| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu... |
ORPHA:3077 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Ataxia, Gait disturbance, Fine hair |
ORPHA:1174 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow |
OMIM:606242 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Ataxia, Small for gestational age, Growth delay, Long eyelashes, Sparse hair |
ORPHA:3363 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Long eyebrows, Long eyelashes, Delayed... |
OMIM:275400 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Wide nasal bridg... |
ORPHA:2849 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Gand Syndrome |
|
Sparse hair, Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Sparse body hair, Obesity |
ORPHA:85274 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Truncal obesity, Intrauterine growth retardation, Failure to thrive, Sparse body hair |
ORPHA:261483 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteo... |
OMIM:235200 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
| Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Inappropriat... |
ORPHA:309246 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... |
ORPHA:2251 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight |
OMIM:618724 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa... |
OMIM:301029 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Joint stiffness, Splenomegaly, Cardiomegaly, He... |
OMIM:252920 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Gait ataxia, Re... |
OMIM:300953 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Short stature, Small for gestational age, Failure to thrive in in... |
OMIM:618891 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Fg Syndrome 3 |
|
Sparse hair, Hyperactivity, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Alopecia Antibody Deficiency |
|
Short stature, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of ... |
ORPHA:1006 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive |
OMIM:616353 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Filippi Syndrome |
|
Postnatal growth retardation, Decreased body weight, Sparse hair, Intrauterine growth retardation... |
OMIM:272440 |
| 2Q32Q33 Microdeletion Syndrome |
|
Short stature, Aggressive behavior, Fine hair, Growth delay, Attention deficit hyperactivity diso... |
ORPHA:251019 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair |
ORPHA:79402 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Short stature, Small for gestational age, Postnatal growth retardation, Synophr... |
OMIM:611091 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Aggressive behavior, Synophrys, Low posterior hairline, Attention deficit hyperactivity d... |
OMIM:619320 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:2850 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Hypospadias, Ventricular septal defect, Cardiomegaly, Multiple pren... |
OMIM:616897 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, Obesity, Low posterior hairline |
ORPHA:2183 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... |
OMIM:614602 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Short stature, Sparse facial hair, Sparse axillary hair, Intrauterine ... |
OMIM:608154 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Fine hair, Gait ataxia, Growth delay, Truncal ataxia, S... |
OMIM:616817 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Wide nasal bridge, Myocardial fibrosis, Pericardial constriction, Thi... |
OMIM:253250 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Anorexia, Cachexia, Hypoplastic toenails, Dystrophic to... |
ORPHA:2930 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Irritability, Sparse hair, Dysphagia, Loss of ambulation, Intrauterine... |
OMIM:618253 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G... |
OMIM:617988 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Limited elbow mov... |
OMIM:300280 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Congenital Short Bowel Syndrome |
|
Sparse hair, Short stature |
ORPHA:2301 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Lo... |
ORPHA:3051 |
| 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 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Sparse hair, Hirsutism |
OMIM:618087 |
| Fanconi Anemia, Complementation Group S |
|
Ataxia, Short stature, Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive |
OMIM:617883 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Truncal obesity, Attention deficit hyperactivity disorder, Sparse hair, High anter... |
ORPHA:284180 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Dysphagia... |
OMIM:222300 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Proportionate short stature, Synophrys, Low anterior... |
ORPHA:391408 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Wide nasal bridge, Conge... |
OMIM:239850 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... |
OMIM:212140 |
| Anauxetic Dysplasia 2 |
|
Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation |
OMIM:617396 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Hawkinsinuria |
|
Sparse hair, Restlessness, Failure to thrive |
OMIM:140350 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Abdominal obesity, Intrauterine growth retardation, Spa... |
OMIM:300869 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:1883 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Low posterior hairline, Self-injurious behavior, Compulsive behaviors,... |
OMIM:613174 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... |
ORPHA:2470 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Decreased serum testosterone concentration... |
OMIM:305400 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, Failure to thrive, Dysphagia |
OMIM:620001 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Short stature, Abnormal hair whorl, Growth delay, Sparse hair, Intrauterine growth retardation |
ORPHA:2872 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Short stature, Aggressive behavior, Obesity, Irritability, Self-inj... |
OMIM:616364 |
| Desbuquois Syndrome |
|
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... |
ORPHA:1425 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, H... |
OMIM:212066 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Distal... |
ORPHA:42 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Depression, Attention deficit hyperactivity disorder, Jo... |
OMIM:618798 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acy... |
ORPHA:391428 |
| Even-Plus Syndrome |
|
Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow |
OMIM:616854 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Rhizomelia, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Short stature, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp... |
ORPHA:1787 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... |
OMIM:201475 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Fine hair, Growth delay, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:217346 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp... |
ORPHA:456312 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Intrauterine growth retardation, Growth delay, Small for gestational age |
OMIM:610756 |
| Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair |
OMIM:613224 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Sparse hair, Failure to thrive |
ORPHA:2316 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Athetosis, Sparse hair, Intrauterine growth retardation, Failure to thrive |
OMIM:219150 |
| Tetrasomy 12P |
|
Sparse hair, Cachexia, Short stature, Sparse eyebrow |
ORPHA:884 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Sparse body hair, Obesity |
ORPHA:2234 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Multiple joint contractures, Cardiomegaly, Long nose, Cryptorchidism,... |
OMIM:618143 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Fine ha... |
OMIM:129400 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Renal insuffic... |
ORPHA:93111 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Thin nail, Short stature, Aggressive behavior, Small for gestational age, Inability to wa... |
OMIM:617799 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Short stature, Small for gestational age, Fine hair, Fragile nails, ... |
OMIM:601675 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short nose, Delayed epiphyseal ossification, Cardiomegaly |
OMIM:613320 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Short stature, Aggressive behavior, Long eyelashes... |
OMIM:612313 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis |
OMIM:255120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Impaired temperature sensation |
ORPHA:100976 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Short nose, C... |
OMIM:200995 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Adrenoco... |
OMIM:130650 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Failure to thrive, Highly arched eyebrow, Supernumerary nipple, Inability to walk,... |
OMIM:615485 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Short stature, Dysmetria, Truncal obesity, Dysdiadochokinesis, Gait dis... |
OMIM:616541 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Postnatal growth retardation, Fine hair, Spa... |
ORPHA:251028 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
| Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
| Revesz Syndrome |
|
Ataxia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridge... |
OMIM:268130 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Hyp... |
OMIM:617713 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Growth delay, Nail... |
OMIM:613026 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Failure to thrive, Short stature, Hyperconvex nail |
OMIM:619721 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Flexion contracture, Wide nasal bridge, Vesicour... |
OMIM:605039 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen... |
OMIM:619259 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ... |
ORPHA:57777 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Pancreatic steatosis, Cryptorchidism, Reduced bone mineral density, Hyperechogenic... |
OMIM:617052 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... |
ORPHA:96149 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior, Dysphagia, Testicula... |
OMIM:300322 |
| Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ... |
ORPHA:264450 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Short stature, Concave nail, Leukonychia, Fine hair, Growth delay, ... |
OMIM:190350 |
| Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Flexion contracture, Clitoral hypoplasia,... |
OMIM:147791 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro... |
ORPHA:116 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardio... |
OMIM:608836 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited elbow movement, Cardiomegaly, Limited knee flexion/extension, Pollakisuria, Dysphagia, Li... |
ORPHA:268 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Failure to thrive, Growth delay, Nail dystrophy |
ORPHA:98813 |
| Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Delayed pubic bone ossification,... |
OMIM:618162 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Joubert Syndrome 37 |
|
Sparse hair, Short stature, Obesity |
OMIM:619185 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Synophrys, Gait disturbance, Gai... |
OMIM:300966 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Wide nasal bridge, Hypertrophic card... |
ORPHA:1517 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... |
ORPHA:730 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Failure to thrive, Aggressive behavio... |
OMIM:601358 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Lamellar Ichthyosis |
|
Sparse hair, Short stature, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... |
OMIM:614377 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... |
ORPHA:1005 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature |
OMIM:617763 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Nail d... |
OMIM:612199 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Wide nasal bridg... |
ORPHA:97297 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Micropenis, Abn... |
OMIM:227646 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Hyperactivity, Sparse scalp hair, Short stature, Large for gestational age, Loose ana... |
OMIM:607721 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hypothyroidism |
ORPHA:349 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Short stature, Sparse hair, Decreased body weight |
OMIM:616200 |
| Aredyld Syndrome |
|
Short stature, Cachexia, Intrauterine growth retardation, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:1133 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Craniofacial hyperostosis, Aggressive behavior, Joint stiffness, Hyp... |
ORPHA:581 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Growth delay |
OMIM:619980 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... |
OMIM:308300 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Recurrent fractures, Joint hypermobility, Craniosynostosis, Ca... |
OMIM:245600 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Panc... |
OMIM:610199 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Truncal obesity, Short stature, Thick eyebrow |
ORPHA:127 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
| Agel Amyloidosis |
|
Sparse hair, Ataxia, Nail dystrophy, Depression |
ORPHA:85448 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Arthrogryposis multiplex... |
OMIM:608013 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... |
OMIM:229850 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivi... |
OMIM:300967 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Short stature |
OMIM:268020 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets |
OMIM:208000 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Proportionate shor... |
OMIM:234100 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defe... |
ORPHA:96191 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne... |
OMIM:250250 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
| Atelosteogenesis Type I |
|
Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Abnormal pancrea... |
ORPHA:1190 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Rhizomelia, Small for gestational age, Growth delay, Nail dysplasia, Small nail, S... |
OMIM:614813 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Wide nasal bridge, Aorti... |
ORPHA:2308 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Pancreatic cysts, Abno... |
ORPHA:1318 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Athetosis, Intrauterine growth retardation, Fine hair |
OMIM:614438 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Spar... |
OMIM:302960 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Short stature, Fine hair |
ORPHA:1806 |
| Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature, Weight loss |
ORPHA:3163 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Cardiomegaly, Abnormal thymus morphology, Abnormal bone ossification, Joint hypermobi... |
ORPHA:2463 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Down Syndrome |
|
Sparse hair, Gait disturbance, Obesity, Impaired pain sensation |
ORPHA:870 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Thick hair, Postnatal growth retardation, Coarse hair, Sparse hair, Intrauterine g... |
ORPHA:357074 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... |
OMIM:106260 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Annular panc... |
OMIM:615710 |
| Macs Syndrome |
|
Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair |
OMIM:613075 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail |
ORPHA:2457 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl... |
ORPHA:974 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Tongue thrusting,... |
OMIM:115150 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema, Sparse hair, Failure to thrive |
OMIM:615934 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Depression... |
OMIM:157640 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Short stature, Failure to thrive in infancy, Abnormal eyelash mo... |
ORPHA:1340 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... |
OMIM:619991 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Pro... |
ORPHA:449432 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Central hypoth... |
ORPHA:798 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Bicuspid aortic valve, Hypospadias, Parachute mitral valve, Ventricular septal defec... |
OMIM:265380 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst... |
ORPHA:284 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Fine hair, G... |
ORPHA:2710 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Small for gestation... |
OMIM:268400 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Failure to thrive |
OMIM:257850 |
| De Barsy Syndrome |
|
Short stature, Postnatal growth retardation, Athetosis, Progressive cerebellar ataxia, Sparse hai... |
ORPHA:2962 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Intrauterine growth r... |
OMIM:613451 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Attention deficit hyperactivi... |
OMIM:616975 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Fractures of the long bones, Pericardial effusion, ... |
ORPHA:464329 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Breast hypoplasia, Depression, Delayed puberty, Sparse body hair |
ORPHA:432 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Compulsiv... |
ORPHA:904 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, P... |
ORPHA:353281 |
| Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair |
OMIM:619745 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Short stature, Small for gestational age, Fine hair, Sparse hair, Wooll... |
OMIM:222470 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... |
OMIM:618644 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Small for gestational age, Growth delay, Severe intrauterine growth re... |
OMIM:614114 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Polycystic... |
OMIM:263520 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Neonatal insulin... |
ORPHA:2255 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Growth delay |
OMIM:608612 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Cryptorchidism, Ureterocele... |
ORPHA:261265 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Anorexia, Hypercalciuria, Macronodular cirrhosis, 3-Methylglut... |
OMIM:557000 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... |
ORPHA:221008 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Coar... |
OMIM:617506 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection |
OMIM:158310 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitation of joint mobil... |
OMIM:252500 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Ataxia, Short stature, Small for gestational age |
OMIM:300661 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Nephronophthisis, In... |
OMIM:616307 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Wide nasal bridge, Pol... |
OMIM:164280 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
| Marshall Syndrome |
|
Sparse hair, Short stature, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Opitz-Kaveggia Syndrome |
|
Short stature, Fine hair, Frontal upsweep of hair, Attention deficit hyperactivity disorder, Spar... |
OMIM:305450 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Sparse body hair |
ORPHA:3068 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Recurrent fractures, Ectopic kidney, Cryptorchidism, Osteoporosis, Abnormality of th... |
ORPHA:3063 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Short stature, Decreased body weight |
OMIM:615349 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey... |
ORPHA:1775 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Fine hair, Sparse hair, Polyphagia |
OMIM:277590 |
| Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postnatal growth retardation, Trich... |
ORPHA:477 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
| Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... |
ORPHA:678 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
| Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Short stature, Small for gestational age, Sparse eyebrow, Sma... |
ORPHA:2909 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal f... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal f... |
ORPHA:353277 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Cockayne Syndrome B |
|
Dry hair, Severe short stature, Ataxia, Small for gestational age, Abnormal hair morphology, Post... |
OMIM:133540 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Flexion contracture, Osteoporosis, Oligosacchariduria, Dysphagia, Lef... |
ORPHA:365 |
| Oculodentodigital Dysplasia |
|
Dry hair, Ataxia, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
| Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Adrenal calcification, Cardiomegaly, Pe... |
ORPHA:51608 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Irritability, A... |
ORPHA:51 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Failure to thrive, Growth delay |
OMIM:615508 |
| Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hepatic stea... |
ORPHA:14 |
| Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ... |
ORPHA:444072 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Highly arched eyebrow, Large for gestational age, Gait ataxia, Fine hair, Hypop... |
OMIM:280000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| 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 |
| Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair |
OMIM:272950 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Impaired pain sensation, Short stature, Dysphagia |
OMIM:601559 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... |
ORPHA:2232 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous... |
ORPHA:95430 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Dysmetria, Gait ataxia, Distal sensory impairment, ... |
OMIM:606721 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Intrauterine growth retardation, Attention deficit hyperactivity disorder |
OMIM:619934 |
| Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alopecia unive... |
ORPHA:158668 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Myhre Syndrome |
|
Short stature, Ataxia, Small for gestational age, Obesity, Fine hair, Birth length less than 3rd ... |
OMIM:139210 |
| Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair... |
OMIM:602535 |
| Cockayne Syndrome A |
|
Dry hair, Short stature, Ataxia, Severe postnatal growth retardation, Gait disturbance, Sparse ha... |
OMIM:216400 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism... |
ORPHA:3472 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Joint stiffness, Secundum atrial septal defect, Flexion contracture, Pancreati... |
OMIM:609069 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Short stature, Highly arched eyebrow, Aggressive behavior, Sparse eyebrow, Syn... |
OMIM:619841 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Failure to thrive, Short stature, Sparse eyebrow |
OMIM:244450 |
| Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi... |
OMIM:181270 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... |
ORPHA:221016 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Annular pancreas, Knee flexion contracture |
ORPHA:488642 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Failure to thrive, Sparse scalp hair |
OMIM:612132 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
OMIM:607812 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
| Leprosy |
|
Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... |
ORPHA:548 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Menkes Disease |
|
Hypopigmentation of hair, Chorea, Sparse hair, Woolly hair, Intrauterine growth retardation |
ORPHA:565 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
| Lysinuric Protein Intolerance |
|
Short stature, Fine hair, Truncal obesity, Sparse hair, Failure to thrive |
OMIM:222700 |
| Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Failure to thrive |
OMIM:601812 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Sparse hair, Br... |
ORPHA:920 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Coarse hair, Sparse hair |
ORPHA:2750 |
| Cartilage-Hair Hypoplasia |
|
Rhizomelia, Sparse eyebrow, Disproportionate short-limb short stature, Sparse hair, Failure to th... |
ORPHA:175 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy... |
OMIM:613159 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Flexion contracture, Elbow fle... |
OMIM:256040 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Alopecia of scalp |
ORPHA:436252 |
| Primrose Syndrome |
|
Restlessness, Sparse scalp hair, Ataxia, Absent facial hair, Short stature, Aggressive behavior, ... |
OMIM:259050 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... |
OMIM:129900 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Unsteady gait, Sparse hair, Nail dysplasia, Loss of ambulation, Abnormal repetitive mannerisms |
OMIM:616682 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Orofaciodigital Syndrome I |
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Sparse hair, Alopecia, Dry hair, Short stature |
OMIM:311200 |
| Neurocardiofaciodigital Syndrome |
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Short stature, Small for gestational age, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:619869 |
| Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, Rhizomelia, Fine hair, Sparse hair |
OMIM:218330 |
| Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Intrauterine growth retardation, Failure to thrive, Short stature |
OMIM:151050 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Severe short stature, Abnormal eyelash morphology, Abn... |
ORPHA:2273 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Disproportionate short stature, Fine hair, S... |
OMIM:210710 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Failure to thrive, Short stature, Abnormal hair morphology, Abn... |
ORPHA:79474 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Delayed puberty, Failure to thrive, Spars... |
ORPHA:90796 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Short stature, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sp... |
OMIM:620186 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair, Severe postnatal growth retardation, Intrauterine growth retardation |
OMIM:620005 |
| Wrinkly Skin Syndrome |
|
Short stature, Postnatal growth retardation, Progressive cerebellar ataxia, Sparse hair, Intraute... |
ORPHA:2834 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Sparse hair, Failure to thriv... |
OMIM:218040 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Sparse eyebrow, Nail dystrophy, Sparse hair |
OMIM:619127 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Short stature, Sparse eyelashes, Sparse eyebrow, Sparse hair |
OMIM:613610 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short stature, Obesity, Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Failure ... |
OMIM:617157 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Ataxia, Short stature, Synophrys, Growth delay, Severe intrauterine growth ret... |
ORPHA:3455 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Roberts Syndrome |
|
Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation |
ORPHA:3103 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Patchy alopecia, Nail dystrophy, ... |
OMIM:305600 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Loss of eyelashes, Thin eyebrow, Sparse hair, Intrauterine growth... |
ORPHA:2636 |
| Chime Syndrome |
|
Sparse hair, Fine hair |
ORPHA:3474 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
| Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Short stature, Sparse lateral eyebrow |
OMIM:309500 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Mild postnatal growth retardation, Growth delay, Sparse hair, A... |
OMIM:150230 |
| Wrinkly Skin Syndrome |
|
Short stature, Short nail, Sparse hair, Intrauterine growth retardation, Failure to thrive, Fragi... |
OMIM:278250 |
| Restrictive Dermopathy |
|
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ... |
OMIM:113620 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom... |
OMIM:601803 |
| Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair, Postnatal growth retardation, Stillbirth, Severe intrauterine growth retardation |
OMIM:268300 |
