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Gene: Mettl23 MGI:1921569

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Gene Summary

Name:
methyltransferase like 23
Synonyms:
1500035B17Rik,  1110005A03Rik,  4933424L15Rik

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
increased total retina thickness Mettl23em1(IMPC)Hmgu HOM Early adult 5.01×10-06
abnormal retina morphology Mettl23em1(IMPC)Hmgu HOM Early adult 1.12×10-18
abnormal behavior Mettl23em1(IMPC)Hmgu HOM Early adult 4.24×10-06
persistence of hyaloid vascular system Mettl23em1(IMPC)Hmgu HOM Early adult 2.37×10-10
abnormal head morphology Mettl23em1(IMPC)Hmgu HOM Early adult 4.01×10-08
abnormal optic disk morphology Mettl23em1(IMPC)Hmgu HOM Early adult 1.27×10-21
increased circulating unsaturated transferrin level Mettl23em1(IMPC)Hmgu HOM Early adult 3.76×10-06
decreased thigmotaxis Mettl23em1(IMPC)Hmgu HOM Early adult 9.82×10-10
decreased startle reflex Mettl23em1(IMPC)Hmgu HOM   Early adult 1.39×10-05
increased spleen weight Mettl23em1(IMPC)Hmgu HOM Early adult 1.74×10-06
enlarged spleen Mettl23em1(IMPC)Hmgu HOM Early adult 0.00
abnormal head size Mettl23em1(IMPC)Hmgu HOM Early adult 5.50×10-10
decreased locomotor activity Mettl23em1(IMPC)Hmgu HOM Early adult 2.15×10-05
increased mean platelet volume Mettl23em1(IMPC)Hmgu HOM Early adult 5.63×10-11
decreased anxiety-related response Mettl23em1(IMPC)Hmgu HOM Early adult 1.15×10-06

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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

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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Human diseases caused by Mettl23 mutations

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

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

The table below shows human diseases associated to Mettl23 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 44
OMIM:615942

The table below shows human diseases predicted to be associated to Mettl23 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy, Ataxia, Loss of ambulation, Vacuolated lymphocytes OMIM:609055
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly ORPHA:2274
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Spastic Ataxia 7, Autosomal Dominant
Dysdiadochokinesis, Spastic ataxia, Optic atrophy OMIM:108650
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy OMIM:136600
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Difficulty walking, Optic atrophy OMIM:617087
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Microcephaly, Optic atrophy OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Ataxia, Progressive microcephaly, Seco... OMIM:256730
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Inertia, Optic atrophy, Limb dystonia, Gait disturbance, Emotional lability, Violent... ORPHA:216873
Spastic Paraplegia 43, Autosomal Recessive
Loss of ambulation, Gait disturbance, Optic atrophy OMIM:615043
Wolfram-Like Syndrome, Autosomal Dominant
Depression, Optic disc pallor, Optic atrophy, Anxiety OMIM:614296
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Chorioretinal coloboma, Optic atrophy ORPHA:2732
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Microcephaly OMIM:614322
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Optic atrophy, Dysdiadochokinesis, Choreoathetosis, Emotional lability, Decreased ne... ORPHA:98890
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Inappropriate crying, Inappropriate laughter, Optic atrophy OMIM:619323
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy OMIM:165300
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Tremor, Ir... OMIM:612126
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Spasticity, Childhood-Onset, With Hyperglycinemia
Gait disturbance, Hyperglycinemia, Optic atrophy, Spastic ataxia OMIM:616859
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Tremor, Microcephaly, Hepatomegaly, Thrombocytopenia, Irrit... OMIM:615010
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Loss of ambulation... OMIM:204200
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Optic Atrophy 5
Optic atrophy OMIM:610708
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Retinal dystrophy, Optic atrophy OMIM:614706
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retin... OMIM:618889
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Ataxia, Peripheral axonal neuropathy, Difficulty walking, Depression, Anxiety OMIM:619425
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Optic disc pallor, Retinal pigment epithelial mottling, Ataxia, Peripheral axo... OMIM:619389
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Impaired pla... OMIM:210250
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Optic atrophy, Tremor, Microcephaly, Broad-based gait OMIM:619470
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Retinal thinning, Anxiety OMIM:618970
Bernard-Soulier Syndrome
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... OMIM:231200
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Microcephaly, Optic atrophy OMIM:620086
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Myh9-Related Disease
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... ORPHA:182050
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Ataxia, Spastic ataxia, Optic atrophy ORPHA:2572
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Microcephaly, Optic atrophy OMIM:611726
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Optic disc hypoplasia, Optic nerve hypoplasia, Chorioretinal coloboma, Periphe... ORPHA:137902
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Camos Syndrome
Ataxia, Microcephaly, Optic atrophy ORPHA:83472
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Increased LDL cholesterol concentrat... OMIM:607616
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Inability to walk, Optic atrophy OMIM:617830
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Bradykinesia, Spastic gait, Optic atrophy OMIM:619052
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Optic atrophy, Pancreatitis, Choreoathetosis, Hyperammonemia, Hepatomegaly, Lethargy, Thr... ORPHA:79312
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Optic atrophy, Diffuse hepatic steatosis, Hepatomegaly, Irritability, Dystoni... OMIM:264470
Spastic Ataxia 4, Autosomal Recessive
Gait ataxia, Spastic ataxia, Optic atrophy, Limb ataxia, Emotional lability OMIM:613672
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Irritability, Microcephaly, Optic atrophy OMIM:609056
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Leber Hereditary Optic Neuropathy
Postural tremor, Optic atrophy, Retinal vascular tortuosity, Ataxia, Retinal telangiectasia ORPHA:104
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Aggressive behavior, Optic atrophy OMIM:300983
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia OMIM:615113
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Striatonigral Degeneration, Infantile
Choreoathetosis, Dystonia, Optic atrophy OMIM:271930
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Shuffling gait, Optic atrophy, Ataxia, Elevated circulating creatine... ORPHA:254886
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, Splenomegaly OMIM:602271
Nescav Syndrome
Inability to walk, Optic atrophy, Ataxia, Peripheral axonal neuropathy, Microcephaly OMIM:614255
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Gait disturbance, Ataxia, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Takenouchi-Kosaki Syndrome
Optic atrophy, Ataxia, Progressive microcephaly, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Depression OMIM:602079
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Optic atrophy, Choreoathetosis, Hyperammonemia, Hepatomegaly, Lethargy, Thrombocytopenia,... ORPHA:289916
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Inability to walk, Microcephaly, Optic atrophy OMIM:618768
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... OMIM:616648
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Dystonia, Optic atrophy ORPHA:385
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology, Tremor, Dystoni... ORPHA:329284
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Developmental And Epileptic Encephalopathy 16
Secondary microcephaly, Dystonia, Microcephaly, Optic atrophy OMIM:615338
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Dystonia, Optic atrophy ORPHA:1171
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Hepatic fibrosis, Optic atrophy, Hepatosplenomegaly, Progressive cerebellar ataxia, ... ORPHA:466794
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Depression, Ataxia, Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk ORPHA:431329
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Inability to walk, Sensory axonal neuropathy, Decreased n... ORPHA:457205
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Hepatic steatosis, Microcephaly,... ORPHA:26792
Sandhoff Disease
Ataxia, Splenomegaly, Cherry red spot of the macula, Hepatomegaly ORPHA:796
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Dysmetria, Tremor, Progressive cerebellar ataxia, Pigmentary... OMIM:164500
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Eye poking, Fundus atrophy, Optic disc pallor, Pigmentary r... OMIM:204100
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Aplasia/Hypoplasia of the macula, Ataxia, Tremor, Abnormal optic nerve morphology,... ORPHA:33445
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Irritability, Gait disturbance, Loss of ambulation, Secondary m... OMIM:618241
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Optic atrophy, Choreoathetosis, Ataxia, Hyperammonemia, Macrocytic anemia, He... ORPHA:27
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Usher Syndrome, Type Iiib
Truncal ataxia, Optic disc pallor, Ataxia OMIM:614504
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Leigh Syndrome With Leukodystrophy
Anemia, Optic atrophy, Emotional lability, Progressive cerebellar ataxia, Dystonia, Pigmentary re... ORPHA:255241
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Coloboma, Optic atrophy, Microcephaly OMIM:274270
Osteopetrosis, Autosomal Recessive 8
Anemia, Optic atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy OMIM:615085
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Cln3 Disease
Aggressive behavior, Shuffling gait, Optic atrophy, Left ventricular hypertrophy, Bull's eye macu... ORPHA:228346
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy, Depression, Anxiety, Progressive cerebellar ataxia ORPHA:411590
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Gait disturbance, Segmental peripheral d... OMIM:311070
Sarcosinemia
Emotional lability, Ataxia, Hypersarcosinemia, Optic atrophy ORPHA:3129
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Gait d... ORPHA:2585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Microcephaly, Chorioretinal... OMIM:251270
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Hepatic fibrosis, Increased serum iron, Abnormality of iron homeostasis, Cirr... OMIM:222470
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia ORPHA:254343
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Osteopetrosis, Autosomal Recessive 4
Anemia, Optic atrophy, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Optic disc pallor, Spleno... OMIM:611490
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Drusen OMIM:618632
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hsd10 Mitochondrial Disease
Aggressive behavior, Optic atrophy, Retinal degeneration, Choreoathetosis, Elevated circulating t... OMIM:300438
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Merrf
Ataxia, Optic atrophy ORPHA:551
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Narp Syndrome
Rod-cone dystrophy, Progressive gait ataxia, Retinal pigment epithelial mottling, Retinal arterio... ORPHA:644
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy, Athetosis, Dystonia, Bradykinesia OMIM:500001
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia ORPHA:330050
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Irritability, Ataxia, Progressive microcephaly, Microcephaly, Hepatomegaly, Lethar... OMIM:618226
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Multiple Mitochondrial Dysfunctions Syndrome 6
Inability to walk, Optic atrophy, Ataxia, Dysmetria, Secondary microcephaly, Dystonia OMIM:617954
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy, Ataxia, Progressive microcephaly, Microcephaly, Athetosis OMIM:614559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Loss of ability to walk in early childhood, Left ventricular hypertrophy, Ataxia, ... ORPHA:401866
Severe Canavan Disease
Lethargy, Irritability, Optic atrophy, Inability to walk ORPHA:314911
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentration, Hem... OMIM:603552
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gait disturbance, Cessation of head growth, Emotional lability, Unsteady gait, Let... OMIM:603896
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Intention tremor, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Spl... OMIM:610539
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Secondary microcephaly, Optic disc pallor, Optic atrophy, Inability to walk OMIM:617086
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Lathosterolosis
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Anisopo... OMIM:607330
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Hyperalaninemia, Optic atrophy, Ataxia, Increased serum pyruvate, Microcephaly, Unsteady gait, Dy... OMIM:245349
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Ataxia, Microcephaly, Athetosis, Dystonia OMIM:619310
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Aggressive behavior, Optic atrophy, Primary microcephaly, Self-mutil... OMIM:615075
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Optic atrophy, Choreoathetosis, Ataxia, Elevated circulating creatine kinase conc... OMIM:615673
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Progressive microcephaly, Microcephaly, Giant platelets, Th... OMIM:611209
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Optic atrophy, Choreoathetosis, Ataxia, Tremor, Dystonia, Self-mutilation OMIM:619422
Canavan Disease
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor, Falls OMIM:613341
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Developmental And Epileptic Encephalopathy 61
Secondary microcephaly, Loss of ambulation, Optic atrophy OMIM:617933
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Optic atrophy, Ataxia, Elevated circulating creatine ki... OMIM:608799
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia, Secondary microcephaly, Prolonged brainstem ... OMIM:616881
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked potential... ORPHA:98755
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... ORPHA:1215
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Dystonia, Optic atrophy OMIM:618237
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Peripheral axonal neuropa... ORPHA:401768
Riboflavin Transporter Deficiency
Aggressive behavior, Abnormal autonomic nervous system physiology, Ataxia, Tremor, Abnormal crani... ORPHA:97229
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of iron homeostasis, Abnormali... ORPHA:84064
Coproporphyria, Hereditary
Anxiety, Jaundice, Hepatomegaly, Depression, Splenomegaly OMIM:121300
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Microcephaly, Amish Type
Optic atrophy, Primary microcephaly, Hypoplasia of the fovea, Hepatomegaly, Irritability OMIM:607196
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Hsd10 Disease
Optic atrophy, Choreoathetosis, Gait disturbance, Ataxia, Tremor, Microcephaly ORPHA:391417
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Inability to walk, Sensory ... OMIM:609541
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Abnormal abdomen morphology, Microcephaly, Dystonia OMIM:252650
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Depression, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614306
Craniotelencephalic Dysplasia
Optic nerve hypoplasia OMIM:218670
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Ataxia, Athetosis, Dystonia, Self-mutilation OMIM:250950
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... OMIM:300476
Cach Syndrome
Optic atrophy, Truncal ataxia, Apathy, Limb ataxia, Hepatosplenomegaly, Optic neuritis, Dysmetria... ORPHA:135
Aceruloplasminemia
Blepharospasm, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased serum iron,... ORPHA:48818
Leukodystrophy, Hypomyelinating, 16
Gait ataxia, Shuffling gait, Choreoathetosis, Broad-based gait, Dysmetria, Optic disc pallor, Dys... OMIM:617964
X-Linked Intellectual Disability, Najm Type
Cerebral cortical atrophy, Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia ORPHA:163937
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Optic atrophy ORPHA:85297
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Optic atrophy, Retinal dystrophy, Thrombocytopenia, Lethargy ORPHA:49827
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Joubert Syndrome 33
Ataxia, Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia OMIM:615181
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Gait disturbance, Ataxia, Tremor ORPHA:99014
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Abnormality of the lymphatic system, Microcephaly, Thrombocytopenia, Increased mea... ORPHA:487796
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop... ORPHA:320406
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Sideroblastic anemia, Ataxia, Thiam... OMIM:249270
Spastic Paraplegia 2, X-Linked
Dysmetria, Loss of ambulation, Spastic gait, Optic atrophy OMIM:312920
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Cherry red spot of the macula, Prolonged neonatal jaundice, Inability to ... OMIM:257200
Behr Syndrome
Optic atrophy, Hypoplastic optic chiasm, Truncal ataxia, Gait disturbance, Ataxia, Sensory axonal... OMIM:210000
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Null Syndrome
Abnormality of peripheral nerve conduction, Inability to walk, Optic atrophy, Ataxia, Decreased n... ORPHA:280234
Optic Atrophy 11
Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Mildly elevated creatine kinase, Fac... OMIM:617302
Hemochromatosis, Type 2B
Anemia, Increased serum iron, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Incre... OMIM:613313
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anx... ORPHA:309246
Optic Atrophy 6
Optic atrophy OMIM:258500
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... OMIM:607115
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholestasis, Hepatomegaly,... OMIM:620010
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia OMIM:616732
Mcleod Syndrome
Reduced haptoglobin level, Motor axonal neuropathy, Elevated circulating creatine kinase concentr... OMIM:300842
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Gait ataxia, Optic atrophy, Truncal ataxia, Episodic ataxia, Ataxia, Dysmetria, Peripheral axonal... OMIM:601338
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Sialidosis Type 2
Abnormal macular morphology, Ataxia, Tremor, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Emotional lability, Ataxia, Dystonia, Pigmentary retinopathy OMIM:256000
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Optic disc pallor, Irritability, Cherry red spot of the macula OMIM:615281
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Tremor, Hepatomegaly, Sple... OMIM:616719
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Rod-cone dystrophy, Aggressive behavior, Optic atrophy, Ataxia, Dysmetria, Tremor, Thrombocytopen... OMIM:617710
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Ataxia, Dysmetria, Head titubation, Intention tremor OMIM:618688
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Optic atrophy OMIM:618228
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Optic atrophy, Inability to walk, Dysmetria, Tremor OMIM:617810
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Choreoath... ORPHA:391428
Neurodegeneration With Brain Iron Accumulation 4
Motor axonal neuropathy, Optic atrophy, Gait disturbance, Emotional lability, Elevated circulatin... OMIM:614298
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Tip-toe gait, Optic atrophy, Retinal degeneration, Limb dystonia, Choreoathet... ORPHA:157850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Microcephaly, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Gait ataxia, Optic atrophy, Truncal ataxia, Limb ataxia, Emotional lability, Mildly elevated crea... OMIM:258450
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Peroxisome Biogenesis Disorder 8B
Gait ataxia, Tip-toe gait, Optic atrophy, Elevated circulating phytanic acid concentration, Retin... OMIM:614877
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Hyperprolinemia, Microcephaly, Cardiomegaly, Optic disc pallor OMIM:619170
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... ORPHA:848
Pelizaeus-Merzbacher Disease
Optic atrophy, Inability to walk, Writer's cramp, Apathy, Choreoathetosis, Ataxia, Broad-based ga... OMIM:312080
Idiopathic Intracranial Hypertension
Lethargy, Papilledema, Depression, Abnormal emotion/affect behavior ORPHA:238624
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Progressive microcephaly, Hepatomegaly, Thrombocytopenia, Dysto... OMIM:610333
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia ORPHA:3198
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dystonia, Pancreatitis OMIM:618230
Zika Virus Disease
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... ORPHA:448237
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Hepatosp... OMIM:616828
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, ... ORPHA:231736
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Dysmetria, Vestibular areflexia, Progressive cere... ORPHA:504476
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Folinic Acid-Responsive Seizures
Optic atrophy, Ataxia, Difficulty walking, Irritability, Dystonia, Broad-based gait ORPHA:79097
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Optic disc pallor, Ne... ORPHA:447788
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Spastic gait, Optic atrophy, Abnormal circulating cholesterol concentration, Lim... OMIM:270800
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia,... ORPHA:158029
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system physiology, Sideroblastic ... OMIM:598500
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Optic nerve hypoplasia ORPHA:228384
Developmental And Epileptic Encephalopathy 93
Inability to walk, Optic atrophy, Gait disturbance, Iris coloboma, Microcephaly OMIM:618012
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Optic atrophy, Inability to wa... ORPHA:845
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Leth... OMIM:602390
Metachromatic Leukodystrophy
Optic atrophy, Gait disturbance, Emotional lability, Ataxia, Cholecystitis, Decreased nerve condu... OMIM:250100
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Microcephaly, Optic atrophy OMIM:300475
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Ataxia, Depression, Anxiety, Optic disc pallor ORPHA:309288
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Aggressive behavior, Optic atrophy, Facial palsy OMIM:614707
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysdiadochokinesis, Optic atrophy, Ataxia, Dysmetria, Difficulty walking, Dystonia OMIM:612319
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Emotional lability, Loss of ambulation, Depression, Anxiety, Optic disc pal... ORPHA:79264
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... OMIM:535000
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Secondary microcephaly, Peripheral axonal neuropathy, Irritability, Dystonia OMIM:615809
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Choreoathetosis, Ataxia, Tremor, Microcephaly, Dystonia OMIM:612438
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Hyperalaninemia, Optic atrophy, Self-biting, Athetosis, Microcephaly, Optic disc pallor, Elevated... OMIM:614388
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Mevalonic Aciduria
Anemia, Attenuation of retinal blood vessels, Hepatosplenomegaly, Elevated circulating creatine k... OMIM:610377
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Ataxia, Microcephaly, Hepatomegaly, Irritability, Splenomegaly OMIM:613489
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Ataxia, Attenuation of retinal blood vessels, S... OMIM:617166
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Optic atrophy, Spastic gait, Ataxia,... ORPHA:96180
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Optic atrophy, Happy demeanor, Difficulty walking, Microcephaly, Dystonia, Broad-bas... OMIM:617807
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Congenital Rubella Syndrome
Anemia, Jaundice, Abnormality of retinal pigmentation, Microcephaly, Hepatomegaly, Thrombocytopen... ORPHA:290
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... OMIM:616689
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetria, Optic disc pallor OMIM:616204
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Decreased motor nerve conduction velocity, Choreoathetosis, Ataxia, Sensory axonal... OMIM:608804
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Iris coloboma, Chorioretinal coloboma, Optic atrophy ORPHA:1473
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Tip-toe gait, Inability to walk, Optic disc pallor, Gait disturbance, Opistho... ORPHA:216866
Cinca Syndrome
Abnormality of thrombocytes, Anemia, Pseudopapilledema, Abnormal granulocyte morphology, Abnormal... ORPHA:1451
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Optic atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Increased hepa... OMIM:619259
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Irritability, Splenomegaly, Cherry red spot of the macula OMIM:228000
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Ataxia, Loss of ambulation, Microcephaly, Athetosis, Dystonia, Intention tremor OMIM:617951
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:615838
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Irritability, Pancytopenia, Hepatospleno... OMIM:603553
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Wilson Disease
Anemia, Aggressive behavior, Cirrhosis, Hepatitis, Hypersexuality, Jaundice, Hepatic steatosis, A... ORPHA:905
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia, Optic atrophy, Loss of ambulation, Hyperammonemia, Craniofacial dystonia, Irritability OMIM:618253
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Optic nerve hypoplasia, Microcephaly, Irritability OMIM:617864
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Mildly elevated creatine kinase, Dysmetria, Tremor, Difficulty walking, Depre... ORPHA:502423
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Microcephaly, Thrombocytopenia... OMIM:603585
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Progressive gait ataxia, Progressive truncal ataxia, Dysmetria, Difficulty wa... ORPHA:363429
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Elevated circulating phytanic acid concentration, Ataxia, Hepa... ORPHA:772
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Ataxia, Dysmetria, Decreased nerve conduction velocity, Intent... OMIM:612674
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... OMIM:616278
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Optic atrophy, Ataxia, Dysmetria, Tremor, Loss of ambulation, Dystonia OMIM:607694
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Ataxia OMIM:617121
Oculocutaneous Albinism Type 1
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... ORPHA:352731
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Ataxia, Microcytic anemia ORPHA:324737
Chediak-Higashi Syndrome
Leukopenia, Anemia, Ocular albinism, Macular hypoplasia, Jaundice, Gait disturbance, Ataxia, Gian... OMIM:214500
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Depression, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... OMIM:609033
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Axonal degeneration/... OMIM:601152
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Neuronal loss in central nervous system, ... OMIM:256600
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Wolfram Syndrome 1
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ataxia, Tremor, Thrombocytopenia, Pigm... OMIM:222300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Emotional lability, Ataxia, Tremor, Hepatomegaly, Lethargy, Irritability, Splenomegaly, Decreased... OMIM:201100
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Inability to walk, Hyperammonemia, Microcephaly, Dystonia OMIM:614739
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Mepan Syndrome
Optic atrophy, Limb dystonia, Hemidystonia, Gait disturbance, Ataxia, Axial dystonia, Craniofacia... ORPHA:508093
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Ataxia, Loss of ambulation, Dystonia ORPHA:225154
Osteopetrosis, Autosomal Recessive 5
Anemia, Optic atrophy, Hyperbilirubinemia, Irritability, Pancytopenia, Hepatosplenomegaly, Hypoch... OMIM:259720
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Mitochondrial Membrane Protein-Associated Neurodegeneration
Shuffling gait, Motor axonal neuropathy, Optic atrophy, Hand tremor, Gait disturbance, Dystonia, ... ORPHA:289560
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Stt3B-Cdg
Thrombocytopenia, Microcephaly, Optic atrophy ORPHA:370924
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Aggressive behavior, Optic atrophy, Microcephaly, Chorioretinal dysplasia, Retinal ... OMIM:152950
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Optic atrophy, Progressive gait ataxia, Bipolar affective disorder, Loss of ambulation, De... ORPHA:329308
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Ataxia, Iris coloboma, Microcephaly ORPHA:869
Osteopetrosis, Autosomal Recessive 2
Anemia, Cranial nerve compression, Optic atrophy, Pancytopenia, Hepatosplenomegaly, Facial paraly... OMIM:259710
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... OMIM:613011
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nervous system phys... ORPHA:35069
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Hyperammonemia, Cardiomegaly, Ascites, Dystonia OMIM:614702
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatom... OMIM:207750
Triosephosphate Isomerase Deficiency
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Tremor, U... OMIM:615512
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Microcephaly, Optic atrophy OMIM:615597
Aicardi-Goutieres Syndrome 9
Anemia, Hepatic fibrosis, Hemolytic anemia, Optic atrophy, Left ventricular hypertrophy, Hepatosp... OMIM:619487
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Microcephaly, Optic atrophy ORPHA:369939
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hyperlipidemia, Hepatomegaly, Splenomega... OMIM:214900
Tangier Disease
Peripheral demyelination, Left ventricular hypertrophy, Facial diplegia, Decreased HDL cholestero... OMIM:205400
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Optic disc pallor, Gait disturbance, Ataxia, Loss of ambulation, Cr... OMIM:617282
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Tip-toe gait, Optic atrophy, Progressive gait ataxia, Emotional lability, Cholecysti... ORPHA:309256
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia OMIM:614833
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Cervical l... OMIM:617718
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Coloboma, Intrahepatic bile duct dilatation, Abnormal abdomen morpho... OMIM:216360
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia ORPHA:401777
Osteopetrosis, Autosomal Recessive 1
Anemia, Optic atrophy, Pancytopenia, Thrombocytopenia, Facial paralysis, Hepatomegaly, Hypocalcem... OMIM:259700
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Inability to walk, Choreoathetosis, Tremor, Microcephaly, Dystonia OMIM:617664
Spinocerebellar Ataxia Type 13
Gait ataxia, Optic atrophy, Titubation, Torticollis, Limb ataxia, Difficulty walking, Optic disc ... ORPHA:98768
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... ORPHA:64743
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Optic atrophy, Inability to walk, Shuffling gait,... ORPHA:52368
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, D... ORPHA:309854
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Trichothiodystrophy 5, Nonphotosensitive
Global brain atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:300953
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Juvenile Sialidosis Type 2
Optic atrophy, Ataxia, Hepatosplenomegaly, Dysmetria, Loss of ambulation, Visceromegaly, Hepatome... ORPHA:93399
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Optic atrophy, Gait ataxia OMIM:618800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Optic disc pallor, Hepatomegaly OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 28
Hyperalaninemia, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Optic neuropathy, Opti... OMIM:618249
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Ataxia, Abnormality of... ORPHA:381
Friedreich Ataxia
Gait ataxia, Gait imbalance, Falls, Impaired visually enhanced vestibulo-ocular reflex, Optic atr... ORPHA:95
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Gaucher Disease, Type I
Anemia, Hypersplenism, Macular atrophy, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:230800
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Optic atrophy, Pancytopenia, Elevated circulating creatine kinase concentration, Chole... OMIM:614576
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... ORPHA:158061
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Progressive gait ataxia, Emotional lability, Cholecystitis, Decreased nerve conduc... ORPHA:309263
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:85284
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Optic atrophy, Inability to walk, Chorioretinal hypopigmentation, Enlarged ki... OMIM:617303
Sandhoff Disease
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, ... OMIM:268800
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocyt... OMIM:612840
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal ... ORPHA:423479
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprote... ORPHA:95433
Spastic Paraplegia 79B, Autosomal Recessive
Postural tremor, Optic atrophy, Ataxia, Dysmetria, Loss of ambulation, Head titubation, Opto-chia... OMIM:615491
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Optic atrophy, Ataxia, Nonprogr... OMIM:610198
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, M... ORPHA:585
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Spinocerebellar Ataxia 13
Gait ataxia, Optic atrophy, Limb ataxia, Limb dysmetria, Progressive cerebellar ataxia OMIM:605259
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia OMIM:607597
Sandhoff Disease, Infantile Form
Exaggerated startle response, Cherry red spot of the macula, Hepatosplenomegaly ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response, Apathy, Cherry red spot of the macula OMIM:272800
Mitochondrial Complex I Deficiency, Nuclear Type 27
Ataxia, Optic atrophy OMIM:618248
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Progressive gait ataxia, Emo... ORPHA:309271
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Retinitis Pigmentosa 49