdg	Progressive muscle weakness, Failure to thrive, Short stature, Visual impairment	ORPHA:91131
Congenital Stationary Night Blindness	Retinal thinning, Congenital stationary night blindness with normal fundus, Abnormality of retina...	ORPHA:215
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Progressive spastic paraplegia, Progressive spastic paraparesis, Moderately short stature, Hypore...	ORPHA:506353
Classic Galactosemia	Gait imbalance, Postural tremor, Clumsiness, Gait disturbance, Incoordination, Ataxia, Delayed pu...	ORPHA:79239
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Confusion, Lethargy, Gliosis	OMIM:613002
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid...	ORPHA:90646
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Inability to walk, Optic atrophy, Cataplexy, Upper limb spasticity, Diffuse cerebral atrophy, Ata...	OMIM:617193
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Spasticity, Retinal dystrophy, Truncal obesity, Reduced visual a...	OMIM:610156
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Reduced visual acuity, Optic...	OMIM:611040
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Coma, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Lethargy	ORPHA:27
Cataract 11, Multiple Types	Chorea, Blindness, Hypertonia	OMIM:610623
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy, Growth delay, Short stature	OMIM:618573
Autosomal Spastic Paraplegia Type 58	Erratic myoclonus, Titubation, Babinski sign, Frequent falls, Distal amyotrophy, Unsteady gait, G...	ORPHA:397946
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Cerebral visual impairment, Optic atrophy, Limb hypertonia, Myoclonic spasms, Abnormal autonomic ...	OMIM:614498
Metachromatic Leukodystrophy, Adult Form	Chorea, Orthostatic hypotension due to autonomic dysfunction, Spasticity, Neoplasm of the gallbla...	ORPHA:309271
Achromatopsia	Retinal pigment epithelial atrophy, Monochromacy, Abnormal macular morphology, Reduced visual acu...	ORPHA:49382
Abruzzo-Erickson Syndrome	Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Hypospa...	ORPHA:921
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine...	ORPHA:87884
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Flynn-Aird Syndrome	Rod-cone dystrophy, Cerebral cortical atrophy, Cachexia, Progressive sensorineural hearing impair...	ORPHA:2047
Giant Cell Arteritis	Conductive hearing impairment, Paresthesia, Diplopia, Ophthalmoparesis, Weight loss, Visual field...	ORPHA:397
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Blindness, Hearing impairment, Ataxia	OMIM:271250
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Blepharospasm, Multiple joint contractures, Inability to walk, Writer's cramp...	OMIM:128100
Pyruvate Dehydrogenase E3 Deficiency	Spasticity, Reduced visual acuity, Ataxia, Failure to thrive, Lethargy	ORPHA:2394
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat...	OMIM:601718
Leigh Syndrome	Multiple joint contractures, Optic atrophy, Choreoathetosis, Upper motor neuron dysfunction, Abno...	ORPHA:506
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Rhabdomyolysis, Retinal dystrophy, Ataxia, Muscle weakness, Tremor, Myopathy	ORPHA:713
Methylcobalamin Deficiency Type Cble	Brain atrophy, Drowsiness, Intrauterine growth retardation, Failure to thrive, Excessive daytime ...	ORPHA:2169
Developmental And Epileptic Encephalopathy 14	Spasticity, Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis, Tetraple...	OMIM:614959
Late Infantile Neuronal Ceroid Lipofuscinosis	Cortical myoclonus, Spasticity, Blindness, Inability to walk, Retinal degeneration, Myoclonus, Ga...	ORPHA:168491
Retinitis Pigmentosa 1	Rod-cone dystrophy, Optic disc pallor, Scotoma, Bone spicule pigmentation of the retina, Attenuat...	OMIM:180100
Bardet-Biedl Syndrome 21	Rod-cone dystrophy, Blindness, Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Hypera...	OMIM:617406
Congenital Myopathy With Myasthenic-Like Onset	Proximal muscle weakness, Multiple joint contractures, Ophthalmoplegia, Rhabdomyolysis, Fatigable...	ORPHA:424107
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Gait disturbance, Abnormality of visual evoked potentials, D...	OMIM:601455
Gm1 Gangliosidosis	Camptodactyly of finger, Optic atrophy, Unsteady gait, Abnormal retinal vascular morphology, Apla...	ORPHA:354
Myasthenic Syndrome, Congenital, 10	Proximal amyotrophy, Ophthalmoparesis, Gowers sign, Fatigable weakness, Waddling gait, Weakness o...	OMIM:254300
Retinitis Pigmentosa 78	Optic disc pallor, Visual field defect, Cystoid macular edema, Photopsia, Reduced visual acuity, ...	OMIM:617433
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Short stature, Retinal dystrophy, Bone sp...	OMIM:616108
Cln5 Disease	Spasticity, Cerebral cortical atrophy, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Clu...	ORPHA:228360
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi...	OMIM:615982
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Cerebral cortical atrophy, Diplopia, Shuffl...	ORPHA:411602
Huntington Disease-Like 2	Chorea, Cerebral cortical atrophy, Weight loss, Rigidity, Action tremor, Dystonia, Bradykinesia	OMIM:606438
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles, Abnormal pin...	OMIM:221300
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Diplopia, Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Progressi...	ORPHA:663
X-Linked Neurodegenerative Syndrome, Hamel Type	Spasticity, Blindness	ORPHA:85336
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Blindness, Parkinsonism, Large central visual field defect, Retinal...	ORPHA:79264
Myasthenic Syndrome, Congenital, 12	Ophthalmoparesis, Gowers sign, Fatigable weakness, Neck muscle weakness, Waddling gait, Proximal ...	OMIM:610542
Sandhoff Disease	Exaggerated startle response, Spasticity, Blindness, Macroglossia, Ataxia, Upper motor neuron dys...	OMIM:268800
Eales Disease	Vitreous hemorrhage, Blindness, Macular edema, Vitreous haze, Optic disc pallor, Vitritis, Subhya...	ORPHA:40923
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Gait ataxia, Progressive visual loss, Abnormality of pattern visual evoked potentials, Inability ...	ORPHA:1947
Spinocerebellar Ataxia 25	Abolished vibration sense, Oculomotor apraxia, Ataxia, Babinski sign, Impaired pain sensation, Vi...	OMIM:608703
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Clumsiness, Impaired vibratory sensation, Conductive hearing impairment, Sensorineural hearing im...	OMIM:610738
Refsum Disease, Classic	Somatic sensory dysfunction, Rod-cone dystrophy, Sensorineural hearing impairment, Retinal degene...	OMIM:266500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Short stature, Distal sensory impairment, Ataxia, Progressive muscle weakness, Failure to thrive,...	OMIM:256810
Macular Dystrophy, Vitelliform, 3	Reduced visual acuity, Macular atrophy, Choroidal neovascularization, Color vision defect, Vitell...	OMIM:608161
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Retinal hamartoma, Ependymoma, Hyperesthesia, Tinnitus, Abnormal opt...	ORPHA:637
Refsum Disease	Progressive visual loss, Retinopathy, Sensorineural hearing impairment, Abnormal pyramidal sign, ...	ORPHA:773
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar...	OMIM:618093
Van Den Bosch Syndrome	Scapular winging, High myopia, Unfavorable response of muscle weakness to acetylcholine esterase ...	ORPHA:3417
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ex...	OMIM:160565
Retinitis Pigmentosa 70	Rod-cone dystrophy, Optic disc pallor, Retinal degeneration, Macular degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Retinitis Pigmentosa 35	Rod-cone dystrophy, Blindness, Nyctalopia, Cone/cone-rod dystrophy	OMIM:610282
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Central scotoma, Color vision defect, Reduced visual acuity, Bull's eye ...	OMIM:612657
Choroideremia	Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Myopia, Nyctalop...	ORPHA:180
Gyrate Atrophy Of Choroid And Retina	Progressive visual loss, Blindness, Abnormal macular morphology, Chorioretinal hyperpigmentation,...	ORPHA:414
Non-Functioning Paraganglioma	Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Tremor...	ORPHA:94080
Leber Congenital Amaurosis With Early-Onset Deafness	Sensorineural hearing impairment, Peripapillary atrophy, Reduced visual acuity, Retinal degenerat...	OMIM:617879
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebral visual impairment, Progressive external ophthalmoplegia, Progressive muscle weakness, Fa...	OMIM:610131
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Contractures of the large joints, Macrotia, Blindness, Optic atrophy, Brain atrophy, ...	ORPHA:3078
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Delirium, Drowsiness, Coma, Ataxia, Failure to thrive, Paraplegia, Loss of consciousness, Confusi...	ORPHA:927
Cerebrotendinous Xanthomatosis	Somatic sensory dysfunction, Global brain atrophy, Optic atrophy, Abnormal auditory evoked potent...	ORPHA:909
Spinocerebellar Ataxia Type 18	Gait ataxia, Somatic sensory dysfunction, Titubation, Muscle weakness, Dysmetria, Head tremor, Sk...	ORPHA:98771
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Congenital blindness, Isosexual precocious puberty, Visual acuity li...	ORPHA:2788
Retinitis Pigmentosa 54	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613428
Mannosidosis, Alpha B, Lysosomal	Gait ataxia, Spasticity, Macrotia, Sensorineural hearing impairment, Abnormal pyramidal sign, Cer...	OMIM:248500
Retinitis Pigmentosa 68	Rod-cone dystrophy, Visual field defect, Retinal atrophy, Bone spicule pigmentation of the retina...	OMIM:615725
Retinitis Pigmentosa 47	Rod-cone dystrophy, Chorioretinal atrophy, Visual impairment, Pigmentary retinopathy, Nyctalopia	OMIM:613758
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture, Elbow flexion contracture, Hypoplasia of the musculature, Progressive muscle...	ORPHA:2020
Temporal Arteritis	Retinal arteritis, Blindness	OMIM:187360
Chromosome 18Q Deletion Syndrome	Chorea, Conductive hearing impairment, Macrotia, Sensorineural hearing impairment, Optic atrophy,...	OMIM:601808
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Mitochondrial Trifunctional Protein Deficiency	Generalized muscle weakness, Tip-toe gait, Skeletal myopathy, Lower limb muscle weakness, Rhabdom...	ORPHA:746
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Gliosis, Hypertonia, Congenital contracture	OMIM:225753
Neutral Lipid Storage Disease With Ichthyosis	Small earlobe, Sensorineural hearing impairment, Short stature, Increased intramyocellular lipid ...	ORPHA:98907
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Brain atrophy, Cerebral atrophy	ORPHA:85179
Spinocerebellar Ataxia Type 13	Gait ataxia, Impaired distal vibration sensation, Optic atrophy, Short stature, Titubation, Torti...	ORPHA:98768
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Reduced visual acuity, Retinal dystrophy, Photophobia, Central scotoma, Optic disc pallor, Nyctal...	OMIM:616079
Retinitis Pigmentosa 2	Rod-cone dystrophy, Bull's eye maculopathy, Central scotoma, Chorioretinal degeneration, Pericent...	OMIM:312600
Madras Motor Neuron Disease	Sensorineural hearing impairment, Optic atrophy, Babinski sign, Distal muscle weakness, Limb fasc...	ORPHA:137867
Canavan Disease	Abnormal pyramidal sign, Blindness, Brain atrophy, Optic atrophy, Visual impairment, Opisthotonus...	OMIM:271900
Cockayne Syndrome	Somatic sensory dysfunction, Progressive visual loss, Inability to walk, Optic atrophy, Retinal a...	ORPHA:191
Retinitis Pigmentosa 79	Reduced visual acuity, Macular atrophy, Bone spicule pigmentation of the retina, Photophobia, Att...	OMIM:617460
Meningococcal Meningitis	Paresthesia, Drowsiness, Photophobia, Reduced consciousness/confusion, Lethargy, Papilledema, Hea...	ORPHA:33475
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Color vision defect, Visual impairment, Nyctalopia	OMIM:607476
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Progressive visual loss, Rod-cone dystrophy, Attenuation of r...	OMIM:613660
Allan-Herndon-Dudley Syndrome	Failure to thrive in infancy, Generalized muscle weakness, Flexion contracture, Spasticity, Ankle...	ORPHA:59
Mucopolysaccharidosis Type 3	Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ...	ORPHA:581
Ogden Syndrome	Macrotia, Shuffling gait, Torticollis, Excessive daytime somnolence, Cryptorchidism, Hypertonia, ...	ORPHA:276432
Retinitis Pigmentosa 20	Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely reduced vis...	OMIM:613794
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Retinal thinning, Reduced visual acuity, Optic disc pallor, Ataxia, Photophobia	OMIM:618970
Retinitis Pigmentosa 38	Progressive visual loss, Rod-cone dystrophy, Macular atrophy, Constriction of peripheral visual f...	OMIM:613862
Ramon Syndrome	Failure to thrive, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality o...	ORPHA:3019
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Apraxia, Myoclonus, Gait disturbance, Babinski sign, Gliosis, Caudate atrophy, Cerebr...	OMIM:221770
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Progressive night blindness, Visual impairment, Truncal obesi...	ORPHA:75858
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Basal ganglia gliosis, Brain atrophy, Limb dyston...	OMIM:604377
Retinitis Pigmentosa 61	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614180
Biotinidase Deficiency	Nonprogressive visual loss, Sensorineural hearing impairment, Optic atrophy, Scotoma, Ataxia, Spa...	ORPHA:79241
Retinitis Pigmentosa 63	Blurred vision, Rod-cone dystrophy, Nyctalopia, Optic disc pallor	OMIM:614494
Retinitis Pigmentosa 7	Rod-cone dystrophy, Attenuation of retinal blood vessels, Constriction of peripheral visual field...	OMIM:608133
Pelizaeus-Merzbacher Disease	Global brain atrophy, Abnormal pyramidal sign, Cerebellar vermis atrophy, Reduction of oligodendr...	OMIM:312080
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Exaggerated star...	ORPHA:320406
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment, Small hypothenar eminence, Small thenar eminence	ORPHA:3246
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Small for gestational age, Cerebellar atrophy, Gliosis, Hypertonia, Intrauterine grow...	OMIM:615095
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke...	ORPHA:320401
Retinitis Pigmentosa 50	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Retinal flecks, Reti...	OMIM:613194
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Gait imbalance, Rhabdomyolysis, Short stature, Muscle weakness, Ankle flexion contracture, Lethargy	OMIM:618120
Christianson Syndrome	Gait ataxia, Macrotia, Decreased muscle mass, Cerebral cortical atrophy, Ophthalmoplegia, Truncal...	ORPHA:85278
Retinitis Pigmentosa 17	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Color vision defect, Photophobia, Ny...	OMIM:600852
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Retinopathy, Gliosis, Lower limb spasticity	OMIM:615119
Smith-Magenis Syndrome	Conductive hearing impairment, Precocious puberty, Short stature, Gait disturbance, Impaired pain...	ORPHA:819
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears, Hyp...	OMIM:618672
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Poor fine motor coordination, Progressive visual loss, Macrotia, Rod-cone dystrophy, Undetectable...	ORPHA:436245
Tbck-Related Intellectual Disability Syndrome	Global brain atrophy, Diastasis recti, Sensorineural hearing impairment, Decreased response to gr...	ORPHA:488632
Leber Congenital Amaurosis 16	Optic disc pallor, Visual field defect, Photophobia, Visual impairment, Reduced visual acuity, Ny...	OMIM:614186
Multiple Synostoses Syndrome	Conductive hearing impairment	ORPHA:3237
Primary Angiitis Of The Central Nervous System	Diplopia, Pseudopapilledema, Parkinsonism, Hemiparesis, Blurred vision, Paraparesis, Paralysis, A...	ORPHA:140989
Spastic Paraplegia 15, Autosomal Recessive	Lower limb muscle weakness, Spastic gait, Retinal degeneration, Macular degeneration, Ataxia, Spa...	OMIM:270700
Primary Non-Essential Cutis Verticis Gyrata	Reduced visual acuity, Abnormality of pattern visual evoked potentials, Gliosis	ORPHA:357225
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Blindness, Cone/cone-rod dystrophy, Bone spicule pigmentation...	OMIM:120970
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Gait ataxia, Spasticity, Ambiguous genitalia, Blindness, Optic atrophy, Diffuse cerebral atrophy,...	ORPHA:543470
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment	ORPHA:2669
Pure Mitochondrial Myopathy	Fatigable weakness of bulbar muscles, Neck flexor weakness, Proximal muscle weakness, Rhabdomyoly...	ORPHA:254854
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Nyctalopia	ORPHA:1872
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmenta...	OMIM:300029
Progressive Multifocal Leukoencephalopathy	Gait ataxia, Oculomotor nerve palsy, Somatic sensory dysfunction, Paresthesia, Diplopia, Homonymo...	ORPHA:217260
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Scotoma, Macular atrophy, Photophobia, Myopia, Reduced visual acuity, Ny...	OMIM:610356
Alpha-Mannosidosis, Adult Form	Cerebral cortical atrophy, Subcortical cerebral atrophy, Drowsiness, Clumsiness, Macroglossia, At...	ORPHA:309288
Early Myoclonic Encephalopathy	Myoclonus, Lethargy	ORPHA:1935
Retinitis Pigmentosa 18	Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Progressive visual field defects, N...	OMIM:601414
Fleck Retina Of Kandori	Retinal flecks, Blindness, Nyctalopia	OMIM:228990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Cerebral cortical atr...	OMIM:613156
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Orthostatic hypotension due to autonomic dysfunction, Spasticity, Pseudobulbar paralysis, Ataxia,...	OMIM:169500
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Short stature, Conductive hearing impairment, Joint contracture of the 5th finger, Microtia	OMIM:248910
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Tritanomaly, Retinal dystrophy, Visual impairment, Peripheral retinal atrophy, Reduced visual acu...	OMIM:615147
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Rhabdomyolysis, Progressive muscle weakness, Muscle weakness, Failur...	ORPHA:370
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Abdominal obesity, Hearing impairment, Peripheral visual fi...	OMIM:209900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Limb-girdle muscle weakness, Rhabdomyolysis, Short stature, Pelvic girdle muscle weakness, Progre...	ORPHA:79240
Glycine Encephalopathy	Myoclonus, Lethargy	OMIM:605899
Gm2-Gangliosidosis, Ab Variant	Chorea, Exaggerated startle response, Abnormal pyramidal sign, Blindness, Paralysis, Spastic tetr...	OMIM:272750
Friedreich Ataxia	Gait ataxia, Optic atrophy, Visual field defect, Decreased amplitude of sensory action potentials...	OMIM:229300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Hypospadias, Cryptorchidism, Low-set ears, Intrauterine growth ret...	OMIM:616910
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Photophobia, Reduced visual acuity, Nyctalopia	OMIM:616502
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Ti...	ORPHA:459056
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy, Muscle weakness, Distal sensory impairment, Fasciculations	ORPHA:84142
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Chorea, Exaggerated startle response, Macrotia, Spasticity, Cerebral cortical atrophy, Inability ...	OMIM:617864
Idiopathic Camptocormia	Fatty replacement of skeletal muscle, Parkinsonism, Proximal spinal muscular atrophy, EMG: myopat...	ORPHA:1320
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Constriction of peripheral visual field, Red...	OMIM:615780
Typhoid	Coma, Ataxia, Tremor, Hypertonia, Lethargy	ORPHA:99745
Peroxisomal Acyl-Coa Oxidase Deficiency	Sensorineural hearing impairment, Optic atrophy, Gait disturbance, Failure to thrive, Hypertonia,...	ORPHA:2971
Supranuclear Palsy, Progressive, 1	Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Diplopia, Parkinsonis...	OMIM:601104
Nephronophthisis 15	Retinal degeneration, Obesity, Blindness	OMIM:614845
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Brain atrophy, Lower limb muscle weakness, Optic atrophy, Hemiparesis, Gait disturbance, Upper mo...	ORPHA:395
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Blindness, Moderate myopia, Optic atrophy, Short stature, Attenuation of reti...	OMIM:300578
Macular Dystrophy, Retinal, 4	Reduced visual acuity, Choroidal neovascularization, Reduced OCT-measured foveal thickness, Nycta...	OMIM:619977
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar vermis atrophy, Optic atrophy, Camptodactyly, Lethargy, Hearing impairment, Rod-cone d...	OMIM:614866
Migraine, Familial Hemiplegic, 3	Hemiparesis, Photophobia, Blindness, Hemiplegia	OMIM:609634
Biotinidase Deficiency	Sensorineural hearing impairment, Optic atrophy, Diffuse cerebral atrophy, Ataxia, Visual loss, D...	OMIM:253260
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Obesity, Photophobia, Bone spicule pigmentation of the ...	OMIM:613464
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Flexion contracture, Cachexia, Arthrogryposis multiplex congenita, Babinski sign, Fac...	OMIM:618186
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Confusion, Lethargy	OMIM:617900
Hydranencephaly	Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Blindness, Spastic diplegi...	ORPHA:2177
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sensorineural hearing impairment, Optic atrophy, Cone/cone-rod dystrophy, Short stature, Retinal ...	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Low-set ears, Lethargy	OMIM:610498
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cons...	OMIM:180104
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Global brain atrophy, Bilateral conductive hearing impairment, Cerebral cortical atrophy, Inabili...	OMIM:617802
3-Methylglutaconic Aciduria, Type V	Diaphragmatic eventration, Optic atrophy, Decreased testicular size, Ataxia, Muscle weakness, Fai...	OMIM:610198
Craniometaphyseal Dysplasia	Conductive hearing impairment, Sensorineural hearing impairment, Visual impairment, Abnormal cran...	ORPHA:1522
Usher Syndrome Type 2	Cerebral cortical atrophy, Hemianopia, Sensorineural hearing impairment, Subcortical cerebral atr...	ORPHA:231178
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Cone/cone-rod dystrophy, Optic atrophy, Oculomotor apraxia, Action tremor, Gli...	ORPHA:404454
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Diplopia, Ophthalmoplegia, Hemiparesis, Hem...	ORPHA:863
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Poor coordination, Gait disturbance, Failure to thrive, Cerebral atrophy	OMIM:250940
Episodic Ataxia Type 6	Diplopia, Reduced visual acuity, Ataxia, Vertigo, Hemiplegia, Slurred speech, Cerebellar atrophy,...	ORPHA:209967
Congenital Muscular Dystrophy With Cerebellar Involvement	Abnormal pyramidal sign, Proximal muscle weakness, Blindness, Optic atrophy, Congenital muscular ...	ORPHA:370959
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Sensorineural hearing impairment, External ophthalmoplegia, Ophthalmopares...	ORPHA:298
Carnitine Deficiency, Systemic Primary	Proximal muscle weakness, Coma, Reduced muscle carnitine level, Muscle weakness, Failure to thriv...	OMIM:212140
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Constriction of peripheral visual fi...	OMIM:606068
Holocarboxylase Synthetase Deficiency	Weight loss, Coma, Ataxia, Growth delay, Lethargy	ORPHA:79242
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Reduced visual acuity, Macular degeneration, Retinal pigment epithelial ...	OMIM:600977
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Aplasia/Hypoplasia of the external ear, Abnormal astrocyte morphology, Gliosis, Cereb...	ORPHA:168486
Cavitary Optic Disc Anomalies	Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia	OMIM:611543
Crouzon Syndrome	Amblyopia, Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing ...	ORPHA:207
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Rod-cone dystrophy, Bone spicule pigmentation of the retina...	OMIM:613801
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Basal ganglia gliosis, Myoclonus, Diffuse cerebral atrophy, Growth del...	OMIM:614946
Neutral Lipid Storage Myopathy	Fatty replacement of skeletal muscle, Sensorineural hearing impairment, Fasciculations, Short sta...	ORPHA:98908
Crigler-Najjar Syndrome	Lethargy, Hearing impairment, Ophthalmoparesis, Vertigo	ORPHA:205
Abetalipoproteinemia	Progressive visual loss, Upper motor neuron dysfunction, Babinski sign, Hypopigmentation of the f...	ORPHA:14
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Abnormality of retinal pigmentation, Hypertonia, Low-set, posteriorly rotated ears, Nycta...	ORPHA:1390
Radio-Tartaglia Syndrome	Conductive hearing impairment, Gait imbalance, Precocious puberty, Ataxia, Large earlobe, Tremor,...	OMIM:619312
Joubert Syndrome 35	Progressive visual loss, Rod-cone dystrophy, Oculomotor apraxia, Ataxia, Low-set ears, Nyctalopia	OMIM:618161
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Macrotia, Cerebral cortical atrophy, Delirium, Reduced visual acuity, Abnormality of extrapyramid...	OMIM:277400
Retinitis Pigmentosa 88	Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:618826
Optic Atrophy 7 With Or Without Auditory Neuropathy	Sensorineural hearing impairment, Optic atrophy, Optic disc pallor, Central scotoma, Dyschromatop...	OMIM:612989
Severe Early-Childhood-Onset Retinal Dystrophy	Blurred vision, Attenuation of retinal blood vessels, Color vision defect, Unsteady gait, Macular...	ORPHA:364055
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Lower limb muscle weakness, Weight loss, Truncal ataxia, Parkinsonism, R...	OMIM:137440
Monosomy 18Q	Bilateral conductive hearing impairment, Macrotia, Sensorineural hearing impairment, Slender buil...	ORPHA:1600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Growth delay, Cerebral atrophy, Cryptorchidism, Lethargy	OMIM:614857
Gyrate Atrophy Of Choroid And Retina	Macular thickening, Proximal muscle weakness, Blindness, Foveoschisis, Chorioretinal atrophy, Vis...	OMIM:258870
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Spastic tetraplegia, Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubati...	ORPHA:3240
Retinitis Pigmentosa 85	Rod-cone dystrophy, Reduced visual acuity, Progressive night blindness	OMIM:618345
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Progressive muscle weakness, Failure to thrive, Delayed puberty, Polycystic ovarie...	ORPHA:264580
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Obesi...	OMIM:616188
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Reduced visual acuity, Optic disc pallor, Central scotoma, Retinal detac...	OMIM:300476
Jalili Syndrome	High hypermetropia, Monochromacy, Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epi...	OMIM:217080
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Proximal muscl...	OMIM:620138
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Drowsiness, Large for gestational age, Muscle weakness, Hypoglycemic coma, Loss of consciousness,...	ORPHA:276580
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Flexion contracture, Precocious puberty, Short stature, Hypogonadism, External gen...	ORPHA:398069
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Hypogonadism, Decreased testicular size, Ataxia, Failure to thrive, Tremor, Lethargy	OMIM:201100
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa...	OMIM:608643
Secondary Syringomyelia	Somatic sensory dysfunction, Paresthesia, Fatigable weakness, Pseudobulbar paralysis, Blurred vis...	ORPHA:99857
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Retinal degeneration, Macular atrophy, Constriction of peripheral visual field, Cystoid macular d...	OMIM:267760
Kniest Dysplasia	Conductive hearing impairment, Hip contracture, Rhizomelia, Gait disturbance, Recurrent otitis me...	OMIM:156550
Developmental And Epileptic Encephalopathy 41	Spasticity, Flexion contracture, Inability to walk, Babinski sign, Tetraparesis, Cerebral atrophy...	OMIM:617105
Retinitis Pigmentosa 92	Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Pigmentary retin...	OMIM:619614
Retinitis Pigmentosa 12	High hypermetropia, Rod-cone dystrophy, Reduced visual acuity, Bone spicule pigmentation of the r...	OMIM:600105
Multiple Mitochondrial Dysfunctions Syndrome 1	Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesis, Muscle weakness, F...	OMIM:605711
Retinitis Pigmentosa 57	Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:613582
Albers-Schönberg Osteopetrosis	Blindness, Optic atrophy, Short stature, Visual impairment, Hearing impairment, Facial palsy	ORPHA:53
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Optic atrophy, Visual impairment	ORPHA:93262
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast...	OMIM:618598
Oculopharyngodistal Myopathy 1	Increased variability in muscle fiber diameter, Proximal muscle weakness, Sensorineural hearing i...	OMIM:164310
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Rod-cone dystrophy, Abnormal fundus morphology, Attenuation of retinal blood vessels, Absent reti...	ORPHA:436274
Acrootoocular Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Pseudopapilledema, Short stature...	ORPHA:2980
Supranuclear Palsy, Progressive, 2	Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Postural tremor, Akinesia, Dipl...	OMIM:609454
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen...	ORPHA:794
Parkinson Disease 1, Autosomal Dominant	Global brain atrophy, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait dis...	OMIM:168601
Optic Atrophy 8	Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Optic atrophy,...	OMIM:616648
Lethal Infantile Mitochondrial Myopathy	Lethargy, Progressive external ophthalmoplegia	ORPHA:254857

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