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Gene: Slc7a11 MGI:1347355

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Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 11
Synonyms:
xCT,  xc,  System xc,  9930009M05Rik,  sut

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
increased circulating glucose level Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05
abnormal optic disk morphology Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 3.71×10-05
abnormal auditory brainstem response Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 7.86×10-05
abnormal vitreous body morphology Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 2.18×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Slc7a11 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 Slc7a11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Hearing impairment, Progressive hearing impairment, Type II diabetes mellitus, Sen... OMIM:614296
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... OMIM:155100
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Optic Atrophy 2
Optic atrophy OMIM:311050
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ... OMIM:614076
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... OMIM:187900
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment OMIM:165300
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Olivopontocerebellar Atrophy-Deafness Syndrome
EEG abnormality, Optic atrophy, Hearing impairment, Chorioretinal coloboma ORPHA:2732
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, EEG with generalized polyspikes, Retinal dystrophy OMIM:614706
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Hermansky-Pudlak Syndrome 5
Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr... OMIM:614074
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo... OMIM:620478
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Acute monocyt... OMIM:601399
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Liberfarb Syndrome
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Retinal degeneration, Bone... OMIM:618889
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment ORPHA:1186
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Hearing impairment, Bull's eye maculopathy OMIM:614504
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Sensorineural hearing impairment OMIM:620086
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Hypopigmentation of the skin, Abnormal bleeding, Bruising susceptibility, Spon... OMIM:614072
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Abnormal retinal nerve ... ORPHA:1215
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Bilateral sensorineural hearing impairment, Papilledema, Retinal arteriolar constriction, Progres... OMIM:124950
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Leukocyt... ORPHA:3318
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Optic Atrophy 5
Optic atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials OMIM:610708
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Hearing impairment, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairmen... OMIM:520000
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility... OMIM:203300
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen OMIM:618632
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy, EEG abnormality OMIM:610951
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Wolfram-Like Syndrome
Optic atrophy, Congenital sensorineural hearing impairment, Glucose intolerance, Peripheral axona... ORPHA:411590
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, EEG with generalized epileptiform discharges, EEG with occipital epileptiform disc... OMIM:619323
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Optic Atrophy 14
Optic disc pallor OMIM:620550
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Hearing impairment OMIM:309555
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Peripapillary atrophy, Retinal pigment epithelial mottling, Ret... OMIM:617879
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Rod-cone dystrophy, Segmenta... OMIM:311070
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Axonal degeneration... OMIM:609260
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia OMIM:617830
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time ORPHA:638
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Hypsarrhythmia OMIM:618776
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Merrf
Optic atrophy, Sensorineural hearing impairment ORPHA:551
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... ORPHA:3226
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Hyperglycemia, Transient neonatal diabe... ORPHA:99886
Optic Atrophy 16
Temporal optic disc pallor, Sensorineural hearing impairment OMIM:620629
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, EEG abnormality, Retinal degeneration OMIM:614322
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy OMIM:619303
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Camos Syndrome
Optic atrophy ORPHA:83472
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Macrotia OMIM:300928
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity, Sensorineural hearing impairment OMIM:618768
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Fair hair, Enlarged platelet dense granules, Ocular albinism, ... OMIM:608233
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy, Hearing impairment ORPHA:178377
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Sensorineural hearing impairment ORPHA:1171
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral axonal neuropathy, Absent b... OMIM:617519
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling, Peripheral axonal neuropathy OMIM:619389
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Familial Exudative Vitreoretinopathy
Macular edema, Hearing impairment, Vitreoretinopathy, Subretinal fluid, Tractional retinal detach... ORPHA:891
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Albinism, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Mela... OMIM:619172
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Hypsarrhythmia, Optic atrophy OMIM:617086
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Aganglio... OMIM:600501
Hermansky-Pudlak Syndrome 6
Epistaxis, Hypopigmentation of the skin, Bruising susceptibility, Ocular albinism, Partial albini... OMIM:614075
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia ORPHA:104
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels, Hearing impairment OMIM:617082
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy OMIM:620312
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Craniodiaphyseal Dysplasia
Optic atrophy, Conductive hearing impairment ORPHA:1513
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:619260
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia OMIM:620195
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Sensorineural hearing impairment OMIM:612989
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Macular coloboma, Retinal dots, Attenuation o... OMIM:608553
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Hemimegalencephaly
Optic atrophy, Hemihypsarrhythmia, Interictal EEG abnormality, EEG with burst suppression, EEG wi... ORPHA:99802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, O... OMIM:251270
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Optic atrophy, Hearing impairment OMIM:609056
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Microphthalmia/Coloboma 12
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Canavan Disease
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, EEG abnormality, Abnormal... ORPHA:141
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Optic atrophy, Hypoglycemia, Retinal degeneration OMIM:300438
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Papilledema, Facial diplegia, Hearing impairment OMIM:122860
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment ORPHA:99014
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology, Sensorineural hea... OMIM:598500
Sclerosteosis
Optic atrophy, Facial palsy, Sensorineural hearing impairment ORPHA:3152
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peri... OMIM:604484
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Hearing impairment, Glycosuria, Sensorineural hearing impairment, Bone spicule pig... OMIM:268315
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation, Hearing impairment ORPHA:65
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma ORPHA:231736
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Retrobulbar optic neuritis, Hyperglycemia, Sensorineural hearing impairment OMIM:619737
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Alopecia, Leukopenia, Splenomegaly, Purpura, Hemolytic anemia, Prolo... ORPHA:809
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Peripheral axonal neuropathy, Hearing impairment, Abnormal autonomic nervous syste... OMIM:610743
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Sensorineural hearing impairment ORPHA:1473
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
3-Methylglutaconic Aciduria Type 9
Optic atrophy, Hypsarrhythmia, EEG abnormality ORPHA:505216
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Tractional reti... ORPHA:40923
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Bardet-Biedl Syndrome 9
Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentat... OMIM:615986
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Macs Syndrome
Alopecia, Sparse eyebrow, Bruising susceptibility, Sparse hair, Prolonged bleeding time OMIM:613075
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Diabetes mellitus, Retinal dystrophy, Sensorineural hearing impairment ORPHA:49827
Madras Motor Neuron Disease
Tinnitus, Optic atrophy, Facial palsy, Sensorineural hearing impairment ORPHA:137867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola... OMIM:600132
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hypoglycemia, EEG abnormality, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Diencephalic Syndrome
Optic atrophy, Macrotia ORPHA:1672
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Retinopathy,... ORPHA:552
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Mild neurosensory hearing impairment, A... OMIM:601152
Developmental And Epileptic Encephalopathy 47
Attenuation of retinal blood vessels, Hypsarrhythmia, EEG abnormality, Multifocal epileptiform di... OMIM:617166
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Neuronal Intranuclear Inclusion Disease
Optic atrophy, EEG abnormality ORPHA:2289
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Peripheral demyelination,... OMIM:245200
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy ORPHA:1021
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Diabetes mellitus, Sensorineural hearing impairment OMIM:604928
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Cone/cone-rod dystrophy, Retinal degeneration, D... OMIM:249270
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Hypsarrhythmia, Rod-cone dystrophy OMIM:617276
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased proportion of CD8-positiv... OMIM:301000
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, EEG abnormality ORPHA:3173
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Pseudopapilledema, Facial palsy ORPHA:3456
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, EEG with focal epileptiform discharges, Focal EEG discharges with secondary genera... ORPHA:263516
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinitis Pigmentosa
Optic atrophy, Conductive hearing impairment, Hyperinsulinemia, Attenuation of retinal blood vess... ORPHA:791
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Neonatal Adrenoleukodystrophy
Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineu... ORPHA:44
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Optic atrophy, Sensorineural hearing impairment, EEG abnormality, Abnormality of vi... ORPHA:2971
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Rod-cone dystrophy, Decreased nerve conduction velocity, Sensorineural hearing imp... OMIM:612674
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Hearing impairment OMIM:614651
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy OMIM:609541
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hyperinsulinemia, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hyperinsulinemia, Hypopigmentation of the skin ORPHA:71526
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves... OMIM:609033
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Aniridia 2
Optic atrophy OMIM:617141
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Bruising susceptibility, H... OMIM:214500
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Acquired Von Willebrand Syndrome
Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Bruising susceptib... ORPHA:99147
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti... OMIM:229300
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked pot... ORPHA:1187
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Zika Virus Disease
Optic disc hypoplasia, Retinal pigment epithelial mottling, Transient hearing impairment, Chorior... ORPHA:448237
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... ORPHA:49566
Hyperostosis Cranialis Interna
Tinnitus, Optic atrophy, Facial palsy, Sensorineural hearing impairment OMIM:144755
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Optic atrophy, Retinal degeneration OMIM:616896
Canavan Disease
Multifocal epileptiform discharges, Optic atrophy, Hypsarrhythmia, Hearing impairment OMIM:271900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Vestibular areflexia, Sensorineural hearing impairment ORPHA:504476
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Cerebral Visual Impairment
Optic atrophy, Increased cup-to-disc ratio, Retinopathy of prematurity, Optic disc pallor, Neonat... ORPHA:447788
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Noonan Syndrome 9
Sparse eyebrow, Prolonged prothrombin time, Curly hair OMIM:616559
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Hearing impairment ORPHA:2801
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy, Sensorineural hea... ORPHA:101076
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Relapsing Fever
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Prolonged prothrombin time, Neutrophilia,... ORPHA:91547
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, EEG abnorma... ORPHA:206448
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Hypoglycemia OMIM:608688
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Petechiae, Reticulocytosis, Prolon... ORPHA:2330
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy, Hearing impairment OMIM:618249
Donohue Syndrome
Low-set ears, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia, ... OMIM:246200
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Elevated circulating growth hormone concentration, Freckling, Red... OMIM:160980
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Abnormality of peripheral nerve conduc... ORPHA:90321
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Sensorineural hearing impairment, Diab... OMIM:222300
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Per... OMIM:609136
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Pancreatic And Cerebellar Agenesis
Low-set ears, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Abnormal pinna morphology, Optic ne... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Retinopathy, Axonal degeneration OMIM:616811
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... OMIM:216400
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Prolonge... ORPHA:64743
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Intellectual Developmental Disorder With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Aplasia/Hypoplasia of the earlobes, Optic atrophy, EEG abnormality, Absent earlobe OMIM:609037
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Short Syndrome
Low-set ears, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... OMIM:269880
Dend Syndrome
Hyperglycemia, Hypsarrhythmia, Thickened ears ORPHA:79134
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Optic atrophy, Chorioretinitis, Sensorineural hearing impairment ORPHA:294
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... ORPHA:91495
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Optic atrophy, Type II diabetes mellitus, Sensorineural hearing impairment OMIM:604121
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Peripheral dysmyelina... OMIM:133540
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste... OMIM:231550
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation ORPHA:320375
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentat... ORPHA:167
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... ORPHA:263479
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Abno... ORPHA:79430
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Rod-cone dy... OMIM:614863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysplasia, Mic... OMIM:614643
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Insulin-resistant diabetes mellitus, Congenital sensor... ORPHA:293967
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Peripheral schwannoma, Abnormal optic nerve morphology, Neuroma,... ORPHA:637
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Stankiewicz-Isidor Syndrome
Low-set ears, Abnormal optic disc morphology, Hearing impairment OMIM:617516
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity, Sensorineural hearing... OMIM:610651
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level OMIM:609734
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Oculo-Palato-Cerebral Syndrome
Thickened helices, Retinal detachment, Remnants of the hyaloid vascular system, Macrotia ORPHA:2714
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Cole Disease
Hyperglycemia OMIM:615522
Atelis Syndrome 2
Low-set ears, Hyperinsulinemia, Protruding ear, Vitreous hemorrhage, Remnants of the hyaloid vasc... OMIM:620185
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hearing impairment, Hyperglycemia, Reti... ORPHA:99885
Hellp Syndrome
Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Internal ... ORPHA:244242
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Diabetes mellitus, Impaired glucose... ORPHA:2088
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Reticular pigmen... ORPHA:1435
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Prolonged prothrombin time, Thrombocytopenia, Anemia OMIM:267700
Alstrom Syndrome
Pigmentary retinopathy, Progressive sensorineural hearing impairment, Insulin-resistant diabetes ... OMIM:203800
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Abnormal optic disc morphology, Severe sensorineural hearing impairment, Optic atrophy ORPHA:363417
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Prolonged prothromb... OMIM:603553
Sympathetic Ophthalmia
Macular edema, Hearing impairment, Vitreous floaters, Tinnitus, Papilledema, Retinal detachment, ... ORPHA:79098
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis OMIM:212750
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Syndromic Diarrhea
Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Uncomb... ORPHA:84064
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:99901
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Lipodystrophy, Familial Partial, Type 2
Enlarged peripheral nerve, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, ... OMIM:151660
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Neutropenia, Thrombocytopenia, Prolonged prothrombin time OMIM:616271
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, EEG with burst suppression, Hypsarrhythmia, Hyperglycemia OMIM:620423
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Diabetes mellitus ORPHA:465508
Monosomy 13Q34
Hematochezia, Horizontal eyebrow, Epistaxis, Prolonged prothrombin time ORPHA:96168
Norrie Disease
Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Sensorineural hearin... ORPHA:649
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Prolonged prothrombin time ORPHA:88618
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641