Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Waardenburg Syndrome, Type 2F |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... |
OMIM:619947 |
Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... |
OMIM:616648 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Abcd Syndrome |
|
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... |
OMIM:600501 |
Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Hypopigmented skin patches, Blue irides, White eyebrow, White e... |
OMIM:613265 |
Ermine Phenotype |
|
Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, Vitiligo, White eyebrow, Wh... |
OMIM:227010 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Hepatosplenomegaly, Sil... |
OMIM:607624 |
White Forelock With Malformations |
|
Poliosis, White forelock, Atrial septal defect |
OMIM:277740 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Hypopigm... |
ORPHA:895 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, Albinism, White ... |
OMIM:193510 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... |
ORPHA:2885 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Waardenburg Syndrome, Type 4A |
|
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... |
OMIM:277580 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... |
OMIM:601706 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly, Macrotia |
OMIM:613576 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Hypo... |
ORPHA:897 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... |
ORPHA:33445 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulfate excretion in urine, Synophrys... |
OMIM:252920 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomyopa... |
ORPHA:85447 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Piebaldism |
|
Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, White eyebrow, White ... |
ORPHA:2884 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... |
OMIM:617713 |
Piebald Trait With Neurologic Defects |
|
White forelock, Hearing impairment, Absent pigmentation of the ventral chest |
OMIM:172850 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Waardenburg Syndrome Type 1 |
|
Congenital sensorineural hearing impairment, Premature graying of hair, Thick eyebrow, Hypopigmen... |
ORPHA:894 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Cardiome... |
OMIM:269920 |
Vogt-Koyanagi-Harada Disease |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnor... |
ORPHA:3437 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Piebaldism, Aga... |
OMIM:172800 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macrotia |
OMIM:300886 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Toxoplasmosis |
|
Hearing impairment, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Hepatomegaly, A... |
ORPHA:79330 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality |
ORPHA:411515 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, EEG with abnormally slow frequencies, Multifocal epileptiform discharge... |
ORPHA:70472 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Long eyelashes, Hepatomegaly, Synophrys, Cardiomegaly |
OMIM:619064 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oli... |
OMIM:256550 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... |
ORPHA:85451 |
Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Patent foramen... |
OMIM:618652 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly, Hypopigmentation of t... |
OMIM:618541 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Pr... |
ORPHA:79477 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... |
OMIM:239850 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Abnormal helix morphology, Absent hair, Congenital alopecia totalis, A... |
ORPHA:158687 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Hearing impairment, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Ermine Phenotype |
|
Sensorineural hearing impairment, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation ... |
ORPHA:999 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Splenomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
OMIM:105210 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Synophrys, Abnormal auditory evoked potentials |
OMIM:619260 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Naxos Disease |
|
Woolly hair, Right ventricular cardiomyopathy, Sparse eyebrow, Abnormal morphology of right ventr... |
OMIM:601214 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Abnormality of hair pigmentation, Optic nerve hypoplasia, Hypospadias, Low... |
OMIM:618156 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
OMIM:266500 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair, Cardiac myxoma |
OMIM:160980 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Leigh Syndrome With Nephrotic Syndrome |
|
EEG with focal spikes, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Renal cyst,... |
ORPHA:255249 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG abnormality, EEG with focal epileptiform discharges, Hypopigmentation of the skin, Hypopigmen... |
ORPHA:98795 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Red hair, Fair hair, Blue irides |
OMIM:614613 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Waardenburg Syndrome, Type 4C |
|
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... |
OMIM:613266 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Cardiomegaly |
OMIM:618838 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Hypertrichosis, Atrial septal defect, Aortic valve stenosis, Low anterior ... |
ORPHA:363705 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Cantú Syndrome |
|
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Curly eyelashes, Long eyelashes, Abn... |
ORPHA:1517 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Low-set ea... |
OMIM:616897 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented ... |
ORPHA:53271 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair |
ORPHA:100 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Hearing impairment, Hypertro... |
ORPHA:391428 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Hypermelanotic macule, Pigmentary retinopathy,... |
ORPHA:90321 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials, Urinary incontinence |
ORPHA:206448 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Hearing impairment, Abnormality of the nail, Cardiomegaly |
ORPHA:349 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:133540 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyp... |
ORPHA:3214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Overfolded helix, Mitral valve prolapse, Macrotia, Abnormal atrioventricul... |
ORPHA:324410 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse, Hearing impairment, Red hair |
OMIM:229200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... |
OMIM:216400 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Protruding ear, EEG abnormality, Cardiomegaly |
OMIM:618798 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Hearing impairment, Hypopigmented skin patche... |
ORPHA:206436 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Sensorineural hearing impairment, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic sten... |
OMIM:602782 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Hepatomegaly, Atrial septal defect, Woolly hair, Splenomegaly, Generalized... |
ORPHA:84064 |
Vici Syndrome |
|
Sensorineural hearing impairment, Ocular albinism, Hypopigmentation of the skin, Left ventricular... |
OMIM:242840 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Coarse hair, Heparan sulfate excretion in urine, ... |
ORPHA:581 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... |
ORPHA:101085 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... |
OMIM:306955 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Hepatomegaly, Long-chain dicarboxylic aciduria, Overfolded helix, Ureteral ... |
OMIM:608836 |
Chediak-Higashi Syndrome |
|
Ocular albinism, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Hypopigmentatio... |
OMIM:214500 |
Trisomy 10P |
|
EEG with focal spikes, Multiple renal cysts, Low voltage EEG, EEG with burst suppression, Abnorma... |
ORPHA:171929 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Low-set ears, Cardiomegaly, Microtia |
OMIM:613320 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Protruding ear, Abnormality of hair texture, Bicuspid aortic ... |
ORPHA:96169 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality |
ORPHA:411511 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Generalized bronze hyperpigmentation, Hepatomegaly, Splenomegaly, Hyperpigmentation of the skin, ... |
ORPHA:465508 |
Fucosidosis |
|
Glycopeptiduria, Thick eyebrow, Hepatomegaly, Oligosacchariduria, Splenomegaly, Hearing impairmen... |
OMIM:230000 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG abnormality, Hypopigmentation of the skin, Hypopigmentation of hair, EEG with abnormally slow... |
ORPHA:98794 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Isolated Right Ventricular Hypoplasia |
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Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Sensorineural hearing impairment, Abnormal eyebrow morphology, Hepatomegaly, Hypopigmented skin p... |
ORPHA:163746 |
Classic Phenylketonuria |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... |
ORPHA:228308 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Hypohidrotic Ectodermal Dysplasia |
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Nephrotic syndrome, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of th... |
ORPHA:238468 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Highly arched eyebrow, EEG with burst suppression, Hearing impairment, Posteriorly ... |
OMIM:618143 |
Sandhoff Disease |
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Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... |
ORPHA:308552 |
Mend Syndrome |
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Aortic valve stenosis, Abnormal auditory evoked potentials, Spotty hypopigmentation, Low-set ears... |
ORPHA:401973 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Hirsutism, Synophrys, Macrotia, Cardiomegaly, Low posterior hairline |
ORPHA:2463 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... |
ORPHA:909 |
Brittle Cornea Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation... |
ORPHA:90354 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy |
ORPHA:268 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Prominent antitragus, Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Microtia, Left ... |
OMIM:245600 |
Sickle Cell Anemia |
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Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly |
OMIM:603903 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Sensorineural hearing impairment, EEG abnormality, Ocular albinism, Hypopigmentation of hair, Ure... |
ORPHA:2719 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Craniofaciofrontodigital Syndrome |
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Low-set ears, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Cirrhotic Cardiomyopathy |
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Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Splenomegaly, Microtia, Hepatosplenomegaly, Low-set ears, Cardiomegaly |
OMIM:608013 |
Hermansky-Pudlak Syndrome |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Degcags Syndrome |
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Hypertrichosis, Hepatomegaly, Abnormal renal medulla morphology, Ventricular septal defect, Long ... |
OMIM:619488 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Sparse hair, Sparse eyebrow, Splenomegaly, Brittle hair, Hypopigmentation of the sk... |
OMIM:252500 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiomegaly |
OMIM:614921 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Splenomegaly, Hearing impairment, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
Chédiak-Higashi Syndrome |
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Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... |
ORPHA:167 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Posterior helix pit, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia,... |
OMIM:130650 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Hypertrichosis, Low-set, posteriorly rotated ears, Optic atro... |
ORPHA:97297 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
Ogden Syndrome |
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Protruding ear, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Spars... |
OMIM:300855 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Overfolded helix, Coarse hair, Dry hair, Hypopigmentation of hair, Widow's peak, Posteriorly rota... |
ORPHA:1974 |
Cystinosis, Nephropathic |
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Nephrolithiasis, Medullary nephrocalcinosis, Hepatomegaly, Aminoaciduria, Splenomegaly, Retinal p... |
OMIM:219800 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Posterior helix pit, Otosclerosis, Hepatomegaly, Splenomegaly, Congenital megaur... |
ORPHA:116 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Atrial septal defect, Micropenis |
ORPHA:398069 |
Prader-Willi Syndrome |
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Generalized hypopigmentation, Hypopigmentation of the skin, Micropenis, Frontal upsweep of hair, ... |
OMIM:176270 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Hypoplastic fingernail, Car... |
ORPHA:96191 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Micropenis |
ORPHA:398079 |
Congenital Tracheomalacia |
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Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Abnormal pinna morphology, Atrial septal defect, Sparse eyebrow, Sparse eyelas... |
ORPHA:3472 |
Prader-Willi Syndrome Due To Translocation |
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Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... |
ORPHA:177907 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Optic atrophy, Ventricular septal defect, Renal cyst, Cardiomegaly |
ORPHA:137675 |
Smith-Lemli-Opitz Syndrome |
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Sensorineural hearing impairment, Atrial septal defect, Hypoplasia of penis, Atrioventricular can... |
ORPHA:818 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypertrichosis, Hepatomegaly, Splenomegaly, Sparse axillary hair, Hyperpigmentation of the skin, ... |
OMIM:256040 |
Absence Of The Pulmonary Artery |
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Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... |
ORPHA:365 |
Truncus Arteriosus |
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Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Williams Syndrome |
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Abnormal cardiac septum morphology, Blue irides, Ventricular septal defect, Proteinuria, Abnormal... |
ORPHA:904 |
Menkes Disease |
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Bladder diverticulum, Hypopigmentation of hair, Woolly hair, Sparse hair |
ORPHA:565 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Atrial septal defect, Aminoaciduria, Splenomegaly, Hypospadias, Dry hair, Cholestea... |
OMIM:619991 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98754 |
Abetalipoproteinemia |
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Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177901 |
Aicardi-Goutières Syndrome |
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Micropenis, Hepatosplenomegaly, Low-set ears, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:398073 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
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Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Medullary neph... |
ORPHA:51608 |
Acrodysostosis With Multiple Hormone Resistance |
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Hypospadias, Red hair, Fair hair, Blue irides |
ORPHA:280651 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |