Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Mettl23em1(IMPC)Hmgu HOM Early adult 1.12×10-06
persistence of hyaloid vascular system Mettl23em1(IMPC)Hmgu HOM Early adult 3.02×10-11
enlarged spleen Mettl23em1(IMPC)Hmgu HOM Early adult 0.00
abnormal retina morphology Mettl23em1(IMPC)Hmgu HOM Early adult 4.53×10-18
abnormal head morphology Mettl23em1(IMPC)Hmgu HOM Early adult 2.74×10-08
increased spleen weight Mettl23em1(IMPC)Hmgu HOM Early adult 3.27×10-06
increased total retina thickness Mettl23em1(IMPC)Hmgu HOM Early adult 3.72×10-06
decreased startle reflex Mettl23em1(IMPC)Hmgu HOM   Early adult 1.39×10-05
decreased thigmotaxis Mettl23em1(IMPC)Hmgu HOM Early adult 6.10×10-10
abnormal head size Mettl23em1(IMPC)Hmgu HOM Early adult 3.86×10-10
abnormal optic disk morphology Mettl23em1(IMPC)Hmgu HOM Early adult 1.90×10-22
increased liver weight Mettl23em1(IMPC)Hmgu HOM Early adult 6.67×10-05
increased circulating unsaturated transferrin level Mettl23em1(IMPC)Hmgu HOM Early adult 3.76×10-06
decreased anxiety-related response Mettl23em1(IMPC)Hmgu HOM Early adult 8.09×10-07
increased mean platelet volume Mettl23em1(IMPC)Hmgu HOM Early adult 5.63×10-11
decreased locomotor activity Mettl23em1(IMPC)Hmgu HOM Early adult 2.45×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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
Optic atrophy, Leber optic atrophy OMIM:308905
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Loss of ambulation, Ataxia, Rod-cone dystrophy OMIM:609055
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance ORPHA:2274
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Oromandibular dystonia, Depression, Emotional lability, Tremor, Comp... ORPHA:216873
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk, Microcephaly OMIM:618572
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Loss of ambulation, Gait disturbance OMIM:615043
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Secondary microcephaly, Irritability, Depression, Macular degeneration, Progressiv... OMIM:256730
Aicardi-Goutieres Syndrome 6
Irritability, Hepatomegaly, Tremor, Microcephaly, Dystonia, Thrombocytopenia, Splenomegaly, Loss ... OMIM:615010
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Glut1 Deficiency Syndrome 2
Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly,... OMIM:612126
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ataxia, Chorioretinal coloboma ORPHA:2732
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Dystonia, Thrombocyt... ORPHA:79312
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Bradykinesia, Spastic gait, Hemidystonia, Severe temper tantrums OMIM:619052
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Motor stereotypy, Secondary microcephaly OMIM:617830
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor OMIM:165300
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Tremor, Microcephaly, Motor stereotypy, Aggressiv... OMIM:619470
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Optic disc pallor OMIM:614296
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Dysdiadochokinesis, Inten... ORPHA:98890
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:264470
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... OMIM:210250
Striatonigral Degeneration, Infantile
Optic atrophy, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Myh9-Related Disease
Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate... ORPHA:182050
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos... OMIM:607616
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Peripheral axonal neuropathy, Ataxia, Generalized dystonia, Retinal pigment ep... OMIM:619389
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Microcephaly, Retinal degeneration, Retinal pigment epit... OMIM:618889
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dystonia, Ataxia, Dysphagia ORPHA:1171
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Limb ataxia, Gait ataxia, Microcephaly, Ataxia, Retinal degeneration OMIM:614322
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Inappropriate laughter, Gait ataxia OMIM:619323
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Microcephaly OMIM:620086
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Microcephaly OMIM:611726
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Ataxia, Spastic ataxia, Gait disturbance ORPHA:2572
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Tremor, Ataxia, Aggressive behavior OMIM:300983
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Progressive cerebellar ataxia, Intention tremor, Gait ataxia, Acute hepatic failur... ORPHA:466794
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Sandhoff Disease
Splenomegaly, Hepatomegaly, Ataxia, Cherry red spot of the macula ORPHA:796
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spinocerebellar Ataxia 7
Optic atrophy, Progressive cerebellar ataxia, Macular degeneration, Tremor, Dysphagia, Dysmetria,... OMIM:164500
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Self-mutilation, Hepatomegaly, Microcephaly OMIM:300884
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Dystonia, Thrombocytopenia, Ch... ORPHA:289916
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Coloboma, Microcephaly, Lethargy OMIM:274270
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Camos Syndrome
Optic atrophy, Ataxia, Microcephaly ORPHA:83472
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, A... ORPHA:294
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Gait ataxia, Intention tremor, Dysphagia OMIM:620221
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Difficulty walking, Depression, Peripheral axonal neuropathy, Ataxia OMIM:619425
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Choreoathetosis, Microcephaly OMIM:609056
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Depression, Sensory axonal neuropathy, Dysdiadochok... ORPHA:254881
Nescav Syndrome
Optic atrophy, Inability to walk, Peripheral axonal neuropathy, Microcephaly, Ataxia OMIM:614255
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Usher Syndrome, Type Iiib
Truncal ataxia, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Elevated circulating hepatic transaminase concentration, Hepatomeg... OMIM:615673
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Leukopenia,... ORPHA:27
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ... OMIM:222470
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Splenomegaly, Hepatomegaly ORPHA:139406
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Depression, Optic neuritis, Sensory axonal neuropathy, Facial palsy,... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Steppage gait, Tremor, Decreased numb... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Retinopathy, Pigmentary retinopathy OMIM:610951
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Emotional lability, Gait ataxia, Spastic ataxia OMIM:613672
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Leber Optic Atrophy And Dystonia
Optic atrophy, Bradykinesia, Athetosis, Dystonia, Dysphagia, Leber optic atrophy OMIM:500001
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Loss of ambulation, Retinal degenera... OMIM:204200
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Ataxia, Postural tremor, Retinal vascular tortuosity ORPHA:104
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Secondary microcephaly, Inability to walk, Dysphagia, Optic disc pallor OMIM:617086
Takenouchi-Kosaki Syndrome
Optic atrophy, Progressive microcephaly, Increased mean platelet volume, Thrombocytopenia, Ataxia OMIM:616737
Trimethylaminuria
Depression, Anemia, Splenomegaly, Neutropenia OMIM:602079
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Microcephaly, Dystonia, Elevated circulating acylcarnitine concentration, Hepatic ... ORPHA:26792
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Elevated circulating tiglylglycine concentration, Restlessness, Retinal... OMIM:300438
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy, Progressive cerebellar ataxia, Depression ORPHA:411590
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Inability to walk, Retinal vascular tortuosity, Microcephaly OMIM:618768
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Gait disturbance, Ataxia, Retrobulbar optic neuritis ORPHA:3151
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Irritability, Hepatomegaly, Progressive microcephaly, Microcephaly, Dystonia, Atax... OMIM:618226
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Ataxia, Dysphagia ORPHA:329314
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia ORPHA:1068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Aggr... ORPHA:329284
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Gait disturbance, Micro... ORPHA:2585
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk ORPHA:431329
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Tremor, Gait ataxia, Hepatic bridging fibrosis, Splenomegaly, Hepatic ... OMIM:616719
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hype... OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Secondary microcephaly, Inability to walk, Athetosis, Gait disturban... OMIM:618241
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Inability to walk, Sensory axon... ORPHA:457205
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increas... OMIM:613313
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Congenital Disorder Of Glycosylation, Type Iaa
Microcephaly, Attenuation of retinal blood vessels, Optic disc pallor, Pseudobulbar paralysis OMIM:617082
Microcephaly, Amish Type
Optic atrophy, Irritability, Hepatomegaly, Hypoplasia of the fovea, Primary microcephaly OMIM:607196
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemi... OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Tremor, Abnormal optic nerve morphology, Ataxia, Aplasia/Hypopl... ORPHA:33445
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Restlessness, Primary microcephaly, Self-m... OMIM:615075
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Irritability, Loss of ability to walk in early childhood, Nonketotic hyperglycinem... ORPHA:401866
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Hypoplasia of the thymus, Increased mea... ORPHA:84064
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Anorexia, Retinal dystrophy, Megaloblastic anemia, Thrombocytopenia, Lethargy ORPHA:49827
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent fovea... OMIM:204100
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, Tremor, Retinopathy, Dystonia, Ataxia, Dysphagia, Choreoathetosis, Self-m... OMIM:619422
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Secondary microcephaly, Hepatomegaly, Elevated circulating hepatic transaminase co... OMIM:608799
Narp Syndrome
Irritability, Retinal pigment epithelial mottling, Ataxia, Progressive gait ataxia, Rod-cone dyst... ORPHA:644
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Microcephaly, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Niemann-Pick Disease, Type A
Irritability, Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Inability to walk, Bone-marr... OMIM:257200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Resting tremor, Hyperac... ORPHA:3077
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Gait disturbance, Rod-cone dystrophy, Segmental peripheral d... OMIM:311070
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Axial dystonia, Dystonia, Dysphagia, Optic disc pallor OMIM:618230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Microcephaly, Abnormality of retinal pigmentation, Chorior... OMIM:251270
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Truncal ataxia, Tremor, Gait disturbance, Ataxia, Dysph... OMIM:210000
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Sarcosinemia
Optic atrophy, Hypersarcosinemia, Emotional lability, Ataxia ORPHA:3129
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Severe Canavan Disease
Optic atrophy, Irritability, Inability to walk, Oral-pharyngeal dysphagia, Lethargy ORPHA:314911
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia ORPHA:65288
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Resting tremor, Peripheral axonal neuropathy, Microcephaly, Dy... ORPHA:401768
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Ataxia OMIM:231000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Secondary microcephaly, Inability to walk, Dystonia, Ataxia, Dysmetria OMIM:617954
Gaucher Disease Type 2
Dystonia, Splenomegaly, Dysphagia, Hepatomegaly ORPHA:77260
Merrf
Optic atrophy, Ataxia ORPHA:551
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Athetosis, Microcephaly, Dystonia, Ataxia OMIM:619310
Sialidosis Type 2
Hepatomegaly, Tremor, Ascites, Ataxia, Splenomegaly, Abnormal macular morphology ORPHA:87876
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Progressive gait ataxia, Emotional lability, Progressive cerebellar ataxia ORPHA:254343
Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Impulsivity, Acanthocytosis, Optic atrophy, Tip-toe gait, Depression, Compulsive b... ORPHA:157850
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Progressive microcephaly, Microcephaly, Thrombocytopenia, Left ventricul... OMIM:611209
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytop... ORPHA:848
Craniotelencephalic Dysplasia
Optic nerve hypoplasia OMIM:218670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Progressive ... OMIM:610333
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Decreased liver function, Tip-toe gait, Retinal dystrophy, Gait ataxia, Elevated c... OMIM:614877
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly, Abnormality of thrombocytes ORPHA:172
Mucolipidosis Iv
Optic atrophy, Abnormal abdomen morphology, Microcephaly, Dystonia, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Retinal dystrophy, Progressive microcephaly, Athetosis, Microcephaly, Ataxia OMIM:614559
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Secondar... OMIM:616881
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Ataxia, Abnormality of the autonomic nervous system ORPHA:1186
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Developmental And Epileptic Encephalopathy 47
Secondary microcephaly, Limb ataxia, Agitation, Inability to walk, Gait disturbance, Attenuation ... OMIM:617166
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen... OMIM:209950
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Emotional lability, Cessation of head growth, Gait disturbance, Unsteady gait, Let... OMIM:603896
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Pigmentary retinopathy, Gait disturbance, Attention deficit hype... ORPHA:216866
Hsd10 Disease, Infantile Type
Optic atrophy, Microcephaly, Hyperammonemia, Dystonia, Loss of ambulation, Dysphagia, Restlessnes... ORPHA:391428
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy, Falls OMIM:613341
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Irritability, Dystonia OMIM:618237
Congenital Disorder Of Glycosylation, Type Iij
Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, M... OMIM:613489
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy, Increased serum pyruvate, Hyperalaninemia, Microcephaly, Dystonia, Ataxia, Unstead... OMIM:245349
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Tremor, Facial palsy, Abn... ORPHA:97229
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Ataxia, Optic disc pallor OMIM:618970
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Babesiosis
Anorexia, Hepatomegaly, Jaundice, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolyt... ORPHA:108
Myoclonus, Intractable, Neonatal
Athetosis, Microcephaly, Impaired oral bolus formation, Dysphagia, Optic disc pallor OMIM:617235
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Coproporphyria, Hereditary
Depression, Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Unsteady gait OMIM:620312
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia,... ORPHA:158029
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Depression, Elevated circulating creatine kinase concent... OMIM:300842
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Leishmaniasis
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphade... ORPHA:507
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Cerebral cortical atrophy, Chorioretinal coloboma ORPHA:163937
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega... OMIM:267700
Cach Syndrome
Optic atrophy, Irritability, Limb ataxia, Pancreatitis, Nonketotic hyperglycinemia, Optic neuriti... ORPHA:135
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Joubert Syndrome 33
Cone/cone-rod dystrophy, Ataxia, Splenomegaly OMIM:617767
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia, Cerebellar atrophy OMIM:614306
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Sensory axonal neuropathy, Exaggerated startle response, Motor ... OMIM:609541
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Bradykinesia, Peripheral axonal neuropathy, Truncal ataxia, Episodic ataxia, Gait ... OMIM:601338
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Gait ataxia, Intention tremor, Dystonia, Choreoathetosis, Dysme... OMIM:617964
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Unsteady gait OMIM:620314
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:613101
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Abnormality of the lymphatic system, Microcephaly, Increased mean platelet volume,... ORPHA:487796
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... ORPHA:905
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Dystonia, Ataxia, Splenomegaly, Cherry red spot of the macula OMIM:230650
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pap... OMIM:607115
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia OMIM:615181
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Athetosis, Elevated circulating alanine aminotransferas... OMIM:271245
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Exaggerated startle response, De... ORPHA:320406
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Tremor, Athetosis, Dystonia, Thrombocytopenia, Ataxia, Severe temper tantrums, Rod... OMIM:617710
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Leigh Syndrome
Optic atrophy, Emotional lability, Hepatocellular necrosis, Dystonia, Ataxia, Pigmentary retinopathy OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Microcephaly, Cardiomegaly, Hyperprolinemia, Optic disc pallor OMIM:619170
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Athetosis, Dystonia, Ataxia, Self-mutilation OMIM:250950
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:99014
Farber Lipogranulomatosis
Irritability, Lipogranulomatosis, Hepatomegaly, Splenomegaly, Cherry red spot of the macula OMIM:228000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Thrombocytopenia, Ataxia, Retinal d... OMIM:249270
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Athetosis, Intention tremor, Microcephaly, Dystonia, Ataxia, Dysphagia, Loss of am... OMIM:617951
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Spastic Paraplegia 2, X-Linked
Optic atrophy, Spastic gait, Loss of ambulation, Dysmetria OMIM:312920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Mevalonic Aciduria
Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevat... OMIM:610377
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Microcephaly, Abnormality of retinal pigmentation, Thrombocytopen... ORPHA:290
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Tremor, Gait ataxia, Dysmetria OMIM:617810
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Oromandibular dystonia, Depression, Emotional lability, Tremor, Elevated circulati... OMIM:614298
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Ataxia... ORPHA:280234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration, Microcephaly OMIM:613151
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Hyperalaninemia, Microcephaly, Hyperammonemia, Dystonia, Ataxia, Rod... ORPHA:254913
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Acute hepatic failure, Splenomegal... OMIM:278000
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Secondary microcephaly, Irritability, Peripheral axonal neuropathy, Dystonia, Dysp... OMIM:615809
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
4H Leukodystrophy
Optic atrophy, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Dysphagia, Progressive gait ataxia, ... ORPHA:289494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Bradykinesia, Limb ataxia, Steppage gait, Depression, Sensory axonal neuropathy, E... OMIM:258450
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, Ataxia, Cherry red spot of the macula, Optic disc pallor OMIM:615281
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, G... ORPHA:98755
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Tremor, Impulsivity, Microcephaly, Ataxia, Unsteady gait, Atte... ORPHA:442835
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy ORPHA:228384
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Jaundice, Elevated circulating hepatic transaminase concentra... OMIM:603553
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:1451
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Intention tremor, Head titubation, Ataxia, Dysmetria OMIM:618688
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Postural tremor, Dysmetria OMIM:607694
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Visceromegaly, Hepatosplenomegaly, Cherry red spot of the macula, Dy... ORPHA:93399
Pelizaeus-Merzbacher Disease
Optic atrophy, Writer's cramp, Inability to walk, Broad-based gait, Depression, Tremor, Intention... OMIM:312080
Folinic Acid-Responsive Seizures
Optic atrophy, Irritability, Difficulty walking, Broad-based gait, Dystonia, Ataxia ORPHA:79097
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy, Torticollis, Dysphagia OMIM:619686
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Elevated circulating C-reactive pro... OMIM:308240
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port... ORPHA:824
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Idiopathic Intracranial Hypertension
Depression, Papilledema, Abnormal emotion, Lethargy ORPHA:238624
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Chronic hemolytic anemia, Redu... OMIM:266200
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Microcephaly, Throm... ORPHA:448237
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Elevated circulating phytanic acid concentration, Atax... ORPHA:772
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Shuffling gait, Gait disturbance, Dystonia, Dysphagia, Motor axonal ... ORPHA:289560
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Loss of ambulation, Secondary microcephaly OMIM:617933
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Gait disturbance, Gait ataxia, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Ch... ORPHA:225154
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gallbladder dysfunction, Emotional lability, ... OMIM:250100
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Ataxia, Left ventricular hypertrophy, Lethargy, Optic disc pallor OMIM:618228
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy, Athetosis, Hyperalaninemia, Microcephaly, Elevated circulating hexacosanoic acid c... OMIM:614388
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Neutropenia, Eleva... ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Peripheral axonal neuropathy, Abnormal autonomic nervous system physi... OMIM:610743
Mepan Syndrome
Optic atrophy, Axial dystonia, Craniofacial dystonia, Limb dystonia, Gait disturbance, Dystonia, ... ORPHA:508093
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome... OMIM:216360
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c... ORPHA:231736
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Action tremor, Microcephaly, Splenomegal... ORPHA:309854
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Agitation, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Ataxia, Splenomegaly, Hy... OMIM:619046
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Limb ataxia, Increased hepatic glycogen content, Depression, Truncal ataxia, Gait ... OMIM:619259
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Dystonia, C... ORPHA:309246
Srd5A3-Cdg
Optic atrophy, Elevated circulating hepatic transaminase concentration, Optic disc hypoplasia, Co... ORPHA:324737
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Facial palsy, Ataxia, Dysphagia, Aggressive behavior OMIM:614707
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Loss of ambulation, Dysphagia, Motor ster... ORPHA:79264
Classic Hodgkin Lymphoma
Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly ORPHA:391
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Dystonia, Microcephaly OMIM:300475
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Increased cup-to-disc... ORPHA:447788
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:619487
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Megaloblastic anemia, Abnormal autonomic nervous system physiology, Sideroblastic ... OMIM:598500
Spastic Paraplegia Type 7
Optic atrophy, Spastic gait, Dysphagia, Attention deficit hyperactivity disorder, Optic disc pallor ORPHA:99013
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Inability to walk, Tremor, Microcephaly, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Anemia, Reduced hematocrit, Hyperbilirubinemia, Anemia o... OMIM:613673
Mohr-Tranebjaerg Syndrome
Optic atrophy, Oromandibular dystonia, Inability to walk, Tremor, Shuffling gait, Absent brainste... ORPHA:52368
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Tremor, Sideroblastic anemia, Thrombocytopenia, Dysphagia, A... OMIM:222300
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Difficulty walking, Dysdiadochokinesis, Dystonia, Ataxia, Dysmetria OMIM:612319
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Tremor, Microcephaly, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Progressive microcephaly, Decreased proportion of CD4-positive T cells ORPHA:477814
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Progressive cerebellar ataxia, Prolonged neonatal jaundice, Dystonia, Dysphagia OMIM:618868
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Irritability, Hepatomegaly, Emotional lability, Tremor, Ataxia, Splenomegaly, Decreased serum zin... OMIM:201100
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Dystonia, Ataxia, Le... OMIM:535000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Athetosis, Blepharospasm, Pigmentary retinopathy, Craniofacial dystonia, Gait dist... OMIM:617282
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopeni... ORPHA:77259
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Irritability, Craniofacial dystonia, Hyperammonemia, Loss of ambulation, Dysphagia... OMIM:618253
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, H... OMIM:259720
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Optic nerve hypoplasia OMIM:620502
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Spinocerebellar Ataxia Type 13
Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Titubation, Gait ataxi... ORPHA:98768
Alpha-Mannosidosis, Adult Form
Pancytopenia, Depression, Hepatosplenomegaly, Ataxia, Optic disc pallor ORPHA:309288
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Peripheral axonal neuropathy, Emotional lability, Abnormal autonomi... ORPHA:35069
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Jaundice, Hepatomegaly, Neutropenia, Hemophagocytosis, Anemi... OMIM:214500
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ... ORPHA:158061
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Spinocerebellar Ataxia, Autosomal Recessive 18
Truncal ataxia, Dysdiadochokinesis, Optic disc pallor, Gait ataxia, Ataxia, Dysmetria OMIM:616204
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Microcephaly OMIM:617864
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Hepatomegaly, Optic disc pallor OMIM:613730
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Spastic gait, Dysdiadochokinesis, Waddling gait, Gait ataxia, Dysphagia, Spastic a... OMIM:607259
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... OMIM:602347
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Bradykinesia, Akinesia, Hyperactivity, Depression, Tre... OMIM:234200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Sensory axonal neuropathy, Facial palsy, Intention tremor, Head titubation, Dyston... OMIM:608804
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Abnormal erythrocyte morphology, Depression, Elevated circulating cr... ORPHA:96180
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Broad-based gait, Gait ataxia, Microcephaly, Dystonia, Motor s... OMIM:617807
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Cerebellar atrophy ORPHA:496790
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Aggressive behavior, Retinal detachment, Microcephaly, Chorioretinal la... OMIM:152950
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ... OMIM:226990
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Hyperalaninemia, Gait disturbance, Ataxia, Loss of ambulation, Elevated circulating acylc... OMIM:615838
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro... OMIM:615512
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Dysdiadochokinesis, Optic di... ORPHA:363429
Dpm1-Cdg
Optic atrophy, Secondary microcephaly, Hepatomegaly, Elevated circulating hepatic transaminase co... ORPHA:79322
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Inability to walk, Hyperalaninemia, Microcephaly, Hyperammonemia, Dystonia OMIM:614739
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Microcephaly, Thrombocytopenia, Ataxia, Macrothrombocytopenia... OMIM:603585
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cherry red s... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hyperalaninemia, Ascites, Hyperammonemia, Dystonia, Cardiomegaly OMIM:614702
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ... ORPHA:381
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp... OMIM:616050
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Microcephaly, Aggressive behavior ORPHA:369939
Friedreich Ataxia
Optic atrophy, Limb ataxia, Gait imbalance, Inability to walk, Falls, Sensory axonal neuropathy, ... ORPHA:95
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Anemia, Pancytopenia, Cranial nerve compression, Hepatosplenomegaly, Facial paraly... OMIM:259710
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Macular atrophy, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Hepatic fibrosis, Splenomegaly, Retinal degeneration, Hepatic failure OMIM:615630
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Facial palsy, Thrombocytopenia, ... OMIM:259700
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... OMIM:612840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Hepatomegaly, Sea-blue histiocytosis, Gait disturbance, Ataxia, Splenomegaly, Dysp... OMIM:230600
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase co... OMIM:610198
Joubert Syndrome 28
Ataxia, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Arts Syndrome
Optic atrophy, Ataxia, Dysphagia OMIM:301835
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Microcephaly, Ataxia, Motor stereotypy ORPHA:530983
Hyperlysinemia, Type I
Optic nerve hypoplasia OMIM:238700
Niemann-Pick Disease, Type C1
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau... OMIM:257220
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Intention tremor, Ataxia, Rod-cone dystrophy,... OMIM:612674
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly, Cherry r... OMIM:268800
Tay-Sachs Disease
Optic atrophy, Inability to walk, Depression, Increased serum beta-hexosaminidase, Tremor, Exagge... ORPHA:845
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...