Glycogen Storage Disease Xiii |
|
Reduced muscle enolase activity, Elevated circulating creatine kinase concentration |
OMIM:612932 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Hepatomegaly, Elevated hepatic transaminase |
OMIM:606664 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating alka... |
OMIM:616829 |
Dimethylglycine Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... |
ORPHA:243343 |
Albinism, Oculocutaneous, Type Iii |
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Partial albinism, Red hair, Albinism |
OMIM:203290 |
Hyperinsulinism Due To Insr Deficiency |
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Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
Griscelli Syndrome, Type 2 |
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Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in ha... |
OMIM:607624 |
Tietz Syndrome |
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White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Hidrotic Ectodermal Dysplasia |
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Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... |
OMIM:147480 |
Bile Acid Conjugation Defect 1 |
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Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
OMIM:619232 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Osteoporosis |
ORPHA:2786 |
Obesity Due To Prohormone Convertase I Deficiency |
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Hyperinsulinemia, Failure to thrive, Hypoglycemic seizures, Hypopigmentation of the skin, Red hai... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Hyperinsulinemia, Failure to thrive, Hypoglycemic seizures, Hypopigmentation of the skin, Red hai... |
ORPHA:71526 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Waardenburg Syndrome, Type 2F |
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Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... |
OMIM:240900 |
Growth Hormone Insensitivity Syndrome |
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Diabetes mellitus, Fine hair, Abnormality of the nail, Truncal obesity, Failure to thrive, Type I... |
ORPHA:181393 |
Albinism, Oculocutaneous, Type Ib |
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Hypopigmentation of the skin, Hypopigmentation of hair, Albinism |
OMIM:606952 |
Woolly Hair |
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Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia |
OMIM:610021 |
Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypogly... |
OMIM:232700 |
Uncombable Hair Syndrome |
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Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
Dilution, Pigmentary |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
OMIM:126070 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alp... |
OMIM:619662 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... |
OMIM:618963 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity |
OMIM:620195 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Hypotrichosis 8 |
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Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
Albinism, Oculocutaneous, Type Ii |
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Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... |
OMIM:203200 |
Waardenburg Syndrome, Type 2A |
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Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... |
OMIM:193510 |
Waardenburg Syndrome, Type 4B |
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Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hyperlipidemia, Hypopigmentat... |
ORPHA:79477 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Premature graying of hair, Lymphopenia, Failure to thrive, Multiple cafe-au-la... |
ORPHA:100 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Diabetic ketoacidosi... |
OMIM:262190 |
Waardenburg Syndrome Type 2 |
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Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... |
ORPHA:895 |
Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
Ermine Phenotype |
|
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow |
OMIM:227010 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:256710 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... |
OMIM:620211 |
Woolly Hair Nevus |
|
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... |
ORPHA:79414 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Diabetes mellitus, Advanced ossification of carpal bones, Red hair, Fair hair, Obesity |
OMIM:614613 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... |
ORPHA:897 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... |
ORPHA:894 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... |
OMIM:618156 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity |
ORPHA:177910 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Premature graying of ... |
OMIM:613989 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair, Osteopetrosis, Splenom... |
OMIM:618541 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Abnormal number of dense granules |
OMIM:614072 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dia... |
ORPHA:231222 |
Piebaldism |
|
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Generalized hirsutism, Weight loss |
ORPHA:2221 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... |
ORPHA:79435 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity |
ORPHA:411515 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Oculocutaneous Albinism |
|
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... |
ORPHA:55 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Premature graying of hair, Failure to thrive, Thrombocytopenia, Nail dystrophy, Abnormal ... |
ORPHA:3322 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Large for gestational age... |
OMIM:616026 |
Muenke Syndrome |
|
Coronal craniosynostosis, Hypopigmented skin patches, Hypermelanotic macule, Carpal synostosis, H... |
ORPHA:53271 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair, Hypoglycemic seizures, Obesity |
OMIM:609734 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel... |
OMIM:214500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Panniculitis, Elevated circulating C-r... |
OMIM:617099 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... |
ORPHA:352731 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... |
ORPHA:79432 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Inguinal hernia, Anemia, Fine hair, Lymphopenia, White hair |
ORPHA:935 |
Brittle Cornea Syndrome |
|
Camptodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractures, Joint hyper... |
ORPHA:90354 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hemophagocytosis, Large clumps of pigment irregularly distributed along h... |
ORPHA:167 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Oculocutaneous Albinism Type 1B |
|
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:79434 |
Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin, Joint laxity |
OMIM:229200 |
Menkes Disease |
|
Chondrocalcinosis, Inguinal hernia, Umbilical hernia, Osteoporosis, Hypopigmentation of hair, Woo... |
ORPHA:565 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... |
OMIM:300908 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Hyperphenylalaninemia |
ORPHA:79254 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Small for gestational age, Inguinal hernia, Generalized hypopigmentatio... |
ORPHA:84064 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of ha... |
ORPHA:398079 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... |
ORPHA:3440 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... |
ORPHA:999 |
Oculocutaneous Albinism Type 1A |
|
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... |
ORPHA:79431 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
Prader-Willi Syndrome |
|
Iris hypopigmentation, Generalized hypopigmentation, Failure to thrive in infancy, Osteoporosis, ... |
OMIM:176270 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of ha... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Iris hypopigmentation, Diabetes mellitus, Osteoporosis, Osteopenia, Fa... |
ORPHA:98754 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment... |
OMIM:203100 |
Hermansky-Pudlak Syndrome 1 |
|
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... |
OMIM:203300 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small for gestational age, Iris hypopigmentation, Diabetes mellitus, Osteoporosis, Osteopenia, Fa... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small for gestational age, Iris hypopigmentation, Diabetes mellitus, Osteoporosis, Osteopenia, Fa... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small for gestational age, Iris hypopigmentation, Diabetes mellitus, Osteoporosis, Osteopenia, Fa... |
ORPHA:177901 |
Carney Complex, Type 1 |
|
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions |
OMIM:160980 |
Vici Syndrome |
|
Leukopenia, Neutropenia, Albinism, Lymphopenia, Elevated circulating creatine kinase concentratio... |
OMIM:242840 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... |
ORPHA:3214 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Limitation of movement at ankles, Hypopigmentation of the skin, Hypopigmen... |
ORPHA:98794 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity |
ORPHA:411511 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... |
ORPHA:238468 |
Prader-Willi-Like Syndrome |
|
Small for gestational age, Iris hypopigmentation, Diabetes mellitus, Osteoporosis, Osteopenia, Fa... |
ORPHA:398073 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hyp... |
ORPHA:739 |
Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemia, Glycosuria, Diabetes mellitus, Failure to thrive in infancy, Pigmentar... |
OMIM:219800 |
Hermansky-Pudlak Syndrome |
|
Long eyelashes, Iris hypopigmentation, Neutropenia, Hypopigmentation of the skin, Hypopigmentatio... |
ORPHA:79430 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:98795 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormality of hair texture, Hypopigmentation of hair, Joint hyperflexibility, ... |
ORPHA:96169 |
Degcags Syndrome |
|
Abnormal spleen morphology, Abnormal eyebrow morphology, Hepatosplenomegaly, Small for gestationa... |
OMIM:619488 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Inguinal hernia, Anemia, Hypopigmentation of hair, Ocular albinism, Limita... |
ORPHA:2719 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets... |
ORPHA:3337 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Hypopigmentat... |
ORPHA:163746 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Diabetes mellitus, Hyperphosphatemia, Red hair, Hypocalcemia, Fair hair, Obesity |
ORPHA:280651 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Widow's peak, Coarse hair, Hypopigmentation of hair, Dry hair, Joint hyperflexibility |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of hair, Hy... |
ORPHA:177907 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Elevated 7-dehydrocholesterol, Abnormal dental enamel morphology, Hy... |
ORPHA:818 |