Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
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 |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
White Forelock With Malformations |
|
Atrial septal defect, White forelock, Poliosis |
OMIM:277740 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... |
OMIM:613265 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... |
OMIM:607624 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... |
OMIM:193510 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... |
OMIM:601706 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... |
OMIM:277580 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Asymmetr... |
OMIM:252920 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Macrotia, Cardiomegaly |
OMIM:613576 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal... |
ORPHA:85447 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... |
ORPHA:2884 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... |
ORPHA:894 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Fair hair, Hypopigmentation of the ... |
OMIM:269920 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... |
ORPHA:3437 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline |
OMIM:617523 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... |
OMIM:172800 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Absent brainstem auditory responses, Cardiomegaly, Sensorineur... |
ORPHA:79330 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Hearing impairment, Cardiomegaly |
ORPHA:858 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Synophr... |
OMIM:300280 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrotia, Cardiomegaly |
OMIM:300886 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, EEG with abnormally slow frequencies, Multifocal epileptiform discharge... |
ORPHA:70472 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Synophrys, Long eyelashes, Cardiomegaly |
OMIM:619064 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Premature graying of hair... |
ORPHA:79477 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Atrial s... |
OMIM:618652 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat... |
OMIM:618541 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Absent... |
ORPHA:158687 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... |
ORPHA:3440 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... |
OMIM:239850 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Right ventricular ... |
OMIM:601214 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
Ermine Phenotype |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... |
ORPHA:999 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Hyperpigmentation of the skin |
OMIM:235200 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Hypospadias, Posteriorly rotated ears, Abnormality... |
OMIM:618156 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction |
OMIM:253250 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Nephrot... |
OMIM:617713 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, EEG with focal epileptiform discharges, EEG abnormality, Hypopigmentati... |
ORPHA:98795 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Cardiomegaly |
OMIM:618838 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... |
OMIM:613266 |
Refsum Disease, Classic |
|
Cardiomyopathy, Sensorineural hearing impairment, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides, Hypospadias |
OMIM:614613 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Micropenis, Large... |
OMIM:616897 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine... |
ORPHA:391428 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Hypermelanot... |
ORPHA:90321 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin... |
ORPHA:53271 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... |
ORPHA:3214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Brittle Cornea Syndrome 1 |
|
Red hair, Hearing impairment, Mitral valve prolapse |
OMIM:229200 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal aud... |
OMIM:133540 |
Beck-Fahrner Syndrome |
|
EEG abnormality, Protruding ear, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Aortic valve ste... |
ORPHA:324410 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Mucopolysacchariduria, Abnormality of the nail, Hearing impairment |
ORPHA:349 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal aud... |
OMIM:216400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au... |
OMIM:105210 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Sensorineural hearing impair... |
OMIM:602782 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:84064 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... |
ORPHA:101085 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Angelman Syndrome Due To A Point Mutation |
|
EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Decreased nerve conduction velocity, Splenomegaly, Silver... |
OMIM:214500 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Long-chain dic... |
OMIM:608836 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Bicuspid aortic valve, Hypospadias, Abnormality o... |
ORPHA:96169 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Coarse hair, Conductive hearing impairment, Thickened helices, Generaliz... |
ORPHA:581 |
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 |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Microtia, Low-set ears, Cardiomegaly |
OMIM:613320 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, EEG with abnormally slow frequencies, EEG abnormality, Hypopigmentation... |
ORPHA:98794 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... |
ORPHA:163746 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Generalized bronze hyperpigmentation, H... |
ORPHA:465508 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Nephrotic syndrome,... |
ORPHA:238468 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
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, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, 3-Methylglutaconic aciduria, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Brittle Cornea Syndrome |
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Sensorineural hearing impairment, Abnormality of hair pigmentation, Mitral valve prolapse, Pulmon... |
ORPHA:90354 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Posteriorly rotated ears, Highly arched eyebrow, Cardiomegaly, EEG with burst suppr... |
OMIM:618143 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Spotty hypopigmentation, Abnormal heart morphology, Low-set ... |
ORPHA:401973 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly, Synophrys, Low posterior hairline, Macrotia, Hirsutism |
ORPHA:2463 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Prominent antitragus, Mitral valve prolapse, Low posterior h... |
OMIM:245600 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Low-set ears, Thic... |
OMIM:230000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... |
OMIM:261740 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ureteral stenosis, Sensorineural hearing impairment, Ocular albinism, E... |
ORPHA:2719 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Vici Syndrome |
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Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Dilated cardiomyopathy, Ocu... |
OMIM:242840 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Sickle Cell Disease |
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Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Renal insufficiency, Partial albinism, Ocular albinism, Melanocytic nev... |
ORPHA:79430 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia, Low-set ears |
OMIM:608013 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Lethal Congenital Contracture Syndrome 10 |
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Overriding aorta, Ventricular septal defect, Low-set ears, Cardiomegaly |
OMIM:617022 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Degcags Syndrome |
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Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormality of skin pigmentation, P... |
OMIM:619488 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Hearing impairment |
OMIM:232300 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Sp... |
OMIM:252500 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Pericardial effusion, Splenomegaly... |
ORPHA:167 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Bohring-Opitz Syndrome |
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Low-set, posteriorly rotated ears, Cardiomegaly, Synophrys, Optic atrophy, Abnormal cardiac septu... |
ORPHA:97297 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
Cystinosis, Nephropathic |
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Hepatomegaly, Hypopigmentation of hair, Renal insufficiency, Hyperphosphaturia, Proteinuria, Poly... |
OMIM:219800 |
Ogden Syndrome |
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Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Patent foramen ovale, Abnormal heart morphology, Stellate iris, Hypopig... |
ORPHA:177907 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Micropenis, Hypo... |
OMIM:176270 |
Magel2-Related Prader-Willi-Like Syndrome |
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Atrial septal defect, Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis |
ORPHA:398069 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Otosclerosis, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hy... |
ORPHA:116 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Micropenis |
ORPHA:398079 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Hypospadias, Cardiomegaly, Sparse... |
ORPHA:3472 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Abnormal earlobe morphology, Hypoplastic f... |
ORPHA:96191 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Low-set, posteriorly rotated ears, Hypopigmentation of hair, ... |
ORPHA:818 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst |
ORPHA:137675 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Protruding ear, N... |
ORPHA:904 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Sparse axillary hair, Cardiomegaly, Splenomegaly, Premature graying of hair, Macrot... |
OMIM:256040 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Bladder diverticulum |
ORPHA:565 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Dry hair, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiome... |
OMIM:619991 |
Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:14 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Micropenis, Low-set ears, Hypertrophic cardiomyopathy |
ORPHA:51 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Stapes ankylosis, Hyperphosphaturia, Mixed hearing impairment, Calcifica... |
ORPHA:51608 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Ony... |
OMIM:182250 |