Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Cryptorchidism |
OMIM:617796 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age |
OMIM:102150 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age |
OMIM:248100 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... |
OMIM:617126 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot |
ORPHA:436151 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:607624 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Abnormal hair morphology, Long penis, Attention deficit hyperactivi... |
ORPHA:3000 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism |
DECIPHER:39 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Neuroectodermal Melanolysosomal Disease |
|
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... |
ORPHA:33445 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity |
ORPHA:71529 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... |
ORPHA:2885 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Hirsutism |
ORPHA:85288 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
Elejalde Disease |
|
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... |
OMIM:256710 |
Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Autism, Susceptibility To, 18 |
|
Overweight, Tall stature |
OMIM:615032 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Phenylketonuria |
|
Blue irides, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Hyperactivity, Attention defi... |
OMIM:261600 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... |
ORPHA:177910 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Ataxia, Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism |
OMIM:617575 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Ataxia, Iris hypopigmentation, Premature graying of... |
ORPHA:79476 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait, Hyp... |
ORPHA:411515 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Blue irides, Hyperactivity, Cryptorchidism, Fair hair, Red hair |
OMIM:614613 |
Coffin-Siris Syndrome 8 |
|
Thick eyebrow, Hyperactivity, Long eyelashes, Sparse scalp hair |
OMIM:618362 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Ataxia, White for... |
OMIM:277580 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Ataxia |
OMIM:239500 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia |
OMIM:246700 |
Chromosome Xq25 Duplication Syndrome |
|
Thick eyebrow, Hyperactivity, Sparse eyebrow, Highly arched eyebrow |
OMIM:300979 |
Ataxia-Telangiectasia |
|
Gait disturbance, Polycystic ovaries, Ataxia, Abnormal testis morphology, Multiple cafe-au-lait s... |
ORPHA:100 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... |
ORPHA:64753 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Frontal upsweep of hair, Hyperactivity, Ataxia |
OMIM:300983 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Lethargy |
OMIM:605899 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia |
ORPHA:79320 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Hypoalbuminemia |
OMIM:608104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Hirsutism |
OMIM:300434 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, Ataxia, White fore... |
ORPHA:2884 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Sparse eyebrow, Highly arched eyebrow |
ORPHA:521258 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, H... |
ORPHA:247585 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Micropenis, Cryptorchidism |
OMIM:618504 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Cryptorchidism, Synophrys |
OMIM:615824 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Squalene Synthase Deficiency |
|
Hypospadias, Hypocholesterolemia, Increased circulating farnesol concentration, Bilateral cryptor... |
OMIM:618156 |
Mental Retardation, Autosomal Recessive 61 |
|
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:617773 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hyperactivity, Precocious puberty, Broad-based gait |
ORPHA:457260 |
Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Synophrys |
OMIM:615541 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Ataxia, Inability to walk, Generalized dystonia, Hypopig... |
ORPHA:70472 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Small nail, Broad-based gait |
OMIM:619470 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71526 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:600351 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Macroorchidism, Synophrys |
OMIM:300143 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Hyperactivity, Ataxia, Generalized hirsutism, Cryptorchidism, Hypoplasia o... |
ORPHA:228402 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Piebald Trait With Neurologic Defects |
|
White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Ovarian neoplasm, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation... |
ORPHA:2221 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... |
ORPHA:88618 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Gand Syndrome |
|
Hyperactivity, Sparse hair |
OMIM:615074 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low anterior hairline, Coarse hair, Long eyelashes, Inability to walk, Hypoalbuminemia... |
OMIM:617303 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Cryptorchidism, Highly arched eyebrow |
ORPHA:352490 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia |
OMIM:612716 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Highly arched eyebrow |
OMIM:618342 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
Classic Phenylketonuria |
|
Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of the skin,... |
ORPHA:79254 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Fragile X Syndrome |
|
Hyperactivity, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hypospadias, Abnormality of iron homeostasis, Fine hair, Brittle hair, Tric... |
OMIM:222470 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Long eyelashes, Hirsutism |
OMIM:613684 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Macroorchidism, Broad-based gait |
ORPHA:3077 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Joubert Syndrome 32 |
|
Large for gestational age, Tall stature |
OMIM:617757 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... |
ORPHA:3440 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Coffin-Siris Syndrome 7 |
|
Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Sparse scalp hair |
OMIM:618027 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Hypertriglyceridemia, Generalized hirsutism, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Hypogonadism, Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Decreased test... |
OMIM:300354 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Hyperactivity, Micropenis, Cr... |
ORPHA:8 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hypogonadism, Hyperactivity, Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Synophrys |
ORPHA:3306 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Cryptorchidism |
OMIM:618183 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Neonatal hyperbilirubinemia, Hypogonadism, Hyperactivity, Low posterior ha... |
ORPHA:73272 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:614294 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Cryptorchidism, Hirsutism, Hypoalbuminemia |
OMIM:235510 |
Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Blue irides, White eyelashes, Hypogonadism, Heterochromia iridis, Whi... |
OMIM:613266 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Ataxia, Increased circulating ferritin ... |
OMIM:603553 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Griscelli Syndrome Type 2 |
|
Partial albinism, Hyperlipidemia, Iris hypopigmentation, Hypopigmentation of hair, Premature gray... |
ORPHA:79477 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Thick eyebrow, Broad-based gait |
OMIM:617865 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity |
OMIM:610628 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature pubarche, Hypogonadotropic hypogonadism, External genital hyp... |
ORPHA:398079 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity, Synophrys |
OMIM:613192 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Ataxia, Premature ovarian insufficiency, Hypergonadotropic ... |
OMIM:212065 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Chromosome 10Q26 Deletion Syndrome |
|
Small nail, Hyperactivity, Micropenis, Broad-based gait, Low posterior hairline, Cryptorchidism |
OMIM:609625 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Dysmetria, Steppage... |
ORPHA:14 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Gait disturbance, Hypopigmented skin patches, Hyperactivity, Curly hair, Cryptorchid... |
ORPHA:457485 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Cryptorchidism, Unsteady gait |
ORPHA:485350 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Difficulty walking |
ORPHA:1667 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Aicardi-Goutieres Syndrome 9 |
|
Dystonia, Micropenis, Hypoalbuminemia |
OMIM:619487 |
Insulin-Resistance Syndrome Type B |
|
Hirsutism, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentratio... |
ORPHA:2298 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia |
OMIM:271980 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Generalized reticulate brown pigmentation, Depigmentation/hyperpigmentation of skin, Hyperpigment... |
ORPHA:79396 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Macroorchidism |
ORPHA:85327 |
Alg12-Cdg |
|
Hypospadias, Hyponatremia, Small nail, Hypocholesterolemia, Micropenis, Hypoalbuminemia, Low post... |
ORPHA:79324 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Blue irides |
OMIM:615516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Precocious puberty, Broad-based gait |
OMIM:300958 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Mend Syndrome |
|
Hyperactivity, Cryptorchidism |
OMIM:300960 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Coarse hair, Hirsutism, Synophrys |
OMIM:252900 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Absent toenail, Decreased serum iron, Abnormal circulating selenium concent... |
ORPHA:89842 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... |
OMIM:615673 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Hypopigmentation of the skin, Iris hypopigmentation, Broad-based gait, Hypopigmen... |
ORPHA:98795 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Hypopigmentation of the skin, Ataxia, Hyperactivity, Iris hypopigmentation, Broad... |
ORPHA:98794 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Overgrowth, Small for gestational age, Large for gestational age |
ORPHA:254534 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-based gait, Hy... |
ORPHA:411511 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Gait disturbance, Freckling, Hyperpigmentation of the skin, Iris hypo... |
ORPHA:3214 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigment... |
OMIM:176270 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Macrocephaly/Autism Syndrome |
|
Obesity |
OMIM:605309 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Myoclonic-Astatic Epilepsy |
|
Frontal balding, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder |
ORPHA:1942 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Hyperlipidemia, Hyperactivity, Generalized hirsutism, Cryptorchidism, Precocious pub... |
ORPHA:254346 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Hypertrichosis, Long eyelashes, Inability to walk, Thick hai... |
ORPHA:505248 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low anterior hairline, Horizontal eyebrow, Hyperactivity, Ataxia, Cryptorchidism, Frontal upsweep... |
ORPHA:369891 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Lethargy, Small scrotum, External genital hypoplasia, Hypopigmentation ... |
ORPHA:398069 |
Galloway-Mowat Syndrome 1 |
|
Dystonia, Small nail, Hypopigmentation of the skin, Ataxia, Hypoalbuminemia |
OMIM:251300 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Synophrys |
ORPHA:391307 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Coarse hair, Hirsutism, Synophrys |
OMIM:252920 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Hypoplastic labia majora, Small scrotum, External genital hypoplasia, H... |
ORPHA:739 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Onycholysis |
OMIM:275000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Nail dystrophy, Alopecia, Hypocalcemia, Hypomagnesemia, Hypoalbuminem... |
ORPHA:37042 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hypoplastic nipples, Hyperactivity, Cryptorchidism, Hypermelanotic macule, Cafe-au-lait spot |
OMIM:618505 |
Cri-Du-Chat Syndrome |
|
Hypospadias, Hyperactivity, Cryptorchidism, Difficulty walking, Premature graying of hair |
OMIM:123450 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Patchy alopecia, Shuffling gait, Hyperactivity, Micropenis, Thick eyebrow, Cryptorchidism, Decrea... |
OMIM:300534 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia |
OMIM:618314 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Micropenis, Cryptorchidism, Gait ataxia, Microphallus |
OMIM:300486 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Floating-Harbor Syndrome |
|
Hypospadias, Hirsutism, Congenital posterior urethral valve, Low posterior hairline, Long eyelash... |
OMIM:136140 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Conjugated hyperbilirubi... |
ORPHA:186 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia |
ORPHA:52503 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Obesity |
ORPHA:34527 |
Carney Complex, Type 1 |
|
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair |
OMIM:160980 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Obesity |
OMIM:600122 |
X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal hair pattern, Hypogonadism, Hyperactivity, Broad-based gait, Hypoplasia of penis, Decrea... |
ORPHA:85293 |
Mucopolysaccharidosis, Type Iiid |
|
Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Synophrys |
OMIM:252940 |
16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Thick eyebrow, Bilateral cryptorchidism |
ORPHA:485405 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... |
ORPHA:98754 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Angelman Syndrome |
|
Blue irides, Progressive gait ataxia, Hypopigmentation of the skin, Hyperactivity, Broad-based ga... |
OMIM:105830 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... |
ORPHA:98793 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Coarse hair, Hirsutism, Synophrys |
OMIM:252930 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Hyperactivity, Micropenis, Cryptorchidism, Shawl scrotum |
OMIM:617516 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Blue irides, Hypogonadism, Hyperactivity, Hypocalcemia, Cryptorchidism, Hyperphospha... |
ORPHA:280651 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Cryptorchidism |
ORPHA:412035 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... |
ORPHA:177904 |
Wilson Disease |
|
Failure to thrive, Weight loss, Increased body weight |
ORPHA:905 |
Bone Marrow Failure Syndrome 3 |
|
Small nail, Abnormality of skin pigmentation, Nail dystrophy, Hyperactivity, Aplasia/Hypoplasia o... |
OMIM:617052 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... |
ORPHA:177901 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Elevated circulating creatinine concentration, Hyperuricemia, ... |
OMIM:137920 |
Legius Syndrome |
|
Dystonia, Ovarian neoplasm, Male urethral meatus stenosis, Hyperactivity, Axillary freckling, Ing... |
ORPHA:137605 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hypospadias, Hyperactivity, Fine hair |
ORPHA:363686 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... |
ORPHA:139396 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Obesity |
OMIM:194072 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Hyperactivity, Curly hair, Mult... |
OMIM:607721 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Athetosis, Ocular albinism, Ataxia, Iris hypopigmentation, Cryptorchidism, Hypopigmentation of hair |
ORPHA:2719 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age |
ORPHA:263455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Ataxia, Iris h... |
OMIM:214500 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Gait disturbance, Highly arched eyebrow, Hyperactivity, Micropenis, Cryptorchidism, ... |
ORPHA:363528 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Ataxia, Spar... |
ORPHA:3322 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Hypogonadotropic hypogonadism, External genital hypoplasia, Small scrot... |
ORPHA:398073 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:99826 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Hypogonadism, Ataxia, Heterochromia irid... |
ORPHA:163746 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Fine hair, Sparse eyelashes, Onycholysis, Nail dystrophy, Sparse scalp hair, Hypoalbuminemia, Spa... |
OMIM:614748 |
Chédiak-Higashi Syndrome |
|
Gait disturbance, Hyponatremia, Hypoproteinemia, Abnormality of retinal pigmentation, Hypopigment... |
ORPHA:167 |
Galloway-Mowat Syndrome 3 |
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Hypoalbuminemia |
OMIM:617729 |
Koolen-De Vries Syndrome |
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Hypospadias, Cryptorchidism, Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Insulinoma |
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Increased body weight |
ORPHA:97279 |
Juvenile Polyposis Of Infancy |
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Freckled genitalia, Hypoalbuminemia |
ORPHA:79076 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Hypospadias, Bifid scrotum, Hyperactivity, Penoscrotal transposition, Cryptorchidism, Cafe-au-lai... |
OMIM:619148 |
Angelman Syndrome |
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Precocious puberty in females, Hypopigmentation of the skin, Hyperactivity, Inability to walk, At... |
ORPHA:72 |
Glass Syndrome |
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Nail dysplasia, Hyperactivity, Sparse hair, Broad-based gait |
OMIM:612313 |
Von Hippel-Lindau Syndrome |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Decreased prealbumin level, Hypocholesterolemia, H... |
ORPHA:90363 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Obesity |
OMIM:618620 |
Hypohidrotic Ectodermal Dysplasia |
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Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... |
ORPHA:238468 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Large for gestational age |
OMIM:616026 |
Juvenile Polyposis Syndrome |
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Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Coffin-Siris Syndrome |
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Hypospadias, Small nail, Hirsutism, Hypertrichosis, Hypoplastic fifth toenail, Prominent eyelashe... |
ORPHA:1465 |
Seckel Syndrome 1 |
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Hypospadias, Hyperactivity, Cryptorchidism, Clitoral hypertrophy |
OMIM:210600 |
Vici Syndrome |
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Ocular albinism, Albinism, Hypopigmentation of the skin, Penile hypospadias, Hypopigmentation of ... |
OMIM:242840 |
Spastic Paraplegia 29, Autosomal Dominant |
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Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
Brittle Cornea Syndrome 1 |
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Red hair |
OMIM:229200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Hyperactivity, Nail dystrophy, Nail dysplasia, Sparse scalp hair |
OMIM:256800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Small scrotum, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Hepatocellular Carcinoma |
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Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:88673 |
Histidinemia |
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Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Coarse hair, Shawl scrotum, Widow's peak |
ORPHA:1974 |
Prader-Willi Syndrome Due To Translocation |
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Stellate iris, Hypogonadotropic hypogonadism, External genital hypoplasia, Hyperpigmentation of t... |
ORPHA:177907 |
7Q11.23 Microduplication Syndrome |
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Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Dysmetri... |
ORPHA:96121 |
Floating-Harbor Syndrome |
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Hypospadias, Congenital posterior urethral valve, Varicocele, Broad-based gait, Cryptorchidism, E... |
ORPHA:2044 |
Low Phospholipid-Associated Cholelithiasis |
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Obesity, Overweight |
ORPHA:69663 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Hyperactivity, Ataxia |
ORPHA:760 |
Syndromic Diarrhea |
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Abnormality of iron homeostasis, Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair... |
ORPHA:84064 |
Hyperlysinemia |
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Hypoornithinemia, Thin eyebrow, Dysmetria, Hyperammonemia, Hyperactivity, Tip-toe gait, Hyperlysi... |
ORPHA:2203 |
Brittle Cornea Syndrome |
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Gait disturbance, Abnormality of hair pigmentation |
ORPHA:90354 |
Mody |
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Obesity, Large for gestational age, Overweight |
ORPHA:552 |
Adrenocortical Carcinoma |
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Weight loss, Increased body weight |
ORPHA:1501 |
Hallermann-Streiff Syndrome |
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Fine hair, Sparse eyelashes, Sparse scalp hair, Hyperactivity, Sparse and thin eyebrow, Cryptorch... |
OMIM:234100 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Increased body weight |
ORPHA:189427 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia |
OMIM:610042 |
Degcags Syndrome |
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Hypospadias, Hypertrichosis, Low anterior hairline, Chordee, Abnormality of skin pigmentation, Lo... |
OMIM:619488 |
Dubowitz Syndrome |
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Hypospadias, Sparse lateral eyebrow, Hyperactivity, Sparse scalp hair, Cryptorchidism |
OMIM:223370 |
Hermansky-Pudlak Syndrome |
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Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... |
ORPHA:79430 |
Brain-Lung-Thyroid Syndrome |
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Hypospadias, Dystonia, Falls, Hyperactivity, Ataxia |
ORPHA:209905 |
Primary Sclerosing Cholangitis |
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Hypoalbuminemia |
ORPHA:171 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Increased body weight |
ORPHA:264580 |
Argininemia |
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Hyperargininemia, Hyperactivity, Spastic gait, Hyperammonemia |
OMIM:207800 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Elevated 7-dehydrocholesterol, Hypopigmentation of hair, Clitoral hypertrophy, Ambig... |
ORPHA:818 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Pigmentary retinopathy, Hyperpigmentation of the skin, Bradykinesia, ... |
OMIM:234200 |
Primary Pigmented Nodular Adrenocortical Disease |
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Abdominal obesity, Increased body weight |
ORPHA:189439 |
Mend Syndrome |
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Spotty hypopigmentation, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Hyperactivity,... |
ORPHA:401973 |
Distal Trisomy 17Q |
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Hyperactivity, Cryptorchidism, Low posterior hairline |
ORPHA:3379 |
Von Hippel-Lindau Disease |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Joubert Syndrome 39 |
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Overweight |
OMIM:619562 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Increased body weight |
ORPHA:79240 |
Nijmegen Breakage Syndrome |
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Hyperactivity, Progressive vitiligo, Premature ovarian insufficiency, Cafe-au-lait spot |
OMIM:251260 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Aplasia of the uterus, Aplasia of the vagina, Abnormal hair whorl |
ORPHA:457284 |
Cystinosis, Nephropathic |
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Hyponatremia, Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of ... |
OMIM:219800 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Bifid scrotum, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hyperactivity, Bi... |
OMIM:270400 |
Witteveen-Kolk Syndrome |
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Hypospadias, Fine hair, Hyperactivity, Micropenis, Cryptorchidism, High anterior hairline, Attent... |
OMIM:613406 |
Immunodeficiency 82 With Systemic Inflammation |
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Anoperineal fistula, Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoal... |
OMIM:619381 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... |
OMIM:619534 |
Early Infantile Epileptic Encephalopathy |
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Dystonia, Absent thumbnail, Hyperactivity, Micropenis, Episodic ataxia, Precocious puberty |
ORPHA:1934 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Menkes Disease |
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Hypopigmentation of hair, Sparse hair, Woolly hair |
ORPHA:565 |
Rubinstein-Taybi Syndrome 1 |
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Hypospadias, Highly arched eyebrow, Hirsutism, Bifid uterus, Low anterior hairline, Long eyelashe... |
OMIM:180849 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity |
ORPHA:424 |
Tropical Endomyocardial Fibrosis |
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Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Ataxia, Aplasia of the ovary, Reduced thyroxin-binding globulin, H... |
ORPHA:79318 |
Cushing Disease |
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Increased body weight, Truncal obesity, Abdominal obesity |
ORPHA:96253 |
Choreoacanthocytosis |
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Lingual dystonia, Loss of ambulation, Elevated circulating creatine kinase concentration, Oromand... |
ORPHA:2388 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Weight loss, Increased body weight, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |