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
increased exploration in new environment Plxna4em1(IMPC)Mbp HOM Early adult 5.82×10-05
enlarged testis Plxna4em1(IMPC)Mbp HOM Early adult 0.00
cataract Plxna4em1(IMPC)Mbp HOM   Early adult 2.08×10-07
decreased body length Plxna4em1(IMPC)Mbp HOM Early adult 1.09×10-09
abnormal vitreous body morphology Plxna4em1(IMPC)Mbp HOM   Early adult 2.06×10-07
impaired pupillary reflex Plxna4em1(IMPC)Mbp HOM   Early adult 5.77×10-06
small liver Plxna4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Plxna4em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Plxna4em1(IMPC)Mbp HOM Early adult 8.29×10-05
abnormal liver morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Plxna4em1(IMPC)Mbp HOM Early adult 2.63×10-07
abnormal optic disk morphology Plxna4em1(IMPC)Mbp HOM   Early adult 3.86×10-05
abnormal spleen morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
abnormal cholesterol homeostasis Plxna4em1(IMPC)Mbp HOM Early adult 1.54×10-05

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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
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... OMIM:600638
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Pachygyria, T... ORPHA:572013
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... ORPHA:3077
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Bilateral Polymicrogyria
4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy... ORPHA:268940
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Schwannoma ORPHA:221098
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large ... ORPHA:300570
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Tremor, Bruxism, Choreoathetosis, Male hypogonadism, Dystonia, Macr... OMIM:300055
47,Xyy Syndrome
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa... ORPHA:8
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Memory impairment OMIM:620312
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Impulsivity, Tremor, Optic atrophy, Dysphagia, Depression, Focal dystonia, Irri... ORPHA:216873
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Micropenis ORPHA:75858
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Anemia OMIM:238700
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Retinal dystrophy OMIM:614706
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment, Dysphagia, Sensory axonal ne... ORPHA:329314
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy, Depression OMIM:614296
Fragile X Syndrome
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:908
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration,... OMIM:204200
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Tremor, Depression, Pigmentary retinopathy, Abnormality... OMIM:614307
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Dysphagia, Pigmentary retinopathy, Ir... OMIM:264470
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia, Mental deterioration OMIM:615924
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Tick-Borne Encephalitis
Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal autonomic nervou... ORPHA:297
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E... OMIM:204000
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Lujan-Fryns Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries ORPHA:284180
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Athetosis, Dystonia, Mental deterio... OMIM:619310
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia, Cognitive impairment, Dystonia ORPHA:1171
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneratio... OMIM:256730
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... OMIM:602271
Wolfram-Like Syndrome
Peripheral axonal neuropathy, Optic atrophy, Depression, Dementia, Male hypogonadism ORPHA:411590
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment ORPHA:2246
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy OMIM:610951
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dysphagia, Dystonia OMIM:271930
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Irritability, Dystonia, Abnor... ORPHA:457205
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Polyembryoma
Abnormal peritoneum morphology, Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... ORPHA:3156
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Dementia, Optic atrophy OMIM:182830
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Premature ovarian insufficiency, Optic atrophy, Depression, Amenorrhea OMIM:619425
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macroorchidi... OMIM:309520
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Depression, Attention deficit hyperactivity disorder, Prolonged neonata... ORPHA:90674
Merrf
Optic atrophy, Cognitive impairment ORPHA:551
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Cataract, Premature ovarian insuff... ORPHA:79239
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Hsd10 Mitochondrial Disease
Restlessness, Progressive neurologic deterioration, Aggressive behavior, Optic atrophy, Abnormal ... OMIM:300438
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Emotional... ORPHA:98890
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Intention tremor ORPHA:466794
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Hyperactivity, Optic atrophy OMIM:274270
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d... ORPHA:363741
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia OMIM:615085
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Leber Optic Atrophy And Dystonia
Optic atrophy, Dysphagia, Athetosis, Dementia, Leber optic atrophy, Dystonia OMIM:500001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis,... ORPHA:79312
Cach Syndrome
Cataract, Premature ovarian insufficiency, Progressive neurologic deterioration, Optic atrophy, S... ORPHA:135
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy, Dysphagia, Mental deterioration OMIM:164500
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Attention de... OMIM:261600
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Tremor, Depression, Memory impairm... ORPHA:79095
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dystonia, Dysphagia, Pancreatitis OMIM:618230
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Cln3 Disease
Cataract, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Dep... ORPHA:228346
Leukoencephalopathy With Vanishing White Matter 4
Primary amenorrhea, Optic atrophy, Secondary amenorrhea OMIM:620314
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Congenital hepatic fibrosis, Cryptorchidism, Displacement of the u... ORPHA:2377
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Severe temper tantrums, Hemidystonia OMIM:619052
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... ORPHA:90790
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Mucolipidosis Iv
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... OMIM:252650
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hypercholestero... ORPHA:247585
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Tremor, Optic atrophy, Dementia, Abnormal autonomic nervous system physiolog... ORPHA:329284
Spastic Paraplegia Type 7
Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology, Attention deficit hyperactiv... ORPHA:99013
3-Methylglutaconic Aciduria, Type I
Short attention span, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia, Self-mu... OMIM:250950
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Intention tremor OMIM:620221
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Aggressive behavior, Tremor, Abnormality ... ORPHA:97229
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Cognitive impairment OMIM:258501
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... OMIM:610198
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, T... ORPHA:289494
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Microcephaly, Amish Type
Hypoplasia of the fovea, Hepatomegaly, Optic atrophy, Irritability OMIM:607196
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormal autonomic nervous system physiology, Cognitive impairment, ... ORPHA:261318
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy ORPHA:44
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotr... ORPHA:79237
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Progressive neurologic deterioration, Tremor, Optic atrophy, Depression, D... ORPHA:254881
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Progressive psychomotor... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... ORPHA:649929
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... ORPHA:324737
Stt3B-Cdg
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia ORPHA:370924
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly, Depres... ORPHA:309288
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia OMIM:615597
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, De... OMIM:271245
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati... ORPHA:79264
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology, Dysphagia ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Dystonia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia, Pancreatit... ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Optic atrophy, Dysphagia, Irritability, Dystonia OMIM:618226
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopat... OMIM:222300
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Cataract, Optic atrophy, Cognitive impairment OMIM:270800
Optic Atrophy 11
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Athetosis, S... OMIM:617302
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Facial palsy, Optic atrophy, Depression, Optic neuritis, Cognitive i... ORPHA:254886
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy, Depression OMIM:248000
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Myotonic Dystrophy 1
Cataract, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, T... OMIM:160900
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne... ORPHA:88628
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... OMIM:249270
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, Tremor,... OMIM:615673
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Infantile Refsum Disease
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Rod-cone dystrophy ORPHA:772
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Emotional lability, Primary... OMIM:603896
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chor... ORPHA:494344
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Polydipsi... OMIM:615986
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Dementia, Hypogonadism, Cognit... ORPHA:98673
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritabili... ORPHA:644
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Zellweger Syndrome
Hepatomegaly, Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opacity... ORPHA:912
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Coloboma, Dysphagia OMIM:612379
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Spastic Ataxia 4, Autosomal Recessive
Emotional lability, Optic atrophy OMIM:613672
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Dysphagia, Prolonged neonatal jaundice, Dystonia, Mental deterioration OMIM:618868
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Classic Phenylketonuria
Cataract, Tremor, Depression, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:79254
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Imp... ORPHA:35069
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Optic atrophy, Oromandibular d... ORPHA:52368
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low... ORPHA:363686
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Retinal degen... ORPHA:157850
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... ORPHA:496790
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Dysphagia, Cherry red... ORPHA:93399
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... ORPHA:1173
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Dysphagia, Opisthotonus, Pigmentary retinopathy, Attenti... ORPHA:216866
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... ORPHA:1359
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Reduced s... OMIM:615434
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, Testicu... ORPHA:744
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Cataract, Hypospadias, Aggressive behavior, Cryptorchidism, ... OMIM:123450
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Choreoathetosis, Leukopenia, Pa... ORPHA:27
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Stankiewicz-Isidor Syndrome
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl sc... OMIM:617516
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat... OMIM:608804
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, T lymphocytopen... OMIM:619313
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustra... OMIM:612469
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti... ORPHA:649
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Aniridia, Micropenis OMIM:602361
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Impulsivity, Precocious puberty, Bruxism, Agitation, Attention deficit hyperactivity disorder, Dy... OMIM:619950
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Joubert Syndrome 9
Retinal dystrophy, Hepatic fibrosis, Astigmatism, Cataract OMIM:612285
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Optic atrophy, Hypospadias, Intention tremor OMIM:618688
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Astig... OMIM:619471
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Emotional lability OMIM:256000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy OMIM:258700
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Optic atrophy, Hypogonadism, Dystonia, Rod-cone dystrophy ORPHA:254913
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Cholecystitis, Dysto... OMIM:250100
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Irritability, Cholestatic liver disease, Steatorr... ORPHA:92050
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Keratitis, Splenomegaly, Jaundice, Tr... ORPHA:525731
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Developm... OMIM:615663
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly... OMIM:216360
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp... OMIM:617053
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Galactosemia I
Hepatomegaly, Hemolytic anemia, Cataract, Premature ovarian insufficiency, Elevated circulating a... OMIM:230400
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Splenomegaly OMIM:252920
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Thrombocytopenia ORPHA:49827
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Generalized dystonia, Writer's cramp, Tremor, Head titubation, Optic a... OMIM:312080
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega... ORPHA:93400
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... ORPHA:401777
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Progressive neurologic deterioration, Optic atrophy, Dysphagia, Irritability, Neutro... OMIM:618253
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Xanthelasma, Pseudobulbar paralysis, Dementia, Abnormality of centra... OMIM:213700
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Motor deterioration, Dysphagia, Rod-cone dystrophy OMIM:252930
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctu... OMIM:610377
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Progressive language deteri... ORPHA:163681
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Warburg Micro Syndrome 3
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Metachromatic Leukodystrophy, Adult Form
Short attention span, Dystonia, Decreased nerve conduction velocity, Optic atrophy, Progressive p... ORPHA:309271
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tremor, Optic atrophy,... OMIM:614298
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, Increas... OMIM:261680
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretinal coloboma, I... ORPHA:139471
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Triploidy
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi... ORPHA:3376
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,... ORPHA:1451
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte... OMIM:619487
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O... OMIM:609033
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... OMIM:598500
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract, Dysphagia OMIM:619780
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Primary amenorrhea, Abnormal op... ORPHA:293967
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Optic atrophy, Conjunctivitis, Anemia ORPHA:575
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Cognitive impairment ORPHA:588
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Progressive psychomotor deterioration, Optic atrophy, Sea-blue histio... OMIM:230600
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Distal Deletion 13Q
Ambiguous genitalia, Optic atrophy, Iris coloboma, Cognitive impairment ORPHA:1590
Angelman Syndrome
Keratoconus, Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior... ORPHA:72
Transketolase Deficiency
Hepatomegaly, Cataract, Secondary amenorrhea, Self-injurious behavior, Conjunctivitis, Attention ... ORPHA:488618
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Sple... OMIM:615512
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Hand tremor, Dysphagia, Dystonia, Mental deterioration, Motor axonal neuropathy ORPHA:289560
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,... ORPHA:564
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309263
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Retinal dystrophy, Aplastic anemia, Pancreat... OMIM:617052
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Vitreous hemor... OMIM:620185
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h... OMIM:240300
Aspartylglucosaminuria
Hepatomegaly, Cataract, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Iri... ORPHA:3301
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart... OMIM:614866
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Facial p... OMIM:259700
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Abnormal repetitive mannerisms, Oppositional defiant disord... ORPHA:580
Cerebral Visual Impairment
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... ORPHA:447788
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Emotional lability, Corneal ulceration, Abnormal auto... OMIM:256800
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Optic disc pallor, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Spleno... OMIM:259720
Werner Syndrome
Cataract, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, El... OMIM:277700
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Precocious puberty, Tremor, Cherry red spot o... ORPHA:845
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ... OMIM:209900
Leber Optic Atrophy
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... OMIM:535000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... OMIM:609541
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Optic atrophy, Hypopl... ORPHA:261552
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory action po... ORPHA:2388
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Optic atrophy, Dysphagia, Dystonia, Mental dete... OMIM:610217
Intermediate Uveitis
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... ORPHA:279914
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Joubert Syndrome 8
Hepatomegaly, Pigmentary retinopathy, Optic disc pallor, Prolonged neonatal jaundice OMIM:612291
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly ORPHA:466934
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Tremo... ORPHA:90321
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Acanthocytosis, Tremor, Optic atrophy, Phonic tics, Depression, Choreo... OMIM:234200
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Cerebrotendinous Xanthomatosis
Axonal degeneration, Progressive psychomotor deterioration, Juvenile cataract, Depression, Cognit... ORPHA:909
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Amish Lethal Microcephaly
Hepatomegaly, Optic atrophy, Irritability ORPHA:99742
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Macroorchidism ORPHA:93
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch... OMIM:236670
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Progressive neurologic deterioration, Chorioretinal hyperpigmentat... OMIM:618329
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ... OMIM:207800
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy OMIM:601539
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Cataract, Corneal opacity, Progressive neurologic deterioration, Ade... ORPHA:581
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, He... OMIM:213300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, He... ORPHA:79330
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re... OMIM:243605
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoke... OMIM:216400
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Dysphagia, Blepharospasm, Athetosis, Pigmentary retinopathy, Dy... OMIM:617282
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Optic disc pallor, Nodular ... ORPHA:404454
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Dystonia, Emotional lability ORPHA:309256
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystroph... ORPHA:90324
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat... ORPHA:394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Developmental catar... OMIM:613154
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory im... ORPHA:314404
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Conjunctivitis, Optic atrophy OMIM:253260
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchid... ORPHA:847
Chops Syndrome
Splenomegaly, Cataract, Optic atrophy, Cryptorchidism OMIM:616368
Cockayne Syndrome
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Intention tremor, Hepatomegal... ORPHA:191
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Decreased li... OMIM:614863
Wolfram Syndrome 2
Optic neuropathy, Optic atrophy, Primary amenorrhea, Depression, Oligomenorrhea OMIM:604928
Osteopetrosis, Autosomal Recessive 9
Papilledema, Hyperparathyroidism, Anemia OMIM:620366
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Legius Syndrome
Short attention span, Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Neurofibroma, ... ORPHA:137605
Wolfram Syndrome
Abnormal mesentery morphology, Optic atrophy, Dementia, Hypogonadism, Abnormal autonomic nervous ... ORPHA:3463
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... OMIM:147791
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
De Sanctis-Cacchione Syndrome
Keratitis, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Gonadal hypoplasia, Chor... OMIM:278800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... OMIM:615688
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L... OMIM:260920
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Papilledema, Thrombocytopenia OMIM:618775
Alagille Syndrome 1
Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Hepatocellu... OMIM:118450
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Corneal opacity, Abnormal pupil morpholo... ORPHA:1764
Pagod Syndrome
Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital... ORPHA:991
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism OMIM:610651
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Cockayne Syndrome B
Hepatomegaly, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ner... OMIM:133540
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... OMIM:614077
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt... OMIM:305000
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Aggressive behavior, Tremor, Optic atrophy, Head-ban... ORPHA:86309
Chromosome 15Q25 Deletion Syndrome