Gene Summary

Name:
PTPRF interacting protein, binding protein 2 (liprin beta 2)
Synonyms:
liprin beta 2,  Cclp1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal stomach morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
thick skin Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
abnormal lens morphology Ppfibp2em1(IMPC)Tcp HOM   Late adult 3.32×10-05
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Middle aged adult 3.74×10-05
abnormal retinal blood vessel morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.44×10-15
enlarged urinary bladder Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal retinal vasculature morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.29×10-13
abnormal optic disk morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.44×10-15
abnormal seminal vesicle morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
persistence of hyaloid vascular system Ppfibp2em1(IMPC)Tcp HOM Late adult 4.89×10-15
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Late adult 4.82×10-06
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
abnormal vocalization Ppfibp2em1(IMPC)Tcp HOM   Late adult 2.52×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

163 Images

Eye Morphology

Images Ophthalmoscopy

96 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

17 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

50 Images

Eye Morphology

Images Slit Lamp

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Ppfibp2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppfibp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 5
Optic atrophy OMIM:610708
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Ribose 5-Phosphate Isomerase Deficiency
Increased level of D-threitol in urine, Optic atrophy, Increased level of ribitol in urine, Decre... OMIM:608611
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Periventricular Nodular Heterotopia 7
Optic atrophy, Cryptorchidism, Cleft palate OMIM:617201
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Hem... ORPHA:1473
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Camos Syndrome
Optic atrophy, Renal insufficiency, Nephrotic syndrome ORPHA:83472
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia OMIM:271930
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Abnormal retinal vascular morph... ORPHA:791
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration OMIM:204200
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Vitreoretinochoroidopathy
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Splenomegaly OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Abnormal stomach morphology, Hypogonadism, Corneal opacity, Unilateral renal... ORPHA:281090
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dysphagia, Cataract, Sensory axonal neuropathy ORPHA:329314
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Retinal Venous Beading
Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunct... OMIM:180080
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor, Drusen OMIM:618632
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Micropenis, Cry... OMIM:615663
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Cleft palate, Bifid uvula, Retinal vascular tortuosity OMIM:618768
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Warburg Micro Syndrome 3
Hypoplastic labia minora, Optic atrophy, Developmental cataract, Shallow anterior chamber, Narrow... OMIM:614222
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Developmental And Epileptic Encephalopathy 61
Optic atrophy, High palate OMIM:617933
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Optic Atrophy 6
Optic atrophy OMIM:258500
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Achlorhydria, Opacification of the corneal ... OMIM:252650
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Cone dystrophy OMIM:268040
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, Optic neuritis OMIM:165200
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Dysphagia, Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Retinitis Pigmentosa 56
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Rod-cone dystrophy, Segmental peripheral demyelination/remye... OMIM:311070
Optic Atrophy 9
Optic atrophy OMIM:616289
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Merrf
Optic atrophy ORPHA:551
Isolated Oxycephaly
Papilledema ORPHA:63440
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Micropenis, Cryptorchidism OMIM:615597
Wildervanck Syndrome
Facial palsy, Webbed neck, Pseudopapilledema, Lens subluxation ORPHA:3456
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Cofs Syndrome
Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Wildervanck Syndrome
Webbed neck, Pseudopapilledema OMIM:314600
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Dysphagia, Cataract, Optic atrophy OMIM:614877
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Gastroesophageal reflux OMIM:618324
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy, Uraciluria OMIM:274270
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Retinal arte... OMIM:249660
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration OMIM:256730
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Dysphagia OMIM:617086
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve, Macular dystrophy, Optic atrophy ORPHA:33445
Spinocerebellar Ataxia 7
Optic atrophy, Dysphagia, Macular degeneration, Pigmentary retinopathy OMIM:164500
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency OMIM:619425
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Cherubism
Optic atrophy ORPHA:184
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Wolfram-Like Syndrome
Optic atrophy, Peripheral axonal neuropathy, Gastrointestinal dysmotility, Male hypogonadism, Cen... ORPHA:411590
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria OMIM:258501
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Riboflavin Transporter Deficiency
Dysphagia, Optic disc pallor, Abnormal cranial nerve morphology, Facial palsy, Hypogonadism, Abno... ORPHA:97229
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, High palate OMIM:615075
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Dysphagia OMIM:617282
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Decreased sensory nerve conduction velocity, Peripheral de... OMIM:609033
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy OMIM:617207
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Urinary incontinence, Cataract OMIM:270800
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bone spi... OMIM:613810
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract ORPHA:3173
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Warburg Micro Syndrome 1
Microcornea, Optic atrophy, Developmental cataract, External genital hypoplasia, Cryptorchidism OMIM:600118
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Cryptorchidism OMIM:618766
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... ORPHA:98977
Cednik Syndrome
Optic atrophy, Nephrotic syndrome, Hypogonadism, Abnormality of peripheral nerve conduction, Prot... ORPHA:66631
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Morning glory anomaly, Macular hyperpigmentation, Retinal col... OMIM:120330
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Dysphagia OMIM:617669
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:248000
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Filippi Syndrome
Optic atrophy, Cryptorchidism, Ambiguous genitalia OMIM:272440
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Optic atrophy, Dysphagia, Retinopathy ORPHA:216873
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Hepatomegaly, Splenomegaly OMIM:615085
Retinitis Pigmentosa 72
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy OMIM:616469
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy, Cryptorchidism, Aminoaciduria, Gast... OMIM:249270
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Zellweger Syndrome
Pyloric stenosis, Optic atrophy, Hypospadias, High palate, Hepatomegaly, Hydronephrosis, Posterio... ORPHA:912
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Hepatosplenomegaly OMIM:611490
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Cleft palate, Retinal dysplasia, Retinal dystrophy... ORPHA:899
Hsd10 Disease
Optic atrophy, Dysphagia, Abnormal urinary acylglycine profile, Gastrointestinal dysmotility, Ele... ORPHA:391417
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Cataract, Coloboma, Decreased response ... ORPHA:324737
3-Methylglutaconic Aciduria, Type V
Hypospadias, Optic atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Cryptorchidism, Decreas... OMIM:610198
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Iris coloboma, Achalasia, Anterior hypopituitarism ORPHA:869
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
Optic Atrophy 1
Optic atrophy OMIM:165500
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration, Cholelithiasis OMIM:214980
Trisomy 13
Optic atrophy, High, narrow palate, Cleft palate, Abnormality of the ureter, Hydronephrosis, Abno... ORPHA:3378
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Congenital Tufting Enteropathy
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Optic disc coloboma, Abnorma... ORPHA:92050
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Corneal opacity, Cataract, 3... ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy OMIM:618229
Juvenile Sialidosis Type 2
Optic atrophy, Dysphagia, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cornea... ORPHA:93399
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Cryptorchidism, Gastroesophageal reflux OMIM:615419
3-Methylglutaconic Aciduria, Type Ix
Optic atrophy, Urinary incontinence, 3-Methylglutaconic aciduria OMIM:617698
Warburg Micro Syndrome 2
Optic atrophy, Developmental cataract, Hypoplastic labia majora, Micropenis, Cataract, Cryptorchi... OMIM:614225
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Iris coloboma, Anal atresia, Multicystic kidney dysplasia, ... ORPHA:3301
Distal Monosomy 13Q
Optic atrophy, Ambiguous genitalia, Anal atresia, Iris coloboma ORPHA:1590
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cataract, Narrow palate OMIM:617481
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Dysphagia, Facial palsy, Organic aciduria OMIM:614707
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
4H Leukodystrophy
Optic atrophy, Dysphagia, Hypogonadotropic hypogonadism, Cataract, Decreased response to growth h... ORPHA:289494
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:616680
Micro Syndrome
Hypoplastic labia minora, Optic atrophy, Abnormality of retinal pigmentation, High palate, Hydron... ORPHA:2510
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Cleft palate, Leukocoria OMIM:257910
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Retinal dysplasia ORPHA:272
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatosplenomegaly ORPHA:466794
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:612674
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Cach Syndrome
Optic atrophy, Dysphagia, Renal hypoplasia, Optic neuritis, Hepatosplenomegaly, Cataract, Prematu... ORPHA:135
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Rod-cone dystrophy, Cataract ORPHA:772
Behr Syndrome
Optic atrophy OMIM:210000
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615233
Null Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Peripheral demyelination, Decreased ne... ORPHA:280234
Stt3B-Cdg
Small scrotum, Optic atrophy, Micropenis, Cryptorchidism ORPHA:370924
Pontocerebellar Hypoplasia, Type 9
Macroglossia, Optic atrophy, Peripheral axonal neuropathy OMIM:615809
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Hypogonadism, ... ORPHA:1173
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Dysphagia, Facial palsy, Sensory axonal neuropathy, Optic neuritis, Abnormal retin... ORPHA:254886
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity ORPHA:440727
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Dysphagia, Chorioretinal coloboma, Peters anomaly, Iris coloboma, Ves... ORPHA:494344
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatomegaly, Splenome... ORPHA:585
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Corneal erosion, Rectovaginal fistula, Intestinal malrotation, Optic disc c... OMIM:270420
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Dysphagia, High palate, Renal hypoplasia, Hydronephrosis, Cataract, Aminoaciduria,... OMIM:617913
Hypervitaminosis A, Susceptibility To
Papilledema, Renal insufficiency OMIM:240150
Distal Monosomy 7Q36
Optic atrophy, Cryptorchidism, Cleft palate, Hypoplasia of penis ORPHA:1636
Optic Pathway Glioma
Optic atrophy, Papilledema, Precocious puberty, Neurofibromas ORPHA:2086
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Knobloch Syndrome
Pyloric stenosis, Ectopia lentis, Vitreoretinopathy, Lymphangioma, Bifid ureter, Macular degenera... ORPHA:1571
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of ... ORPHA:93400
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials OMIM:616648
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Macroglossia, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Catarac... ORPHA:309288
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias, Optic atrophy OMIM:618688
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Sarcosinemia
Optic atrophy, Hypersarcosinuria ORPHA:3129
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cleft palate, Retinal detachment, Cataract, Remnants of the hyaloid vascular... ORPHA:2714
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Gastroesophageal reflux ORPHA:141
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Dysphagia, Cataract OMIM:619527
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Urinary incontinence, 3-Methylglutaconic aciduria ORPHA:505216
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Optic disc pallor, High palate OMIM:617523
Chops Syndrome
Horseshoe kidney, Optic atrophy, Cataract, Vesicoureteral reflux, Cryptorchidism, Gastroesophagea... OMIM:616368
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor OMIM:619328
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Hydroureter, Abnormal autonomic nervous system physiology OMIM:598500
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, High, narrow palate, Hepatomegaly, Splenomegaly, Retinopathy, Abnormal macular mor... OMIM:608799
Spastic Paraplegia Type 7
Optic atrophy, Dysphagia, Optic disc pallor, Urinary urgency ORPHA:99013
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Dermoid Cysts, Familial Frontonasal
Papilledema, Dysphagia OMIM:600679
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Asplenia, Pelvic k... OMIM:156810
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, High palate, Renal tubular acidosis, Cataract... ORPHA:1493
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... ORPHA:1215
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Chronic kidney disease, ... ORPHA:801
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Abnormality iris morphology, Macroglossia, Optic nerve hypoplasia, Retinal detachm... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Buphthalmos, Cleft palate, Retinal dysplasia, Optic nerve hypoplasia, Peters anoma... OMIM:236670
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Macular edema, Increased cup-to-disc ratio, Pos... ORPHA:280914
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619310
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... OMIM:619260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Optic nerve hypoplasia, Peters anomaly, Retinal detachment, Cataract, Remnants... OMIM:614643
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Cinca Syndrome
Lymphadenopathy, Papilledema, Hepatosplenomegaly OMIM:607115
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Madras Motor Neuron Disease
Optic atrophy, Dysphagia, Facial palsy ORPHA:137867
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, High palate, Villous atrophy, Bifid uvula, Iris coloboma OMIM:601110
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Dysphagia, Temporal optic disc pallor, Morning glory anomaly, Hypogonadism, Cataract ORPHA:98673
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Hydronephrosis, Dysphagia, Pigmentary retinopathy, Hydroureter... OMIM:222300
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Congenital stationary night blindness, Hypogonadotropic hypogonadism... ORPHA:293967
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Dysphagia OMIM:618253
Schindler Disease, Type I
Optic atrophy, Increased urinary O-linked sialopeptides OMIM:609241
3C Syndrome
Hypospadias, Optic atrophy, High, narrow palate, Cleft palate, Chorioretinal coloboma, Ectopic an... ORPHA:7
Arts Syndrome
Optic atrophy, Dysphagia OMIM:301835
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Woods Syndrome
Optic atrophy, Supernumerary nipple OMIM:615236
Blepharonasofacial Malformation Syndrome
Optic atrophy, Cryptorchidism, Cleft palate ORPHA:1252
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Esophageal varix, Nephronophthisis, Multiple small medullary ren... OMIM:216360
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Cherry red spot of the macula OMIM:615281
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Micropenis, Ambiguous genitalia OMIM:614969
Aica-Ribosuria Due To Atic Deficiency
Clitoral hypertrophy, Optic atrophy, Fused labia minora OMIM:608688
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Optic atrophy, Hepatomegaly, Splenomegaly ORPHA:79312
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Optic atrophy, Hepatomegaly OMIM:251900
Meckel Syndrome
Optic atrophy, Ureteral duplication, Cleft palate, True hermaphroditism, Pancreatic cysts, Asplen... ORPHA:564
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy, Paralytic ileus OMIM:613559
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, External ... OMIM:601095
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Optic atrophy, Optic disc pallor, Sensory axonal neuropathy OMIM:609541
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Leber Optic Atrophy And Dystonia
Leber optic atrophy, Optic atrophy, Dysphagia OMIM:500001
Neurofibromatosis Type 2
Abnormality of the optic nerve, Dysphagia, Posterior subcapsular cataract, Cortical cataract, Fac... ORPHA:637
Hsd10 Disease, Infantile Type
Optic atrophy, Dysphagia, Retinal degeneration, Abnormal concentration of acylcarnitine in the ur... ORPHA:391428
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:2715
Leber Optic Atrophy
Leber optic atrophy, Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity OMIM:535000
Crouzon Disease
Conjunctivitis, Optic atrophy, Narrow palate, Iris coloboma ORPHA:207
Sturge-Weber Syndrome
Optic atrophy, Dysphagia, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heteroch... ORPHA:3205
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Optic atrophy, Dysphagia OMIM:607694
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly OMIM:619170
Marinesco-Sjögren Syndrome
Hypogonadism, Optic atrophy, External genital hypoplasia, Cataract ORPHA:559
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Macular edema, Abnormal retinal vascular morphology, Retinal neovasculariza... ORPHA:247691
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal dystrophy ORPHA:49827
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... ORPHA:2494
Stankiewicz-Isidor Syndrome
Hypospadias, Ureteral duplication, Pineal cyst, Abnormality of the optic disc, Micropenis, Crypto... OMIM:617516
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Optic disc pallor, Lymphadenopathy, Fluctuating hepat... OMIM:610377
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Neurogenic bladder OMIM:618527
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Chronic kidne... ORPHA:90291
Suleiman-El-Hattab Syndrome
Hydronephrosis, High palate, Optic disc pallor, Webbed neck, Cryptorchidism OMIM:618950
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, High, narrow palate, Hepatomegaly, Optic disc pallor, High palate, Hydronephrosis, M... OMIM:214100
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Congenital Hypothyroidism
Optic atrophy, Goiter, Macroglossia, Nephrolithiasis, Hypogonadism, Intestinal obstruction, Trach... ORPHA:442
Oculocerebrofacial Syndrome, Kaufman Type
Abnormality of the optic nerve, Optic atrophy, Chorioretinal dystrophy, High, narrow palate, Chor... ORPHA:2707
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Hepatomegaly ORPHA:289916
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy, Sensory axonal neuropathy OMIM:608804
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastric varix, Splenomegaly, Gastrointestinal hemorrh... ORPHA:64743
Vitamin K Antagonist Embryofetopathy
Macroglossia, Optic atrophy, Cataract ORPHA:1914
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Hypospadias, Optic atrophy, Cryptorchidism, High palate OMIM:300004
Muscle-Eye-Brain Disease
Optic atrophy, Cataract ORPHA:588
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Papilledema, Micropenis, Bilateral cryptorchidism, Male hypogonadism, Retinal... OMIM:619471
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Horseshoe kidney, Hepatomegaly, Rectov... ORPHA:2538
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Dysphagia OMIM:618233
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy OMIM:300475
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Cataract ORPHA:168549
Norrie Disease
Optic atrophy, Uterine rupture, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia l... ORPHA:649
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux, Thin skin ORPHA:98892
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Gastroesophageal reflux OMIM:617664
Spastic Paraplegia Type 2
Optic atrophy, Spastic/hyperactive bladder ORPHA:99015
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Nephropathy, Conjunctivitis ORPHA:575
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Proximal tubu... OMIM:614576
Cancer-Associated Retinopathy
Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Pancreatic adenocarcinom... ORPHA:71505
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Gastric ulcer, Neurogenic bladder OMIM:604928
Amish Lethal Microcephaly
Cleft soft palate, Optic atrophy, Hepatomegaly, Organic aciduria ORPHA:99742
White-Sutton Syndrome
Optic atrophy, High palate, Rod-cone dystrophy, Iris coloboma, Astigmatism, Gastroesophageal reflux OMIM:616364
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Iris ... ORPHA:381
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Gm1 Gangliosidosis
Optic atrophy, Dysphagia, Retinopathy of prematurity, Cherry red spot of the macula, Macroglossia... ORPHA:354
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Unilateral facial palsy, Optic atrophy, Astigmatism, Rod-cone dystrophy OMIM:618547
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Hydronephrosis, Cleft palate, Intestinal malrotation, Cryptorchidism, Gastroesopha... ORPHA:457193
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Cinca Syndrome
Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Splenomegaly, Pseudopapilledema ORPHA:1451
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Optic atrophy, Small scrotum, Fundus atrophy ORPHA:1970
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, Bilateral cryptorchidism, High palate ORPHA:314575
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:610651
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Optic atrophy, Dysphagia OMIM:618868
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Gastroesophageal reflux, Exaggerated median tongue furrow, Narrow palate ORPHA:313892
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Axonal degeneration/... OMIM:601152
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Alg8-Cdg
Optic atrophy, Macroglossia, Cataract, Retinopathy, Abnormality of the gastrointestinal tract ORPHA:79325
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Hepatosplenomegaly, Cranial nerve compression, Facial paralysis OMIM:259710
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, High palate, Hepatomegaly, Esophageal varix, ... ORPHA:394
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Hypospadias, Bilateral c... ORPHA:2409
Jacobsen Syndrome
Pyloric stenosis, Optic atrophy, Hypospadias, Chorioretinal coloboma, Annular pancreas, Labial hy... OMIM:147791
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Keratoconus ORPHA:401777
Mitochondrial Membrane Protein-Associated Neurodegeneration
Urinary incontinence, Optic atrophy, Dysphagia, Motor axonal neuropathy ORPHA:289560
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Astigmatism, Anal atresia OMIM:616875
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormality of retinal pigmentation, Intestinal pseudo-obstruction, Macroglossia, S... OMIM:309900
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Dysphagia, Optic disc pallor, Gastroesophageal reflux OMIM:301790
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Horseshoe kidney, Cryptorchidism, Hypospadias OMIM:218350
Cornelia De Lange Syndrome 1
Pyloric stenosis, Hypospadias, Cleft palate, Hypoplastic nipples, Reduced renal corticomedullary ... OMIM:122470
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Proxi... OMIM:146255
Carpenter Syndrome 1
Optic atrophy, Hydronephrosis, High palate, External genital hypoplasia, Precocious puberty, Cryp... OMIM:201000
Cockayne Syndrome Type 3
Splenomegaly, Unilateral renal agenesis, Optic disc pallor, Urinary retention, Microcornea, Hepat... ORPHA:90324
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenital shortened small intes... OMIM:300048
L-2-Hydroxyglutaric Aciduria
Optic atrophy, L-2-hydroxyglutaric aciduria OMIM:236792
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal Fanconi syndrome, Optic atrophy, High palate, Renal tubular dysfunction, Hepatomegaly, Hype... OMIM:220110
Incontinentia Pigmenti
Optic atrophy, Hypoplastic nipples, Hypoplasia of the fovea, Retinal vascular proliferation, Kera... OMIM:308300
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Cryptorchidism, High palate, Facial palsy OMIM:310400
Phace Association
Optic atrophy, Developmental cataract, Lingual thyroid, Horner syndrome, Optic nerve hypoplasia, ... OMIM:606519
Canavan Disease
Optic atrophy, Elevated urinary N-acetylaspartic acid level OMIM:271900
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy OMIM:144755
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Optic atrophy, Hepatomegaly ORPHA:27
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Optic nerve hypoplasia, Increased c... ORPHA:447788
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Decreased nerve conduction velocity... ORPHA:512
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Spinocerebellar Ataxia 13
Optic atrophy OMIM:605259
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Hydronephrosis, Aganglionic megacolon, Abnormality of the male genitalia, Macroglo... ORPHA:847
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic atrophy, Dysphagia, Optic disc pallor, Urinary b... OMIM:164400
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Dysphagia, Increased cup-to-disc ratio, Gastroesophageal reflux, Neurogenic bladder ORPHA:500144
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Motor axonal neuropathy, Achalasia, Anisocoria, Abnormal ... OMIM:231550
Hardikar Syndrome
Bilateral cleft lip and palate, Hepatomegaly, Hydronephrosis, Esophageal varix, Celiac disease, H... OMIM:301068
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Buphthalmos, Decreased distal sensory nerve action potential, Myelin outfoldings, ... ORPHA:99956
Spinocerebellar Ataxia Type 13
Optic atrophy, Dysphagia, Optic disc pallor, Urinary urgency, Urinary incontinence ORPHA:98768
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Optic atrophy, Iris coloboma OMIM:615219
Hermansky-Pudlak Syndrome 8
Astigmatism, Optic disc pallor, Hypoplasia of the fovea, Ocular albinism OMIM:614077
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Urinary incontinence, 3-Methylglutaconic aciduria OMIM:250950
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Paralytic ileus, Oral-pharyngeal dy... ORPHA:254930
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cleft palate, Chorioretinal coloboma, Malabso... ORPHA:50
Infantile Cerebellar-Retinal Degeneration
Retinal dystrophy, Optic atrophy OMIM:614559
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, High palate, Abnormal large intestine morphology, Optic nerve hypo... ORPHA:93932
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Elevated circulating follicle stimulating hormone level, Rod-cone dystrophy, An... OMIM:618419
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Optic disc pallor, Splenomegaly, Absence of renal corticomedullary d... OMIM:259720