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 |