Gene Summary

Name:
plexin A4
Synonyms:
Plxa4

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
enlarged testis Plxna4em1(IMPC)Mbp HOM Early adult 0.00
cataract Plxna4em1(IMPC)Mbp HOM   Early adult 5.14×10-07
abnormal testis morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Plxna4em1(IMPC)Mbp HOM Early adult 9.94×10-05
decreased body length Plxna4em1(IMPC)Mbp HOM Early adult 1.53×10-09
abnormal vitreous body morphology Plxna4em1(IMPC)Mbp HOM   Early adult 5.16×10-07
abnormal liver morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
impaired pupillary reflex Plxna4em1(IMPC)Mbp HOM   Early adult 7.04×10-06
abnormal optic disk morphology Plxna4em1(IMPC)Mbp HOM   Early adult 3.89×10-05
small liver Plxna4em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Plxna4em1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Plxna4 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 Plxna4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Microcephaly ORPHA:3465
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil, Submandibular lymph node enlargement OMIM:118400
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Facial diplegia, Aplasia/Hypoplasia of the cerebral white matter, 4-l... ORPHA:268940
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude ORPHA:90117
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Glossopharyngeal Neuralgia
Schwannoma, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology ORPHA:221098
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Abnormal a... ORPHA:300570
Optic Atrophy 5
Optic atrophy OMIM:610708
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy OMIM:617087
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Partington Syndrome
Limb dystonia, Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spastic Paraparesis And Deafness
Tremor, Cataract, Hypogonadism OMIM:312910
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy, Micropenis OMIM:610156
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Degenerative liver disease, Cone dystrophy OMIM:268040
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Periventricular Nodular Heterotopia 7
Optic atrophy, Cryptorchidism OMIM:617201
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Tremor, Choreoathetosis, Male hypogonadism, Juvenile cataract, Dystonia, Macroorc... OMIM:300055
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy, Micropenis ORPHA:75858
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Intention tremor, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Tre... OMIM:614307
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Tick-Borne Encephalitis
Abnormal autonomic nervous system physiology, Polyneuritis, Abnormal cranial nerve morphology, Fa... ORPHA:297
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Facial palsy, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Leber Congenital Amaurosis 1
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... OMIM:204000
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Macroorchidism ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Crypto... ORPHA:363741
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Facial palsy, Optic atrophy, Optic disc p... OMIM:611490
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... OMIM:264470
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice OMIM:214980
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Coats Disease
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... ORPHA:190
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Optic atr... OMIM:204200
Galactose Epimerase Deficiency
Cataract, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
47,Xyy Syndrome
Congenital stationary night blindness, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Var... ORPHA:8
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Intention tremor, Hepatosplenomegaly, Optic atrophy, Hepatic fibrosis ORPHA:466794
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy OMIM:602271
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... OMIM:613801
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Hypospadias, Optic atrophy, Decreased testicular size, Normochr... OMIM:610198
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Athetosis, Optic atrophy, Cryptorchidism, Dystonia OMIM:619310
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... ORPHA:791
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Cataract, Hepatomegaly, Jaundice OMIM:614876
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... OMIM:120200
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum ORPHA:180229
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Dystonia OMIM:271930
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis ORPHA:3156
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... ORPHA:457205
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Mccune-Albright Syndrome
Precocious puberty, Pancreatitis, Elevated circulating growth hormone concentration, Ovarian cyst... ORPHA:562
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Hypervitaminosis A, Susceptibility To
Papilledema, Abnormality of the liver OMIM:240150
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Fragile X Syndrome
Macroorchidism ORPHA:908
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy, Dystonia ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy, Generalized... OMIM:619389
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Iris coloboma, Cataract, Displacement of the ur... ORPHA:2377
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly, Cataract OMIM:613730
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... ORPHA:457083
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Postural tremor, Retinal vascular tortuosity ORPHA:104
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... ORPHA:91349
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Optic Atrophy 6
Optic atrophy OMIM:258500
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... ORPHA:324737
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Stt3B-Cdg
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum ORPHA:370924
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Decreased liver function, Cataract, Retinal dystrophy OMIM:614877
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Hepatic steatosis, Dystonia ORPHA:26792
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum OMIM:615597
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Optic Atrophy 9
Optic atrophy OMIM:616289
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Hypogonadism ORPHA:1466
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Optic atrophy, Optic disc pallor, Choreoat... ORPHA:98890
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Th... ORPHA:79312
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Cryptorchidism OMIM:618766
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure OMIM:616975
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormality of the liver ORPHA:44
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla... ORPHA:290
Merrf
Optic atrophy ORPHA:551
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dystonia ORPHA:1171
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve ORPHA:449563
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Iris coloboma, Macroorchidism OMIM:618874
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... OMIM:614866
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Warburg Micro Syndrome 1
External genital hypoplasia, Microcornea, Optic atrophy, Developmental cataract, Cryptorchidism OMIM:600118
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Dystonia, Craniofacial dystonia OMIM:617282
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia... ORPHA:289916
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Retinopathy, Optic atrophy, Tremor, Limb dystonia, Focal dystonia ORPHA:216873
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:612572
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cataract, Decreased testicul... ORPHA:3085
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Sensory axonal neuropathy, Athetosis, Optic atrophy, Elevated hep... OMIM:271245
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Cryptorchidis... OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia OMIM:619052
Benign Schwannoma
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of per... ORPHA:252164
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Coloboma, Ectopic posterior p... OMIM:610125
Infantile Refsum Disease
Hepatomegaly, Rod-cone dystrophy, Optic atrophy, Cataract, Facial palsy ORPHA:772
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Riboflavin Transporter Deficiency
Abnormal autonomic nervous system physiology, Abnormality of macular pigmentation, Optic disc pal... ORPHA:97229
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Multiple Sulfatase Deficiency
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... ORPHA:585
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism OMIM:248000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Pigmentary retinopathy, ... OMIM:214110
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Cholestatic liver disease, Pigmentary retinopathy, Tremor, ... ORPHA:79095
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Macroorchidism ORPHA:261318
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Intention tremor, Optic atrophy, Hypospadias, Head titubation OMIM:618688
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... ORPHA:90674
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Galactosemia
Action tremor, Hepatomegaly, Cryptorchidism, Hepatic failure, Cirrhosis, Abnormal erythrocyte enz... ORPHA:352
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Wolfram-Like Syndrome
Optic atrophy, Central diabetes insipidus, Peripheral axonal neuropathy, Male hypogonadism ORPHA:411590
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia... ORPHA:27
Leber Optic Atrophy And Dystonia
Optic atrophy, Dystonia, Leber optic atrophy, Athetosis OMIM:500001
Warburg Micro Syndrome 2
Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Hypoplastic labia major... OMIM:614225
Spinocerebellar Ataxia 7
Optic atrophy, Tremor, Pigmentary retinopathy, Macular degeneration OMIM:164500
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Cinca Syndrome
Leukocytosis, Papilledema, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... OMIM:614222
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Intention tremor, ... OMIM:612674
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Joubert Syndrome 9
Hepatic fibrosis, Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy... OMIM:222300
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Optic atrop... ORPHA:289494
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Microcytic anemia, Hepatomegaly, Neutropenia OMIM:251900
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Hypoplastic spleen ORPHA:89844
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:616469
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Hepatomegaly OMIM:614299
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy, Cataract, C... ORPHA:496790
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly, Abnormal macular morphology, Retinopathy, Optic atrophy, Tremor, Elev... OMIM:608799
Proteus Syndrome
Abnormality of retinal pigmentation, Lymphangioma, Ovarian neoplasm, Macroorchidism, Splenomegaly... ORPHA:744
Zellweger Syndrome
Corneal opacity, Hepatomegaly, Hepatic failure, Hypospadias, Posterior embryotoxon, Abnormal chor... ORPHA:912
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... OMIM:600132
Filippi Syndrome
Optic atrophy, Ambiguous genitalia, Cryptorchidism, Dystonia OMIM:272440
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, Cataract OMIM:612379
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... ORPHA:98977
Warburg Micro Syndrome 4
Micropenis, Decreased motor nerve conduction velocity, Microcornea, Optic atrophy, Developmental ... OMIM:615663
Congenital Hydrocephalus
Optic atrophy, Iris coloboma, Macular hypoplasia ORPHA:2185
Galactosemia I
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu... OMIM:230400
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Optic disc pa... OMIM:216360
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Postural tremor, Cataract OMIM:270800
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema ORPHA:3456
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Juvenile Sialidosis Type 2
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Optic atrophy, ... ORPHA:93399
Mirage Syndrome
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Hypoplastic... OMIM:617053
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Tremor, Choreoathetosis, Dystonia OMIM:612438
Congenital Sialidosis Type 2
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white le... ORPHA:93400
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Cataract, Hypogonadism OMIM:160900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Optic atrophy, Elevated circulating alanine aminotransferase conce... OMIM:261680
Alpha-Mannosidosis, Adult Form
Corneal opacity, Hepatosplenomegaly, Optic disc pallor, Cataract, Pancytopenia ORPHA:309288
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Elevated circulating alanine aminotransf... OMIM:618805
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... OMIM:259710
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Abnormality of the p... ORPHA:2969
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Abnormal autonomic nervous system physiology, Thrombocytopenia, Optic atrop... OMIM:598500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Cryptorchidism, Sclerocornea, Chorioreti... ORPHA:139471
Optic Pathway Glioma
Optic atrophy, Neurofibromas, Precocious puberty, Papilledema ORPHA:2086
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Tremor, Dystonia, Abnormal autonomic nervous system physiology ORPHA:329284
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Cataract, Chorioretinal coloboma ORPHA:163937
Myopathy With Extrapyramidal Signs
Hepatomegaly, Leukocytosis, Splenomegaly, Peripheral axonal neuropathy, Optic atrophy, Tremor, El... OMIM:615673
Harel-Yoon Syndrome
Corneal opacity, Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Dystonia OMIM:617183
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... ORPHA:280234
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... OMIM:615233
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Iris coloboma, Anterior hypopituitarism ORPHA:869
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormality of the g... ORPHA:3376
Bardet-Biedl Syndrome 20
Pancreatitis, Rod-cone dystrophy, Micropenis, Papilledema, Astigmatism, Retinal vascular tortuosi... OMIM:619471
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pseudopapilledema, Abnormal granulocyte morphology, Abn... ORPHA:1451
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Dilated Cardiomyopathy With Ataxia
Action tremor, Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anem... ORPHA:66634
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Accessory spleen, Sclerocornea... ORPHA:564
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice OMIM:608885
Walker-Warburg Syndrome
Corneal opacity, Hypoplasia of penis, Retinal detachment, Microcornea, Retinal dystrophy, Optic a... ORPHA:899
Mevalonic Aciduria
Fluctuating hepatomegaly, Nuclear cataract, Fluctuating splenomegaly, Leukocytosis, Normocytic hy... OMIM:610377
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... ORPHA:67042
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Tremor, Abnormal nerve conduction velocity ORPHA:99014
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Optic a... ORPHA:1173
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Retinal dysplasia ORPHA:272
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly, Gonadal dysgenesis, Optic atrophy, Cataract ORPHA:135
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Woods Syndrome
Optic atrophy, Lingual dystonia, Supernumerary nipple OMIM:615236
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, Cataract... ORPHA:699
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... OMIM:615512
Leukodystrophy, Hypomyelinating, 2
Intention tremor, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Head titu... OMIM:608804
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Cryptorchidism, Fundus atrophy, Small scrotum ORPHA:1970
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy,... OMIM:535000
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Microcornea, Clitoral... ORPHA:2510
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Hepatomegaly ORPHA:79279
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Micropenis, Hypogonadotropic hypogonadism, Microcytic anem... ORPHA:293967
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Conjunctivitis ORPHA:575
Leigh Syndrome
Optic atrophy, Dystonia, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, ... OMIM:612109
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Dpm1-Cdg
Hepatomegaly, External genital hypoplasia, Retinopathy, Hepatosplenomegaly, Optic atrophy, Elevat... ORPHA:79322
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
Autosomal Dominant Optic Atrophy, Classic Form
Morning glory anomaly, Temporal optic disc pallor, Macrocytic anemia, Optic atrophy, Cataract, Hy... ORPHA:98673
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy ORPHA:49827
Blepharonasofacial Malformation Syndrome
Optic atrophy, Cryptorchidism, Torsion dystonia ORPHA:1252
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Idiopathic Anterior Uveitis
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... ORPHA:280914
Distal Monosomy 13Q
Optic atrophy, Ambiguous genitalia, Iris coloboma ORPHA:1590
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hepatomegaly ORPHA:2971
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Splenomegaly, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, Anemia, ... OMIM:259700
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Astigmatism, Optic atrophy, Peters anomaly, Iris coloboma, Cryptorchidism, Chorioret... ORPHA:494344
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasia, Vaginal atresia, Cryp... ORPHA:3301
Trisomy 13
Abnormal retinal vascular morphology, Optic atrophy, Abnormal morphology of female internal genit... ORPHA:3378
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Metachromatic Leukodystrophy
Gallbladder dysfunction, Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Dysto... OMIM:250100
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Uveal ectropion, Retinal hemorrhage,... OMIM:609049
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Clitoral hypertrophy, Fused labia minora OMIM:608688
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Optic atrophy, Tremor, Postural tremor, Dystonia OMIM:607694
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Optic atrophy, Elevated hepatic transaminase,... OMIM:614576
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... OMIM:106210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Cholelithiasis, Hypoparathyroidism, Chronic active hepa... OMIM:240300
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Peripheral axonal neuropathy, Dystonia, Resting tremor ORPHA:401768
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Vaginal atresia, Micropenis, Attenuation of retinal blo... OMIM:209900
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... ORPHA:279914
Amish Lethal Microcephaly
Optic atrophy, Hepatomegaly ORPHA:99742
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Dystonia, Prolonged neonatal jaundice OMIM:618868
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... OMIM:616959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Cataract, Neutropenia, Macroorchidism OMIM:208400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor... OMIM:619260
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Abnormal retinal nerve fiber lay... ORPHA:1215
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Sensory axonal neuropathy, Optic atrophy, Optic disc pallor, Motor ... OMIM:609541
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... OMIM:268315
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Rod-cone dystrophy, Cirrhosis, Optic atrophy, Hepatic fibrosis OMIM:601539
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Chorioretinal atrophy, Hepatosplenomegaly, Optic atrophy, Acute pancrea... OMIM:619487
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Cataract OMIM:619527
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... ORPHA:67043
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Peripheral axonal neuropathy, Optic atrophy, Optic disc pallor, Dec... ORPHA:320406
Marinesco-Sjögren Syndrome
Optic atrophy, Cataract, External genital hypoplasia, Hypogonadism ORPHA:559
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia ORPHA:329178
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, ... ORPHA:261552
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Retinal detachment, Megalocornea, Coloboma, Optic atrophy, Cataract, Abno... ORPHA:370959
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Congenital Tufting Enteropathy
Cholestatic liver disease, Optic disc coloboma, Cataract, Punctate keratitis, Corneal erosion ORPHA:92050
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Cryptorchidism, Pigmentary retinopathy, Optic ... ORPHA:90321
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism OMIM:617523
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Dystonia, Macroorchidism OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Retinal detachment, Megalocornea, Coloboma,... OMIM:236670
Stromme Syndrome
Optic nerve hypoplasia, Accessory spleen, Microcornea, Retinal vascular tortuosity, Peters anomal... OMIM:243605
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatic failure, Hepatosp... OMIM:259720
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... ORPHA:268882
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat... OMIM:269200
Werner Syndrome
Retinal degeneration, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... OMIM:277700
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Splenomegaly ORPHA:93
Norrie Disease
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Abnormal ret... ORPHA:649
Neurofibromatosis Type 2
Retinal hamartoma, Remnants of the hyaloid vascular system, Neuroma, Bilateral vestibular schwann... ORPHA:637
Muscle-Eye-Brain Disease
Optic atrophy, Cataract ORPHA:588
Congenital Disorder Of Glycosylation, Type Iib
Optic atrophy, Hepatomegaly OMIM:606056
Leprosy
Enlarged peripheral nerve, Abnormal autonomic nervous system physiology, Abnormality of the seven... ORPHA:548
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia,... ORPHA:79330
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly OMIM:230600
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Rod-cone dystrophy, ... OMIM:614863
Pagod Syndrome
Agonadism, Abnormality of the spleen, Optic atrophy, Ambiguous genitalia, Abnormal morphology of ... ORPHA:991
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Conjunctivitis, Splenomegaly OMIM:253260
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... OMIM:601186
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Prolonged neonatal j... ORPHA:423479
Dermoid Cysts, Familial Frontonasal
Papilledema OMIM:600679
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Granular macular appearance, Uterine neoplasm, Prostate cancer... ORPHA:71505
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Congenital Hypothyroidism
Prolonged neonatal jaundice, Thyroid dysgenesis, Anterior hypopituitarism, Optic atrophy, Catarac... ORPHA:442
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic disc pallor, Abnormality of central somatosensory evoked potentials, Cataract OMIM:213700
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Cataract, Hypogonadism OMIM:610651
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Opacification of the corneal stroma, Pigmentary retinopathy, Optic dis... OMIM:214100
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy, Truncal titubation OMIM:618800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic st... ORPHA:436271
Chops Syndrome
Optic atrophy, Cryptorchidism, Cataract, Splenomegaly OMIM:616368
Jacobsen Syndrome
Annular pancreas, Labial hypoplasia, Hypospadias, Microcornea, Clitoral hypoplasia, Optic atrophy... OMIM:147791
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Intention tremor, Optic atrophy, Vestibular areflexia ORPHA:504476
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Cholelithiasis, Thrombocytopenia, Normochromic anemia OMIM:618775
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Choreoa... ORPHA:2715
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Opisthotonus, Pigmentary retinopathy, Optic disc pallor, Generalized dystonia ORPHA:216866
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Optic atrophy, Elevated hepatic transaminase, Hypogonadism, Cryptorc... OMIM:614231
Dyskeratosis Congenita, X-Linked
Urethral stenosis, Cryptorchidism, Cirrhosis, Leukopenia, Hypospadias, Optic atrophy, Cataract, P... OMIM:305000
Cockayne Syndrome A
Thymic hormone decreased, Abnormal peripheral myelination, Hepatomegaly, Decreased nerve conducti... OMIM:216400
Hyper-Igd Syndrome
Neutrophilia, Rod-cone dystrophy, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, ... OMIM:260920
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic steatosis, Opti... OMIM:618329
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Bifid scrotum, Abnormality of the pancreas, Optic atrophy, Cryptorchidism ORPHA:1555
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Intention tremor, Cholecystitis, Optic atrophy, Dystonia ORPHA:309263
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Increased hepatoce... OMIM:220110
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic neuropathy, Choreoathetosis OMIM:618249
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Abnormality of the peritoneu... ORPHA:1764
Classic Homocystinuria