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Gene: Mettl23 MGI:1921569

Gene Summary

Name:

methyltransferase like 23

Synonyms:

1500035B17Rik, 1110005A03Rik, 4933424L15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased spleen weight	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	1.74×10^-06
decreased startle reflex	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	1.39×10^-05
abnormal head size	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	5.50×10^-10
enlarged spleen	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	0.00
decreased locomotor activity	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	2.15×10^-05
increased mean platelet volume	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	5.63×10^-11
decreased anxiety-related response	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	1.15×10^-06
abnormal retina morphology	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	1.12×10^-18
increased circulating unsaturated transferrin level	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	3.76×10^-06
increased total retina thickness	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	5.01×10^-06
abnormal behavior	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	4.24×10^-06
abnormal head morphology	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	4.01×10^-08
persistence of hyaloid vascular system	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	2.37×10^-10
abnormal optic disk morphology	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	1.27×10^-21
decreased thigmotaxis	Mettl23^{em1(IMPC)Hmgu}	HOM	Early adult	9.82×10^-10

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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

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X-ray

XRay Images Whole Body Lateral Orientation

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.

Human diseases associated with Mettl23 (1 diseases)
Human diseases predicted to be associated with Mettl23 (776 diseases)

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	Matching phenotypes	Source
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Optic atrophy	OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 9	Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy	OMIM:609055
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly	ORPHA:2274
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Optic atrophy	OMIM:108650
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Impulsivity, Tremor, Optic atrophy, Depression, Focal dystonia, Irritability, Gait...	ORPHA:216873
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Optic atrophy, Microcephaly	OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Optic atrophy, Depression, Irritability, Macular degeneration, Pr...	OMIM:256730
Spastic Paraplegia 43, Autosomal Recessive	Loss of ambulation, Optic atrophy, Gait disturbance	OMIM:615043
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Severe temper tantrums, Hemidystonia, Optic atrophy, Bradykinesia, Spastic gait	OMIM:619052
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Microcephaly, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy	OMIM:165300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Tremor, Optic atrophy, Abnorm...	OMIM:619470
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy, Abnormal repetitive mannerisms, Secondary microcephaly	OMIM:617830
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance	OMIM:616859
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Microcephaly, Tremor, Splenomegaly, Irritability, Dystonia, Loss ...	OMIM:615010
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Optic atrophy, Depression	OMIM:614296
Striatonigral Degeneration, Infantile	Choreoathetosis, Dystonia, Optic atrophy, Dysphagia	OMIM:271930
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel...	OMIM:618889
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, ...	ORPHA:79312
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Generalized dystonia, Ataxia, Inability to walk,...	OMIM:619389
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Optic atrophy, Ataxia, Dysphagia	ORPHA:1171
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Microcephaly	OMIM:620086
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Inappropriate laughter, Gait ataxia	OMIM:619323
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Microcephaly, Optic atrophy, Truncal ataxia	OMIM:611726
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Gait disturbance, Optic atrophy, Ataxia	ORPHA:2572
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microcephaly, Optic atrophy, Coloboma, Lethargy	OMIM:274270
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy	OMIM:300983
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Dystonia, Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Diffuse h...	OMIM:264470
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Spinocerebellar Ataxia 7	Tremor, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb...	OMIM:164500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Gait ataxia, Dysphagia, Intention tremor	OMIM:620221
Camos Syndrome	Optic atrophy, Ataxia, Microcephaly	ORPHA:83472
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Ataxia, Optic atrophy, Depression, Difficulty walking	OMIM:619425
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Irritability, Optic atrophy, Microcephaly	OMIM:609056
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Combined Saposin Deficiency	Splenomegaly, Optic atrophy, Hepatomegaly	OMIM:611721
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels	OMIM:614504
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Nescav Syndrome	Peripheral axonal neuropathy, Ataxia, Microcephaly, Inability to walk, Optic atrophy	OMIM:614255
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Emotional lability	OMIM:613672
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrop...	OMIM:204200
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Facial palsy, Abnormal retinal morphology, Elevated circulating creatine kinase concentra...	ORPHA:254886
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Leber Optic Atrophy And Dystonia	Dystonia, Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia	OMIM:500001
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic disc pallor, Inability to walk, Optic atrophy, Secondary microcephaly, Dysphagia	OMIM:617086
Leber Hereditary Optic Neuropathy	Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity	ORPHA:104
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance	ORPHA:3151
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Takenouchi-Kosaki Syndrome	Ataxia, Increased mean platelet volume, Optic atrophy, Progressive microcephaly, Thrombocytopenia	OMIM:616737
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph...	OMIM:300438
Wolfram-Like Syndrome	Progressive cerebellar ataxia, Peripheral axonal neuropathy, Optic atrophy, Depression	ORPHA:411590
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiad...	ORPHA:254881
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Ataxia, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy	ORPHA:329314
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Spastic Paraplegia 81, Autosomal Recessive	Retinal vascular tortuosity, Inability to walk, Optic atrophy, Microcephaly	OMIM:618768
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Leth...	ORPHA:289916
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Depression	OMIM:602079
Beta-Propeller Protein-Associated Neurodegeneration	Aggressive behavior, Tremor, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system physi...	ORPHA:329284
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia	ORPHA:1068
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Optic atrophy, Irritability, Athetosis, Gait disturbance, Secondary microcepha...	OMIM:618241
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fibrosis, ...	ORPHA:466794
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Short Chain Acyl-Coa Dehydrogenase Deficiency	Microcephaly, Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, Lethargy...	ORPHA:26792
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Irritability, Dystonia, Ab...	ORPHA:457205
Sandhoff Disease	Splenomegaly, Cherry red spot of the macula, Ataxia, Hepatomegaly	ORPHA:796
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At...	OMIM:615673
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore...	ORPHA:27
Congenital Disorder Of Glycosylation, Type Iaa	Optic disc pallor, Pseudobulbar paralysis, Microcephaly, Attenuation of retinal blood vessels	OMIM:617082
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypopl...	ORPHA:33445
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Microcephaly, Splenomegaly, Gait apraxia, Optic at...	OMIM:617302
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Developmental And Epileptic Encephalopathy 16	Dystonia, Optic atrophy, Secondary microcephaly, Microcephaly	OMIM:615338
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Primary...	OMIM:615075
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Microcephaly, S...	ORPHA:2585
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Microcephaly, Aggressive behavior	ORPHA:208441
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Retinopathy, Self-m...	OMIM:619422
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Thrombocytopenia	ORPHA:49827
Severe Canavan Disease	Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irritability, Lethargy	ORPHA:314911
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Optic atrophy	OMIM:300928
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr...	OMIM:311070
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Hsd10 Disease	Ataxia, Microcephaly, Tremor, Optic atrophy, Choreoathetosis, Gait disturbance, Dysphagia	ORPHA:391417
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte...	OMIM:204100
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Dystonia, Ataxia, Microcephaly, Optic atrophy, Irritability, Dysphagia, Lethargy, P...	OMIM:618226
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Sarcosinemia	Emotional lability, Hypersarcosinemia, Optic atrophy, Ataxia	ORPHA:3129
Cln3 Disease	Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Depre...	ORPHA:228346
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Optic atrophy, Truncal ataxia, Dysmetria, Hypoplastic optic chiasm...	OMIM:210000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir...	ORPHA:644
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Merrf	Optic atrophy, Ataxia	ORPHA:551
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia	ORPHA:65288
Leukodystrophy, Hypomyelinating, 21	Ataxia, Microcephaly, Optic atrophy, Athetosis, Dystonia	OMIM:619310
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Inability to walk, Optic atrophy, Dysmetria, Secondary microcephaly, Dystonia	OMIM:617954
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia	ORPHA:1186
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Emotional lability, Progressive gait ataxia, Optic atrophy, Progressive cerebellar ataxia	ORPHA:254343
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Dysphagia, Dystonia, Pancreatitis	OMIM:618230
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul...	ORPHA:157850
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Dystonia, Ataxia, Optic atrophy, Truncal ataxia, Dysmetria, Gait at...	OMIM:601338
Infantile Cerebellar-Retinal Degeneration	Retinal dystrophy, Ataxia, Microcephaly, Optic atrophy, Athetosis, Progressive microcephaly	OMIM:614559
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Microcephaly, Intrahepatic ...	OMIM:607330
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti...	OMIM:610539
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop...	OMIM:616881
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning, Ataxia	OMIM:618970
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Optic atrophy, Nonketotic hype...	ORPHA:401866
Craniotelencephalic Dysplasia	Optic nerve hypoplasia	OMIM:218670
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Secondary...	OMIM:617166
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Abnormality of macular pigm...	ORPHA:97229
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Ataxia, Microcephaly, Unsteady gait, Optic atrophy, Dystonia, Hyperalan...	OMIM:245349
Congenital Disorder Of Glycosylation, Type Iig	Microcephaly, Giant platelets, Anemia, Progressive microcephaly, Left ventricular hypertrophy, Th...	OMIM:611209
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Optic atrophy, Cessation of head growth, Gait disturbance, Emotional lability, Let...	OMIM:603896
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Mitochondrial Complex I Deficiency, Nuclear Type 15	Irritability, Optic atrophy, Dystonia	OMIM:618237
Leber Congenital Amaurosis 14	Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Myoclonus, Intractable, Neonatal	Optic disc pallor, Microcephaly, Athetosis, Dysphagia, Impaired oral bolus formation	OMIM:617235
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Optic atrophy	OMIM:620312
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Pigmentary retinopathy,...	ORPHA:216866
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Microcephaly, Amish Type	Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Irritability, Primary microcephaly	OMIM:607196
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Microcephaly, Optic atrophy, Difficulty wal...	ORPHA:401768
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, O...	OMIM:608799
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Peroxisome Biogenesis Disorder 8B	Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid conce...	OMIM:614877
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Optic atrophy, Sensory axonal...	OMIM:609541
Leukoencephalopathy With Vanishing White Matter 4	Unsteady gait, Optic atrophy	OMIM:620314
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Mucolipidosis Iv	Microcephaly, Abnormal abdomen morphology, Optic atrophy, Dystonia, Retinal degeneration	OMIM:252650
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Cardiomegaly, Microcephaly, Optic atrophy, Hyperammonemia, Choreoathetosi...	ORPHA:391428
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Dys...	OMIM:617964
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
X-Linked Intellectual Disability, Najm Type	Cerebral cortical atrophy, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Optic nerve hypoplasia	OMIM:614306
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly...	OMIM:209950
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity	ORPHA:99014
Cach Syndrome	Microcephaly, Optic atrophy, Truncal ataxia, Dysmetria, Hepatosplenomegaly, Limb ataxia, Irritabi...	ORPHA:135
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Microcephaly, Abnormality of the lymphatic system, Optic atrophy,...	ORPHA:487796
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
3-Methylglutaconic Aciduria, Type I	Ataxia, Optic atrophy, Athetosis, Dystonia, Self-mutilation	OMIM:250950
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia	OMIM:231000
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad...	OMIM:257200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Spinocerebellar Ataxia Type 1	Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,...	ORPHA:98755
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly, Ataxia	OMIM:617767
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Dysmetria, Athetosis,...	OMIM:617710
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati...	OMIM:614298
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ...	OMIM:249270
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Ascites, Abnormal macular morphology	ORPHA:87876
Spastic Paraplegia 2, X-Linked	Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria	OMIM:312920
Leukodystrophy, Hypomyelinating, 15	Dystonia, Ataxia, Microcephaly, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Intentio...	OMIM:617951
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine...	OMIM:620010
Optic Atrophy 6	Optic atrophy	OMIM:258500
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia	OMIM:616732
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Irritability, Cherry red spot of the macula, Ataxia, Optic disc pallor	OMIM:615281
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia	OMIM:617810
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria	OMIM:605259
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Pontocerebellar Hypoplasia, Type 9	Peripheral axonal neuropathy, Dystonia, Optic atrophy, Irritability, Secondary microcephaly, Dysp...	OMIM:615809
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking...	ORPHA:280234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Trunca...	OMIM:258450
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Ataxia, Head titubation, Optic atrophy, Dysmetria, Intention tremor	OMIM:618688
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging ...	OMIM:616719
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ...	ORPHA:289494
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dystonia, Dysphagia	ORPHA:77260
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili...	ORPHA:848
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:86893
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Microcephaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Impulsivity, Microcephaly, Tremor, Unsteady gait, Optic atrophy, Attention deficit hypera...	ORPHA:442835
Spastic Paraplegia 85, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Torticollis, Dysphagia	OMIM:619686
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia...	OMIM:267700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration, Microcephaly	OMIM:613151
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Progressive microcephaly, Dystonia,...	OMIM:610333
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Idiopathic Intracranial Hypertension	Papilledema, Abnormal emotion, Lethargy, Depression	ORPHA:238624
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation	OMIM:607694
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Emotional lability	OMIM:256000
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Optic nerve hypoplasia	ORPHA:228384
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, D...	OMIM:271245
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal pigment epithelial mottling, Chorio...	ORPHA:448237
Developmental And Epileptic Encephalopathy 61	Loss of ambulation, Optic atrophy, Secondary microcephaly	OMIM:617933
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Optic atrophy, Irritability, Difficulty walking, Dystonia	ORPHA:79097
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia	OMIM:614707
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Microcephaly, Tremor, I...	OMIM:312080
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gait, Dysphagia, ...	ORPHA:289560
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss ...	ORPHA:225154
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to...	ORPHA:845
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Restlessness, Optic disc pallor, Elevated circulating hexacosanoic acid concentration, Microcepha...	OMIM:614388
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Optic atrophy, Dysphagia, Gait disturbance, Limb ...	ORPHA:508093
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono...	OMIM:610743
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopathy...	OMIM:222300
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, S...	OMIM:270800
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C...	ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys...	OMIM:598500
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Deafness, Dystonia, And Cerebral Hypomyelination	Dystonia, Optic atrophy, Microcephaly	OMIM:300475
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg...	ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, Lethargy	OMIM:618228
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l...	ORPHA:79264
Leukodystrophy, Hypomyelinating, 6	Ataxia, Microcephaly, Tremor, Optic atrophy, Choreoathetosis, Dystonia	OMIM:612438
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Optic atrophy, Progressive microcephaly	ORPHA:477814
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Leber Optic Atrophy	Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro...	OMIM:535000
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Dystonia	OMIM:612319
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Central ner...	ORPHA:447788
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, O...	ORPHA:52368
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Spastic Paraplegia Type 7	Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait	ORPHA:99013
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Dystonia, Ataxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Atheto...	OMIM:617282
Combined Oxidative Phosphorylation Deficiency 32	Dystonia, Microcephaly, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagia	OMIM:617664
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Titubation...	ORPHA:98768
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia	ORPHA:1177
Isolated Atp Synthase Deficiency	Hyperalaninemia, Hepatomegaly, Ataxia, Microcephaly, Optic atrophy, Hyperammonemia, Dystonia, Let...	ORPHA:254913
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Dysphagia, Hyperammonemia, Irritability, Neutropenia, Loss of ambulation, Craniofa...	OMIM:618253
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia	OMIM:616204
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Agitation, Hy...	OMIM:619046
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Acanthocytosis, Tremor, Optic at...	OMIM:234200
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Maternal Uniparental Disomy Of Chromosome 4	Ataxia, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthocytosis,...	ORPHA:96180
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Anemia, ...	ORPHA:290
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Infantile Neuroaxonal Dystrophy	Hyperactivity, Peripheral axonal neuropathy, Ataxia, Dystonia, Impulsivity, Unsteady gait, Optic ...	ORPHA:35069
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Irritability, Cherry red spot of the macula	OMIM:228000
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Optic atrophy, ...	OMIM:608804
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma	ORPHA:1473
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab...	ORPHA:100924
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Microcephaly, Chorioretinal lac...	OMIM:152950
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia	ORPHA:137634
Spastic Paraplegia 7, Autosomal Recessive	Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag...	OMIM:607259
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Gait disturb...	OMIM:250100
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Microcephaly, Optic atrophy, Gait ataxia, Difficulty walking, Dystonia, Abnorma...	OMIM:617807
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Gait ataxia, Dysphagia	ORPHA:1947
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Ataxia, Microcephaly, Splenomegaly, Irritability, Cirrhosis	OMIM:613489
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Hyperalaninemia, Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Abn...	OMIM:615838
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Gait di...	OMIM:619259
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Inability to walk, Irritability	OMIM:617864
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Juvenile Sialidosis Type 2	Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss of ambulation...	ORPHA:93399
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thrombocytopenia, Splenom...	OMIM:603553
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia	ORPHA:496790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Microcephaly, Inability to walk, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia	OMIM:614739
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Dystonia, Optic atrophy, Dysphagia, Progressive cerebellar ataxia, Prolonged neonatal jaundice	OMIM:618868
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Ataxia, Hepatosplenomegaly, Depression	ORPHA:309288
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hyperactivity, Microcephaly, Optic atrophy, Aggressive behavior	ORPHA:369939
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella...	ORPHA:363429
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Microcephaly, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr...	OMIM:603585
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Infantile Refsum Disease	Hepatomegaly, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentrati...	ORPHA:772
Friedreich Ataxia	Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Optic atrophy, Dysmetria,...	ORPHA:95
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Arts Syndrome	Optic atrophy, Ataxia, Dysphagia	OMIM:301835
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Wilson Disease	Hepatomegaly, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Jaundice, Hepa...	ORPHA:905
Srd5A3-Cdg	Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Microcephaly, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive...	ORPHA:530983
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Thromboc...	ORPHA:824
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrophy, Intent...	OMIM:612674
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Decreas...	OMIM:214500
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro...	OMIM:609033
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Microc...	OMIM:259720
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Microcephaly, Optic atro...	OMIM:619487
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Ascites	OMIM:614702
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Dystonia, Microcephaly, Optic atrophy, Opisthotonus, Dysphagia, Progressive microce...	OMIM:277470
Stt3B-Cdg	Optic atrophy, Thrombocytopenia, Microcephaly	ORPHA:370924
Triple A Syndrome	Ataxia, Microcephaly, Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit...	OMIM:201100
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, I...	OMIM:614381
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Ataxia, Postural tremor, Optic atrophy, Dysmetria, Autonomic bladder dysfunction, Dysph...	ORPHA:447896
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdia...	OMIM:610217
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Dystonia, Tremor, Sple...	OMIM:615512
Developmental And Epileptic Encephalopathy 93	Microcephaly, Inability to walk, Optic atrophy, Gait disturbance, Iris coloboma	OMIM:618012
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia, Microcephaly	OMIM:615597
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath...	OMIM:205400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia	OMIM:614833
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia	OMIM:618233
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Pigmentary retin...	ORPHA:502423
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentrati...	ORPHA:309854
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal abdomen morp...	OMIM:216360
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci...	OMIM:259700
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Tem...	ORPHA:98673
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking	ORPHA:529665
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy...	OMIM:618249
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe...	ORPHA:309256
Spinocerebellar Ataxia, Autosomal Recessive 28	Truncal titubation, Optic atrophy, Gait ataxia	OMIM:618800
Trichothiodystrophy 5, Nonphotosensitive	Retinal dystrophy, Optic nerve hypoplasia, Global brain atrophy	OMIM:300953
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Secondary microcephaly, Hepatomegaly	OMIM:613730
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Gait disturbance, Sea-blue histiocytosis, Dysp...	OMIM:230600
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Ataxia, Abnormality of neutrophils, Splen...	ORPHA:381
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Microvesicular hepatic steatosis, Optic atrophy, Hypochro...	ORPHA:66634
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Optic atrophy, Optic nerve hypoplasia	ORPHA:370959
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Hepato...	OMIM:268800
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Microcephaly, Thrombocytopenia, Splenomegaly, Inability to walk, Optic atrophy, Leu...	OMIM:617303
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Microcephaly, Spl...	OMIM:614576
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Coenzyme Q10 Deficiency, Primary, 2	Bulimia, Optic atrophy	OMIM:614651
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Spastic Paraplegia 79B, Autosomal Recessive	Ataxia, Postural tremor, Head titubation, Optic atrophy, Opto-chiasmatic atrophy, Dysmetria, Loss...	OMIM:615491
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:85284
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Gait ataxia, Progressive cer...	ORPHA:95433
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
3-Methylglutaconic Aciduria, Type V	Ataxia, Microvesicular hepatic steatosis, Optic atrophy, Normochromic microcytic anemia, Nonprogr...	OMIM:610198
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Microcephaly, Thrombocytopenia, Dysmetria, Vitreous hemo...	OMIM:620185
Meningococcal Meningitis	Papilledema, Elevated circulating C-reactive protein concentration, Anorexia, Irritability, Lethargy	ORPHA:33475
Madras Motor Neuron Disease	Optic atrophy, Facial palsy, Dysphagia	ORPHA:137867
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia	OMIM:618828
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Optic atrophy, Depression, Progressive gait ataxia, Falls, Dysphagia, Loss ...	ORPHA:329308
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Microcephaly, Splenomegaly, Optic atrophy, Abn...	ORPHA:585
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy, Ataxia	OMIM:618248
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi...	OMIM:251900
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia	OMIM:607597
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Microcephaly, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly	ORPHA:466934
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Yell...	ORPHA:93400
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Angelman Syndrome	Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Microcephaly, In...	ORPHA:72
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand tremor, Step...	ORPHA:101076
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ...	ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 7	Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis	OMIM:613559
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Optic atrophy, Hypoplastic optic chiasm, Dysphagia, Dystonia	OMIM:617669
Pelizaeus-Merzbacher Disease	Ataxia, Microcephaly, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia	ORPHA:702
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Cholecystitis, Dysto...	ORPHA:309263
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy	OMIM:253260
Niemann-Pick Disease, Type C1	Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia,...	OMIM:257220
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora...	ORPHA:254930
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro...	OMIM:618056
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Truncal ataxia, Dysm...	OMIM:164400
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus, Anemia, Depression	OMIM:184850
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Birk-Landau-Perez Syndrome	Dystonia, Microcephaly, Optic atrophy, Hyperkalemia, Limb ataxia, Choreoathetosis, Difficulty wal...	OMIM:617595
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Verheij Syndrome	Optic nerve hypoplasia, Cerebral atrophy	OMIM:615583
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Microcephaly, Optic atrophy, Dysphagia	OMIM:617301
Joubert Syndrome 8	Optic disc pallor, Hepatomegaly, Ataxia, Pigmentary retinopathy, Prolonged neonatal jaundice	OMIM:612291
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein ...	OMIM:615688
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Spastic Paraplegia Type 2	Optic atrophy, Spastic gait, Ataxia	ORPHA:99015
Pontocerebellar Hypoplasia, Type 2E	Microcephaly, Optic atrophy, Opisthotonus, Irritability, Secondary microcephaly, Progressive micr...	OMIM:615851
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Metachromatic Leukodystrophy, Adult Form	Dystonia, Decreased nerve conduction velocity, Optic atrophy, Depression, Progressive gait ataxia...	ORPHA:309271
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Optic atrophy, Dysphagia, Increased cup-to-disc ratio, Secondary microcephaly, Primary ...	ORPHA:500144
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Congenital hepatic fibrosis, Opt...	ORPHA:1454
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Amish Lethal Microcephaly	Irritability, Microcephaly, Optic atrophy, Hepatomegaly	ORPHA:99742
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Microcephaly, O...	OMIM:213300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ataxia, Secondary microcephaly, Dystonia, Left ventricular hyper...	OMIM:619167
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Ataxia, Hypouricemia, Abnormal erythrocyte enzyme leve...	ORPHA:1187
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, Microcepha...	OMIM:616878
Pettigrew Syndrome	Aggressive behavior, Microcephaly, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious be...	OMIM:304340
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Cardiofaciocutaneous Syndrome 4	Optic nerve hypoplasia	OMIM:615280
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Optic atrophy, Exaggerated startle response, Microcephaly	OMIM:617281
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia	OMIM:615879
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Microcephaly, Inability to walk, Splenomegaly, Optic atrophy, Hypokalem...	OMIM:617913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Squalene Synthase Deficiency	Optic nerve hypoplasia	OMIM:618156
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia	ORPHA:363686
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait...	OMIM:614863
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Anorexia, Abnormal retinal v...	ORPHA:33226
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Tremor, Irritability, Primary...	OMIM:615574
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality...	OMIM:231550
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Pr...	OMIM:607625
Multiple Sulfatase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Peripheral demyelination, Retinal degeneration	OMIM:272200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Diffuse hepatic st...	ORPHA:436271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Microcephaly, Elevated circulating alpha-fetoprotein concentra...	OMIM:251880
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Nodular regenerative hyperplasia of liv...	ORPHA:404454
Aniridia 2	Aniridia, Optic atrophy, Iris coloboma	OMIM:617141
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Microc...	ORPHA:79282
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Phace Association	Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	ORPHA:158048
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly, Retinal hemorrhage, Po...	OMIM:609049
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
D-Glyceric Aciduria	Cerebral cortical atrophy, Optic nerve hypoplasia	OMIM:220120
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
White-Sutton Syndrome	Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr...	OMIM:616364
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia	ORPHA:3157
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Optic atrophy, Optic neuropathy, Depression	OMIM:604928
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Microcephaly, Conjugated hyperbilirubinemia, Splenomegaly...	OMIM:608885
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,...	OMIM:613843
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymp...	OMIM:616084
Norrie Disease	Retinal detachment, Aggressive behavior, Optic atrophy, Retinal dysplasia, Retinal fold	OMIM:310600
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia	OMIM:617914
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Microcephaly, Elevated circ...	ORPHA:480864
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj...	ORPHA:53035
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity, Hepatic steat...	OMIM:261680
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia	OMIM:222765
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune t...	ORPHA:77293
Chromosome Xp11.3 Deletion Syndrome	Microcephaly, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:300578
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia...	OMIM:618775
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hypoalbuminemia, Limb dys...	OMIM:277900
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Microcephaly	OMIM:257910
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dystonia, Ataxia, Head titubation, Optic atrophy, Dysmetria, Dysphagia, Lymphopenia, Intention tr...	OMIM:619708
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Increased hepatocell...	OMIM:220110
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Global brain atrophy	OMIM:301056
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia	OMIM:300749
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Microcephaly, Splenomegaly, Impaired ADP-induced pl...	OMIM:608233
19P13.13 Microdeletion Syndrome	Corpus callosum atrophy, Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L...	OMIM:260920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microcephaly, Splenomegaly...	OMIM:619418
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Cerebral atrophy	OMIM:612513
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia	OMIM:609053
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Ataxia, Optic neuropathy, Microcephaly...	ORPHA:2609
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citr...	ORPHA:255210
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Microcephaly, Optic atrophy, Dystonia, Impaired oropharyngeal swall...	ORPHA:521426
Dpagt1-Cdg	Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Microcephaly, Inability to walk, Tremor, Opt...	ORPHA:86309
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cessation of head growth, Optic atrophy, Dysphagia, Progressive mic...	OMIM:617527
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia	OMIM:612301
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Anemia, Exudative retinopathy, Bone marrow...	OMIM:612199
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Pseudobulbar paralysis, Abnormal circulating cholesterol concentration...	OMIM:213700
Joubert Syndrome 21	Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Dysphagia, Retinopathy	OMIM:615636
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu...	OMIM:610505
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Ataxia, Depression	OMIM:604121
Sturge-Weber Syndrome	Retinal detachment, Abnormal retinal vascular morphology, Optic atrophy, Abnormal choroid morphol...	ORPHA:3205
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis...	OMIM:106210
Stankiewicz-Isidor Syndrome	Hyperactivity, Abnormal optic disc morphology	OMIM:617516
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Optic atrophy, Facial palsy	ORPHA:261349
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Optic atrophy, Depression, Head tremor	ORPHA:314404
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy	OMIM:601539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia	OMIM:236670
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emoti...	ORPHA:428
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Hepatomegaly, Impulsivity, Aggre...	ORPHA:580
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Dystonia, Ataxia, Abnormal auditory evoked potentials, Aggress...	ORPHA:909
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Microcephaly	ORPHA:2714
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Tremor, Abnormality of the liver, Progressive gait ataxia,...	ORPHA:646
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia	OMIM:239200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Microcephaly, Microcytic a...	ORPHA:293967
Gaucher Disease	Hepatomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Tremor...	ORPHA:355
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Exaggerated startle response, Ataxia, Microcephaly, Dystonia	ORPHA:438216
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Fg Syndrome Type 1	Optic nerve hypoplasia	ORPHA:93932
Xeroderma Pigmentosum, Complementation Group B	Ataxia, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr...	ORPHA:2785
Cockayne Syndrome	Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Intention tremor,...	ORPHA:191
Cockayne Syndrome A	Hepatomegaly, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked ...	OMIM:216400
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:261250
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly...	ORPHA:90324
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Microcephaly	OMIM:618201
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Leukope...	ORPHA:1328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co...	OMIM:613154
Leptospirosis	Papilledema, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Ch...	ORPHA:509
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Ataxia, Optic atrophy, Hepatic fibrosis, Chorioretinal coloboma,...	OMIM:243910
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hyperu...	OMIM:232220
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ...	OMIM:127000
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Broad-based gait, Optic atrophy, Microcephaly	OMIM:609037
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, M...	ORPHA:649
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Stromme Syndrome	Retinal vascular tortuosity, Optic nerve hypoplasia	OMIM:243605
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Broad-based gait, Abnormality of the spleen, Thrombocytopenia, Splenom...	ORPHA:2072
Wolfram Syndrome	Ataxia, Abnormal mesentery morphology, Optic atrophy, Abnormal autonomic nervous system physiolog...	ORPHA:3463
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Elevated circulating C-reactive prot...	ORPHA:50918
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Cerebral atrophy, Attenuation of r...	ORPHA:468631
Hydranencephaly	Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb...	ORPHA:567983
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia	ORPHA:221139
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Microcephaly, Coloboma, Abnormal optic disc morphology, Ret...	ORPHA:508498
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Cerebellar cortical atrophy	OMIM:619321
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R...	OMIM:259900
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia	ORPHA:45358
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Bardet-Biedl Syndrome 20	Papilledema, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy, Pancreatitis	OMIM:619471
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia	OMIM:617506
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Anorexia, Splenomegaly...	OMIM:181000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia	OMIM:206900
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ...	ORPHA:93325
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron...	ORPHA:438213
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia	OMIM:609069
African Trypanosomiasis	Papilledema, Hepatomegaly, Akinesia, Aggressive behavior, Tremor, Splenomegaly, Jaundice, Hepatos...	ORPHA:3385
Marshall-Smith Syndrome	Optic nerve hypoplasia, Cerebral atrophy	OMIM:602535
Spondylodysplastic Ehlers-Danlos Syndrome	Optic disc coloboma, Optic nerve hypoplasia	ORPHA:536471
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia	OMIM:301043
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Cerebrooculonasal Syndrome	Optic nerve hypoplasia	OMIM:605627
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal optic nerve morphology, Optic nerve hypoplasia	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal optic nerve morphology, Optic nerve hypoplasia	ORPHA:352665
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Microcephaly, Dysphagia	OMIM:618367
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia	ORPHA:457284
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Phace Syndrome	Retinal vascular malformation, Optic nerve hypoplasia	ORPHA:42775
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, At...	OMIM:619539
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia	ORPHA:226307
Proboscis Lateralis	Optic disc coloboma, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:141099
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma, Microcephaly	OMIM:300166
Pineoblastoma	Papilledema, Retinoblastoma, Lethargy	ORPHA:251909
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia	OMIM:620025
Holoprosencephaly 9	Optic nerve hypoplasia	OMIM:610829
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Microcephaly, Chorioretinal coloboma, Cyclopia, Iris col...	OMIM:157170
8Q24.3 Microdeletion Syndrome	Retinal coloboma, Optic nerve hypoplasia, Global brain atrophy	ORPHA:508488
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Optic nerve hypoplasia	ORPHA:495875
Baller-Gerold Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Global brain atrophy	ORPHA:500150
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia	ORPHA:95494
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia	OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, ...	OMIM:619522
Intellectual Developmental Disorder, Autosomal Recessive 44		OMIM:615942

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mettl23

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mettl23.

No publications found that use IMPC mice or data for Mettl23.

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MGI Allele	Allele Type	Produced
Mettl23^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Mettl23^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Mettl23^{em1(IMPC)Rbrc}	Inter-exon deletion	Mice
Mettl23^{tm456238(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mettl23^{tm213121(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mettl23 MGI:1921569

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Mettl23 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data