Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Cerebral cortical hemiatrophy, Abnormality o... |
ORPHA:33445 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... |
ORPHA:64734 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Peters Anomaly |
|
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... |
OMIM:617315 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... |
OMIM:122000 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin, Albinism,... |
OMIM:606952 |
Anterior Segment Dysgenesis 5 |
|
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... |
OMIM:604229 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... |
OMIM:617319 |
Anterior Segment Dysgenesis 2 |
|
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... |
OMIM:610256 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplas... |
OMIM:606574 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... |
OMIM:136120 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... |
OMIM:619165 |
Bornholm Eye Disease |
|
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia... |
OMIM:300843 |
Posterior Polymorphous Corneal Dystrophy |
|
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... |
ORPHA:98973 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Visual impairment, Hypoplasia of the fovea, Myopia, Hypopigmentation of... |
OMIM:203200 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Truncal ataxia, Dysesthesia... |
OMIM:619259 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Abnormal retinal morphology, Myopia, Hypopigmentation of the skin, Albi... |
ORPHA:2786 |
Familial Infantile Bilateral Striatal Necrosis |
|
Choreoathetosis, Basal ganglia gliosis, Astrocytosis, Loss of ability to walk, Atrophy/Degenerati... |
ORPHA:225154 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cerebellar cyst, Myopia, Blindness, Cerebellar hypoplasia, Retinal detachme... |
OMIM:615181 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Cerebellar hypoplasia, Global brain atrophy, Optic nerve hypoplasia, Slow-growing h... |
OMIM:300953 |
Cardiofaciocutaneous Syndrome 4 |
|
Myopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Sparse hair, Abnormal aortic valve morphol... |
OMIM:615280 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity, Impaired proprioception, Impaired vibratory sensation, V... |
OMIM:229300 |
X-Linked Intellectual Disability, Najm Type |
|
Chorioretinal coloboma, Myopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Cerebral cortical ... |
ORPHA:163937 |
Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... |
OMIM:601631 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Amblyopia, Dysmetria, Optic nerve hypoplasia, Ataxia |
OMIM:614306 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... |
OMIM:221900 |
Hypercholesterolemia, Familial, 4 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:603813 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Spastic gait, Myopia, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Ga... |
ORPHA:496790 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Abnormal best corrected visual acuity test, Optic nerve hypoplasia, Optic... |
ORPHA:137902 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypo... |
ORPHA:1067 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... |
OMIM:126070 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Chiari type I malformation, Optic nerve hypoplasia |
OMIM:615879 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis |
OMIM:251750 |
Waardenburg-Shah Syndrome |
|
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... |
ORPHA:897 |
Hsd10 Disease, Infantile Type |
|
Cerebral atrophy, Visual loss, Retinal degeneration, Choreoathetosis, Blindness, Loss of ability ... |
ORPHA:391428 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Abnormal retinal morphology, Sparse lateral ... |
ORPHA:170 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Myopia, Blindness, Cerebellar hypoplasia, Cerebellar cyst, Retinal deta... |
ORPHA:370959 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... |
ORPHA:79435 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Central nervous system degeneration, Astrocytosis, Global brain... |
ORPHA:282166 |
Charcot-Marie-Tooth Disease Type 1F |
|
Somatic sensory dysfunction, Impaired proprioception, Impaired vibratory sensation, Cervical spin... |
ORPHA:101085 |
Hidrotic Ectodermal Dysplasia |
|
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... |
ORPHA:189 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:214450 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Oculocutaneous Albinism Type 1 |
|
White eyebrow, Hypoplasia of the fovea, Amblyopia, Optic nerve misrouting, Blue irides, White eye... |
ORPHA:352731 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Astrocytosis, Ataxia, Gliosis, Neuronal loss in central nervous system, Visual ... |
ORPHA:204 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Ectopia lentis, Iridodonesis |
OMIM:613195 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
Oculoauricular Syndrome |
|
Chorioretinal coloboma, Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior em... |
OMIM:612109 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Optic nerve hypoplasia, Cerebral cortical atrophy, Inability to walk |
OMIM:617864 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Mel... |
OMIM:607624 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Retinal degeneration, Ataxia, Rod-cone dystrophy, Cardiomyopathy, Ca... |
OMIM:266500 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Hypopyon, Abnormal corneal endothelium morphology, Posterior uveiti... |
ORPHA:209959 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Myopia, Hypermetropia, Amblyopia, Optic nerve hypoplasia, Optic disc hypoplasia, Cerebral visual ... |
ORPHA:401777 |
Squalene Synthase Deficiency |
|
Cerebral visual impairment, Optic nerve hypoplasia, Bicuspid aortic valve, Abnormality of hair pi... |
OMIM:618156 |
Idiopathic Anterior Uveitis |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Nuclear cataract |
ORPHA:280914 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis, Gait disturbance |
OMIM:600795 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... |
ORPHA:2885 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Senile plaques, Astrocytosis, Temporal cortical atrophy, ... |
ORPHA:100070 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Optic nerve hypoplasia, Retinopathy of prematurity, Optic di... |
ORPHA:447788 |
Optic Nerve Hypoplasia, Bilateral |
|
Morning glory anomaly, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:165550 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Visual impairment |
ORPHA:858 |
5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal cortical atrophy |
ORPHA:228384 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... |
ORPHA:79434 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerv... |
ORPHA:137634 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Myopia, Atrial septal defect, Optic nerve hypoplasia, Chiari malformation, ... |
OMIM:609053 |
Oculocutaneous Albinism Type 2 |
|
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... |
ORPHA:79432 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Low anterior hairline |
OMIM:618736 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Inability to walk, Difficulty walking, Astrocytosis |
OMIM:611087 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, Cardiomyopath... |
OMIM:105210 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis |
OMIM:600333 |
Distal Monosomy 6P |
|
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... |
ORPHA:96125 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Ectopia pupillae, Corneal dystrophy |
OMIM:612868 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Optic nerve hypoplasia |
OMIM:617914 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Vitreous floaters, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Amoebic Keratitis |
|
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... |
ORPHA:67043 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... |
OMIM:256710 |
Chromosome 19P13.13 Deletion Syndrome |
|
Chiari type I malformation, Optic nerve hypoplasia, Optic atrophy |
OMIM:613638 |
Intermediate Uveitis |
|
Band keratopathy, Cataract, Posterior synechiae of the anterior chamber, Anterior uveitis |
ORPHA:279914 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor |
OMIM:619170 |
White-Sutton Syndrome |
|
Cerebral atrophy, Patent foramen ovale, Mild myopia, Myopia, Atrial septal defect, Hypermetropia,... |
OMIM:616364 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small nail, Hypermetropia, Cerebellar hypoplasia, Global brain atrophy, Optic nerve hypoplasia, H... |
OMIM:301056 |
Infantile Sialic Acid Storage Disease |
|
Fair hair, Cerebral atrophy, Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Inability to walk, Hypertrophic cardiomyopathy, Ataxia, Abnormal heart ... |
ORPHA:70472 |
Oculocutaneous Albinism |
|
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... |
ORPHA:55 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance |
ORPHA:275864 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
OMIM:218670 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Visual loss, Hypertrophic cardiomyopathy, Truncal ataxia, Ventricular hypertrophy, ... |
OMIM:619051 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Neuraminidase Deficiency |
|
Cherry red spot of the macula, Dysmetria, Progressive visual loss, Splenomegaly, Hepatomegaly, Ca... |
OMIM:256550 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Septo-optic dysplasia, Optic atrophy, Visual impairment |
ORPHA:1528 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia |
OMIM:231970 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Myopia, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyeb... |
ORPHA:261250 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Progressive cerebellar ataxia, Pigmentary retinopathy, Ventricular s... |
ORPHA:255241 |
Oculocutaneous Albinism Type 3 |
|
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... |
ORPHA:79433 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Visual impairment, Hypoplasia of the fovea, Myopia, Albinism, Blue irid... |
OMIM:203100 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Neurodegeneration, Hypopigmentation of the skin, Splenomegaly, Ataxia, ... |
OMIM:214500 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Long eyelashes, Optic nerve hypoplasia, Highly arched eyebrow, Low anterior hairline, Synophrys |
OMIM:618828 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Retinal degeneration, Retinal hemorrhage, Hypermetropia, Astrocytosis,... |
ORPHA:90324 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Visual loss, Cerebellar atrophy, Astrocytosis, Gliosis, Hepatomegaly, Ataxia, Cerebral visual imp... |
OMIM:203700 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Amblyopia, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy |
OMIM:617713 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Hypopigmentati... |
ORPHA:79431 |
Piebaldism |
|
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... |
ORPHA:2884 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... |
ORPHA:895 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Astrocytosis |
OMIM:172500 |
Waardenburg Syndrome Type 1 |
|
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... |
ORPHA:894 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-base... |
ORPHA:411515 |
Phace Association |
|
Cerebellar hypoplasia, Optic nerve hypoplasia, Increased retinal vascularity, Dandy-Walker malfor... |
OMIM:606519 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Blindness, Albinism, Hypopigmentation of the skin, Freckles in sun-expo... |
OMIM:203300 |
2P15P16.1 Microdeletion Syndrome |
|
Long eyelashes, Cerebellar hypoplasia, Supernumerary nipple, Optic nerve hypoplasia, Sparse eyebr... |
ORPHA:261349 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Abnormal hair morphology, Optic nerve hypoplasia, Hyperpigmented nevi |
OMIM:607597 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Aganglionic megacolon, Alopecia |
ORPHA:85284 |
Abetalipoproteinemia |
|
Dysmetria, Color vision defect, Impaired proprioception, Impaired vibratory sensation, Nyctalopia... |
ORPHA:14 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Mulibrey Nanism |
|
Pericardial constriction, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly, Myocardial fibrosis |
OMIM:253250 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal best corrected visual acuity test, Visual loss, Cerebellar hypoplasia, Inability to walk... |
ORPHA:300570 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Reduced visual acuity, Visual i... |
OMIM:614072 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Cardiomegaly, Cerebral cortical atrophy, Cerebellar hypoplasia |
ORPHA:3137 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Coarse hair, Patent foramen ovale, Sparse lateral eyebrow, Atrial septal defect, Optic nerve hypo... |
OMIM:617506 |
Mucopolysaccharidosis Type 3 |
|
Coarse hair, Blindness, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pigme... |
ORPHA:581 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Segmental peripheral demyelination... |
ORPHA:255210 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia |
OMIM:614833 |
Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Synophrys, Cardiomegaly, ... |
OMIM:252920 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Hypoplasia of the pons, Inabilit... |
OMIM:618143 |
Pancreatic And Cerebellar Agenesis |
|
Cerebellar hypoplasia, Cerebellar agenesis, Optic nerve hypoplasia, Secundum atrial septal defect |
OMIM:609069 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Optic nerve hypoplasia, Abnormal cerebellum morphology, Frontal upsweep of ... |
ORPHA:93932 |
Brittle Cornea Syndrome |
|
Visual loss, High myopia, Retinal detachment, Pulmonic stenosis, Gait disturbance, Mitral valve p... |
ORPHA:90354 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Perimembranous ventricular septal defect, Truncus arteriosus, Tetralogy of Fallot, Myopia, Atriov... |
ORPHA:508498 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Ataxia, Gait di... |
ORPHA:100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Myopia, Blindness, Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal d... |
OMIM:236670 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Atrial septal defect, Abnormal cerebellum morphology, Ventricular septal de... |
OMIM:618652 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Long eyelashes, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Spar... |
ORPHA:495875 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Synophrys, Hepatomegaly, Long eyelashes |
OMIM:619064 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Long eyelashes, Congenital, generalized hypertrichosis,... |
OMIM:239850 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia, Fine hair |
ORPHA:363686 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
Sandhoff Disease |
|
Cherry red spot of the macula, Orthostatic hypotension, Hepatosplenomegaly, Blindness, Hepatomega... |
OMIM:268800 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal corneal endothelium morphology, Chorioretinal atrophy, Posterior synechiae of the anteri... |
ORPHA:364055 |
Chédiak-Higashi Syndrome |
|
Hypopigmentation of hair, Somatic sensory dysfunction, Hepatosplenomegaly, Atrophy of the spinal ... |
ORPHA:167 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Visual impai... |
ORPHA:3157 |
19P13.13 Microdeletion Syndrome |
|
Long eyelashes, Optic nerve hypoplasia, Corpus callosum atrophy, Chiari type I malformation, Cafe... |
ORPHA:357001 |
Carney Complex, Type 1 |
|
Schwannoma, Cardiac myxoma, Pheochromocytoma, Profuse pigmented skin lesions, Multiple lentigines... |
OMIM:160980 |
Mogs-Cdg |
|
Fair hair, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Long eyelashes, Atrial... |
ORPHA:79330 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Optic nerve hypoplasia |
OMIM:615113 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Abnormality of vision, Aganglionic megacolon, Ataxia, Fusion of the cerebe... |
ORPHA:59315 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Optic disc hypoplasia |
OMIM:182230 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Optic nerve hypoplasia, Optic disc pallor, Hypop... |
OMIM:300749 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... |
ORPHA:860 |
Phace Syndrome |
|
Tetralogy of Fallot, Heterochromia iridis, Amblyopia, Cerebellar hypoplasia, Optic nerve hypoplas... |
ORPHA:42775 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Dilatation of the ventricular cavity, Chorioretinal atrophy, C... |
ORPHA:2177 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Hyperpigmentation of the skin, Alopecia, Cardiomegaly |
OMIM:235200 |
Timothy Syndrome |
|
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale |
OMIM:601005 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormality of the optic nerve, Atrial septal defect, Impaired pain sensation, Supernumerary nipp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormality of the optic nerve, Atrial septal defect, Impaired pain sensation, Supernumerary nipp... |
ORPHA:352665 |
Ermine Phenotype |
|
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Photophobia, Iris hypopigm... |
ORPHA:999 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anterior chamber flare, Chorioretinal scar, Posterior uveitis, Cataract, Iris nevus, Intermediate... |
ORPHA:91500 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Brittle Cornea Syndrome 1 |
|
Visual loss, Mitral valve prolapse, Red hair, Myopia |
OMIM:229200 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Optic nerve hypoplasia, Ataxia, Hyperpigmentation of the skin, Hypertrichosis, Positive Romberg s... |
ORPHA:221139 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormality of the optic nerve, Long eyelashes, Myopia, Hypopigmentatio... |
ORPHA:79430 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Cerebral atrophy, Optic nerve hypoplasia |
OMIM:612513 |
Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... |
OMIM:300257 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Atrial septal defect, Congenital, generalized hype... |
ORPHA:363705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascul... |
OMIM:614643 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Myopia, Abnormality of vision, Athetosis, Ataxia, Dandy-Walker malforma... |
ORPHA:2719 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Inability to walk, Steppage ga... |
ORPHA:324410 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia |
ORPHA:1068 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired proprioce... |
OMIM:302900 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Tip-toe gait, Chorea, Right ventricular hypertrophy, Cardiomegaly, Brachial pl... |
ORPHA:268 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Optic atrophy |
OMIM:619052 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dysdiadochokinesis, Astrocytosis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Gait d... |
ORPHA:309854 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Cerebellar cortical atrophy, Generalized hypopigmentation, Alopecia, Reti... |
OMIM:619321 |
Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... |
ORPHA:3440 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Naxos Disease |
|
Dilated cardiomyopathy, Cardiomegaly, Woolly hair, Abnormal morphology of right ventricular trabe... |
OMIM:601214 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, Optic disc hypoplasia |
ORPHA:79345 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Vici Syndrome |
|
Dilated cardiomyopathy, Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Hypop... |
OMIM:242840 |
Attrv122I Amyloidosis |
|
Abnormality of enteric nervous system morphology, Cardiac amyloidosis, Hypertrophic cardiomyopath... |
ORPHA:85451 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... |
ORPHA:411511 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Ataxia |
ORPHA:42 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... |
ORPHA:3092 |
Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Splenomegaly, Hepatomegaly, Partial albinism... |
ORPHA:79477 |
Bohring-Opitz Syndrome |
|
High myopia, Hypertrichosis, Inability to walk, Retinal atrophy, Dandy-Walker malformation, Synop... |
ORPHA:97297 |
Cantú Syndrome |
|
Generalized hirsutism, Abnormal heart valve morphology, Long eyelashes, Thick eyebrow, Hypertroph... |
ORPHA:1517 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Patent foramen ovale, Optic nerve hypoplasia, Double outlet right ventricl... |
OMIM:301043 |
Friedreich Ataxia And Congenital Glaucoma |
|
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired vibratory... |
OMIM:229310 |
Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Impaired vibratory... |
OMIM:601992 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, High hypermetropia, Myopia, Atrial septal defect, Optic nerve hy... |
ORPHA:536471 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... |
OMIM:115197 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Ataxia |
ORPHA:31 |
Lethal Acantholytic Erosive Disorder |
|
Absent fingernail, Absent eyelashes, Absent toenail, Absent hair, Absent eyebrow, Cardiomyopathy,... |
ORPHA:158687 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Gait imbalance, Br... |
ORPHA:98795 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve ca... |
OMIM:231005 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Cerebral visual impairment, Optic nerve hypoplasia, Olivopontocerebellar hyp... |
ORPHA:457284 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebral atrophy, Cerebellar atrophy, Cerebellar hypoplasia, Optic nerve hypoplasia, Optic disc p... |
ORPHA:468631 |
Congenital Tricuspid Valve Dysplasia |
|
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... |
ORPHA:555874 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Pontocerebellar atrophy, Inability to walk, Cardiomyopathy, Facial palsy |
ORPHA:258 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity, Pigmentary retinopathy, Cerebral cortical atrophy, R... |
OMIM:277400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cerebellar hypoplasia, Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616897 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:600649 |
Coronary Arterial Fistula |
|
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... |
ORPHA:2041 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Hypoplastic toenails, Cerebellar hypoplasia, Dextrocardi... |
OMIM:306955 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Myopia, Atrial septal defect, Hypermetropia, Progressive visual loss, Broad lateral eyebrow, Opti... |
ORPHA:500150 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... |
ORPHA:98794 |
Stromme Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal vascular tortuosity, Cerebellar vermis hyp... |
OMIM:243605 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy |
OMIM:277410 |
Collagenoma, Familial Cutaneous |
|
Right ventricular cardiomyopathy, Cardiomyopathy, Iris atrophy |
OMIM:115250 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Tetralogy of Fallot, Woolly hair, Atrial septal defect, S... |
ORPHA:84064 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect |
OMIM:206900 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Craniosynostosis 4 |
|
Chiari type I malformation, Optic nerve hypoplasia |
OMIM:600775 |
Sickle Cell Anemia |
|
Retinopathy, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Generali... |
ORPHA:465508 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... |
ORPHA:439 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology, Hypermetropia |
OMIM:114620 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Subcortical cerebral atrophy, Synophrys, Cardiomegaly, Hirsutism, Low posterior hairline |
ORPHA:2463 |
Fucosidosis |
|
Cerebral atrophy, Thick eyebrow, Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Hypermetropia, Atrial septal defect, Thick eyebrow, Amblyopia, Bicuspid aor... |
OMIM:245600 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Hypertri... |
OMIM:602782 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... |
ORPHA:163746 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Patent foramen ovale, Myopia, Atrial septal defect, Left ventricu... |
OMIM:300967 |
Proboscis Lateralis |
|
Chorioretinal coloboma, Optic nerve hypoplasia, Optic disc coloboma, Ventricular septal defect, A... |
ORPHA:141099 |
Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Chorioretinal hypopigmentation, Macular agenesis... |
OMIM:106210 |
Aorta Coarctation |
|
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... |
ORPHA:1457 |
Pseudo-Torch Syndrome 3 |
|
Cerebellar hypoplasia, Cardiomegaly |
OMIM:618886 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cerebral visual impairment, Cardiomegaly |
ORPHA:255249 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly |
ORPHA:99931 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:201475 |
Fucosidosis |
|
Cardiomegaly, Abnormality of the nail, Hepatomegaly |
ORPHA:349 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... |
ORPHA:1329 |
Cystinosis, Nephropathic |
|
Retinopathy, Hypopigmentation of hair, Cerebral atrophy, Visual impairment, Blindness, Hypopigmen... |
OMIM:219800 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Akinesia, Cardiomegaly |
OMIM:608013 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Enlarged kidney, Hypoplastic toenails, Hepatomegaly, Cardiomegaly |
OMIM:608836 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy |
ORPHA:137675 |
8Q24.3 Microdeletion Syndrome |
|
Complete atrioventricular canal defect, Truncus arteriosus, Long eyelashes, Dysplastic aortic val... |
ORPHA:508488 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Brain atrophy, Visual im... |
OMIM:618278 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... |
ORPHA:57777 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:614921 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Cerebellar vermis hyp... |
ORPHA:228308 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:252500 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:261740 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Abnormal cerebellum morphology |
ORPHA:226307 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly |
OMIM:251110 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly |
OMIM:251100 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
Williams Syndrome |
|
High hypermetropia, Hypoplastic toenails, Blue irides, Ventricular septal defect, Cardiomegaly, A... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Myopia, Subvalvular aortic stenosis, Onycholysis, Mitral valve calcificati... |
OMIM:182250 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology |
ORPHA:91387 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Inability to walk, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hype... |
ORPHA:365 |
Oculodentodigital Dysplasia |
|
Microcornea, Cataract, Ventricular septal defect, Abnormality iris morphology |
ORPHA:2710 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Congenital Tracheomalacia |
|
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... |
ORPHA:95430 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
Truncus Arteriosus |
|
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... |
ORPHA:3384 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Abnormality of secondary sexual hair |
ORPHA:95494 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Degeneration of the striatum, Hypertrophic cardiomyopathy, Cardiomegaly, Diff... |
ORPHA:51 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... |
ORPHA:980 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
Yunis-Varon Syndrome |
|
Tetralogy of Fallot, Aplasia/Hypoplasia of the nails, Atrial septal defect, Cerebellar hypoplasia... |
ORPHA:3472 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Sparse axil... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Cardiomegaly, Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Viscerome... |
ORPHA:116 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia |
OMIM:610829 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... |
ORPHA:99125 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Dandy-Walker malformation, Cardiomyopathy,... |
OMIM:130650 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal retinal artery morphology, Myocardial calcification, Retinal hemorrhage, Choroidal neova... |
ORPHA:51608 |
Tropical Endomyocardial Fibrosis |
|
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |