Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic atro... |
ORPHA:33445 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus,... |
OMIM:606952 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Macular hypoplasia, Hypopigmentation of hair, Hypopigmentation of the fundus, Blue irid... |
OMIM:606574 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Bornholm Eye Disease |
|
Deuteranopia, Amblyopia, Protanopia, Abnormality of retinal pigmentation, Optic nerve hypoplasia,... |
OMIM:300843 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Gait ataxia, Amblyopia, Ataxia, Optic nerve hypoplasia, Dysmetria, Cerebellar atrophy |
OMIM:614306 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Photophobia, Hypopigmentation of hai... |
OMIM:619165 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Gait ataxia, Sparse eyebrow, Global brain atrophy, Tiger tail banding, Brittle hair, Cerebellar h... |
OMIM:300953 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Diplopia, Optic atrophy, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Dyse... |
OMIM:619259 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Abnormal retinal morphology, Albinism, Hypopigmentation of hair, Vi... |
ORPHA:2786 |
Optic Atrophy 11 |
|
Gait apraxia, Amblyopia, Brain atrophy, Optic atrophy, Cerebellar hypoplasia, Ataxia, Optic nerve... |
OMIM:617302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Blindness, Cerebellar hypoplasia, Myopia, Cerebellar cyst, Optic nerve hypo... |
OMIM:615181 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Basal ganglia gliosis, Optic atrophy, Choreoathetosis, Gait disturbance, Atrophy/Deg... |
ORPHA:225154 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Cafe-au-lait spot, Cerebellar hypoplasia, Abnormal aortic valve morphology, Multiple ... |
OMIM:615280 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic atrophy, Cerebellar hypoplasia, Gait disturbance, Optic nerve hy... |
ORPHA:163937 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Optic atrophy, Spastic gait, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Pe... |
ORPHA:496790 |
Friedreich Ataxia |
|
Gait ataxia, Optic atrophy, Visual field defect, Decreased pyruvate carboxylase activity, Decreas... |
OMIM:229300 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... |
OMIM:602482 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Abnormal best corrected visual acuity test, Optic disc hypoplasia, Optic nerve... |
ORPHA:137902 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormal heart morphology, Persistent ... |
ORPHA:1067 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation o... |
OMIM:126070 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... |
ORPHA:897 |
Woolly Hair |
|
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... |
ORPHA:170 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Blindness, Abnormal cerebellum mo... |
ORPHA:370959 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Global brain atrophy, Vestibular nystagmus, Abnormal autonomic nervous syste... |
ORPHA:282166 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... |
ORPHA:189 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Visual impairment, As... |
ORPHA:204 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Blindness, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degenerati... |
ORPHA:391428 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Oculocutaneous Albinism Type 1 |
|
Amblyopia, Generalized hypopigmentation of hair, Depigmented fundus, Reduced visual acuity, White... |
ORPHA:352731 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Inability to walk, Absent brainstem audito... |
ORPHA:101085 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... |
ORPHA:42665 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Hepatosplenomegaly, Sil... |
OMIM:607624 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Rod-cone dystrophy, Retinal degeneration, Ataxia, Cardiomegaly, Nyct... |
OMIM:266500 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract |
ORPHA:280914 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Cerebral visual impairment, Amblyopia, Optic atrophy, Reduced visual acuity, Visual field defect,... |
ORPHA:401777 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Congenital Toxoplasmosis |
|
Visual impairment, Cardiomegaly, Abnormality of retinal pigmentation, Hepatomegaly |
ORPHA:858 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Ataxia, Hypopigm... |
ORPHA:2885 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Neuronal loss in central nervous system, Astrocytosis, Cerebral cortical atrophy, Gait disturbance |
OMIM:600795 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Bicuspid aortic valve, Cerebral visual impairment, Optic nerve ... |
OMIM:618156 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Cerebral Visual Impairment |
|
Optic atrophy, Visual field defect, Optic nerve hypoplasia, Central nervous system degeneration, ... |
ORPHA:447788 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Thick eyebrow, Agenesis of cerebellar vermis, Optic nerve hypoplasia |
ORPHA:228384 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis, Aplasia/Hypoplasia of the optic nerve, Op... |
ORPHA:137634 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Optic Nerve Hypoplasia, Bilateral |
|
Morning glory anomaly, Optic nerve aplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascu... |
OMIM:165550 |
Tatton-Brown-Rahman Syndrome |
|
Horizontal eyebrow, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia, Chia... |
OMIM:615879 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, Reduced visual acuity, White eyelash... |
ORPHA:79432 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Inability to walk, Difficulty walking, Atrial septal defect |
OMIM:611087 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Cafe-au-lait spot, Ventricular septal defect, Chiari malformation, Atrial s... |
OMIM:609053 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Vitreous floaters, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... |
OMIM:256710 |
Idiopathic Panuveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... |
ORPHA:280921 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Horizontal eyebrow, Synophrys, Long eyelashes, Optic nerve hypoplasia, Thick eyebrow, Hypertricho... |
OMIM:618381 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Dandy-Walker malformation, Low anterior hairline, Optic nerve hypoplasia |
OMIM:618736 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy, Anterior uveitis |
ORPHA:279914 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Inability to walk, Ataxia, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Abnorma... |
ORPHA:70472 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Atrial... |
ORPHA:96125 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair, Hepatomegaly, Cerebral atrophy, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Chromosome 19P13.13 Deletion Syndrome |
|
Chiari type I malformation, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Global brain atrophy, Small nail, Ventricular septal defect, Cereb... |
OMIM:301056 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cerebral visual impairment, Truncal ataxia, Limb ataxia, Visual loss, Hy... |
OMIM:619051 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Reduced visu... |
ORPHA:55 |
Neuraminidase Deficiency |
|
Progressive visual loss, Dysmetria, Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of ... |
OMIM:256550 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
White-Sutton Syndrome |
|
Patent foramen ovale, Rod-cone dystrophy, Mild myopia, Atrial septal defect, Optic nerve hypoplas... |
OMIM:616364 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
OMIM:218670 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Optic atrophy, Hypertrichosis, Hypertrophic cardiomyopathy, Progressiv... |
ORPHA:255241 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Craniotelencephalic Dysplasia |
|
Visual impairment, Cerebellar hypoplasia, Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Sparse hair |
OMIM:613576 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Gait disturbance, Frontotemporal cerebral atrophy |
ORPHA:275864 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Amblyopia, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Photophobia, Hypopigmentation of hair, Hypoplasia of the fovea, White ... |
OMIM:203100 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Optic nerve hypoplasia, Abnormal hair pattern,... |
ORPHA:261250 |
Cockayne Syndrome Type 3 |
|
Dry hair, Retinal hemorrhage, Abnormality of peripheral nerve conduction, Dense calcifications in... |
ORPHA:90324 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... |
OMIM:214500 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Aganglionic megacolon, Hypo... |
ORPHA:894 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Synophrys, Long eyelashes, Optic nerve hypoplasia, Highly arched eyebrow, Low anterior hairline |
OMIM:618828 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Aganglionic megacolon, Ataxia, Hypopigment... |
ORPHA:2884 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral visual impairment, Optic nerve hypoplasia |
ORPHA:572013 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, White forelock, Hyp... |
ORPHA:895 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Pterygium, Ventricular septal hypertrophy, Hypertrophic c... |
OMIM:618052 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Broad-base... |
ORPHA:411515 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Blindness, Melanocytic nevus, Ocular albinism, Albinism, Freckles i... |
OMIM:203300 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Optic atrophy, Cerebellar hypoplasia, Long eyelashes, Supernumerary nipple, Fine ... |
ORPHA:261349 |
Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pigmentary retinopathy |
OMIM:253250 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Visual impairment, Reduced visu... |
OMIM:614072 |
Abetalipoproteinemia |
|
Gait ataxia, Progressive visual loss, Rod-cone dystrophy, Cardiomegaly, Blindness, Scotoma, Abnor... |
ORPHA:14 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Abnormal hair morphology, Optic nerve hypoplasia |
OMIM:607597 |
Phace Association |
|
Horner syndrome, Ventricular septal defect, Optic atrophy, Cerebellar hypoplasia, Optic nerve hyp... |
OMIM:606519 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Patent foramen ovale, Curly hair, Sparse lateral eyebrow, Ventricular sep... |
OMIM:617506 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Cerebral cortical atrophy, Inability to walk, Optic nerve hypoplasia |
OMIM:617864 |
Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Inability to walk, Cerebellar hypoplasia, Abnormal best corrected visual acuity t... |
ORPHA:300570 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cerebral cortical atrophy, Blindness, Cerebellar hypoplasia |
ORPHA:3137 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic nerve hypopl... |
ORPHA:171680 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Hepatomegaly, Cerebell... |
OMIM:618541 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:614702 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Mitral valve prolapse, Gait disturbance, Visual loss, Retinal d... |
ORPHA:90354 |
Supranuclear Palsy, Progressive, 1 |
|
Granulovacuolar degeneration, Diplopia, Falls, Akinesia, Gait imbalance, Blurred vision, Neuronal... |
OMIM:601104 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Synophrys, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Nyctalopia, Thick h... |
ORPHA:581 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebral visual impairment, Cerebral cortical atrophy, Cerebellar vermis atrophy, Inability to wa... |
OMIM:618143 |
Fg Syndrome Type 1 |
|
Abnormal cerebellum morphology, Frontal upsweep of hair, Mitral valve prolapse, Atrial septal def... |
ORPHA:93932 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Asymmetric septal hypertrophy, Hirsutism, Hepatomegaly, Coarse hair, Cardiomegaly, Spl... |
OMIM:252920 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia |
OMIM:615113 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Gait disturbance, Ataxia, Hypopigmentation of hair, Multiple cafe-au-l... |
ORPHA:100 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Global brain atrophy, Cerebral visual impairment, Partial atrioventricular canal defect, Ventricu... |
OMIM:620066 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia |
OMIM:618885 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Abnormal cerebellum morphology, Atrial septal de... |
OMIM:618652 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia |
OMIM:614833 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Synophrys, Cardiomegaly, Long eyelashes, Hepatomegaly |
OMIM:619064 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Sandhoff Disease |
|
Blindness, Ataxia, Hepatosplenomegaly, Impaired temperature sensation, Hepatomegaly, Orthostatic ... |
OMIM:268800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Blindness, Optic atrophy, Cerebellar hypoplasia, Retinal atrophy, Myopia, C... |
OMIM:236670 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Amblyopia, Truncus arteriosus, Ventricular septal defect, Retinal ... |
ORPHA:508498 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:613154 |
Hec Syndrome |
|
Abnormal pupil morphology, Cardiomyopathy, Developmental cataract, Endocardial fibroelastosis |
ORPHA:2119 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Optic nerve hypoplasia |
ORPHA:363686 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Chorioretinal atroph... |
ORPHA:364055 |
Mogs-Cdg |
|
Alopecia, Optic atrophy, Fair hair, Absent brainstem auditory responses, Long eyelashes, Left ven... |
ORPHA:79330 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Long eyela... |
OMIM:239850 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Visual impairment, Septo-optic dysplasia, Optic nerve hypop... |
ORPHA:3157 |
Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Hypopigmentation of the skin, Brain atrophy, Inability to walk, Redu... |
ORPHA:167 |
19P13.13 Microdeletion Syndrome |
|
Cafe-au-lait spot, Optic atrophy, Long eyelashes, Optic nerve hypoplasia, Chiari type I malformat... |
ORPHA:357001 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Cerebellar hypoplasia, Synophrys, Broad eyebrow, Long eyelashes, Dandy-Walker mal... |
ORPHA:495875 |
Hydranencephaly |
|
Dilatation of the ventricular cavity, Blindness, Cerebral cortical atrophy, Optic nerve hypoplasi... |
ORPHA:2177 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Pheochromocytoma, Schwannoma, Freckling, Car... |
OMIM:160980 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Blindness, Optic nerve hypoplasia |
OMIM:617914 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Septo-optic dysplasia,... |
ORPHA:59315 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Cerebral atrophy, Visual impairment, Optic nerve hypoplasia |
OMIM:612513 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Abnormality of Krebs cycle metabolism, Rod-cone dystrophy, Optic atrophy, Di... |
ORPHA:255210 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, ... |
OMIM:300749 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Tetralogy of Fallot, Optic nerve hypoplasia |
OMIM:222765 |
Marshall-Smith Syndrome |
|
Melanocytic nevus, Ventricular septal defect, Brittle hair, Dysplastic aortic valve, Synophrys, C... |
OMIM:602535 |
Phace Syndrome |
|
Retinal vascular malformation, Amblyopia, Abnormal cardiac septum morphology, Cerebellar hypoplas... |
ORPHA:42775 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
Brittle Cornea Syndrome 1 |
|
Myopia, Red hair, Mitral valve prolapse, Visual loss |
OMIM:229200 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Amblyopia, Melanocytic nevus, Ocular albinism, Iris hypopigmentatio... |
ORPHA:79430 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Inability to walk, Bicuspid aortic valve, Myopia, Supernumerary nipple... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Inability to walk, Bicuspid aortic valve, Myopia, Supernumerary nipple... |
ORPHA:352665 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Choroideremia, Ocular albinism, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Myopia, ... |
ORPHA:2719 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... |
ORPHA:91500 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Abnormal heart valve morp... |
ORPHA:363705 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Positive Romberg sign, Optic nerve hypoplasia, Ataxia, Low posterior hairline, Hyperpigmentation ... |
ORPHA:221139 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Hypertrophic cardiomyopathy, Difficulty wal... |
ORPHA:309854 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Chorea, Tip-toe gait, Inability to walk, Brachial plexus neuropathy, Cardiomegaly, Right ventricu... |
ORPHA:268 |
Naxos Disease |
|
Sparse body hair, Sparse eyebrow, Curly hair, Right ventricular cardiomyopathy, Abnormal morpholo... |
OMIM:601214 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of enteric ... |
ORPHA:85451 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Optic atrophy |
OMIM:619052 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cerebellar hypoplasia, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascula... |
OMIM:614643 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebral visual impairment, Ataxia, Visual loss, Neuronal loss in central nervous system, Cerebel... |
OMIM:203700 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Ataxia, Hypopigmentation of ... |
ORPHA:411511 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia |
ORPHA:1068 |
Pancreatic And Cerebellar Agenesis |
|
Cerebellar hypoplasia, Secundum atrial septal defect, Optic nerve hypoplasia, Cerebellar agenesis... |
OMIM:609069 |
D-Glyceric Aciduria |
|
Cerebral cortical atrophy, Optic nerve hypoplasia |
OMIM:220120 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Cerebellar cortical atrophy, Optic atrophy, Generalized hypopigmentation, Retinal dystr... |
OMIM:619321 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Ataxia, Hepatomegaly |
ORPHA:42 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hepatomegaly, Partial... |
ORPHA:79477 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia |
ORPHA:79345 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Hypopigmentation of hair, Br... |
ORPHA:98795 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Retinal atrophy, Synophrys, Inability to walk,... |
ORPHA:97297 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Astrocytosis, Temporal c... |
ORPHA:100070 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
High hypermetropia, Sparse scalp hair, Abnormal heart valve morphology, Atrial septal defect, Opt... |
ORPHA:536471 |
Cantú Syndrome |
|
Long eyelashes, Hypertrophic cardiomyopathy, Low posterior hairline, Curly eyelashes, Cardiomegal... |
ORPHA:1517 |
Lethal Acantholytic Erosive Disorder |
|
Absent hair, Cardiomegaly, Absent eyelashes, Absent toenail, Absent fingernail, Absent eyebrow, C... |
ORPHA:158687 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Facial palsy, Pontocerebellar atrophy, Astrocytosis, Cardiomyopathy |
ORPHA:258 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Onychogryposis, Optic nerve hypoplasia, Remnants of the hyaloid vascular sy... |
OMIM:603671 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Cerebellar hypoplasia |
OMIM:616897 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... |
ORPHA:85450 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... |
OMIM:301043 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Opacification of the corneal stroma, Hepatomegaly, Cardiomegaly, A... |
OMIM:231005 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... |
ORPHA:411634 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Vici Syndrome |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Macular atrophy, Lef... |
OMIM:242840 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Cerebral visual impairment, Olivopontocerebellar hypoplasia, Abnormal hair whorl, Optic nerve hyp... |
ORPHA:457284 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar hypoplasia, Attenuation of retinal blood vessels, Optic nerve hypoplasia, Hypoplasia o... |
ORPHA:468631 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Optic nerve hyp... |
OMIM:243605 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Progressive visual loss, Curly hair, Cerebral visual impairment, Global brain atr... |
ORPHA:500150 |
Syndromic Diarrhea |
|
Trichorrhexis nodosa, Ventricular septal defect, Generalized hypopigmentation, Brittle hair, Cafe... |
ORPHA:84064 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Sparse scalp hair, Optic nerve hypoplasia |
OMIM:620029 |
Fucosidosis |
|
Spastic gait, Hepatomegaly, Cerebral atrophy, Cardiomegaly, Thick eyebrow, Splenomegaly |
OMIM:230000 |
Collagenoma, Familial Cutaneous |
|
Right ventricular cardiomyopathy, Iris atrophy, Cardiomyopathy |
OMIM:115250 |
Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Optic nerve hypoplasia, Sparse eyelashes, Dandy-Walker malformation, Cerebellar v... |
OMIM:605627 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Global brain atrophy, Ventricular septal defect, Truncus arteriosu... |
ORPHA:508488 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Amblyopia, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular h... |
OMIM:245600 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:206900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Ataxia |
ORPHA:31 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Hepatomegaly, Cardiomegaly, ... |
ORPHA:465508 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Vi... |
OMIM:300257 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cerebral cortical atrophy, Decreased methylmalonyl-CoA mutase activity, Visual impairment, Reduce... |
OMIM:277400 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Cerebral visual impairment |
ORPHA:255249 |
Craniosynostosis 4 |
|
Chiari type I malformation, Optic nerve hypoplasia |
OMIM:600775 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Subcortical cerebral atrophy, Synophrys, Hirsutism, Low posterior hairline, Cardiomegaly |
ORPHA:2463 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Aganglionic megacolon, Ataxia, Hypopigmen... |
ORPHA:163746 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Cerebellar hypoplasia |
OMIM:618886 |
Sickle Cell Disease |
|
Cardiomegaly, Retinopathy, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Concentric hypertrophic cardiomyopathy, Decreased pyr... |
OMIM:601992 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defect, Ata... |
OMIM:300967 |
Proboscis Lateralis |
|
Abnormal location of the eyebrow, Abnormal eyebrow morphology, Ventricular septal defect, Optic n... |
ORPHA:141099 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Aniridia 1 |
|
Retinal vascular tortuosity, Optic nerve hypoplasia, Hypoplasia of the fovea, Macular agenesis, C... |
OMIM:106210 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy, Spastic ataxia |
OMIM:277410 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Hypopigmentation of the skin, Cerebral cortical atrophy, Tip-toe gait, Brittle ha... |
OMIM:252500 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary window, Hepatomegaly, Optic nerve hypoplasia |
OMIM:620025 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Abnormality of the nail |
ORPHA:349 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Cystinosis, Nephropathic |
|
Splenomegaly, Retinopathy, Blindness, Hypopigmentation of the skin, Reduced visual acuity, Retina... |
OMIM:219800 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Optic atrophy, Cerebellar malformation, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Baller-Gerold Syndrome |
|
Chiari malformation, Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology, Myopia, Hi... |
OMIM:218600 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... |
ORPHA:99826 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cerebellar vermis hyp... |
ORPHA:228308 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Brain atrophy, Hepatosplenomegaly, Hepatomegaly, Visual impairment, Card... |
OMIM:618278 |
Glycogen Storage Disease Ii |
|
Difficulty walking, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Oculodentodigital Dysplasia |
|
Cataract, Ventricular septal defect, Microcornea, Abnormality iris morphology |
ORPHA:2710 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Motor axonal neuropathy, Inability to walk, Left ventricular hypertrophy, Hypertrophic cardiomyop... |
ORPHA:365 |
Ogden Syndrome |
|
Sparse eyebrow, Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septa... |
OMIM:300855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology |
ORPHA:91387 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Williams Syndrome |
|
Cerebral cortical atrophy, Chiari malformation, Abnormal cardiac septum morphology, Retinal arter... |
ORPHA:904 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal cerebellum morphology, Optic nerve hypoplasia |
ORPHA:226307 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Aicardi-Goutières Syndrome |
|
Brain atrophy, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Difficulty walking, Cardiomegaly,... |
ORPHA:51 |
Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Yunis-Varon Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Cardiomegaly, Ventricular septal defect, Aplasia/Hypoplasia of... |
ORPHA:3472 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormality of secondary sexual hair, Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, High anterior hairline, Myopia, Onycholysis, Aortic valve stenosis, ... |
OMIM:182250 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Beckwith-Wiedemann Syndrome |
|
Melanocytic nevus, Chiari malformation, Choroideremia, Enlarged kidney, Hypertrophic cardiomyopat... |
ORPHA:116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Sparse axillary hair, Hyperpigmentation of the skin, Hypertrichosis, H... |
OMIM:256040 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia |
OMIM:610829 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Dry hair, Patent foramen ovale, Dilatation of the ventricular cavity... |
OMIM:619991 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dandy-Walker malformation, C... |
OMIM:130650 |
Generalized Arterial Calcification Of Infancy |
|
Retinal hemorrhage, Ventricular hypertrophy, Angioid streaks of the fundus, Abnormal retinal arte... |
ORPHA:51608 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |