banner
Genes Phenotypes Help, News, Blog

Gene: Plxna4 MGI:2179061

Log in to follow

Gene Summary

Name:
plexin A4
Synonyms:
Plxa4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Plxna4em1(IMPC)Mbp HOM   Early adult 1.41×10-08
increased exploration in new environment Plxna4em1(IMPC)Mbp HOM Early adult 5.82×10-05
abnormal optic disk morphology Plxna4em1(IMPC)Mbp HOM Early adult 9.82×10-05
abnormal cholesterol homeostasis Plxna4em1(IMPC)Mbp HOM Early adult 1.39×10-05
abnormal spleen morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Plxna4em1(IMPC)Mbp HOM Early adult 3.63×10-07
impaired pupillary reflex Plxna4em1(IMPC)Mbp HOM   Early adult 5.25×10-06
abnormal testis morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Plxna4em1(IMPC)Mbp HOM Early adult 0.00
small liver Plxna4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Plxna4em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Plxna4em1(IMPC)Mbp HOM Early adult 1.09×10-09
persistence of hyaloid vascular system Plxna4em1(IMPC)Mbp HOM Early adult 2.04×10-05
enlarged testis Plxna4em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Plxna4em1(IMPC)Mbp HOM Early adult 8.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View 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
Hypoplasia of the corpus callosum, Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the ... OMIM:600638
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Optic nerve hypoplasia, Neurogenic bladder, Pachygyria, Abnormality of the ... ORPHA:572013
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Ab... ORPHA:3077
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Psychomotor deterioration, Rod-cone dystrophy OMIM:609055
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Lower cranial nerve dysfunction, Abnormal cranial nerve phys... ORPHA:90117
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Aplasia/Hypoplasia of the cerebral white matter, Faci... ORPHA:268940
Familial Peripheral Male-Limited Precocious Puberty
Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivity disorder, Macroo... ORPHA:3000
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Tremor, Optic disc pallor OMIM:165300
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Schwannoma, Cranial nerve compression ORPHA:221098
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Juvenile cataract, Resting tremor, Emotional lability, Tremor, Dystonia, Restl... OMIM:300055
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Oromandibular dystonia, Depression, Emotional lability, Tremor, Comp... ORPHA:216873
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
47,Xyy Syndrome
Congenital stationary night blindness, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, ... ORPHA:8
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... OMIM:300624
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Mental deterioration, Retinal dystrophy OMIM:614706
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Cognitive impairment, Dysphagia, Dementia, ... ORPHA:329314
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Optic disc pallor OMIM:614296
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Fragile X Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Irritability, Macroorchidism ORPHA:908
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Tremor, Cataract, Hypergonadotropic hypogonadism, Intention tremor, Abnormality of th... OMIM:614307
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Leber Congenital Amaurosis 1
Hepatomegaly, Eye poking, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal ... OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Dementia, Cataract, Retinal degenera... OMIM:204200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Tremor, Dystonia, Mental deterioration OMIM:615924
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor... ORPHA:250972
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Polyneuritis, Faci... ORPHA:297
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract, Memory impairment OMIM:620312
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:264470
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Polycystic ovaries, Macroorchidism ORPHA:284180
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dystonia, Dysphagia, Cognitive impairment ORPHA:1171
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204100
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Athetosis, Dystonia, Cryptorchidism, Hypogonadotropic hypogonadism, Mental deterio... OMIM:619310
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly, Optic disc pallor, Cryptorchidism OMIM:613730
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cognitive impairment ORPHA:2246
Wolfram-Like Syndrome
Optic atrophy, Depression, Peripheral axonal neuropathy, Dementia, Male hypogonadism ORPHA:411590
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Irritability, Depression, Macular degeneration, Vacuolated lymphocytes, Retinal de... OMIM:256730
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Tremor, Decreased number of periphera... OMIM:609260
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Striatonigral Degeneration, Infantile
Optic atrophy, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Abnormal testis morphology, Prec... ORPHA:562
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Mental deterioration, Retinopathy, Pigmentary retinopathy OMIM:610951
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Premature pubarche, Sensory axo... ORPHA:457205
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Hyperactivity, Aggressive behavior OMIM:300983
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor, Dementia OMIM:182830
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Attention ... ORPHA:90674
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Macroorchidis... OMIM:309520
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Merrf
Optic atrophy, Cognitive impairment ORPHA:551
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Intention tremor, Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... ORPHA:268882
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal peritoneum morphology ORPHA:180229
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Intention tremor, Choreoa... ORPHA:98890
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pallor OMIM:616171
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Leber Optic Atrophy And Dystonia
Optic atrophy, Dementia, Athetosis, Dystonia, Dysphagia, Leber optic atrophy OMIM:500001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Dystonia, Thrombocytopenia, Splenome... ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Igg4-Related Ophthalmic Disease
Trigeminal anesthesia, Abnormality of infra-orbital nerve, Trigeminal neuralgia, Abnormal fifth c... ORPHA:449563
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Hyperactivity OMIM:274270
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Mental deterioration, Tremor, Dysphagia, Pigmentary retinopathy OMIM:164500
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Axial dystonia, Dystonia, Dysphagia, Optic disc pallor OMIM:618230
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Restlessness, Progressive neurologic deterioration, Retinal degeneratio... OMIM:300438
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Congenital hepatic fibrosis, Cataract, ... ORPHA:2377
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Cach Syndrome
Optic atrophy, Gonadal dysgenesis, Irritability, Pancreatitis, Optic neuritis, Cognitive impairme... ORPHA:135
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corne... OMIM:152950
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Severe temper tantrums, Hemidystonia OMIM:619052
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Dystonia, Progressive neurologic deterioration, Opacification of ... OMIM:252650
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Hyperlysinemia, Type I
Anemia, Hyperactivity, Optic nerve hypoplasia, Short attention span, Cognitive impairment, Ectopi... OMIM:238700
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Vitreous hemorrhage, Chorioretinal atroph... ORPHA:891
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Dementia, Aggressi... ORPHA:329284
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Dementia, Retinal detachment, Corneal opacity, Hyp... OMIM:310600
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Tremor, Facial palsy, Abn... ORPHA:97229
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Athetosis, Short attention span, Cognitive impairment, Dystonia, Dementia, Self-mu... OMIM:250950
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Cognitive impairment OMIM:258501
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Dysphagia, Intention tremor OMIM:620221
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
4H Leukodystrophy
Optic atrophy, Decreased response to growth hormone stimulation test, Tremor, Dystonia, Dysphagia... ORPHA:289494
Classic Galactosemia
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Postural tremor,... ORPHA:79239
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Hypospadias, Microvesicular hepatic steatosis, Elevated circulating alanine aminot... OMIM:610198
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Elevated circulating hepati... ORPHA:324737
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormal peripheral ... ORPHA:168563
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Microcephaly, Amish Type
Optic atrophy, Irritability, Hepatomegaly, Hypoplasia of the fovea OMIM:607196
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Trisomy 20P
Hypospadias, Abnormal autonomic nervous system physiology, Cognitive impairment, Cryptorchidism, ... ORPHA:261318
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy, Depression OMIM:619425
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the liver, Cataract ORPHA:44
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Depression, Sensory axonal neuropathy, Tremor, Dystonia, Acute hepatic failure, Pr... ORPHA:254881
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Stt3B-Cdg
Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto... ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Hepatomegaly, Pancreatitis, Abnormal eating behavior, Elevate... ORPHA:247585
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, ... ORPHA:585
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Cataract, Nuclear cataract, Psy... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Progressive psychomotor deterioration, Hyperactivi... ORPHA:363400
Spastic Paraplegia Type 7
Optic atrophy, Memory impairment, Dysphagia, Attention deficit hyperactivity disorder, Optic disc... ORPHA:99013
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Athetosis, Elevated circulating alanine aminotransferas... OMIM:271245
Alpha-Mannosidosis, Adult Form
Pancytopenia, Depression, Confusion, Corneal opacity, Hepatosplenomegaly, Cataract, Optic disc pa... ORPHA:309288
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Motor deterioration, Cognitive impairment... ORPHA:79264
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia, Abnormal retinal morphology ORPHA:89844
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Dystonia, Thrombocytopenia, Choreoathetosis, N... ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Irritability, Hepatomegaly, Dystonia, Dysphagia OMIM:618226
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Retrobulbar optic neuritis ORPHA:3151
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cognitive impairment, Cataract, Postural tremor OMIM:270800
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Depression, Optic neuritis, Sensory axonal neuropathy, Facial palsy, Cognitive imp... ORPHA:254886
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Macrocytic anemia, Temporal optic disc pallor, Dementia, Cognitive impairment, Dys... ORPHA:98673
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Facial diplegia, Dysphagia, Hypogonadism, Cataract, T... OMIM:160900
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Narp Syndrome
Irritability, Retinal pigment epithelial mottling, Dementia, Rod-cone dystrophy, Retinal arteriol... ORPHA:644
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Thrombocytopenia, Retinal degenerat... OMIM:249270
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Myopathy With Extrapyramidal Signs
Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperactivi... OMIM:615673
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Abnormal sensory nerve conduction velocity, Abnormal peripheral nerve morpho... ORPHA:88628
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Clitoral hypertrophy, Jaundice, Hepatomegaly, H... ORPHA:912
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Tremor, Sideroblastic anemia, Thrombocytopenia, Dysphagia, C... OMIM:222300
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Cataract, Rod-cone dystrophy ORPHA:772
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Hypospadias, Cryptorchidism, Chorioretinal coloboma, Dysphagia, Atten... ORPHA:494344
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Optic atrophy, Prolonged neonatal jaundice, Dystonia, Dysphagia, Mental deterioration OMIM:618868
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Astigmatism, Hypospadias, Hyperactivity, Optic nerve hypoplasia, Low ... ORPHA:363686
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Emotional lability OMIM:613672
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Elevated circulating hepatic transaminase concentration, Coloboma, Dysphagia, Cata... OMIM:612379
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Classic Phenylketonuria
Memory impairment, Depression, Mental deterioration, Tremor, Attention deficit hyperactivity diso... ORPHA:79254
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Pigmentary retinopathy, Cognitive impairment, Opisthotonus, Dysphagia, Atte... ORPHA:216866
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micro... OMIM:610125
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Thrombocytopenia, C... ORPHA:448237
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Peripheral axonal neuropathy, Emotional lability, Abnormal autonomi... ORPHA:35069
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Dementia, Supernumerary nipple,... ORPHA:1173
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, Abnormal optic disc morphology, Shawl scrotum, Cryptorchidism, Microp... OMIM:617516
Mohr-Tranebjaerg Syndrome
Optic atrophy, Oromandibular dystonia, Generalized dystonia, Tremor, Absent brainstem auditory re... ORPHA:52368
Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Limb dystonia, Acanthocytosis, Optic atrophy, Depression, Compulsive behaviors, Dyst... ORPHA:157850
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Corneal opacity, Cataract, C... ORPHA:496790
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Aniridia, Asplenia OMIM:602361
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Cri-Du-Chat Syndrome
Optic atrophy, Hypospadias, Hyperactivity, Short attention span, Oppositional defiant disorder, M... OMIM:123450
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Hepatosplenomegaly, Dysphagia, Cherry red spot of t... ORPHA:93399
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Head titubation, Hypospadias, Intention tremor OMIM:618688
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Leukopenia, Thrombocytopeni... ORPHA:27
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Developmental cataract,... OMIM:620141
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Low frustration tolerance, Abnormality of the testis si... ORPHA:99330
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Wagro Syndrome
Agitation, Hypoplastic female external genitalia, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Sensory axonal neuropathy, Facial palsy, Intention tremor, Cognitive impairment, H... OMIM:608804
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Dystonia, Hypogonadism, Cataract, Rod-cone dystrophy ORPHA:254913
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Intention tremor, Catar... OMIM:612674
Mirage Syndrome
Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Microphallus, Hyp... OMIM:617053
Bardet-Biedl Syndrome 20
Astigmatism, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypercholeste... OMIM:619471
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Agitation, Stereotypical hand wringing, Impulsivity, Precocious puberty, Dystonia, Macroorchidism... OMIM:619950
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Opticocochleodentate Degeneration
Optic atrophy, Mental deterioration OMIM:258700
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism, Retinal dystrophy OMIM:612285
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Optic Atrophy 14
Optic disc pallor OMIM:620550
Congenital Tufting Enteropathy
Cholestatic liver disease, Irritability, Steatorrhea, Corneal erosion, Punctate keratitis, Optic ... ORPHA:92050
Leigh Syndrome
Optic atrophy, Emotional lability, Hepatocellular necrosis, Dystonia, Pigmentary retinopathy OMIM:256000
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro... ORPHA:699
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gallbladder dysfunction, Emotional lability, ... OMIM:250100
Bardet-Biedl Syndrome 9
Polydipsia, Bone spicule pigmentation of the retina, Astigmatism, Polyphagia, Attenuation of reti... OMIM:615986
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... ORPHA:525731
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Irritability, Abnormal vitreous humor morpholog... ORPHA:649
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Hypochromic microcytic anemia, Elevated circulating hepatic transaminase concentra... ORPHA:66634
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... OMIM:216360
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Decreased testicular size, Developmental cataract, Small scrotum, Dec... OMIM:615663
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Irritability, Hypospadias, Craniofacial dystonia, Dysphagia, Progressive neurologi... OMIM:618253
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Anorexia, Retinal dystrophy, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:230400
Pelizaeus-Merzbacher Disease
Optic atrophy, Writer's cramp, Depression, Tremor, Intention tremor, Cognitive impairment, Head t... OMIM:312080
Proteus Syndrome
Retinal hamartoma, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonatt... ORPHA:744
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus, Compulsive behaviors, ... ORPHA:401777
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, Stereotypical h... ORPHA:163681
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, Developmental c... ORPHA:93400
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Warburg Micro Syndrome 3
Optic atrophy, Small scrotum, Microcornea, Hypoplastic labia minora, Decreased testicular size, S... OMIM:614222
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Cerebrotendinous Xanthomatosis
Xanthelasma, Cholelithiasis, Optic disc pallor, Dementia, Cataract, Delayed somatosensory central... OMIM:213700
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re... ORPHA:98977
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Proteus-Like Syndrome
Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb... ORPHA:2969
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Rod-cone dystrophy, Motor deterioration OMIM:252930
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Memory... ORPHA:309271
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Cataract, Ambiguo... ORPHA:3376
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Mic... ORPHA:899
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr... OMIM:614225
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase conc... OMIM:619487
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Oromandibular dystonia, Depression, Emotional lability, Tremor, Impulsivity, Dysto... OMIM:614298
49,Xxxyy Syndrome
External genital hypoplasia, Low frustration tolerance, Abnormality of the testis size, Decreased... ORPHA:261534
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, I... ORPHA:139471
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic... OMIM:261680
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Megaloblastic anemia, Abnormal autonomic nervous system physiology, Sideroblastic ... OMIM:598500
Distal Deletion 13Q
Optic atrophy, Ambiguous genitalia, Cognitive impairment, Iris coloboma ORPHA:1590
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysphagia, Mental deterioration OMIM:619780
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal atrophy, Hypochromia, Photoreceptor laye... OMIM:616959
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Memory impairment, Faci... ORPHA:637
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Decreased corneal thickness, Abnormal optic disc morpholog... ORPHA:293967
Muckle-Wells Syndrome
Optic atrophy, Hepatomegaly, Anemia, Splenomegaly, Conjunctivitis ORPHA:575
Wildervanck Syndrome
Lens subluxation, Facial palsy, Pseudopapilledema ORPHA:3456
Micro Syndrome
Optic atrophy, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retinal coloboma, Clit... ORPHA:2510
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Muscle-Eye-Brain Disease
Optic atrophy, Cataract, Cognitive impairment ORPHA:588
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Accessory spleen, Microcornea, Asplenia, Male p... ORPHA:564
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Sea-blue histiocytosis, Hepatomegaly, Progressive psychomotor deterioration, Splen... OMIM:230600
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Mucopolysaccharidosis Type 2
Hyperactivity, Corneal opacity, Impulsivity, Cognitive impairment, Retinopathy, Abnormal foveal m... ORPHA:580
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Dystonia, Dysphagia, Motor axonal neuropathy, Hand tremor, Mental deterioration ORPHA:289560
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Anemia, Pancytopenia, Cranial nerve compression, Hepatosplenomegaly, Thrombocytope... OMIM:259710
Angelman Syndrome
Optic atrophy, Astigmatism, Precocious puberty in females, Tongue thrusting, Hyperactivity, Kerat... ORPHA:72
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Emotio... ORPHA:309263
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, ... OMIM:614866
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Aganglionic megacolon, Retinal dystrophy, H... OMIM:209900
Atelis Syndrome 2
Vitreous hemorrhage, Anemia, Remnants of the hyaloid vascular system, Thrombocytopenia, Developme... OMIM:620185
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Panc... OMIM:617052
Legius Syndrome
Xanthelasma, Ovarian neoplasm, Hyperactivity, Acute monocytic leukemia, Short attention span, Cog... ORPHA:137605
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Iri... ORPHA:3301
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Decreased numb... OMIM:256800
Cerebral Visual Impairment
Optic atrophy, Retinopathy of prematurity, Optic nerve hypoplasia, Short attention span, Increase... ORPHA:447788
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Dystonia, Leber opti... OMIM:535000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Perifoveal ring of hyperautofluores... OMIM:240300
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Panc... OMIM:259720
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Sensory axonal neuropathy, Exaggerated startle response, Motor axonal neuropathy, ... OMIM:609541
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Cataract, Macroorchidism, Neutropenia OMIM:208400
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Facial palsy, Thrombocytopenia, Splenomegaly, ... OMIM:259700
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie... ORPHA:3205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Optic atrophy, Aganglionic megacolon, ... ORPHA:261552
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Exaggerated startle response, Decreased number of pe... ORPHA:320406
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Optic disc pallor, Attenuation of ... OMIM:612095
Cerebrotendinous Xanthomatosis
Cognitive impairment, Prolonged neonatal jaundice, Aggressive behavior, Optic atrophy, Agitation,... ORPHA:909
Amish Lethal Microcephaly
Optic atrophy, Irritability, Hepatomegaly ORPHA:99742
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Tre... ORPHA:90321
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Emotional lability, Short attention span, Impulsivity, Intention tr... OMIM:610217
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,... OMIM:269200
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Optic disc pallor, H... OMIM:614195
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Dementia, Hyperactivity, Depression, Mental deteriorat... OMIM:234200
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Cirrhosis, Hepatomegaly, Hepatic fibrosis, Rod-cone dystrophy OMIM:601539
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal temper tantrums, Hepatomegaly, Recurrent tonsillitis, Dementia, Hyperacti... ORPHA:581
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic ... OMIM:618329
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Macroorchidism ORPHA:93
Joubert Syndrome 1
Retinal dysplasia, Retinal dystrophy, Hyperactivity, Chorioretinal coloboma, Optic disc coloboma,... OMIM:213300
Argininemia
Anorexia, Irritability, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Hyp... OMIM:207800
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Retinal a... OMIM:236670
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Congenital Disorder Of Glycosylation, Type Iib
Optic atrophy, Hypoplastic female external genitalia, Hepatomegaly, Elevated circulating aspartat... OMIM:606056
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Absent brainstem auditory responses, Dy... ORPHA:79330
Transketolase Deficiency
Hepatomegaly, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, C... ORPHA:488618
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Dementia, Abnormal peripheral m... OMIM:216400
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Peters anomaly, Re... OMIM:243605
Leprosy
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology, Enlarged perip... ORPHA:548
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Athetosis, Blepharospasm, Pigmentary retinopathy, Craniofacial dystonia, Dystonia,... OMIM:617282
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Eye poking, Pigmentary retinopathy, Attenuation of retinal blood ... OMIM:613843
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Aganglionic megacolon, Anemia, Ambiguous genitalia, Hypoplasia of penis, Depressio... ORPHA:847
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Corneal neovascularization, Hepatomegaly, Elevated circulating hepatic transaminas... ORPHA:404454
Cockayne Syndrome Type 3
Hepatomegaly, Keratoconjunctivitis sicca, Elevated circulating hepatic transaminase concentration... ORPHA:90324
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Dystonia, Cholecystitis ORPHA:309256
Osteopetrosis, Autosomal Recessive 9
Papilledema, Anemia, Hyperparathyroidism OMIM:620366
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, R... ORPHA:394
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Memory impairment, Resting tremor, Depression, Head tremor, Cataract, Mental deter... ORPHA:314404
Cockayne Syndrome
Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cognitive impairment, A... ORPHA:191
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Chops Syndrome
Optic atrophy, Cryptorchidism, Splenomegaly, Cataract OMIM:616368
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased liver function, Decreased nerve conduction velocity, Hepatomegaly, Retin... OMIM:614863
Pagod Syndrome
Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the splee... ORPHA:991
Biotinidase Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly, Conjunctivitis OMIM:253260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Elevated circulating aspartate aminotra... OMIM:613154
Wolfram Syndrome
Optic atrophy, Polydipsia, Anemia, Abnormal autonomic nervous system physiology, Abnormal mesente... ORPHA:3463
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Hypospadias, Labial hypoplasia, Microcornea, Clitoral hypoplasia... OMIM:147791
Congenital Syphilis
Optic atrophy, Pancreatitis, Anemia, Lymphadenopathy, Chorioretinitis, Prolonged neonatal jaundic... ORPHA:499009
De Sanctis-Cacchione Syndrome
Optic atrophy, Axonal degeneration, Bilateral cryptorchidism, Keratitis, Gonadal hypoplasia, Conj... OMIM:278800
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:610651
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra... OMIM:615688
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod... OMIM:260920
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Corneal ... ORPHA:1764
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract OMIM:616562
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Wolfram Syndrome 2
Optic atrophy, Depression, Optic neuropathy OMIM:604928
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Microcornea, Abnormal periphera... OMIM:133540
Dpagt1-Cdg
Optic atrophy, Emotional blunting, Hepatomegaly, Anemia, Astigmatism, Elevated circulating hepati... ORPHA:86309
Alagille Syndrome 1
Hypertriglyceridemia, Abnormal anterior chamber morphology, Cirrhosis, Elevated circulating hepat... OMIM:118450
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Retinal detachment, Adrenal pheochromocytom... ORPHA:892
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Splenomegaly OMIM:612301
Microphthalmia, Syndromic 3
Hypospadias, Optic nerve hypoplasia, Coloboma, Anterior pituitary hypoplasia, Optic nerve aplasia... OMIM:206900
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anisocoria,... OMIM:231550
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Anterior chamber cells, Retinal hemorrhage, Depigmented fu... ORPHA:79098
Tuberous Sclerosis Complex
Retinal hamartoma, Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma, Depression, Impul... ORPHA:805
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
7Q11.23 Microduplication Syndrome
Astigmatism, Hypospadias, Hyperactivity, Polyphagia, Abnormal optic disc morphology, Aplasia/hypo... ORPHA:96121
Phace Association
Optic atrophy, Optic nerve hypoplasia, Developmental cataract, Increased retinal vascularity, Lin... OMIM:606519
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, Leukocytosis, ... OMIM:619321
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal lens morphology, Abnormal optic disc morphology ORPHA:363417
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Congenital hypoparathyroidism, Retinal calcification, Decreased testicular size, Papilled... ORPHA:93325
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Dementia, Depression, Memory impairment OMIM:604121
Leptospirosis
Anorexia, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cotto... ORPHA:509
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Dysphagia, Splenomegaly, Cataract OMIM:617913
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, External genital hypoplasia, Jaundice, Elevated circulating hepatic transaminase c... OMIM:614231
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Corneal opacity, Pap... ORPHA:2072
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Retinal calcification, Papilledema, Developmental cataract OMIM:127000
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter... ORPHA:67036
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Attention deficit hyperactiv... OMIM:619539
1P36 Deletion Syndrome
Optic atrophy, Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypo... ORPHA:1606
Arima Syndrome
Optic atrophy, Polydipsia, Cirrhosis, Hepatomegaly, Anemia, Retinal dystrophy, Chorioretinal colo... OMIM:243910
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, F... ORPHA:90340
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Coloboma, Facial palsy, Retinal coloboma, Abnormal optic dis... ORPHA:508498
Knobloch Syndrome 1
Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre... OMIM:267750
Camurati-Engelmann Disease
Optic atrophy, Anorexia, Hepatomegaly, Anemia, Optic nerve compression, Facial palsy, Leukopenia,... ORPHA:1328
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Polycystic ovaries ORPHA:137675
Lymphangioleiomyomatosis
Optic atrophy, Retinal hamartoma, Lymphadenopathy, Abnormality of the lymphatic system, Cognitive... ORPHA:538
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Pineoblastoma
Memory impairment, Retinoblastoma, Cognitive impairment, Papilledema, Progressive neurologic dete... ORPHA:251909
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Retinopathy, Splenomegaly, Dysphagia OMIM:615636
African Trypanosomiasis
Irritability, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Optic neuritis, Tremor, Abnormal p... ORPHA:3385
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Retinal atrophy, Cranial nerve compression, Bo... ORPHA:2785
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Hypospadias, Retinal dystrophy, Abnormal... ORPHA:397715
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagin... OMIM:146255
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Vitreous hemorrhage, Choroidal neovascularizatio... ORPHA:91500
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Ramon Syndrome
Enlarged labia minora, Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170

Histopathology

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

There is no histopathology data for Plxna4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plxna4.

No publications found that use IMPC mice or data for Plxna4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Plxna4tm37345(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plxna4tm40385(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plxna4tm37345(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plxna4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Plxna4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Plxna4tm40385(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter