| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... |
OMIM:613291 |
| Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased... |
OMIM:246700 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Po... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Po... |
ORPHA:71526 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Aggressive behavior, Hyperlipidemia, Obesity, Polyphagia |
ORPHA:329249 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-losing enteropathy,... |
OMIM:615863 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Abnormal odontoid tissue mor... |
ORPHA:401911 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
| Obesity And Hypopigmentation |
|
Red hair, Polyphagia, Obesity |
OMIM:620195 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Short stature, Generali... |
OMIM:612526 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption, Failure t... |
ORPHA:71 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Polyphagia, Obesity, Short stature |
ORPHA:177910 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Acholic stools, Hypocholesterolemia, Fat ma... |
OMIM:607765 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, G... |
ORPHA:228402 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Weight loss, Vom... |
OMIM:212750 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Short stature, Steatorrhea |
OMIM:618752 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Hypoalbuminemia, Vomiting, Protein-losing enteropathy, Steatorrhea, Fa... |
OMIM:602579 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Polyphagia, Obesity |
OMIM:617885 |
| 14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Po... |
ORPHA:261229 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur... |
OMIM:606242 |
| Wolman Disease |
|
Growth delay, Esophageal varix, Cachexia, Steatorrhea |
ORPHA:75233 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, Esophageal varix, Increa... |
OMIM:278000 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Short stature, Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bi... |
OMIM:619868 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Short stature, Impulsivity, Flexion contracture, Obesity, Gastroeso... |
OMIM:615547 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Failure to thrive, Steatorrhea |
OMIM:612714 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia, Red hair, Polyphagia |
OMIM:609734 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Postnatal growth retardation, Abnormal serum bile acid concentrati... |
ORPHA:79303 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Hypotonia-Cystinuria Syndrome |
|
Growth delay, Failure to thrive, Polyphagia |
ORPHA:163690 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Polyphagia, Bifi... |
ORPHA:254516 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| 6Q16 Microdeletion Syndrome |
|
Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed... |
OMIM:275400 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... |
ORPHA:1818 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Short stature, Synophrys, Velopharyngeal insufficiency, Self... |
OMIM:182290 |
| Bile Acid Synthesis Defect, Congenital, 6 |
|
Hypolipidemia, Steatorrhea |
OMIM:617308 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Lipoatrophy, Intestinal malrotation, Short stature, Sparse hair |
ORPHA:2301 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Obesity Due To Sim1 Deficiency |
|
Short stature, Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Leptin Receptor Deficiency |
|
Short stature, Abnormal eating behavior, Aggressive behavior, Obesity, Delayed puberty, Polyphagia |
OMIM:614963 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea, Decreased circulating chenodeoxycholic acid concentration |
OMIM:619481 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Polyphagia, In... |
ORPHA:276556 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Severe short stature, Camptodactyly of finger, Malabso... |
ORPHA:2176 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Long eyelashes, Hypocalcemia, Failure to thrive, Polyphagia |
OMIM:606407 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ... |
OMIM:616222 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair, Neonatal hyperbil... |
ORPHA:3363 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Polyphagia, In... |
ORPHA:276575 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Chronic diarrhea, Macroglossia, Coarse hair, Distal arthrogryposis, Long e... |
OMIM:618268 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Sparse body hair, Obesity |
ORPHA:85274 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Truncal obesity, Intrauterine growth retardation, Failure to thrive, Sparse body hair |
ORPHA:261483 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Onycholysis, Polyphagia, Weight loss |
OMIM:275000 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Anorexia, Cachexia, Hypoplastic t... |
ORPHA:2930 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Acholic stools, Hyperbilirubinemia, Steatorrhea, Failure to thrive |
OMIM:613812 |
| Hawkinsinuria |
|
Sparse hair, Abnormal circulating tyrosine concentration, Failure to thrive, Fine hair |
ORPHA:2118 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Short stature, Flexion contracture, Severe postnatal growth retardation, Steator... |
ORPHA:440713 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Hypercholesterolemia, Adipose tissue loss, Low anterior hair... |
ORPHA:528 |
| Trisomy 18P |
|
Short stature, Highly arched eyebrow, High, narrow palate, Pyloric stenosis, Attention deficit hy... |
ORPHA:1715 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Diarrhea, Hy... |
OMIM:212065 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, High palate, Polyphagia, Thick eyebrow |
OMIM:618774 |
| Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... |
ORPHA:397941 |
| Luscan-Lumish Syndrome |
|
Short stature, Aggressive behavior, Obesity, High anterior hairline, Polyphagia, Hirsutism |
OMIM:616831 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight |
OMIM:618724 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Small for gestational age, Steatorrhea |
OMIM:615935 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Agitation, Polyphagia, Increased C-peptide level |
ORPHA:276580 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Thick hair, Growth delay, Intermittent diarrhea, Hypercholesterolem... |
ORPHA:263501 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onych... |
ORPHA:2251 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Postnatal growth retardation, Obesity, High palate, Hypercholesterolemia, Intrauterine growth ret... |
ORPHA:254531 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Short stature, Abnormal hair morp... |
ORPHA:2963 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Small for gestational age, Sparse axillary hair, Short stature, Congenital ge... |
OMIM:608154 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Postnatal growth retardation, Pyloric stenosis, Obesity... |
ORPHA:96184 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Fair hair, Aggressive behavior, Protrud... |
ORPHA:72 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... |
ORPHA:97283 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Diarrhea, Hyperkalemia, Esophageal varix, Weight lo... |
ORPHA:275761 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, ... |
OMIM:557000 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Chronic diarrhea, Decreased LDL chole... |
ORPHA:14 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Polyphagia, Obesity |
ORPHA:66628 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... |
ORPHA:79133 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
| Shwachman-Diamond Syndrome 2 |
|
Short stature, Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:617941 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Polyphagia, Obesity |
ORPHA:179494 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... |
ORPHA:97280 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Hirsutism, Obesity |
ORPHA:77296 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia |
OMIM:227260 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, Low post... |
OMIM:156200 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Short stature, Thick hair, Highly arched eyebrow, Overweight, Hypercholesterolemia |
ORPHA:401923 |
| Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Short stature, Steatorrhea, Failure to thrive, Exocrine pancreatic ins... |
OMIM:260400 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Inguinal hernia, Fine hair |
ORPHA:1174 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypoplasia, Anon... |
ORPHA:79402 |
| Fg Syndrome 3 |
|
Hyperactivity, Pyloric stenosis, Fine hair, Chronic constipation, Frontal upsweep of hair, Sparse... |
OMIM:300406 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Short stature, Postnatal growth retardation, Achilles tendon contracture, Steatorrhea, Failure to... |
OMIM:616263 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Gand Syndrome |
|
Sparse hair, Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Synophrys, Obesity, Cleft pala... |
ORPHA:819 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impulsivity, Flexion contracture, Xerostomia, Increased ... |
ORPHA:398069 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, High, narrow palate, Obesity, Low posterio... |
ORPHA:2183 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Exocrine pancreatic insufficiency, Alopecia, Steatorrhea |
OMIM:269200 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Failure to thrive, Small for gestational age, Gastroparesis, Short stat... |
ORPHA:98793 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Short stature, Pos... |
OMIM:611091 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Failure to thrive, Small for gestational age, Gastroparesis, Short stat... |
ORPHA:177904 |
| Filippi Syndrome |
|
Postnatal growth retardation, Decreased body weight, Sparse hair, Intrauterine growth retardation... |
OMIM:272440 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Failure to thrive, Small for gestational age, Gastroparesis, Short stat... |
ORPHA:177901 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Small for gestational age, Gastroparesis, Short stature, Bulimia, Obesi... |
ORPHA:98754 |
| Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Postnatal growth retardation, Cleft palate, Fine hair, High pa... |
ORPHA:251028 |
| Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia... |
ORPHA:404448 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hypoplasia ... |
ORPHA:261304 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Sparse body hair, ... |
ORPHA:2850 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Xerostomia, Obesity, Abdominal obesity, Skin-picking, Abnormal temper t... |
ORPHA:398079 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Laron Syndrome |
|
Hypercholesterolemia, Severe short stature, Truncal obesity, Delayed puberty |
ORPHA:633 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... |
ORPHA:2890 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Diarrhea, Intrauterine growth retardation, Polydipsia, Failure to thrive, Polyphagia |
ORPHA:525731 |
| Galactokinase Deficiency |
|
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... |
ORPHA:79237 |
| Insulinoma |
|
Zollinger-Ellison syndrome, Polyphagia, Increased body weight |
ORPHA:97279 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature, Ankle flexion contracture |
OMIM:619985 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea ni... |
ORPHA:251004 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Pearson Syndrome |
|
Median cleft lip and palate, Small for gestational age, Postnatal growth retardation, Chronic dia... |
ORPHA:699 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Short stature, Hypoamylasemia, Growth delay, Increased... |
ORPHA:811 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Umbilical hernia, Constipation, High, narrow palate |
OMIM:273390 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age, Short stature, Ma... |
OMIM:601675 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:608594 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Aggressive behavior, Cleft palate, Fine hair, Growth delay, High palate, Attention... |
ORPHA:251019 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Flexion contracture, High palate, Dysphagia, Sparse hair, Failure to thrive |
OMIM:620001 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hi... |
ORPHA:3051 |
| Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Failure to ... |
ORPHA:586 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Anauxetic Dysplasia 2 |
|
Short stature, Flexion contracture, Macroglossia, Nail dysplasia, Small nail, Sparse hair, Intrau... |
OMIM:617396 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Ag... |
ORPHA:96121 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Abnormal hair... |
ORPHA:2872 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Obesity, Self-injurious be... |
OMIM:176270 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Truncal obesity, High palate, Attention deficit h... |
ORPHA:284180 |
| Alopecia Antibody Deficiency |
|
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
| Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Steatorrhea, Failure to thrive, Exocrine pancre... |
OMIM:219700 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Thin nail, Fine hair, Camptodactyly, Sparse hair, Umbilical hern... |
OMIM:277590 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Sapho Syndrome |
|
Malabsorption, Chronic diarrhea, Enthesitis, Inflammation of the large intestine, Steatorrhea |
ORPHA:793 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal... |
OMIM:301029 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Gastroparesis, Short stature, Xerostomia, Abdominal obesity, Vomiting, ... |
ORPHA:739 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Neuhauser Syndrome |
|
Short stature, Low anterior hairline, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
| Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Short stature, Hepatocellular carcinoma, Elbow flexion contracture, Premature gray... |
OMIM:616200 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Premature graying of hair, S... |
ORPHA:363618 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Abdominal obesity, Intrauterine growth retardation, Spa... |
OMIM:300869 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Diarrhea... |
ORPHA:264580 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Short stature, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornith... |
OMIM:219150 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th f... |
ORPHA:1883 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Small for gestational age, Proportionate short stature, Synophrys, Low ant... |
ORPHA:391408 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Tetrasomy 12P |
|
Short stature, Cachexia, Sparse eyebrow, Abnormal soft palate morphology, Sparse hair, Anal atresia |
ORPHA:884 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata... |
ORPHA:79240 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Chronic diarrhea, Reduced hair su... |
OMIM:300953 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive, Oral l... |
OMIM:616353 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hyperammonemia, Dysphagia, Sparse hair, Intrauterine growth retardation |
OMIM:618253 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Hawkinsinuria |
|
Sparse hair, Restlessness, Failure to thrive, Hypertyrosinemia |
OMIM:140350 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Camptodactyly of finger, Growth delay, Sparse hair, Intrauterine growt... |
OMIM:610756 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, High, narrow palate, Chronic diarrh... |
OMIM:615873 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Steatorrhea |
OMIM:167800 |
| Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, High palate, Sparse hair, Anal atresia |
OMIM:616854 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Low posterior hairline, Self-injurious behavior, High palate, Compulsi... |
OMIM:613174 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair |
ORPHA:1839 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair, ... |
OMIM:616817 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Desbuquois Syndrome |
|
Severe short stature, Camptodactyly of finger, Abnormal eyelash morphology, Disproportionate shor... |
ORPHA:1425 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia |
OMIM:119580 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Growth delay, Nail dys... |
OMIM:234050 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Sparse hair, Fail... |
ORPHA:2316 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Decreased circulating ceruloplasmin concentration, Sparse ... |
OMIM:309400 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Low anterior hairline, Narrow palate, Long eyelashes, Sparse hair, Failure to thrive |
OMIM:617883 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Conjugated hyperbilirubinemia, Diarrhea, Hepatocellular carcinoma, Fat malabsorpti... |
OMIM:601847 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Intrauterine growth reta... |
ORPHA:1133 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Sparse hair, Abnor... |
ORPHA:1515 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Short stature, Aggressive behavior, Celiac disease, Hyperlipidemia, Gastrointestina... |
ORPHA:293987 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Sparse body hair, Obesity |
ORPHA:2234 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypercholesterolemia, Growth delay, Macroglossia, Constipation, Attention defi... |
ORPHA:90674 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Aggressive behavior, Synophrys, Low posterior hairline, Attention deficit hyperactivity disorder,... |
OMIM:619320 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel ... |
ORPHA:79444 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Chronic diarrhea, Growth delay, Inflammation of the large intestine, Nail dystrophy, Sparse hair,... |
ORPHA:98813 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Hyperconvex nail, Chronic constipation, Gastroesophageal reflux, Sparse hair, Fail... |
OMIM:619721 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Thick hair, Short stature, Postnatal growth retardation, Abnormal... |
ORPHA:357074 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Short stature, Sparse eye... |
OMIM:613026 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Fine hair, Growth delay, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:217346 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail |
OMIM:610644 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Velopha... |
OMIM:129400 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Short stature, High palate, Cleft palate |
OMIM:618348 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Short stature, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse... |
ORPHA:1787 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Pyloric stenosis, Polyphagia... |
ORPHA:1606 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Camptodactyly, Sparse hair, Ename... |
OMIM:619980 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Hyperactivity, Aggressive behavior, Sparse eyebrow, Synophrys, Self-injurious behavio... |
OMIM:620075 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Flexion con... |
OMIM:618891 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Sparse eyelashes, Sparse facial hair, Aganglionic megacolon, Malabsorption, Sparse... |
OMIM:250250 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate, Abnormal repetitive mannerisms, Short stature |
ORPHA:2479 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
| Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Addictive alcohol use, Vomiting, Nausea |
ORPHA:90065 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Growth delay, Hypoalbuminemia, Hyperna... |
OMIM:615508 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Short stature, Aggressive behavior, Protruding tongue, Postnatal growth retardatio... |
OMIM:212066 |
| White-Sutton Syndrome |
|
Hyperactivity, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Clef... |
OMIM:616364 |
| Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Severe short stature... |
ORPHA:3163 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Postnata... |
ORPHA:96180 |
| Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Failure to thrive, Intestinal malrotation, Highly arched eyebrow, Supernumerary ni... |
OMIM:615485 |
| Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Obesity, Growth delay, Delayed puberty... |
ORPHA:54595 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Short stature, Conjugated hyperbilirubinemia, Diarrhea, Fat malabsorption, Failure to thrive |
OMIM:211600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Obesity, Neoplasm of the liver, Hepatocellular carcinoma, Hypercholesterolemia |
ORPHA:69663 |
| Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair |
OMIM:613224 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel ... |
ORPHA:79443 |
| Joubert Syndrome 37 |
|
Sparse hair, High palate, Obesity, Short stature |
OMIM:619185 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive mannerisms, Hyp... |
ORPHA:534 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Furrowed tongue, Nail dystrophy, Sparse hair, Abnormal toen... |
ORPHA:140936 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Small for gestational age, Short stature, Fine hair, B... |
OMIM:222470 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Elevated 8-dehydrocho... |
OMIM:302960 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Truncal obesity, Sparse hair, Camptodactyly of toe, Thick eyebrow |
ORPHA:127 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Bilateral cleft li... |
ORPHA:3253 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Short stature, Sparse eyebrow, Leukonychia, High palat... |
ORPHA:77258 |
| Glass Syndrome |
|
Restlessness, Hyperactivity, Inguinal hernia, Short stature, Aggressive behavior, Cleft palate, L... |
OMIM:612313 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Short stature, Hyperlipidemia, Diarrhea, Enterocolitis, Hepatocellular aden... |
ORPHA:79259 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| X-Linked Acrogigantism |
|
Increased body mass index, Polyphagia, Delayed puberty |
ORPHA:300373 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Short stature, Concave nail, Leukonychia, Fine hair, Narrow palate,... |
OMIM:190350 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, Fat malabsorption, Fai... |
OMIM:214950 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... |
OMIM:614594 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
| Macs Syndrome |
|
Alopecia, Short stature, Sparse eyebrow, High palate, Recurrent aphthous stomatitis, Decreased bo... |
OMIM:613075 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Abnormal dental enamel morphology, Moderate postnatal growth reta... |
ORPHA:1005 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine k... |
OMIM:309000 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis |
OMIM:619208 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormality of the hairline, Camptodactyly of finger, Aggressive behavior, Synophrys, Submucous c... |
OMIM:607872 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy |
ORPHA:100976 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fin... |
ORPHA:974 |
| Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Anal stenosis, Intestinal malrotation, Short statur... |
OMIM:305450 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Short stature, Exocrine pancreatic insufficiency, Nail dystrophy, Hernia, Small na... |
OMIM:617052 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Overweight, Obesity, Hyperproteinemia, Increased circulating ... |
ORPHA:90041 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, High palate, Methylmalonic acidemia |
OMIM:614105 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Intestinal malrotation, Gastrointestinal atresia, Bloody diarrhea, I... |
ORPHA:436252 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Failure to thrive, Short stature, A... |
OMIM:601358 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Scarring, Supernumerary nipple, Nail pits, Fine hair, Coars... |
OMIM:308300 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature |
OMIM:617763 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
| Lamellar Ichthyosis |
|
Sparse hair, Short stature, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Elevated circulating C-reactive protein concentration, Nail dystro... |
OMIM:615934 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Hyperactivity, Sparse scalp hair, Inguinal hernia, Short stature, Large for gestation... |
OMIM:607721 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Sparse hair, Umbi... |
ORPHA:870 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Small for gestational age, Short stature, Growth delay, Severe intrauterine growth re... |
OMIM:614114 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
| Scarf Syndrome |
|
Inguinal hernia, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair... |
ORPHA:3134 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Brittle hair, Slow-growing hair, Failure to thrive in ... |
ORPHA:1340 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Fine hair, Spa... |
OMIM:614438 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Short stature, Cleft palate, Atrophic scars, Decreased body weight, Sparse hair, Joint contracture |
OMIM:615349 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Short stature |
OMIM:268020 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Tongue thrusting,... |
OMIM:115150 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Intestinal malrotation, Sparse eyebrow, High palate, Constipation, Hypocholesterol... |
OMIM:244450 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Intestinal ble... |
OMIM:612199 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Cleft palate, Fine hair, High palate, Nail dysplasia, Sparse hair, Ap... |
OMIM:614091 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic diarrhea, Furrowed tongue, Melena, Coarse hair, Nail dystrophy, Nail dysplasia,... |
OMIM:158310 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Short s... |
OMIM:268400 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... |
OMIM:300972 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Thin nail, Short stature, Aggressive behavior, Gastrointestinal dysmot... |
OMIM:617799 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morphology, Short... |
ORPHA:221008 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Short stature, Truncal obesity, Disproportionate short-limb short stature, Spars... |
OMIM:616541 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Sparse eyelashes, Abnormal dental enamel morphology, Alopecia totalis, Small for gest... |
ORPHA:2909 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sp... |
OMIM:118650 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Short stature, Increased circulating ferritin concentration, Diarrhea, Hyperammone... |
OMIM:222700 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Short... |
ORPHA:1775 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Cleft palate, Patchy ... |
OMIM:106260 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Enamel hypoplasia |
OMIM:607626 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Smoot... |
OMIM:257980 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... |
OMIM:618644 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair |
ORPHA:1806 |
| De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, High palate, Sparse ... |
ORPHA:2962 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Synophrys, Gastroes... |
OMIM:300966 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Constipatio... |
OMIM:616449 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Scarring, Abnormal tongue morphology, Chronic diarrhea, Nail dystrophy, Anoperinea... |
ORPHA:158668 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Chro... |
OMIM:617506 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Proportionate shor... |
OMIM:234100 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Tracheoesophageal fistula, Sparse body hair, Short stature |
ORPHA:3068 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Small for gestational age, Rhizomelia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Fai... |
OMIM:614813 |
| Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, High, narrow palate, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Isolated Biliary Atresia |
|
Small for gestational age, Conjugated hyperbilirubinemia, Xanthelasma, Acholic stools, Severe fai... |
ORPHA:30391 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
| Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia |
OMIM:200100 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Abnormal dental enamel morphology, Alopecia totalis, Short... |
ORPHA:221016 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Steinert Myotonic Dystrophy |
|
Alopecia, Intestinal pseudo-obstruction, Aggressive behavior, Oral-pharyngeal dysphagia, Early ba... |
ORPHA:273 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Oral leukopla... |
OMIM:268130 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Chronic diarrhea, Aplasia of the sweat glands, Sparse hair, Failure to thrive,... |
OMIM:612132 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nipple, Hyperconvex nail, Spar... |
ORPHA:1071 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Intrauterine growth r... |
OMIM:613451 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... |
ORPHA:444072 |
| Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postnatal growth retardation, Knee ... |
ORPHA:477 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| Marshall Syndrome |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Cleft palate, High palate, Sparse hair |
ORPHA:560 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Growth delay, Hypoplastic nipple... |
OMIM:230740 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Scarf Syndrome |
|
Inguinal hernia, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair,... |
OMIM:312830 |
| Hamamy Syndrome |
|
Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Low posterior hairline, High palate, Sparse ha... |
OMIM:611174 |
| Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Cigarette-paper scars, Nail dystrophy, Abnormality of the nail, S... |
ORPHA:678 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Malabsorption, Atypical s... |
ORPHA:565 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Teebi-Shaltout Syndrome |
|
Slow-growing hair, Short stature, Highly arched eyebrow, High, narrow palate, Low anterior hairli... |
OMIM:272950 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal dental enamel morphology, Camptodactyly of ... |
ORPHA:2710 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Short stature, High palate, Hyperuricemia, Sparse hair |
OMIM:300661 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Sparse hair, Keloids, Joint contracture, Flexion contracture of f... |
OMIM:601812 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Sparse eyebrow, Postnatal growth re... |
OMIM:619127 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Marshall-Smith Syndrome |
|
Omphalocele, Brittle hair, Short stature, Highly arched eyebrow, Pyloric stenosis, Synophrys, Ant... |
OMIM:602535 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair |
ORPHA:50814 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Delayed puberty, Breast hypoplasia, Cleft palate, Camptodactyly, Sparse body hair |
ORPHA:432 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Failure to thrive, Exocrine... |
OMIM:118450 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Severe short stature, Small for gestational age, A... |
OMIM:133540 |
| Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Growth delay,... |
OMIM:252500 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair, Oral le... |
OMIM:127550 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Short stature, Elbow flexion contracture, Microglossia, Cleft palate, Knee flexi... |
OMIM:151050 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Rhizomelia, Malabsorption, Sparse eyebrow, Hypocalcemia, Disproportionate ... |
ORPHA:175 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cleft palate, Coarse hair, Gastroesophageal reflux, High palate, Spa... |
OMIM:607812 |
| Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, High palate, Joint contracture of the 5th finger, Attention deficit hype... |
OMIM:619934 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Hypertriglyceridemia, Lipoatrophy, Failure to thrive, Short sta... |
ORPHA:79474 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hair... |
OMIM:613563 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Stuve-Wiedemann Syndrome 1 |
|
Short stature, Elbow flexion contracture, Dysphagia, Knee flexion contracture, Smooth tongue, Cam... |
OMIM:601559 |
| Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alope... |
OMIM:181270 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Abnormal circulating corticosterone level... |
ORPHA:90796 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Encopresis, Gastroesophageal reflux, Constipation, Nail dy... |
OMIM:616682 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hyperbilirubinemia |
ORPHA:79302 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Large for gestational age, Cleft palate, Fine hair, Umbil... |
OMIM:280000 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... |
ORPHA:2232 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Absence of Stensen duct, Sparse axillary ha... |
OMIM:129900 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Cleft palate, Fine hair, High palate, Joint contracture of the 5th f... |
OMIM:164200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Short stature, Atypical scarring ... |
OMIM:216400 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... |
ORPHA:920 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow |
OMIM:609460 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Short stature, Hamartoma of tongue, Cleft palate, Tongue nodules, Lobulated t... |
OMIM:311200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Hyperlipidemia, Fine hair |
OMIM:241080 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Alopecia, Inguinal hernia, Thin fingernail, Abnormal dental enamel m... |
ORPHA:2273 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Rhizomelia, High, narrow palate, Fine ... |
OMIM:218330 |
| Neurocardiofaciodigital Syndrome |
|
Small for gestational age, Short stature, Sparse eyebrow, High palate, Sparse hair, Failure to th... |
OMIM:619869 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Agel Amyloidosis |
|
Sparse hair, Tongue atrophy, Xerostomia, Nail dystrophy |
ORPHA:85448 |
| Myhre Syndrome |
|
Small for gestational age, Short stature, Obesity, Cleft palate, Fine hair, Birth length less tha... |
OMIM:139210 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Short stature, Aplasia of the right hemidiaphragm, Highly arched eyebrow, Aggr... |
OMIM:619841 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Alström Syndrome |
|
Hypertriglyceridemia, Dorsocervical fat pad, Short stature, Frontal balding, Hyperlipidemia, Esop... |
ORPHA:64 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Lipodystrophy, Short stature, Postnatal growth retardation, High palate, High no... |
ORPHA:2834 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Abnormal dental enamel morphology, Hamartoma of tongue, Cleft palate, Lob... |
ORPHA:2750 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short stature, Rectal prolapse, Obesity, High palate, Gastroesophageal reflux, Sparse hair, Intra... |
OMIM:617157 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pyloric stenosis, Achilles te... |
OMIM:218040 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Short stature, Conjugated hyperbilirubinemia, Increased circulating ferritin con... |
OMIM:619534 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Absence of subcutaneous fat, Severe postnatal growth retardation, Sparse hair, Intrauterine growt... |
OMIM:620005 |
| Monosomy 22 |
|
Sparse hair, Contractures of the large joints, Synophrys, High palate |
ORPHA:96123 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, ... |
ORPHA:3455 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Ridged nail, Inguinal hernia, Brittle hair, Short stature, Intestinal malrotation, S... |
OMIM:305600 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Roberts Syndrome |
|
Progressive flexion contractures, Postnatal growth retardation, Cleft palate, Knee flexion contra... |
ORPHA:3103 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Short stature, Sparse eyebrow, Gastroesophageal reflux, Nail dystrophy, Hypoplasti... |
OMIM:620186 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm... |
ORPHA:581 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Cranioectodermal Dysplasia 2 |
|
Inguinal hernia, Sparse eyelashes, Short stature, Rhizomelia, Sparse eyebrow, Cleft palate, High ... |
OMIM:613610 |
| Primrose Syndrome |
|
Restlessness, Sparse scalp hair, Hip contracture, Short stature, Absent facial hair, Elevated cir... |
OMIM:259050 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Esophageal varix, Growth delay, Fa... |
ORPHA:731 |
| Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Cleft palate, High palate, Camptodactyly, Sparse hair, Joint contrac... |
OMIM:309500 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Short stature, Short nail, High palate, Sparse hair, Umbilical hernia, Failure t... |
OMIM:278250 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Anteriorly placed anus, Hypoplasti... |
OMIM:200110 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
| Restrictive Dermopathy |
|
Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse eyebrow, Aplasia/Hypopla... |
ORPHA:1662 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Inguinal hernia, Chronic gastritis, Mild postnatal growth retardation, Growth ... |
OMIM:150230 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Postnatal growth retardation, Elbow... |
OMIM:113620 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thi... |
ORPHA:2636 |
| Chime Syndrome |
|
Sparse hair, Cleft palate, Fine hair |
ORPHA:3474 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Hepatosplenomegaly, Aplasia of the uterus, Atrial septal defect, Atrio... |
OMIM:274000 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Menke-Hennekam Syndrome 1 |
|
Inguinal hernia, Flexion contracture, Cleft palate, Chronic constipation, Long eyelashes, High pa... |
OMIM:618332 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... |
OMIM:601803 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... |
ORPHA:116 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Hypoplasia of penis, Overriding aorta, Bicuspid aortic valve, Ve... |
ORPHA:904 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple... |
OMIM:619991 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Epididymitis, Cardiomegaly |
OMIM:256040 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Abn... |
OMIM:236680 |
| Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Postnatal growth retardation, Elbow flexion contracture, Cleft palate,... |
OMIM:268300 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus... |
OMIM:194190 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
