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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
abnormal vitreous body morphology Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 2.18×10-06
increased circulating glucose level Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 3.13×10-05
abnormal auditory brainstem response Slc7a11tm1b(EUCOMM)Wtsi HOM   Early adult 7.80×10-05
abnormal optic disk morphology Slc7a11tm1b(EUCOMM)Wtsi HOM Early adult 8.84×10-05

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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance, Optic atrophy OMIM:311100
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, G... OMIM:231200
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Hearing impairment, Optic atrophy OMIM:617717
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:155100
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Impaired glucose... OMIM:614296
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... OMIM:314050
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy 5
Optic atrophy OMIM:610708
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism, Post-partum hemorrhage, Bruising susceptibility, Impaired platelet agg... OMIM:614076
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
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
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Bruising susceptibility, Impaired platelet a... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Hearing impairment, Optic atrophy OMIM:617087
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia OMIM:185050
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Hearing impairment, Optic atrophy OMIM:165300
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hearing impairment, Optic atrophy, EEG abnormality ORPHA:2732
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... OMIM:601399
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, EEG with generalized polyspikes, Optic atrophy OMIM:614706
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregati... OMIM:614074
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism, Impaired ADP-induced platelet aggregatio... OMIM:614075
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... OMIM:618889
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:231393
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Hearing impairment, Optic atrophy ORPHA:1186
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge... ORPHA:182050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Sensorineural hearing impairment, Optic atrophy OMIM:620086
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Spontaneous, recurrent... OMIM:614072
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... OMIM:124950
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Optic Atrophy 6
Optic atrophy OMIM:258500
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Retinal degeneration, Type II diabetes mellitus, Hyperglycemia,... OMIM:520000
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... OMIM:607624
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen OMIM:618632
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Hearing impairment, Optic atrophy OMIM:309555
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, EEG abnormality OMIM:610951
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
EEG with occipital epileptiform discharges, EEG with generalized epileptiform discharges, Optic a... OMIM:619323
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment OMIM:614504
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... OMIM:617879
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Peripheral axonal neuropathy, Optic atrophy ORPHA:320360
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Hearin... OMIM:311070
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... OMIM:187800
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Optic atrophy OMIM:617830
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Mitochondrial Complex I Deficiency, Nuclear Type 34
Hypsarrhythmia, Optic disc pallor, Optic atrophy OMIM:618776
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Merrf
Sensorineural hearing impairment, Optic atrophy ORPHA:551
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time, Acute leukemi... ORPHA:3318
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Leukocytosis, Myelop... ORPHA:3226
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Optic atrophy OMIM:619303
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Camos Syndrome
Optic atrophy ORPHA:83472
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus OMIM:618856
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Optic atrophy OMIM:300928
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Hearing impairment, Optic atrophy, Facial palsy ORPHA:178377
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Periphera... OMIM:617519
Wolfram-Like Syndrome
Optic atrophy, Diabetes mellitus, Peripheral axonal neuropathy, Congenital sensorineural hearing ... ORPHA:411590
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Gen... OMIM:608233
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Cavitary Optic Disc Anomalies
Peripapillary atrophy OMIM:611543
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Sensorineural hearing impairment, Optic atrophy OMIM:618768
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Bruising ... OMIM:619172
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Wildervanck Syndrome
Hearing impairment, Pseudopapilledema OMIM:314600
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, EEG abnormality, Optic disc hypoplasia, Optic nerve hypoplasia, Chorioretinal ... ORPHA:137902
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Hypsarrhythmia, Optic disc pallor, Optic atrophy OMIM:617086
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Hearing impairment, Attenuation of retinal blood vessels OMIM:617082
Hemimegalencephaly
Optic atrophy, EEG with polyspike wave complexes, EEG with burst suppression, EEG with focal spik... ORPHA:99802
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... OMIM:300476
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy ORPHA:1513
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... OMIM:204100
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Essential Fructosuria
Hyperglycemia ORPHA:2056
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Abnormal auditory evoked potentials, Macu... OMIM:619260
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy OMIM:612989
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Chorioretinal dysplasia, Re... OMIM:251270
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner... ORPHA:457205
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor OMIM:613341
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:613756
Retinitis Pigmentosa 46
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Microcytic anemia ORPHA:90308
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Retinitis Pigmentosa
Hyperinsulinemia, Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy,... ORPHA:791
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Papilledema, Hearing impairment, Optic atrophy OMIM:122860
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor OMIM:616732
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Wolfram Syndrome, Mitochondrial Form
Abnormal autonomic nervous system physiology, Sensorineural hearing impairment, Diabetes mellitus... OMIM:598500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocytopenia, Purpura, Bruisi... ORPHA:906
Sclerosteosis
Sensorineural hearing impairment, Optic atrophy, Facial palsy ORPHA:3152
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hyperglycemia, Degen... OMIM:604484
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Hearing impairment, Optic atrophy ORPHA:99014
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Iris hypopigmentation, Pancytopenia, Hypopigmentation of ha... ORPHA:79477
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Glycosuria, Bone spicule pig... OMIM:268315
Hsd10 Mitochondrial Disease
Retinal degeneration, Hypoglycemia, Sensorineural hearing impairment, Optic atrophy OMIM:300438
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Leber Congenital Amaurosis 16
Optic disc pallor OMIM:614186
Leber Congenital Amaurosis
Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentation ORPHA:65
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Retrobulbar optic neuritis, Optic disc pallor, Sensorineural hearing impairment OMIM:619737
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Sensorineural hearing impairment, Chorioretinal coloboma, Optic atrophy ORPHA:1473
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy OMIM:618228
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mixed Connective Tissue Disease
Leukopenia, Alopecia, Hemolytic anemia, Purpura, Gastrointestinal hemorrhage, Prolonged bleeding ... ORPHA:809
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Canavan Disease
EEG abnormality, Hearing impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Optic atrophy, EEG abnormality, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Macs Syndrome
Alopecia, Sparse eyebrow, Bruising susceptibility, Prolonged bleeding time, Sparse hair OMIM:613075
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy ORPHA:49827
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Tinnitus ORPHA:137867
Wildervanck Syndrome
Pseudopapilledema, Congenital sensorineural hearing impairment, Facial palsy ORPHA:3456
Deafness, Dystonia, And Cerebral Hypomyelination
Sensorineural hearing impairment, Optic atrophy OMIM:300475
Diencephalic Syndrome
Macrotia, Optic atrophy ORPHA:1672
Neuronal Intranuclear Inclusion Disease
Optic atrophy, EEG abnormality ORPHA:2289
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Mody
Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy... ORPHA:552
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Hypsarrhythmia, Multifocal epileptiform discharges, Attenuation of retinal blood... OMIM:617166
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, D... OMIM:249270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, EEG abnormality ORPHA:3173
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Proximal Myopathy With Extrapyramidal Signs
Insulin-resistant diabetes mellitus, Peripheral axonal neuropathy, Hearing impairment, Optic atrophy ORPHA:401768
Krabbe Disease
Optic atrophy, EEG abnormality, Hearing impairment, Decreased nerve conduction velocity, Peripher... OMIM:245200
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Wiskott-Aldrich Syndrome
Petechiae, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion... OMIM:301000
Retinitis Pigmentosa 66
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615233
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Developmental And Epileptic Encephalopathy 48
Rod-cone dystrophy, Hypsarrhythmia, Optic disc pallor OMIM:617276
Progressive Myoclonic Epilepsy Type 3
EEG with focal epileptiform discharges, Optic atrophy, Focal EEG discharges with secondary genera... ORPHA:263516
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... ORPHA:335
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... OMIM:604367
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia ORPHA:1528
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, T... OMIM:601152
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, EEG abnormality, Optic atrophy, Abnormality of retinal pigmenta... ORPHA:44
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio OMIM:618880
Coenzyme Q10 Deficiency, Primary, 2
Hearing impairment, Optic atrophy 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
Wolfram Syndrome 2
Optic neuropathy, Sensorineural hearing impairment, Diabetes mellitus, Optic atrophy OMIM:604928
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic ... OMIM:612674
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
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... OMIM:609033
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy OMIM:609541
Chediak-Higashi Syndrome
Leukopenia, Anemia, Hypopigmentation of the skin, Giant melanosomes in melanocytes, Ocular albini... OMIM:214500
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Aniridia 2
Optic atrophy OMIM:617141
Canavan Disease
Hypsarrhythmia, Multifocal epileptiform discharges, Hearing impairment, Optic atrophy OMIM:271900
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intracranial hemorr... ORPHA:99147
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Hyperostosis Cranialis Interna
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Tinnitus OMIM:144755
Zika Virus Disease
Transient hearing impairment, Retinal pigment epithelial mottling, Optic disc hypoplasia, Abnorma... ORPHA:448237
Lethal Ataxia With Deafness And Optic Atrophy
Abnormality of somatosensory evoked potentials, Optic atrophy, Decreased motor nerve conduction v... ORPHA:1187
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time, Thromb... ORPHA:49566
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Cerebral Visual Impairment
Optic atrophy, Neonatal hypoglycemia, Optic nerve hypoplasia, Optic disc pallor, Retinopathy of p... ORPHA:447788
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Juvenile Paget Disease
Hearing impairment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Optic atrophy, Vestibular areflexia ORPHA:504476
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... ORPHA:206436
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Prolonged prothrombin time OMIM:616559
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair, Elevated cir... OMIM:160980
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... ORPHA:2330
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... ORPHA:485421
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality ORPHA:206448
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Abnormal bleeding, Epistaxis, Prolonged prothrombin time, Leuko... ORPHA:91547
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Sensorineural hearing impairment, O... ORPHA:101076
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Donohue Syndrome
Hyperinsulinemia, Macrotia, Postprandial hyperglycemia, Hyperglycemia, Low-set ears, Fasting hypo... OMIM:246200
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Aica-Ribosuria Due To Atic Deficiency
Low-set ears, Hypoglycemia, Optic atrophy OMIM:608688
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Diabetes mellitus, Decreased amplitude of sensory ac... OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Optic disc pallor, Hearing impairment, Optic atrophy OMIM:618249
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:616562
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Cockayne Syndrome Type 1
Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Macrotia, Optic atrophy, Abse... ORPHA:90321
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Diabetes mellitus, Hypoglycemia, Abnormal pinna morphology, Hyperglycemia... OMIM:609069
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes mellitus, Glycosu... ORPHA:2298
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Absent earlobe, Aplasia/Hypoplasia of the earlobes, Optic atrophy, EEG abnormality OMIM:609037
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Abnormal bleeding, Prolonged prothrombin time, Gastrointestina... ORPHA:64743
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Peripheral demyelination, Abnormal autonomic nervous system phy... OMIM:609136
Short Syndrome
Macrotia, Sensorineural hearing impairment, Insulin resistance, Insulin-resistant diabetes mellit... OMIM:269880
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... OMIM:616959
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Retinopathy, Axonal degeneration, Optic atrophy OMIM:616811
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Type II diabetes mellitus, Sensorineural hearing impairment, Optic atrophy OMIM:604121
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Chédiak-Higashi Syndrome
Iris hypopigmentation, Large clumps of pigment irregularly distributed along hair shaft, Spotty h... ORPHA:167
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal peripheral myelination, Retinal atrophy... OMIM:216400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy OMIM:615219
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... ORPHA:91495
Dend Syndrome
Thickened ears, Hypsarrhythmia, Hyperglycemia ORPHA:79134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microtia, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Ret... OMIM:614643
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Ir... ORPHA:79430
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation, Optic atrophy ORPHA:320375
Cole Disease
Hyperglycemia OMIM:615522
Leber Congenital Amaurosis 15
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... OMIM:613843
Norrie Disease
Retinal fold, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia, Retinal detachment OMIM:310600
Peroxisome Biogenesis Disorder 4B
Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Retinal dystrophy, Decreased... OMIM:614863
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Underdeveloped superior crus of antihelix, Congenital sensorineur... ORPHA:293967
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal peripheral myelination, Abnormal audito... OMIM:133540
Full Nf2-Related Schwannomatosis
Sensorineural hearing impairment, Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal ... ORPHA:637
Stankiewicz-Isidor Syndrome
Low-set ears, Abnormal optic disc morphology, Hearing impairment OMIM:617516
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Sensorineural hearing impairment, Pigmentary retinopathy, Op... OMIM:610651
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Idiopathic Anterior Uveitis
Macular edema, Increased cup-to-disc ratio ORPHA:280914
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Macrotia, Thickened helices ORPHA:2714
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level OMIM:609734
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyperglycemia, Fasting hy... ORPHA:2088
Isolated Permanent Neonatal Diabetes Mellitus
Retinopathy, Neonatal insulin-dependent diabetes mellitus, Glycosuria, Peripheral axonal neuropat... ORPHA:99885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Hemophagocytosis, Prolonged prothrombin time, Thrombocytopenia, Splenomegaly OMIM:267700
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Low-set ears, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Motor axonal neuropathy, O... OMIM:231550
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Prolonged prothrombin tim... OMIM:603553
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Rabson-Mendenhall Syndrome
Retinopathy, Macrotia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Pos... ORPHA:769
Hellp Syndrome
Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased mean corpuscu... ORPHA:244242
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Cafe-au-lait spot, Generalized hypopigmentation, Trichorr... ORPHA:84064
Celiac Disease, Susceptibility To, 1
Alopecia, Thrombocytosis, Macrocytic anemia, Prolonged prothrombin time, Iron deficiency anemia OMIM:212750
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Enlarged peripheral nerve, Insulin-resistant diabete... OMIM:151660
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:616271
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:99901
Symptomatic Form Of Hemochromatosis Type 1
Hyperglycemia, Diabetes mellitus ORPHA:465508
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Prolonged prothrombin time ORPHA:88618
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Norrie Disease
Macrotia, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Abnormal retinal vasc... ORPHA:649
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Bruising susceptibility, Ecchymosis ORPHA:287
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Retinal fold, Remnants of the hyaloid vascular system OMIM:221900
Monosomy 13Q34
Epistaxis, Horizontal eyebrow, Hematochezia, Prolonged prothrombin time ORPHA:96168
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Pigmentary retinopathy, Hyperinsulinemic hypoglycemia, Prolonged prothr... ORPHA:71212
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia, Prolonged prothrombin time OMIM:617941
Hyperoxaluria, Primary, Type I
Retinopathy, Optic atrophy, Choroidal neovascularization, Optic neuropathy, Retinal crystals OMIM:259900
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rod-cone dystrophy, EEG abnormality, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hearing... OMIM:124000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Impaired glucose tolerance OMIM:248370
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Pierson Syndrome
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund... OMIM:609049
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Alg12-Cdg
Small nail, B lymphocytopenia, Decreased serum insulin-like growth factor 1, Prolonged prothrombi... ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Thrombocytosis, Leukocytosis, Prolonged prothrombin time ORPHA:20
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Bruising susceptibility ORPHA:90354
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Retinal dystrophy, Abnormal optic disc morphology, Subretinal deposits, Low-set, posteriorly rota... ORPHA:397715
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Accessory spleen