| Occipital Hair, White Lock Of |
|
White hair, Abnormal hair morphology |
OMIM:310900 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... |
ORPHA:42665 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Abcd Syndrome |
|
Albinism, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair |
ORPHA:1410 |
| Waardenburg Syndrome, Type 4B |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... |
OMIM:613265 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... |
OMIM:607624 |
| Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... |
OMIM:616648 |
| Ermine Phenotype |
|
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... |
OMIM:227010 |
| White Forelock With Malformations |
|
Atrial septal defect, White forelock, Poliosis |
OMIM:277740 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon,... |
ORPHA:895 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| Woolly Hair |
|
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... |
ORPHA:170 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Waardenburg Syndrome, Type 2A |
|
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, Synophrys, White eyelas... |
OMIM:193510 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides |
OMIM:606574 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:2885 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction, Abnormal motor evoked potentials, Abnormal auditory evoked... |
ORPHA:320401 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair |
ORPHA:1355 |
| Hypotrichosis 8 |
|
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... |
OMIM:278150 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Waardenburg Syndrome, Type 4A |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... |
OMIM:277580 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly, Macrotia |
OMIM:613576 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... |
OMIM:601706 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, Optic atrophy... |
ORPHA:33445 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Hearing impairmen... |
OMIM:252920 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin |
OMIM:619165 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Abnormal autonomic nervous system physiology, Nephropathy, Cardiomegal... |
ORPHA:85447 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... |
OMIM:203200 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia, Abnormal heart morphology |
ORPHA:1067 |
| Piebaldism |
|
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Aganglionic megacolon, Synophrys, ... |
ORPHA:2884 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy |
OMIM:125250 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
ORPHA:2786 |
| Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, Hearing impairment, White forelock |
OMIM:172850 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Nephr... |
OMIM:617713 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity |
OMIM:601455 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... |
ORPHA:894 |
| Elejalde Disease |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Infantile Sialic Acid Storage Disease |
|
Fair hair, Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly, Hypopigmentation of the ... |
OMIM:269920 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Vogt-Koyanagi-Harada Disease |
|
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... |
ORPHA:3437 |
| Piebald Trait |
|
Heterochromia iridis, Aganglionic megacolon, Partial albinism, White forelock, Absent pigmentatio... |
OMIM:172800 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Hearing impairment, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:858 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, Hypopigmentation of the skin |
ORPHA:411515 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... |
ORPHA:79435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macrotia |
OMIM:300886 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Heterochromia iridis, White eyebrow, Abnormal autonomic ner... |
OMIM:609136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys |
OMIM:619064 |
| Oculocutaneous Albinism |
|
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... |
ORPHA:55 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Sensorineural hearing impairment, Cardiomegaly, Urinary excretion of sialylated oli... |
OMIM:256550 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor |
OMIM:619170 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Hepatomegaly, Partial... |
ORPHA:79477 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital, generalized hypertrichosis, Long eyelashes, Congenital hypertro... |
OMIM:239850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Hearing impairment, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... |
ORPHA:52368 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:201050 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hyperpigmentation of the skin, Cardiomegaly, Alopecia, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
| Ermine Phenotype |
|
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... |
ORPHA:999 |
| Carney Complex, Type 1 |
|
Freckling, Red hair, Hirsutism, Cardiac myxoma, Profuse pigmented skin lesions, Multiple lentigines |
OMIM:160980 |
| Naxos Disease |
|
Onycholysis, Curly hair, Woolly hair, Abnormal morphology of right ventricular trabeculae, Sparse... |
OMIM:601214 |
| Lethal Acantholytic Erosive Disorder |
|
Absent toenail, Absent eyelashes, Absent fingernail, Absent eyebrow, Abnormality of the helix, Ca... |
ORPHA:158687 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... |
ORPHA:79432 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Sensorineural hearing impairment, Cardiomegaly, ... |
OMIM:618652 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Pigmentary retinopathy, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
| Waardenburg Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... |
ORPHA:3440 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Macrotia, Low-set, posteriorly rotated ears, Optic nerve hypopl... |
OMIM:618156 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Sensorineural hearing impairment, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... |
OMIM:601375 |
| Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair |
ORPHA:2221 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... |
ORPHA:352731 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:79434 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... |
OMIM:115197 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Synophrys |
OMIM:619260 |
| Waardenburg Syndrome, Type 4C |
|
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... |
OMIM:613266 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Cardiomegaly |
OMIM:618838 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... |
ORPHA:255249 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Red hair, Blue irides, Fair hair |
OMIM:614613 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, EEG with focal epileptiform discharges, EEG abno... |
ORPHA:98795 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| 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 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... |
OMIM:300257 |
| Cockayne Syndrome A |
|
Abnormality of skin pigmentation, Dry hair, Sparse hair, Pigmentary retinopathy, Retinal pigment ... |
OMIM:216400 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... |
OMIM:611584 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Generalized hirsutism, Low anterior hairline, Abnormal heart valve morphology, Long eyelashes, Th... |
ORPHA:1517 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmented ... |
ORPHA:53271 |
| Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Dry hair, Sparse hair, Pigmentary retinopathy, Abnormal hair mo... |
OMIM:133540 |
| Hsd10 Disease, Infantile Type |
|
Hearing impairment, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Optic atr... |
ORPHA:391428 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
| Adult Krabbe Disease |
|
Urinary incontinence, Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Posteriorly rotated ears, Hydronephrosis, Cardiomegaly, Hypospadias, L... |
OMIM:616897 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
| Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Macrotia, Hepatomegaly, Hearing impairment, Absent brainstem auditory res... |
ORPHA:90321 |
| Fucosidosis |
|
Abnormality of the nail, Mucopolysacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly |
ORPHA:349 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoplastic toenails, Dilated cardiomyopathy, Enlarged kidney, Overfolded helix, Posteriorly rota... |
OMIM:608836 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macrotia, Overfolded helix, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Ca... |
ORPHA:324410 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... |
ORPHA:79431 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Sensorineural hearing impairment, Hyp... |
ORPHA:3214 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse, Hearing impairment, Red hair |
OMIM:229200 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... |
OMIM:203100 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Hearing impairm... |
OMIM:602782 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... |
ORPHA:99027 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria |
ORPHA:42 |
| Beck-Fahrner Syndrome |
|
Protruding ear, EEG abnormality, Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Atrial septal defect, Abnormal heart morphology, Renal hypoplasia, Vent... |
ORPHA:84064 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Decreased nerv... |
OMIM:214500 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Absent brainstem auditory responses, Sensorineural hearing impairment, Opti... |
ORPHA:101085 |
| Mucopolysaccharidosis Type 3 |
|
Hirsutism, Coarse hair, Sensorineural hearing impairment, Cardiomegaly, Abnormal myocardium morph... |
ORPHA:581 |
| Vici Syndrome |
|
Penile hypospadias, Albinism, Hypopigmentation of hair, Ocular albinism, Sensorineural hearing im... |
OMIM:242840 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
| Trisomy 10P |
|
Low voltage EEG, Multiple renal cysts, Macrotia, Abnormal heart morphology, EEG with burst suppre... |
ORPHA:171929 |
| Fucosidosis |
|
Oligosacchariduria, Hepatomegaly, Hearing impairment, Thick eyebrow, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic c... |
OMIM:201475 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Overfolded helix, Abnormal cardiac septum ... |
ORPHA:96169 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... |
OMIM:306955 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Microtia |
OMIM:613320 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, Hypopigmentation of the skin |
ORPHA:411511 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... |
ORPHA:1457 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Generalized bronze hyperpigmentation, Hepatomegaly, Hyperpigmentation of the skin, Cardiomegaly, ... |
ORPHA:465508 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Tubuloi... |
ORPHA:228308 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, EEG with abnormally slow freque... |
ORPHA:98794 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Acute kidney injury, Proteinuria |
OMIM:618886 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly, 3-Methylglutaconic aciduria |
OMIM:619259 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Abnormality of the nail, Generalized hypopigmentation of hair, Aplas... |
ORPHA:238468 |
| Sandhoff Disease |
|
Orthostatic hypotension, Urinary incontinence, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 95 |
|
Highly arched eyebrow, Thickened helices, EEG with burst suppression, Posteriorly rotated ears, H... |
OMIM:618143 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Macrotia, Hirsutism, Synophrys, Cardiomegaly, Low posterior hairline |
ORPHA:2463 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... |
ORPHA:163746 |
| Sickle Cell Anemia |
|
Hematuria, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency |
OMIM:603903 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly, Left ventricular hypertrophy,... |
ORPHA:308552 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal atrial septum morphology, Abnormal motor evoked potentials, Abnormal auditory evoked pot... |
ORPHA:909 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy, Pollakisuria |
ORPHA:268 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Conductive hearing impairment, Pulmonic stenosis, Sensorineural... |
ORPHA:90354 |
| Mend Syndrome |
|
Spotty hypopigmentation, Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal hea... |
ORPHA:401973 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism, Sensorineural hearing impairmen... |
ORPHA:2719 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Prominent antitragus, Thick eyebrow, Cardiomegaly, Left ventricular hypertr... |
OMIM:245600 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy |
OMIM:261740 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... |
ORPHA:1329 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia |
OMIM:608013 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... |
ORPHA:79430 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Sparse scalp hair, Generalized h... |
ORPHA:3322 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Mucolipidosis Ii Alpha/Beta |
|
Mucopolysacchariduria, Hepatomegaly, Sparse and thin eyebrow, Cardiomegaly, Splenomegaly, Hypertr... |
OMIM:252500 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Synophrys, Urinary retention, Cardiomegaly, Hypertrichosis, Ab... |
ORPHA:97297 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased n... |
ORPHA:167 |
| Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia,... |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hearing impairment, Tinnitus, Cardiomegaly |
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Multiple renal cysts, Posterior helix pit, Enlarged kidney, Congenital megaureter, ... |
ORPHA:116 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Overfolded helix, Widow's peak, Coarse hair, Posteriorly rota... |
ORPHA:1974 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Abnormality of ear... |
ORPHA:96191 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Atrial septal defect, Micropenis, Hypopigmentation of the skin |
ORPHA:398069 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Pigmentary retinopathy, Generalized aminoaciduria, Retinal pigment epit... |
OMIM:219800 |
| Prader-Willi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Micropenis, Fronta... |
OMIM:176270 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Micropenis, Hypopigmentation of the skin |
ORPHA:398079 |
| Greenberg Dysplasia |
|
Absent toenail, Hepatomegaly, Cardiomegaly, Hypoplastic fingernail, Hepatosplenomegaly |
OMIM:215140 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hepatomegaly, Renal cyst, Cardiomegaly, Optic atrophy |
ORPHA:137675 |
| Carney Complex |
|
Increased urinary cortisol level, Red hair, Hirsutism, Cardiac myxoma, Cafe-au-lait spot, Multipl... |
ORPHA:1359 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... |
ORPHA:3384 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Renovascular hypertension, Spars... |
ORPHA:3472 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Macrotia, Sparse axillary hair, Hepatomegaly, Hypertrichosis, Cardiome... |
OMIM:256040 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of hair, Abnormal heart morphology, Hyperpigmentation of ... |
ORPHA:177907 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Hypercalciuria, Vesicoureteral reflux, Sensorineural hearing imp... |
ORPHA:904 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly, Left ventricular hypertrophy,... |
ORPHA:365 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Atrial septal defect, Ventricular septal defect, Low-set, posteriorly r... |
ORPHA:818 |
| Menkes Disease |
|
Hypopigmentation of hair, Woolly hair, Sparse hair, Bladder diverticulum |
ORPHA:565 |
| Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:14 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... |
OMIM:300967 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Stapes ankylosis, Conductive hearing impairment, Peri... |
ORPHA:51608 |
| Prader-Willi-Like Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398073 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Tropical Endomyocardial Fibrosis |
|
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... |
ORPHA:75565 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Red hair, Blue irides, Fair hair |
ORPHA:280651 |
| Singleton-Merten Syndrome 1 |
|
Onycholysis, Mitral valve calcification, High anterior hairline, Aortic valve stenosis, Cardiomeg... |
OMIM:182250 |
