| 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 |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Hepatomegaly, Hypopigmented skin p... |
ORPHA:163746 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... |
ORPHA:228308 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of th... |
ORPHA:238468 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Highly arched eyebrow, EEG with burst suppression, Hearing impairment, Posteriorly ... |
OMIM:618143 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... |
ORPHA:308552 |
| Mend Syndrome |
|
Aortic valve stenosis, Abnormal auditory evoked potentials, Spotty hypopigmentation, Low-set ears... |
ORPHA:401973 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hirsutism, Synophrys, Macrotia, Cardiomegaly, Low posterior hairline |
ORPHA:2463 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... |
ORPHA:909 |
| Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation... |
ORPHA:90354 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy |
ORPHA:268 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Prominent antitragus, Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Microtia, Left ... |
OMIM:245600 |
| Sickle Cell Anemia |
|
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly |
OMIM:603903 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Sensorineural hearing impairment, EEG abnormality, Ocular albinism, Hypopigmentation of hair, Ure... |
ORPHA:2719 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
| Craniofaciofrontodigital Syndrome |
|
Low-set ears, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Microtia, Hepatosplenomegaly, Low-set ears, Cardiomegaly |
OMIM:608013 |
| Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Degcags Syndrome |
|
Hypertrichosis, Hepatomegaly, Abnormal renal medulla morphology, Ventricular septal defect, Long ... |
OMIM:619488 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Sparse hair, Sparse eyebrow, Splenomegaly, Brittle hair, Hypopigmentation of the sk... |
OMIM:252500 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiomegaly |
OMIM:614921 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Hearing impairment, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
| Chédiak-Higashi Syndrome |
|
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... |
ORPHA:167 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Posterior helix pit, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia,... |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Hypertrichosis, Low-set, posteriorly rotated ears, Optic atro... |
ORPHA:97297 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
| Ogden Syndrome |
|
Protruding ear, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Spars... |
OMIM:300855 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Overfolded helix, Coarse hair, Dry hair, Hypopigmentation of hair, Widow's peak, Posteriorly rota... |
ORPHA:1974 |
| Cystinosis, Nephropathic |
|
Nephrolithiasis, Medullary nephrocalcinosis, Hepatomegaly, Aminoaciduria, Splenomegaly, Retinal p... |
OMIM:219800 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Posterior helix pit, Otosclerosis, Hepatomegaly, Splenomegaly, Congenital megaur... |
ORPHA:116 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Atrial septal defect, Micropenis |
ORPHA:398069 |
| Prader-Willi Syndrome |
|
Generalized hypopigmentation, Hypopigmentation of the skin, Micropenis, Frontal upsweep of hair, ... |
OMIM:176270 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Hypoplastic fingernail, Car... |
ORPHA:96191 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Micropenis |
ORPHA:398079 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Abnormal pinna morphology, Atrial septal defect, Sparse eyebrow, Sparse eyelas... |
ORPHA:3472 |
| Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... |
ORPHA:177907 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Optic atrophy, Ventricular septal defect, Renal cyst, Cardiomegaly |
ORPHA:137675 |
| Smith-Lemli-Opitz Syndrome |
|
Sensorineural hearing impairment, Atrial septal defect, Hypoplasia of penis, Atrioventricular can... |
ORPHA:818 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Hepatomegaly, Splenomegaly, Sparse axillary hair, Hyperpigmentation of the skin, ... |
OMIM:256040 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... |
ORPHA:365 |
| Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Blue irides, Ventricular septal defect, Proteinuria, Abnormal... |
ORPHA:904 |
| Menkes Disease |
|
Bladder diverticulum, Hypopigmentation of hair, Woolly hair, Sparse hair |
ORPHA:565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Atrial septal defect, Aminoaciduria, Splenomegaly, Hypospadias, Dry hair, Cholestea... |
OMIM:619991 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98754 |
| Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177901 |
| Aicardi-Goutières Syndrome |
|
Micropenis, Hepatosplenomegaly, Low-set ears, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:398073 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
| Generalized Arterial Calcification Of Infancy |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Medullary neph... |
ORPHA:51608 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Red hair, Fair hair, Blue irides |
ORPHA:280651 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |
