| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes |
OMIM:300946 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age, Hirsutism |
ORPHA:85288 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... |
OMIM:609628 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Decreased body weight |
OMIM:618097 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract, Abnormal fingernail morphology |
ORPHA:2278 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... |
OMIM:127550 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Obesity |
OMIM:615995 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Failure to thrive |
ORPHA:2169 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, D... |
ORPHA:124 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Inguinal hernia, Fine hair |
ORPHA:1174 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Small for gestational age, Microcornea, Tiger tail banding |
OMIM:616943 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Juvenile cataract, Sparse hair |
ORPHA:1264 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular volume, Astigmatism, Thr... |
ORPHA:261250 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... |
OMIM:261900 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Abnorma... |
ORPHA:2963 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Decreased body weight |
OMIM:618392 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Microcornea, Keratocon... |
OMIM:234050 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Failure to thrive |
ORPHA:100 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Elevated gamma-glutamyltransferase... |
OMIM:614480 |
| N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Immunodeficiency 54 |
|
Chromosome breakage, Failure to thrive, Hepatomegaly |
OMIM:609981 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... |
OMIM:611590 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| 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 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Cataract, Weight loss |
ORPHA:79238 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure |
ORPHA:369873 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of... |
OMIM:601675 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| 46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
| Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th... |
OMIM:614602 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Weight loss, Abnormality of the na... |
ORPHA:317 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly,... |
ORPHA:2930 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Brittle hair, Developmental cataract, Neutropenia, Tiger tail bandin... |
OMIM:616395 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Self-injurious behavior, Attention deficit hyperactivity d... |
ORPHA:908 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Childhood-onset truncal obesity |
OMIM:610156 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Developmental cataract, Decreased body weight, Camptodactyly |
OMIM:619420 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... |
ORPHA:90041 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... |
OMIM:612843 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| 19Q13.11 Microdeletion Syndrome |
|
Cataract, Supernumerary nipple, Cachexia, Fine hair, Microcornea, Sparse or absent eyelashes, Nai... |
ORPHA:217346 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contracture |
OMIM:615704 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Hernia |
ORPHA:1745 |
| Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... |
ORPHA:1520 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Ankle flexion contracture |
OMIM:619985 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair, Ectopia lentis |
OMIM:272300 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Weaver Syndrome |
|
Deep-set nails, Inguinal hernia, Abnormal fingernail morphology, Thin nail, Camptodactyly of fing... |
ORPHA:3447 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
| Congenital Varicella Syndrome |
|
Atypical scarring of skin, Cataract |
ORPHA:291 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Failure to thrive |
OMIM:617883 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Coarse hair, Joint contracture of the 5th finger, Sparse hair |
ORPHA:1883 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Cataract, Eosinophilia, Supernumerary nipple, Scarring, Keratitis, Leukocy... |
OMIM:308300 |
| Ruijs-Aalfs Syndrome |
|
Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion contracture, Premature gra... |
OMIM:616200 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacificatio... |
OMIM:158310 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Developmental cataract, Sparse hair |
OMIM:610756 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Cataract |
ORPHA:570422 |
| Fg Syndrome 3 |
|
Sparse hair, Joint contracture, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Lipodystrophy, Abnormality of hair texture, Coarse hair, Failure t... |
OMIM:219200 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive |
OMIM:617988 |
| Acrogeria |
|
Lipoatrophy, Fine hair |
ORPHA:2500 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Failure to thrive, Alopecia, Brittle hair |
ORPHA:50812 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:235555 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail d... |
OMIM:226600 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Abnormality of hair texture, Megaloblastic anemia, Developmental cataract, Umbil... |
ORPHA:79351 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Peeling Skin Syndrome 1 |
|
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia |
OMIM:270300 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Knee flexion contracture, Coarse hair, Sparse hair |
OMIM:118650 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Fine hair, Coarse ha... |
OMIM:242900 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair, Ectopia lentis, Lens subluxation, Failure to thrive |
OMIM:236200 |
| Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Rid... |
OMIM:268130 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl... |
ORPHA:35173 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Concave nail, Blue irides, Fine hair, Small nail |
OMIM:300978 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism |
OMIM:252900 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia, Failure t... |
OMIM:256500 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Umbilical hernia, Generalized hirs... |
ORPHA:2095 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Prominent corneal nerve fibers |
OMIM:616559 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Atrichia, Nail dystrophy |
ORPHA:1867 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick eyebrow |
ORPHA:585 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Small for gestational age, Synophrys, Low anterior hairline, Fine hair, De... |
ORPHA:391408 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Hall-Riggs Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Coarse hair, Failure to thrive |
ORPHA:2107 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Costello Syndrome |
|
Keratoconus, Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, F... |
ORPHA:3071 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Synophrys, Coarse hair, Hernia, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Camptodactyly, Sparse hair, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
| Trichothiodystrophy |
|
Ridged nail, Brittle hair, Multiple joint contractures, Microcornea, Conjunctivitis, Neutropenia,... |
ORPHA:33364 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Uncombable hair, Hernia of the abdominal wall, Aplas... |
ORPHA:3082 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion cont... |
OMIM:612394 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
| Chops Syndrome |
|
Curly hair, Cataract, Thick hair, Splenomegaly, Synophrys, Obesity, Coarse hair, Long eyelashes, ... |
OMIM:616368 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture... |
OMIM:614438 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive |
OMIM:615279 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Low posterior hairline, Sparse hair |
OMIM:613224 |
| Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Umbilical hernia, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, F... |
OMIM:257850 |
| Noonan Syndrome 4 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Blue irides, High anterior hairline, Throm... |
OMIM:610733 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
| Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Fine hair, Small nail |
OMIM:611553 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Small for gestational age, Fine hair |
OMIM:616817 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis |
OMIM:619208 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horizontal eyebrow, ... |
OMIM:620072 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Developmental cataract |
OMIM:618810 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, Hirsutism, Low posterior hai... |
OMIM:617303 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:609053 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... |
ORPHA:30391 |
| Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability |
ORPHA:99812 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Hepatic stea... |
OMIM:210900 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cellulitis, Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells |
OMIM:614878 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Anterior chamber flare, Weight loss, Normochromic anemia, Posterior ... |
ORPHA:91500 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, White hair, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
| Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract |
OMIM:601811 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Iris hypop... |
ORPHA:2720 |
| Noonan Syndrome 8 |
|
Curly hair, Failure to thrive, Large for gestational age |
OMIM:615355 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... |
OMIM:613990 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Fine hair |
ORPHA:3236 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Astigmatism, Hyperopic astigmatism, Fine hair |
ORPHA:363686 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Abnormality of hair texture |
ORPHA:96169 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Splenomegaly, Obesity, Coarse hair, Lymphopenia |
OMIM:605309 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Cataract, Small for gestational age, Abnormality of hair texture, Fair hair, I... |
OMIM:610443 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Oculodentodigital Dysplasia |
|
Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal d... |
ORPHA:2710 |
| Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Hernia, Low posterior hairline |
ORPHA:1912 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Small for gestational age, Increased mean platelet volume, Splenomegaly... |
OMIM:222470 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss |
ORPHA:160 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Attention deficit hyperactivity disorder, Chromosomal breakage induced by cr... |
OMIM:614083 |
| Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, Increased mea... |
ORPHA:84064 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Obesity, Fine hair |
OMIM:620250 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... |
ORPHA:357074 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Inguinal hernia, Cataract |
ORPHA:1069 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Splenomegaly, Synophrys, Coarse hair, Astigmatism, Long eyelashes, Hypoplastic nipple... |
OMIM:618268 |
| Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Cataract, Foot joint contracture, Sparse eyebrow, Fine hair, Sparse hair, Failur... |
ORPHA:444072 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal hair morpholog... |
OMIM:133540 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Chromosomal... |
OMIM:600901 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Noonan Syndrome 7 |
|
Curly hair, Large for gestational age, Low posterior hairline |
OMIM:613706 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Abnormality of hair texture |
ORPHA:88618 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Posterior Y-sutural cataract |
ORPHA:50814 |
| Oculodentodigital Dysplasia |
|
Dry hair, Cataract, Slow-growing hair, Fine hair, Microcornea, Joint contracture of the 5th finge... |
OMIM:164200 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
| Lysinuric Protein Intolerance |
|
Splenomegaly, Fine hair, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Sparse hair, Fail... |
OMIM:222700 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Chromosomal... |
OMIM:227650 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Sparse axillary hair, Sparse pubic hair, Developmental cataract, Anisocoria, Fine hair,... |
OMIM:181270 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Large for gestational age, Loose anagen hair, Ast... |
OMIM:607721 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ... |
ORPHA:2108 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive |
OMIM:300986 |
| Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Splenomegaly, Flexion contracture, Hirsutism, Coarse hair, Umbilical hernia, Thi... |
OMIM:253220 |
| Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb... |
OMIM:612199 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Cataract, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplas... |
ORPHA:235 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Corneal opacity, Camptodactyly of finger, Abnormal hair pattern, Abs... |
ORPHA:920 |
| Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Attention deficit hyperactivity disord... |
OMIM:227646 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Hernia, Thick eyebrow |
ORPHA:1394 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
| Trisomy 20P |
|
Inguinal hernia, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Low anterior hairlin... |
ORPHA:261318 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Fine ... |
OMIM:618891 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia |
OMIM:269200 |
| Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Chromosomal... |
OMIM:227645 |
| Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Cachexia, Attention deficit hyperactivity disorder |
ORPHA:647 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability, Failure to thrive |
ORPHA:175 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Enamel hypoplasia, Astigmatism |
OMIM:619184 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine ha... |
OMIM:234100 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair |
OMIM:614800 |
| Eec Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Keratitis, Sparse eyebrow, Corneal erosion,... |
ORPHA:1896 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Punctate cataract, Coarse hair, Posterior Y-sutural cataract, Sparse hair |
OMIM:607812 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Abnormal eyelash morphology, Low p... |
ORPHA:1340 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Cataract, Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior ... |
ORPHA:955 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Large for gestational age |
ORPHA:457485 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Truncal obesity, Anemia, Fine hair |
ORPHA:2637 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Congenital diaphragmatic hernia, Widow's peak, Breast hypopl... |
OMIM:304110 |
| Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Lymphopenia |
OMIM:619745 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Thick eyebrow |
OMIM:617360 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cataract, Fine hair |
OMIM:616202 |
| Ogden Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
| 2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Sparse eyebrow, Fine hair, Long e... |
ORPHA:261349 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Fanconi Anemia, Complementation Group P |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
| Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Inguinal hernia, Splenomegaly, Synophrys, Achilles tendon contracture, Elbow flexi... |
OMIM:252940 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Aplastic/hypoplastic to... |
ORPHA:1812 |
| Mucopolysaccharidosis Type 3 |
|
Inguinal hernia, Cataract, Corneal opacity, Thick hair, Splenomegaly, Synophrys, Flexion contract... |
ORPHA:581 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Inguinal hernia, Abnormal hair pattern |
ORPHA:1786 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair, Hiatus hernia |
OMIM:619603 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Cataract, Splenomegaly, Atypical ... |
OMIM:216400 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... |
OMIM:115150 |
| Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Brittle hair, Sparse eyebrow, Splenomegaly, Opacification of the corneal stroma,... |
OMIM:252500 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... |
ORPHA:1071 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... |
OMIM:617506 |
| Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Inguinal hernia, Splenomegaly, White hair, Fine hair, Hepatosplenomega... |
ORPHA:576 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Frontonasal Dysplasia 2 |
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Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
| Cockayne Syndrome Type 3 |
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Dry hair, Cataract, Splenomegaly, Flexion contracture, Microcornea, Premature graying of hair, Ke... |
ORPHA:90324 |
| Cockayne Syndrome |
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Reduced subcutaneous adipose tissue, Dry hair, Cataract, Cachexia, Band keratopathy, Splenomegaly... |
ORPHA:191 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Orofaciodigital Syndrome Type 3 |
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Abnormality of hair texture |
ORPHA:2752 |
| Weaver Syndrome |
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Deep-set nails, Inguinal hernia, Thin nail, Fine hair, Camptodactyly, Sparse hair, Umbilical hern... |
OMIM:277590 |
| Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology,... |
ORPHA:534 |
| Genitopatellar Syndrome |
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Sparse scalp hair, Hip contracture, Knee flexion contracture, Fine hair, Arthrogryposis multiplex... |
ORPHA:85201 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Low po... |
OMIM:613563 |
| Nicolaides-Baraitser Syndrome |
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Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Failure to thrive, Low anterior hai... |
OMIM:601358 |
| Riddle Syndrome |
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Chromosomal breakage induced by ionizing radiation, Weight loss |
ORPHA:420741 |
| Neuroocular Syndrome |
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Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophrys, Lens coloboma, Blue i... |
OMIM:619539 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Curly hair, Cataract, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplas... |
ORPHA:444077 |
| Fanconi Anemia |
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Abnormality of chromosome stability, Abnormality of the liver, Weight loss |
ORPHA:84 |
| Lateral Meningocele Syndrome |
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Keloids, Umbilical hernia, Coarse hair, Inguinal hernia |
OMIM:130720 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Agitation, Small for gestational age, Weight loss |
ORPHA:424 |
| Opitz-Kaveggia Syndrome |
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Inguinal hernia, Multiple joint contractures, Fine hair, Frontal upsweep of hair, Camptodactyly, ... |
OMIM:305450 |
| Noonan Syndrome 10 |
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Sparse eyebrow, Curly hair, Prominent corneal nerve fibers |
OMIM:616564 |
| Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
| Noonan Syndrome 2 |
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Curly hair, Sparse eyebrow, Low posterior hairline, Arthrogryposis multiplex congenita, Leukemia |
OMIM:605275 |
| Marshall-Smith Syndrome |
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Omphalocele, Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, ... |
OMIM:602535 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Decreased resting energy ... |
ORPHA:404454 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Inguinal hernia, Highly arched eyebrow, Large for gestational age, Fine hair, Acute lymphoblastic... |
OMIM:280000 |
| Myhre Syndrome |
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Cataract, Small for gestational age, Obesity, Fine hair, Camptodactyly, Sparse hair, Thick eyebrow |
OMIM:139210 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Sparse hair, Fine hair |
ORPHA:251028 |
| Chime Syndrome |
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Sparse hair, Fine hair, Corneal opacity, Acute leukemia |
ORPHA:3474 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Cranioectodermal Dysplasia 3 |
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Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
| Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Menkes Disease |
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Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, S... |
ORPHA:565 |
| Focal Dermal Hypoplasia |
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Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Ectopia lentis, Co... |
OMIM:305600 |
| Fontaine Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Absent nipple, Small f... |
OMIM:612289 |
| Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dry hair, Low anterior hairline |
OMIM:618569 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Reduced subcutaneous adipose tissue, Curly hair, Low anterior hairline, Long eyelashes, Horizonta... |
OMIM:619950 |
| Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Anemia, Abnormality of hair texture |
ORPHA:667 |
| Meningioma |
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Chromosomal breakage induced by ionizing radiation, Obesity |
ORPHA:2495 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Brittle hair, Failure to thrive, Cataract |
OMIM:124000 |
| Renpenning Syndrome 1 |
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Brittle hair, Cataract, Camptodactyly, Sparse hair, Joint contracture of the hand, Sparse lateral... |
OMIM:309500 |
| Ogden Syndrome |
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Inguinal hernia, Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Minimal subcu... |
OMIM:300855 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Synophrys, Flexion contracture, Knee flexion contracture, Thoracic hypertrichosis, Medial flaring... |
OMIM:619503 |
| Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair, Enamel hypoplasia |
OMIM:218330 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| Melnick-Needles Syndrome |
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Omphalocele, Coarse hair, Failure to thrive, Frontal hirsutism |
OMIM:309350 |
| Distal Deletion 12Q |
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Failure to thrive in infancy, Elbow flexion contracture, Obesity, Fine hair, Small nail |
ORPHA:96149 |
| X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Orofaciodigital Syndrome Type 1 |
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Alopecia, Brittle hair, Abnormal dental enamel morphology, Coarse hair, Sparse hair |
ORPHA:2750 |
| Noonan Syndrome |
|
Abnormal hair quantity, Abnormality of the spleen, Coarse hair, Low posterior hairline |
ORPHA:648 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplastic fifth ... |
OMIM:135900 |
| Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Inguinal hernia, Cataract, Small for gestational age, Hyperconvex ... |
OMIM:613406 |
| Occipital Horn Syndrome |
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Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Atypical scarring of skin, ... |
ORPHA:198 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the... |
ORPHA:83617 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia |
OMIM:311200 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Sparse hair, Fa... |
OMIM:218040 |
| Zttk Syndrome |
|
Curly hair, Sparse eyebrow, Flexion contracture, Failure to thrive, Broad eyebrow |
OMIM:617140 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Localized hypoplasia of dental ... |
ORPHA:73223 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
| Coffin-Lowry Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weig... |
OMIM:303600 |
| Occipital Horn Syndrome |
|
Coarse hair, Pili torti, Hiatus hernia |
OMIM:304150 |
| Liver Disease, Severe Congenital |
|
Dry hair, Inguinal hernia, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Nail dystro... |
OMIM:619991 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology,... |
ORPHA:286 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Cataract, Astigmatism, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Failure to thrive in infancy, Broad lateral eyebrow |
ORPHA:500150 |
| Alström Syndrome |
|
Cataract, Dorsocervical fat pad, Frontal balding, Splenomegaly, Posterior subcapsular cataract, O... |
ORPHA:64 |
