| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... |
OMIM:202150 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... |
OMIM:620651 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypogonadism, Decreased testic... |
OMIM:614962 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Intrauterine growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, ... |
OMIM:619761 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou... |
OMIM:618204 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger |
OMIM:259270 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Developmental And Epileptic Encephalopathy 87 |
|
Widely spaced teeth, Bulbous nose, Prominent nose, Hypotelorism, Hypertelorism, High palate, Wide... |
OMIM:618916 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Diabetes Insipidus, Neurohypophyseal |
|
Hypertelorism, Long philtrum, Short nose, Wide nose |
OMIM:125700 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Concave nasal ridge, Failure to thrive, Decreased response to growth hormone stimulation test, Ly... |
OMIM:245590 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Optic disc hypoplasia, Aspiration p... |
OMIM:609528 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Non-Syndromic Metopic Craniosynostosis |
|
Wide nasal bridge, Hypotelorism |
ORPHA:3366 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... |
OMIM:269840 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Antever... |
OMIM:613604 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... |
ORPHA:1200 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Failure to thrive, Anteverted nares, Thick eyebrow, Short philtrum,... |
ORPHA:217340 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... |
OMIM:618495 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Prominent nasal bridge, Upslanted palpe... |
OMIM:613544 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Abnormality of the hepatic... |
ORPHA:275555 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Amyotrophy, Hereditary Neuralgic |
|
Depressed nasal bridge, Long nasal bridge, Narrow mouth, Upslanted palpebral fissure, Hypoteloris... |
OMIM:162100 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Abnor... |
ORPHA:133 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5... |
ORPHA:71289 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... |
OMIM:613953 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Wide nasal bridge, Broad alveolar ridges, Hypotelorism, Epicanthus, Convex nasal ridge, High pala... |
OMIM:314320 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Trigonocephaly 1 |
|
Wide nasal bridge, High, narrow palate, Meckel diverticulum, Long philtrum, Upslanted palpebral f... |
OMIM:190440 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Hypertelorism, ... |
ORPHA:2007 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... |
OMIM:615952 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Wide nasal bridge, Underdeveloped nasal alae, Thick upper lip vermilion, Prominent nose, Prominen... |
OMIM:611091 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Sparse lateral eyebrow, Long philtrum, Narrow mout... |
ORPHA:261120 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Hypotonia-Cystinuria Syndrome |
|
Depressed nasal bridge, Cystine crystalluria, Failure to thrive, Decreased response to growth hor... |
OMIM:606407 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Broad secondary alveolar ridge, Hypotelorism, Epicanthus, Convex nasal ridge, ... |
ORPHA:3369 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Small hand, Xerostomia, Absence of pubertal development, Typ... |
ORPHA:398079 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Schaaf-Yang Syndrome |
|
Small hand, Clinodactyly, Cryptorchidism, Polyphagia, Micropenis, Short foot, Short palpebral fis... |
OMIM:615547 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... |
OMIM:608709 |
| Frontoocular Syndrome |
|
Short palpebral fissure, Proptosis, Prominent nasal bridge, Narrow mouth, Upslanted palpebral fis... |
OMIM:605321 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Clubbing, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Epicanthus, Ptosis, Iris cyst, Upslanted palpebral fissure |
OMIM:620086 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Hadziselimovic Syndrome |
|
Failure to thrive, Thick lower lip vermilion, Anteverted nares, Prominent nasal bridge, Hypotelor... |
OMIM:612946 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Hypotelorism, Smooth philtrum, H... |
OMIM:613192 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Leptin Receptor Deficiency |
|
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... |
OMIM:614963 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus... |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,... |
ORPHA:98754 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Eczematoid dermatitis, Failure to thrive in infancy, Decreased proportion... |
OMIM:617241 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Decreased response to growth hormone stimu... |
ORPHA:502430 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,... |
ORPHA:177904 |
| Coxopodopatellar Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... |
ORPHA:1509 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,... |
ORPHA:177901 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Hypoplastic left atrium, Broad nasal tip, Intestinal malrotation, Congenital d... |
OMIM:615524 |
| 2Q23.1 Microduplication Syndrome |
|
Highly arched eyebrow, Abnormality of the dentition, Dental crowding, Bilateral ptosis, Bulbous n... |
ORPHA:313947 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... |
OMIM:608971 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Renal ins... |
OMIM:615986 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Anal atresia, Narrow mouth, Hypotelorism |
ORPHA:3469 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Hypotelorism, Orofacial cl... |
OMIM:609637 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... |
OMIM:620296 |
| Trisomy 18P |
|
Wide nasal bridge, Highly arched eyebrow, High, narrow palate, Underdeveloped nasal alae, Bilater... |
ORPHA:1715 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Tooth malposition, Furrowed tongue, Cryptorchidism, Hypotelorism, Short p... |
ORPHA:1387 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Prominent nose, Hypotelorism, Deeply set eye, Thin upper lip vermilion, Smooth philtrum, Hypertel... |
OMIM:620688 |
| Holoprosencephaly 4 |
|
Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Hypotelorism, Median cleft uppe... |
OMIM:142946 |
| Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Long philtrum, Thick eyebrow, Cryptorchidism, Hypotelorism, Everted... |
ORPHA:1702 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Cleft upper lip, Cryptorchidism, Hypotelorism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:244200 |
| Giacheti Syndrome |
|
Hypotelorism |
OMIM:612917 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Obesity, Epicanthus, High palate, Short nose |
OMIM:300577 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Pneumocystosis |
|
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio... |
ORPHA:723 |
| Prader-Willi Syndrome |
|
Small scrotum, Small hand, Clinodactyly, Decreased muscle mass, Hyperinsulinemia, Genu valgum, Ty... |
OMIM:176270 |
| Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Anosmia, Cleft upper lip, Decreased response to growth hormone stimulation test,... |
OMIM:147250 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Small hand, Periodontitis, Xerostomia, Central adrenal insuf... |
ORPHA:739 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Obesity, Anteverted nares, Up... |
OMIM:617752 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Thin upper lip vermilion, Epicanthus, Short nose, Cleft palate |
ORPHA:2015 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... |
OMIM:614878 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, External genital hypoplasia, Obesity, Hypogonadotropic hypogonadism, Polyphagia, Shor... |
ORPHA:177910 |
| Chromosome 5P13 Duplication Syndrome |
|
Wide nasal bridge, Short palpebral fissure, Proptosis, Downturned corners of mouth, Bulbous nose,... |
OMIM:613174 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Downslanted palpebral fissures, Recurrent otitis media, Obesity, Polycyst... |
OMIM:616831 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Hypogonadism, Obesity, Large for gestational age, Polydactyly, Polyph... |
OMIM:617119 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Depressed nasal bridge, Short palpebral fissure, Highly arched eyebrow, Bifid uvula, Downslanted ... |
OMIM:618622 |
| Temple Syndrome |
|
Precocious puberty, Bifid uvula, Small hand, Recurrent hypoglycemia, Decreased response to growth... |
ORPHA:254516 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Telecanthus, Prominent nasal bridge, Upslant... |
OMIM:618974 |
| Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Gait... |
ORPHA:399 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos... |
ORPHA:139402 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Hypotelorism, Thin upper lip vermilion, High palate, Shor... |
OMIM:615042 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Tonne-Kalscheuer Syndrome |
|
Wide nasal bridge, Velopharyngeal insufficiency, Downturned corners of mouth, Downslanted palpebr... |
OMIM:300978 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... |
ORPHA:1906 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Downslanted palpebral fissures, Cryptorchidism, Blepharophimosis, Convex ... |
ORPHA:1695 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Upslanted palpebral fissure, ... |
ORPHA:250999 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... |
OMIM:613496 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Median cleft palate, Microphthalmia, Hepatomegaly, Recurrent respirato... |
ORPHA:2432 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... |
ORPHA:1802 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Abnormal tendon morphology, Reduced sperm motility, Difficulty walking, Decreas... |
ORPHA:320391 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... |
OMIM:253700 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Overlapping fingers, Pulmonary edema, Atrial septal defect, Hepatomegaly, Hig... |
ORPHA:79330 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Growth delay, Sandal gap, Cryptorchidism, Polypha... |
ORPHA:228402 |
| Bardet-Biedl Syndrome 17 |
|
Anosmia, Postaxial foot polydactyly, Polydipsia, Short fourth metatarsal, Hypogonadism, Mesoaxial... |
OMIM:615994 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... |
ORPHA:324575 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Epicanthus, High palate, Failure to thrive, Hypotelorism |
OMIM:616281 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... |
ORPHA:217563 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Bulbous nose, Obesity, Facial hypotonia, Overfriendliness, Epicanthus, Polyphag... |
OMIM:620439 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Wide nasal bridge, Depressed nasal bridge, Hypotelorism, Epicanthus, High palate |
OMIM:615760 |
| Weyers Acrofacial Dysostosis |
|
Solitary median maxillary central incisor, Conical tooth, Hypotelorism |
OMIM:193530 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Prominent nose, Narrow mouth, Upslanted palpebral fissure, Hypotelorism, Submucous c... |
OMIM:164220 |
| Erdheim-Chester Disease |
|
Xanthelasma, Weight loss, Ataxia, Polydipsia, Abnormal pericardium morphology, Osteomyelitis, Ren... |
ORPHA:35687 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Narrow nasal ridge, Deep philtrum, ... |
OMIM:137550 |
| Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge, Narrow mouth, Epicanthus, Lethargy, Hypertelorism |
ORPHA:324581 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia, I... |
OMIM:615703 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Adult-Onset Still Disease |
|
Neutrophilia, Hepatitis, Interstitial pneumonitis, Joint swelling, Skin rash, Splenomegaly, Leuko... |
ORPHA:829 |
| Holoprosencephaly 11 |
|
Cleft lip, Proptosis, Thick eyebrow, Hypotelorism, Cleft palate, Synophrys |
OMIM:614226 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Red... |
OMIM:620438 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Umbilical hernia, Abnormal heart morphology, Hyperglycemia,... |
ORPHA:99886 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
| Ogden Syndrome |
|
Flared nostrils, Palpebral thickening, Recurrent otitis media, Postnatal growth retardation, Cryp... |
OMIM:300855 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Right ventricular hypertrophy, Abnormal lung morphology, Pulmonary seques... |
ORPHA:70589 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... |
ORPHA:432 |
| Kleine-Levin Syndrome |
|
Polydipsia, Parosmia, Abnormal eating behavior, Decreased libido, Sweet craving, Polyphagia, Repe... |
ORPHA:33543 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
| Pediatric-Onset Graves Disease |
|
Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Polyd... |
ORPHA:525731 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Primary amenor... |
OMIM:300604 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Failure to thrive, Decreased response to growth hormone stimulation test, Cholestas... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Failure to thrive, Decreased response to growth hormone stimulation test, Cholestas... |
ORPHA:71526 |
| Systemic Capillary Leak Syndrome |
|
Pleural effusion, Leukocytosis, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pedal ed... |
ORPHA:188 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the dentition, Abnormality of the philtrum, Hypotelorism, Deeply set eye |
ORPHA:276422 |
| Whipple Disease |
|
Insulin resistance, Uveitis, Polydipsia, Anorexia, Pleuritis, Splenomegaly, Infectious encephalit... |
ORPHA:3452 |
| Chung-Jansen Syndrome |
|
Long philtrum, Obesity, Anteverted nares, Thick eyebrow, Cryptorchidism, Upslanted palpebral fiss... |
OMIM:617991 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... |
OMIM:617006 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Thin upper lip vermilion, Smooth ph... |
ORPHA:438178 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Broad nasal tip, Cleft upper lip, Supernumerary nipple, D... |
OMIM:612530 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Clinodactyly, Right ventricular hypertrophy, P... |
OMIM:614261 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Lead Poisoning |
|
Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas... |
ORPHA:330015 |
| Rabson-Mendenhall Syndrome |
|
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Reduced subcutaneous adipose tissue, V... |
ORPHA:769 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Bifid uvula, Cleft lip, Proptosis, Abnormality of the nose, Proboscis, Sh... |
OMIM:142945 |
| Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Thick eyebrow, Mic... |
OMIM:619736 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Failure to thrive, Apnea, Prominent nasal bridge, Death in childhood, Deeply set eye, Lethargy, N... |
OMIM:611523 |
| Distal Arthrogryposis Type 1 |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... |
ORPHA:1146 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... |
ORPHA:189427 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo... |
ORPHA:49041 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Bulbous nose, Hypotelorism, Oligodontia, Thin upper lip vermilion, Long palpebral fissure |
OMIM:618330 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Pierpont Syndrome |
|
Broad nasal tip, Failure to thrive, Unilateral narrow palpebral fissure, Widely spaced teeth, Tel... |
OMIM:602342 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Wide nasal bridge, Highly arched eyebrow, Velopharyngeal insufficiency, Long philtrum, Bilateral ... |
OMIM:614701 |
| Tetrasomy 12P |
|
Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe... |
ORPHA:884 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... |
OMIM:601457 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose |
ORPHA:46 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Failure to thrive, Renal insuff... |
ORPHA:213 |
| Joubert Syndrome 15 |
|
Retinopathy, Exencephaly, Ambiguous genitalia, Coloboma, Micropenis, Retinal dystrophy |
OMIM:614464 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Failure to thri... |
OMIM:619858 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Gombo Syndrome |
|
Abnormal heart morphology, Microphthalmia |
OMIM:233270 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Downslanted palpebral fissures, Failure to thrive in infancy, Obesity, Open mout... |
OMIM:613670 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Depressed nasal ridge, Downturned corners of mouth, Anteverted nares, Upslanted palpebral fissure... |
OMIM:618672 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Glucose intolerance, Abnormality of the upper urinary tract, Central diabetes ... |
ORPHA:411590 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Giant cell hepatitis, Ventricular septal defect, Atrial septal defect, Hepatic melan... |
OMIM:208085 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Failure to thrive, Decreased proportion of CD8-posi... |
ORPHA:169154 |
| Beukes Hip Dysplasia |
|
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... |
OMIM:142669 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomyopathy, Limb ataxia, Cardiomegaly, Pulmonary edema, Ptosis, Ataxia, Urinary incontinence,... |
OMIM:105210 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Nar... |
ORPHA:391408 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick eyebrow, Deeply set eye, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obe... |
ORPHA:2429 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Proptosis, Anteverted nares, Gingival overgrowth, Median cleft palate, Gin... |
ORPHA:1832 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Broad eyebrow, Narrow palpebral fissure, Synophrys |
OMIM:618302 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Anteverted nares, Hypotelorism, ... |
ORPHA:1515 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti... |
OMIM:615518 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Long eyelashes, Death in childhood, Death in infancy, Deeply set ey... |
OMIM:619064 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Wide nasal bridge, Long philtrum, Anteverted nares, Lethargy, Ptosis, Apneic epi... |
OMIM:312170 |
| Cystinosis, Nephropathic |
|
Genu valgum, Myopathy, Hematuria, Weight loss, Hepatomegaly, Dysphagia, Male infertility, Aminoac... |
OMIM:219800 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Failure to thrive, Hemophagocyto... |
OMIM:619644 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Reduced circulating complement con... |
ORPHA:567544 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pleural effusion, Pulmonary edema, Weight los... |
ORPHA:330001 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... |
OMIM:613404 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... |
ORPHA:168563 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Depressed nasal bridge, Reduced natural killer cell count, Failure to thrive, Antevert... |
OMIM:242860 |
| Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal proportion of CD8-posi... |
ORPHA:125 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nasal bridge, Sparse eyebrow, Hypoplasia of the maxilla, Ectopic lacrimal punctum, Telecanth... |
OMIM:167730 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Lethargy, Weight loss, Nocturia, Diabetes insipidus, Deh... |
ORPHA:178029 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Decreased proport... |
ORPHA:911 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Thrombocytosis, Knee osteoarthritis, Weight loss,... |
ORPHA:1304 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Decreased circulating complement C3... |
OMIM:614420 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Edema, Atelectasis |
OMIM:267450 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Autoimmunity, Polyphagia, Polyuria, Diabetes mellitus |
OMIM:222100 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Growth delay, Hypopituitarism, Decreased response to growth hormone ... |
ORPHA:226307 |
| Intellectual Disability And Myopathy Syndrome |
|
Broad nasal tip, Dental malocclusion, Hypotelorism, Thin upper lip vermilion, Incisor macrodontia... |
OMIM:619719 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| 6P22 Microdeletion Syndrome |
|
Epicanthus, Abnormal palate morphology, Hypotelorism, Deeply set eye |
ORPHA:251046 |
| Lig4 Syndrome |
|
Wide nasal bridge, Failure to thrive, Prominent nose, Cryptorchidism, Upslanted palpebral fissure... |
OMIM:606593 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Recurr... |
OMIM:615607 |
| Otodental Syndrome |
|
Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ... |
ORPHA:2791 |
| Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... |
OMIM:615297 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertility, Reduced s... |
OMIM:269700 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Systemic lupus erythematosus, Renal insufficiency, Membranoproliferative glo... |
OMIM:613779 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short palpebral fissure, Failure to thrive, Underdeveloped nasal alae, Thick vermilion border, Al... |
OMIM:300986 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Death in childhood, Downslanted palpebral fissures |
OMIM:613163 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Abno... |
ORPHA:1830 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... |
ORPHA:99867 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| 14Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Obesity, Epicanthus, Polyphagia... |
ORPHA:261229 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Downturned corners of mouth, Ob... |
OMIM:619680 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... |
ORPHA:48435 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... |
ORPHA:329918 |
| Microform Holoprosencephaly |
|
Choanal atresia, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Tented upper lip verm... |
ORPHA:280200 |
| 6Q16 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad-based gait, Abnormal temper tantrums, Bulbous nose, Obesity, Thick ... |
ORPHA:171829 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Telecanthus, Aplasia/Hypoplasia of the iris, Microd... |
ORPHA:782 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Downslanted palpebral fissures, Abnormal dental morphology, Thick eyeb... |
ORPHA:2025 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Angulated muscle fibers, Aspiration pneumonia, Weakness of facia... |
OMIM:619477 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, P... |
OMIM:608594 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Polydipsia, Obesity, Cryptorchidism, Hypohidrosis, Tracheoesophageal fistula, Maternal d... |
ORPHA:3157 |
| 46,Xx Gonadal Dysgenesis |
|
Ataxia, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak o... |
ORPHA:243 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:881 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... |
ORPHA:99413 |
| Congenital Fibrinogen Deficiency |
|
Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Cyanosis, Left ventricular hypertr... |
ORPHA:335 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia |
OMIM:601809 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defect, Microphthalmia, Opti... |
OMIM:613730 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... |
OMIM:607594 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Upslanted palpebral fissure, Epicanthus, Microphthalmia, Short stature, High palate... |
ORPHA:2528 |
| Cofs Syndrome |
|
Wide nasal bridge, Camptodactyly of finger, Hypogonadism, Intrauterine growth retardation, Death ... |
ORPHA:1466 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Joubert Syndrome 10 |
|
Wide nasal bridge, Postaxial foot polydactyly, Growth delay, Downslanted palpebral fissures, Obes... |
OMIM:300804 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Nephrolithiasis, Epicanthus, Polyphagia, Ptosis, Cystinuria, Growth delay |
ORPHA:163690 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Bicuspid... |
OMIM:615981 |
| Wolfram Syndrome |
|
Nephropathy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Cardiomyopathy, Re... |
ORPHA:3463 |
| Pyruvate Dehydrogenase Deficiency |
|
Wide nasal bridge, Long philtrum, Upslanted palpebral fissure, Epicanthus, Lethargy, Tachypnea, H... |
ORPHA:765 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amen... |
ORPHA:91351 |
| 17P13.3 Microduplication Syndrome |
|
Downslanted palpebral fissures, Narrow mouth, Hypertelorism, High palate, Short nose, Wide nose |
ORPHA:217385 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Telecanthus, Ptosis, Blepharophimosis, Crowded maxillary incisors, Man... |
ORPHA:397973 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Downslanted... |
ORPHA:1529 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Pulmonary cyst, Abscess, Ovarian cyst, Increased circulating antibody level, ... |
ORPHA:400 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Coloboma, Hydrocephalus, Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
| Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Ascites, Peripheral edema, Pulmonary edema, Left atrial enlargement, Cardio... |
ORPHA:57777 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Postnatal growth retardation, Polyphagia, Ataxia, Short foot, Short nose, Self-injurious behavior... |
OMIM:156200 |
| Premature Ovarian Failure 12 |
|
Primary amenorrhea, Macular dystrophy, Microphthalmia |
OMIM:616947 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, ... |
OMIM:616570 |
| Diamond-Blackfan Anemia 8 |
|
Wide nasal bridge, Thick upper lip vermilion, Short nose, Hypertelorism |
OMIM:612563 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Broad thumb, Small hand, Postnatal growth retardation, Cryptorchidism, Ventricu... |
ORPHA:251028 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerulonephritis, Ataxia, Ne... |
OMIM:619428 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short sta... |
ORPHA:329249 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Weight loss, Cleft palate |
ORPHA:141152 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... |
OMIM:619375 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... |
OMIM:611638 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Downslanted palpebral fissu... |
OMIM:601224 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thick lower lip vermilion, Failure to thrive in infancy, Bulbous nose, Hypotelorism, Deeply set e... |
OMIM:614104 |
| Acrootoocular Syndrome |
|
Wide nasal base, High, narrow palate, Dental malocclusion, Failure to thrive, Delayed eruption of... |
ORPHA:2980 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Polymicrogyria, Intrauteri... |
OMIM:301006 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Death in infancy, Umbilical hernia |
OMIM:254120 |
| Perlman Syndrome |
|
Wide nasal bridge, High, narrow palate, Abnormal pancreas morphology, Anteverted nares, Abnormal ... |
ORPHA:2849 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... |
ORPHA:454831 |
| Wagro Syndrome |
|
Hypoplastic female external genitalia, Downslanted palpebral fissures, Decreased testicular size,... |
OMIM:612469 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Peripheral edema, Interstitial cardiac fibrosis, Pulmonary edema, Le... |
ORPHA:75249 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, He... |
OMIM:127550 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus,... |
ORPHA:331235 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect... |
ORPHA:96121 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma, Optic pit |
OMIM:616428 |
| Frontofacionasal Dysplasia |
|
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Aplasia/Hypoplas... |
ORPHA:1791 |
| Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Narrow palate, Proptosis, Downslanted palpebral fissures, Thick vermilion bord... |
OMIM:619435 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Ankyloglossia, Genu valgum, Cryptorchidism, Mitral valve prolapse, Epicanthus, Polyph... |
OMIM:615873 |
| Man1B1-Cdg |
|
Wide nasal bridge, Broad-based gait, Sparse eyebrow, Downslanted palpebral fissures, Long eyelash... |
ORPHA:397941 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| White-Kernohan Syndrome |
|
Broad medial eyebrow, Epicanthus, Rectovaginal fistula, Short nose, Short palpebral fissure, Obes... |
OMIM:619426 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Long philtrum, Abnormal dental enamel morphology, Obesity, Prominent nose... |
ORPHA:439822 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Cleft upper lip, Hypogonadism, Hypopituitarism, Cryptorchidism, Hypo... |
OMIM:615849 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Short palpebral fissure, Abnormally large globe, Downslanted palpebral fissure... |
OMIM:611936 |
| Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Deeply set eye, Everted lower lip vermilion, Anterior pituitary hypoplasia, Hypert... |
ORPHA:177907 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypog... |
ORPHA:300373 |
| Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Abnormal vagina morphology, Polydipsia, Abnormal pleura morphology, R... |
ORPHA:537 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, P... |
OMIM:618052 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnormal i... |
ORPHA:397596 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Short palpebral fissure, Hypoplasia of the maxilla, Macrodontia of permane... |
OMIM:257850 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Pancreatitis |
ORPHA:70578 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Bulbous nose, Anteverted nares, Open mouth, Hypotelorism, Absent ... |
ORPHA:261211 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Obesity, Thick eyebrow, Inc... |
ORPHA:247768 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv... |
ORPHA:99931 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Proptosis, Xerostomia, Abnormality of the submandibular glands, Autoimm... |
ORPHA:79078 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Tooth agenesis, Open bite, Short columella, Microd... |
ORPHA:1248 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Telecanthus, ... |
ORPHA:228396 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Secundum atrial septal defect, Gonadal dysgenesis, Decreased pro... |
OMIM:611926 |
| Cebalid Syndrome |
|
Highly arched eyebrow, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissu... |
OMIM:618774 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares... |
OMIM:614069 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Wide nasal bridge, Lymphedema, Prominent nasal bridge, Renal insufficienc... |
OMIM:137940 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Hypotelorism |
ORPHA:1952 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Downturned corners of mouth, Downslanted palpebral fissures, Narrow mouth, Cryptorchidism, Hypote... |
OMIM:616817 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis, Lethargy, Apnea, Death in childhood |
OMIM:618225 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... |
OMIM:115197 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Recurrent otitis media, Cryptorchidism, Congenital diaphragmatic h... |
ORPHA:363528 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulat... |
OMIM:304790 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Irregular menstruation, Female ... |
OMIM:110100 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Lethargy, Ptosis, Failure to thrive |
OMIM:613561 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss, Bronchitis |
ORPHA:930 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Angelman Syndrome |
|
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela... |
ORPHA:72 |
| Pseudohypoparathyroidism Type 1C |
|
Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis, Short metacarpal, ... |
ORPHA:79444 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Muscular dystrophy, Failure to thrive, Absence of pubertal development, Azoos... |
OMIM:300200 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Neonatal death, Anoph... |
OMIM:601186 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... |
ORPHA:347 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... |
ORPHA:860 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,... |
OMIM:613913 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thick eyebrow, Upslanted palpebral fissure, Thin upper lip vermilion, ... |
OMIM:618737 |
| Meningioma |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Failure to thrive, Ca... |
ORPHA:1617 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepatic steato... |
OMIM:619991 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Open mouth, Tented upper l... |
OMIM:614744 |
| Cat-Eye Syndrome (Type I) |
|
Micrognathia, Iris coloboma, Downslanted palpebral fissures |
DECIPHER:42 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Failure to thrive, Long philtrum, Downslanted palpebral fissures, Bulbous nose, Hypotelorism, Dee... |
OMIM:612940 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Hypotelorism, Solitary median maxillary central incisor, High palate, Cleft palate |
OMIM:602418 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Prominent nose, Long philtrum, Hypotelorism |
OMIM:619691 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Small hand, Urinary bladder wall hypertrophy, Epicanthus... |
ORPHA:280633 |
| Moebius Syndrome |
|
Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Lower limb undergrowth,... |
OMIM:157900 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jau... |
ORPHA:93111 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Retrognathia, Downslanted palpebral fissures, Malar flattening, Abnormal palate mo... |
ORPHA:1390 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... |
OMIM:613652 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Ascites, De... |
ORPHA:91348 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Upslanted palpebral fissur... |
OMIM:613443 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Open mouth, Tented upper lip vermilion, Hypertelorism, Macroorchidism, Short nose |
OMIM:300143 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Oligosacchariduria, Umbilic... |
ORPHA:423461 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Ven... |
ORPHA:2515 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Downslanted palpebral fissures, Cryptorchidism, Hypotelorism, Death in ch... |
OMIM:300661 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Cataract, Short palpebral fissure, Highly arched eyebrow, Hypoplasia of the ma... |
OMIM:620157 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... |
ORPHA:199241 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Hypotelorism, Deeply set eye, P... |
OMIM:268850 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Short thumb, Downslanted palpebral fissures, Abnormal heart morphology, Intest... |
ORPHA:401935 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:614493 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bulbous nose, Long... |
OMIM:618828 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi... |
ORPHA:2298 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Multiple joint contractures, Mitral ... |
ORPHA:324604 |
| White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary... |
OMIM:615300 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| 47,Xyy Syndrome |
|
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Reduced social reciprocity, Impulsi... |
ORPHA:8 |
| Mandibulofacial Dysostosis With Alopecia |
|
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Lower eyelid coloboma, Micrognathi... |
OMIM:616367 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level... |
ORPHA:99889 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Lethargy, Weight loss, Diabetes insipidus, Growth delay |
ORPHA:30925 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Clinodactyly, Ankyloglossia, Epicanthus, Aplasia of the thymus, Atrial septal def... |
OMIM:620186 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Failure to thrive, Respiratory distress, Hypotelorism, Thin upper lip vermil... |
ORPHA:329178 |
| Malan Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Gingival overgrowth, Narrow mouth, Astigmatism, Hyp... |
OMIM:614753 |
| 48,Xxyy Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Epicanthus, Radioulnar synostosis, Blepharophimosis, A... |
ORPHA:10 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Wide nasal bridge, Renal hypoplasia, Rhizomelia, Supernumerary nipple, Stage 5 chronic kidney dis... |
OMIM:614376 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Pseudohypoparathyroidism Type 1A |
|
Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis, Short metacarpal, ... |
ORPHA:79443 |
| 48,Xyyy Syndrome |
|
Depressed nasal bridge, Male hypogonadism, Recurrent upper respiratory tract infections, Dislocat... |
ORPHA:99329 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:96253 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin... |
OMIM:612949 |
| 20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Long philtrum, Downslanted palpebral fissures, Narr... |
ORPHA:261295 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Proptosis, Long philtrum, Anteverted nares, Cryptorchidism, Hypertelorism, Bro... |
OMIM:618577 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Short palpebral fissure, Bifid uvula,... |
OMIM:300968 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Ptosis, Unilateral cleft lip, Hypotelorism |
ORPHA:2511 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Hemochromatosis, Type 1 |
|
Impotence, Cardiomyopathy, Ascites, Azoospermia, Glucose intolerance, Splenomegaly, Cardiomegaly,... |
OMIM:235200 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Congenital aphakia, Cyanosis, Ventricular septal defect, Polycys... |
ORPHA:137675 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth r... |
OMIM:616910 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Reduced subcutan... |
OMIM:612526 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Failure to thrive, Downslanted palpebral fissures, Breast aplasia, Anteve... |
ORPHA:276413 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Proptosis, Narrow mouth, Short nose |
ORPHA:2370 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Hypogonadism, External genital hypoplasia, Partial atrioventricular canal... |
OMIM:615996 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... |
OMIM:300400 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... |
OMIM:130650 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Short palpebral fissure, Duodenal atresia, Downslanted palpebral fissures... |
OMIM:614114 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Joint contracture ... |
OMIM:136760 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Intestinal... |
ORPHA:85450 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:26792 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... |
ORPHA:552 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Microcornea, Hypoplasia of the maxilla, Telecanthus, Microdontia, Hypodontia, ... |
OMIM:601499 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Cryptorchidism, Overfriendliness, Ventricular septal defect, Epicanthus, Ataxia, Hi... |
ORPHA:369891 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Cryptorchidism, Deeply set eye, Epicanthus, Hypertelorism, Short nose, Clef... |
OMIM:618454 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Upslanted palpebral fissure, Cryptorchidism, Hypotelorism, Abnormal palate m... |
ORPHA:3082 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Myopath... |
ORPHA:1606 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointer... |
ORPHA:358 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly of finger, Hypogonadism, Abnormality... |
ORPHA:3409 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid factor po... |
OMIM:615816 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Thick vermilion border, Long philtrum, Short nose, Deeply set eye |
ORPHA:833 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Sparse or absent eyelashes, Abnormal femur m... |
ORPHA:3130 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... |
ORPHA:2137 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Upslanted palpeb... |
OMIM:300558 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Pulmonary edema, Bicuspid aortic valve, Ataxia, Hypospadias, Dysphagia, Hypertroph... |
OMIM:220111 |
| Seckel Syndrome 7 |
|
Prominent nose, Hypotelorism, Primary amenorrhea |
OMIM:614851 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, M... |
OMIM:613177 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Postaxial foot polydactyly, Broad phalanges of the hand, Increased circulati... |
ORPHA:508533 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... |
OMIM:251270 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Micr... |
ORPHA:141333 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Long philtrum, Diastema, Anteverted nares, Upslanted palpebral fissure, E... |
OMIM:300581 |
| Parathyroid Carcinoma |
|
Abnormal parathyroid morphology, Weight loss, Dysphagia, Polydipsia, Pancreatic adenocarcinoma, T... |
ORPHA:143 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Recurrent pneumonia, Camptodactyly of finger, Intrauterine growth retardation, Death in infancy, ... |
ORPHA:1495 |
| Adnp Syndrome |
|
Broad thumb, Oral-pharyngeal dysphagia, Cryptorchidism, Polyphagia, Abnormal finger morphology, U... |
ORPHA:404448 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Branchial ... |
ORPHA:2260 |
| High Altitude Pulmonary Edema |
|
Pulmonary edema, Leukocytosis |
ORPHA:330012 |
| Baller-Gerold Syndrome |
|
Proptosis, Anteriorly placed anus, Failure to thrive in infancy, Narrow nasal bridge, Prominent n... |
ORPHA:1225 |
| Foxp1 Syndrome |
|
Recurrent upper respiratory tract infections, Broad nasal tip, Failure to thrive, Clinodactyly, D... |
ORPHA:391372 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... |
OMIM:301082 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Long philtrum, Ileus, Hypotelorism, Short philtrum, Smooth philtrum, Narrow ... |
OMIM:620156 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Elbow ... |
OMIM:214150 |
| Koolen-De Vries Syndrome |
|
Narrow palate, Failure to thrive, Cleft upper lip, Widely spaced teeth, Bulbous nose, Prominent n... |
OMIM:610443 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte morphology, Otitis ... |
ORPHA:229717 |
| East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscl... |
ORPHA:199343 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Wide nasal bridge, Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Bi... |
OMIM:616521 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... |
OMIM:275000 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Ovarian... |
ORPHA:64739 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Death in childhood, Ventricular septal defect |
OMIM:253300 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Downturned corners of mouth, Hypotelorism |
OMIM:618718 |
| Harrod Syndrome |
|
Dental malocclusion, Narrow mouth, Cryptorchidism, Hypotelorism, Long nose, High palate |
ORPHA:2115 |
| Immunodeficiency 32B |
|
Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Anemia, Eosin... |
OMIM:226990 |
| Roifman Syndrome |
|
Recurrent otitis media, Postnatal growth retardation, Hepatosplenomegaly, Hip contracture, Irregu... |
ORPHA:353298 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Abnormal ... |
ORPHA:91139 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Recurrent otitis media, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal ... |
OMIM:618494 |
| Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Meckel diverticulum, Failure to thrive, Natal tooth, Bilateral cryptorchidism, Hyp... |
OMIM:616395 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Clinodactyly, Abn... |
ORPHA:95699 |
| Thrombocytopenia 6 |
|
Deeply set eye, Hypotelorism, Spontaneous, recurrent epistaxis |
OMIM:616937 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... |
OMIM:300853 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Intrauterine growth retardation, Retinopathy, Macular atrophy, Microphthalmia, Opt... |
OMIM:616171 |
| Craniopharyngioma |
|
Growth delay, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Postn... |
ORPHA:54595 |
| Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recur... |
OMIM:607271 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased body weight, Hematuria, Pulmonary edema, Glomerulonephritis, Tu... |
ORPHA:340 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia |
ORPHA:209956 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Ogden Syndrome |
|
High, narrow palate, Proptosis, Everted upper lip vermilion, Underdeveloped nasal alae, Enlarged ... |
ORPHA:276432 |
| Classic Galactosemia |
|
Hypoglycemia, Ascites, Gait imbalance, Cryptorchidism, Primary amenorrhea, Hepatomegaly, Lethargy... |
ORPHA:79239 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Finger joint contracture, Intrauterine growth retardation, Microphthalmia, Dysmetri... |
ORPHA:48431 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aorti... |
ORPHA:1772 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus... |
ORPHA:858 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... |
ORPHA:280356 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... |
OMIM:601216 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Bulbous nose, Narrow nose, Irregular dentition, Hypotelorism, Smooth philtrum, Blepharophimosis, ... |
OMIM:615656 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Prominent nose, Cryptorchidism, Hypotelorism, Deeply set eye, Thin upper lip vermilion, Long nose... |
OMIM:300486 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Upslanted palpebral fissure, Thin... |
OMIM:615716 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy... |
ORPHA:572333 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ec... |
OMIM:618348 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the i... |
ORPHA:290 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Anosmia, Decreased serum testosterone concentration, Hypothalamic gona... |
OMIM:618841 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Azoospermia, Short stature, Hypoplasia of the uterus, ... |
OMIM:601076 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Death in childh... |
OMIM:615440 |
| Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Intestinal perforation |
ORPHA:314652 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Death in childhood, Bradykinesia |
OMIM:618683 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Prominent fingertip pads, Short toe, Short finger, Telecanthus, Crypt... |
ORPHA:487825 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Epicanthus, Limb undergrowth, Brachydactyly, Short nose |
ORPHA:221054 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Death in childhood |
OMIM:618224 |
| Johanson-Blizzard Syndrome |
|
Abnormal vagina morphology, Abnormality of the female genitalia, Dextrocardia, Abnormal nostril m... |
ORPHA:2315 |
| Orofaciodigital Syndrome Viii |
|
Bifid nasal tip, Broad nasal tip, Short tibia, Telecanthus, Polydactyly, High palate, Recurrent a... |
OMIM:300484 |
| Short Stature-Micrognathia Syndrome |
|
Failure to thrive, Downslanted palpebral fissures, Cryptorchidism, Hypotelorism, Decreased body w... |
OMIM:617164 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
| Lymphatic Filariasis |
|
Urethral obstruction, Predominantly lower limb lymphedema, Abnormal lung morphology, Lymphadeniti... |
ORPHA:2035 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... |
OMIM:616414 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Microphthalmia/Coloboma 4 |
|
Orbital cyst, Microphthalmia |
OMIM:251505 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma... |
OMIM:618652 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Gapo Syndrome |
|
Choanal atresia, Sparse eyebrow, Depressed nasal bridge, Umbilical hernia, Hypogonadism, Thick na... |
ORPHA:2067 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Autoimmunity |
ORPHA:163703 |
| Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Abnormal circulating interleukin concentration, Increased circulating interf... |
ORPHA:542323 |
| 49,Xxxxy Syndrome |
|
Small scrotum, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Renal hypoplasia/apla... |
ORPHA:96264 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... |
ORPHA:567546 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Microphthalmia |
OMIM:601794 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Thick lower lip vermilion, Anteverted nares, Cryptorchidism, Abnormal palate morph... |
ORPHA:2701 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Right ventricular hypertrophy, Patent foramen ovale, Abnormal tr... |
ORPHA:555874 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Anemia |
OMIM:606996 |
| Distal Deletion 10Q |
|
Wide nasal bridge, Proptosis, Failure to thrive, Downslanted palpebral fissures, Prominent nose, ... |
ORPHA:96148 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Thick eyebrow, Open mouth, Upslanted palpebral fissure, Deeply set eye, Short p... |
ORPHA:228384 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Sialadenitis, Autoimmunity, Has... |
ORPHA:64744 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomega... |
OMIM:170100 |
| Ohdo Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Widely spaced teeth, An... |
OMIM:249620 |
| Acromicric Dysplasia |
|
Long philtrum, Thick lower lip vermilion, Bulbous nose, Long eyelashes, Anteverted nares, Abnorma... |
ORPHA:969 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Muscular dystrophy, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait distu... |
ORPHA:1875 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Patent ductus arter... |
OMIM:249670 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Failure to thrive, Intrauterine growth retardation, Renal insuffici... |
ORPHA:320 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| 46,Xy Sex Reversal 4 |
|
Depressed nasal ridge, Renal dysplasia, Gonadal dysgenesis, Recurrent otitis media, Prominent nos... |
OMIM:154230 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ptosis, Lethargy, Apnea, Failure to thrive |
OMIM:618226 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Narrow mouth, Malar flattening, Abnormal palate morphology, Prominence of the ... |
ORPHA:2412 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Oral aversion, Increased c... |
ORPHA:470 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Muscular ventricul... |
OMIM:618804 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Bilateral ptosis, Type 1 muscle fiber predominance... |
ORPHA:98915 |
| Hartsfield Syndrome |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Intraut... |
ORPHA:2117 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu... |
ORPHA:1354 |
| Japanese Encephalitis |
|
Neutrophilia, Eyelid fasciculation, Skeletal muscle atrophy, Elbow flexion contracture, Infectiou... |
ORPHA:79139 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... |
ORPHA:98849 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea, Infertility |
OMIM:602390 |
| Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Abnormal salivary gland morphology, Abnormal pancreas morphology, Abnormality of the ... |
ORPHA:449432 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, B lymphocytopenia, Recur... |
ORPHA:217390 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis,... |
OMIM:612444 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Bilateral cleft palate, Euryblepharon, Distichiasis, Abnormal eyeli... |
ORPHA:1997 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitional B cells, D... |
OMIM:615513 |
| Hemochromatosis, Type 4 |
|
Impotence, Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegal... |
OMIM:606069 |
| Retinal Dystrophy With Leukodystrophy |
|
Cleft palate, Hypotelorism, Bilateral ptosis |
OMIM:618863 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... |
OMIM:265380 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Wide nasal bridge, Slender finger, Broad-based gait, Broad nasal tip, Eczematoid dermatitis, Gait... |
OMIM:620393 |
| 48,Xxxy Syndrome |
|
Small scrotum, Type II diabetes mellitus, Cryptorchidism, Epicanthus, Talipes equinovarus, Radiou... |
ORPHA:96263 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Ventricular septal defect, Short nose, Ascites, Hypertrophic cardiomy... |
OMIM:616897 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, B... |
OMIM:206920 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormal parathyroid morphology, Parathyroid adenoma, Dysphagia, Polydipsia, Pancreatic adenocarc... |
ORPHA:99880 |
| Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Finger swelling, Glomerulonephritis, Abnormality of ... |
ORPHA:90291 |
| Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... |
OMIM:137920 |
| Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Underdeveloped nasal alae, Clinodactyly, Anteverted nares, Prominent nasal bri... |
OMIM:617883 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Recurrent pneumonia, Proximal femoral metaphyseal irregularity, Splenomegaly, Disprop... |
OMIM:602271 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Mercury Poisoning |
|
Acute kidney injury, Interstitial pneumonitis, Anorexia |
ORPHA:330021 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age, Neonatal death |
OMIM:610498 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Highly arched eyebrow, Wide nasal bridge, Failure to thrive, Pachygyria, P... |
OMIM:243310 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Clinodactyly, Cryptorchidism, Short foot, Short n... |
OMIM:305400 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Failure to thrive, Hypotelorism |
ORPHA:477673 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma, Microphthalmia |
OMIM:274270 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Lymphedema, Primary, With Myelodysplasia |
|
Epicanthus, Hypotelorism |
OMIM:614038 |
| Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyu... |
OMIM:613824 |
| Glutathionuria |
|
Hypotelorism |
OMIM:231950 |
| Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Renal hypoplasia, Toe syndactyly, Renal agenesis, Umbilical hernia, Obesi... |
ORPHA:171839 |
| Trisomy 1Q |
|
Depressed nasal bridge, Downslanted palpebral fissures, Narrow mouth, Cryptorchidism, Hypoteloris... |
ORPHA:261344 |
| Glycine Encephalopathy 1 |
|
Lethargy, Death in infancy |
OMIM:605899 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Proptosis, Long philtrum, Downslanted palpebral fissures, Obesity, Long eyelas... |
OMIM:620250 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Telecanthus, Leukopenia, Long thumb, Attention de... |
OMIM:619151 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, R... |
ORPHA:293987 |
| Trisomy 13 |
|
High, narrow palate, Abnormality of the dentition, Long philtrum, Cryptorchidism, Hypotelorism, D... |
ORPHA:3378 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Cryptorchidism, Epican... |
OMIM:277590 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Short nose |
DECIPHER:52 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Braddock Syndrome |
|
Epicanthus, Hypotelorism, Failure to thrive, Blepharophimosis |
ORPHA:52047 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... |
OMIM:618316 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... |
OMIM:600955 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ... |
OMIM:208900 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Death in childhood, Autoimmune hemolytic anemia... |
OMIM:619220 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Left ventricular hypertrophy, Coloboma, Retinal detachment, Hydrocephalus, Mi... |
OMIM:613153 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Familial Cold Urticaria |
|
Polydipsia, Hyperhidrosis, Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Priapism, Hyperglycemia, Rhabdomyolysis, Pulmonary ed... |
ORPHA:466677 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Congenital hypothyroidism, Intrauterine growth retardation, Obesity, Cryp... |
OMIM:614613 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Slender build, Cryptorchidism, Ventricular septal defect, Epicanthus, Atria... |
ORPHA:466791 |
| Complement Component 4A Deficiency |
|
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... |
OMIM:614380 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Epicanthus, Thick... |
OMIM:618506 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D... |
OMIM:180900 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... |
OMIM:152700 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla,... |
OMIM:180500 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Wide nasal bridge, Broad columella, Long philtrum, Respiratory distress, Narrow nasal bridge, Ant... |
OMIM:619383 |
| Trisomy 12P |
|
Wide nasal bridge, Proptosis, Downturned corners of mouth, Supernumerary nipple, Thick eyebrow, E... |
ORPHA:1699 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Broad-based gait, Recurrent bronchitis, Ventricular septal defect, Hair-pulling, E... |
OMIM:620330 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Treacher Collins Syndrome 1 |
|
Choanal atresia, Sparse lower eyelashes, Downslanted palpebral fissures, Lower eyelid coloboma, C... |
OMIM:154500 |
| Holoprosencephaly |
|
Cryptorchidism, Deeply set eye, Epicanthus, Blepharophimosis, Hypertelorism, Cyclopia, Choanal at... |
ORPHA:2162 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Growth ... |
ORPHA:223 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypotelorism |
OMIM:619091 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephroli... |
ORPHA:369929 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Inflammation of the large intes... |
ORPHA:110 |
| 49,Xyyyy Syndrome |
|
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory ... |
ORPHA:99330 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Camptodactyly of finger, Arrhy... |
ORPHA:2928 |
| Craniotelencephalic Dysplasia |
|
Hypotelorism |
OMIM:218670 |
| Rigid Spine Syndrome |
|
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myopathy, ... |
ORPHA:97244 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Distichiasis, Long philtrum, Short nose, High palate |
ORPHA:2598 |
| Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Bilateral cleft palate, Hypertelorism, Bifid nose, Absent nasal septal ... |
OMIM:610828 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Highly arched eyebrow, Short palpebral fissure, Depressed nasal bridge, Short distal phalanx of f... |
OMIM:615866 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Proptosis, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Prominent ... |
ORPHA:2215 |
| 16P12.1P12.3 Triplication Syndrome |
|
Epicanthus, Atrial septal defect, Short nose, High, narrow palate, Short 5th finger, Short palpeb... |
ORPHA:485405 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... |
ORPHA:915 |
| Warburg Micro Syndrome 1 |
|
Wide nasal bridge, Failure to thrive, External genital hypoplasia, Anteverted nares, Overlapping ... |
OMIM:600118 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Proximal muscle weakness in upper limbs, Progressive ptosis, Distal lower li... |
ORPHA:98897 |
| Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Anasarca, Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomy... |
OMIM:261740 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Esop... |
OMIM:616028 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes... |
OMIM:613885 |
| Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Cryptorchidism, Deeply set eye, Epicanthus, Everted lower lip vermilion, Hy... |
OMIM:615485 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus, Microphthalmia, Facial palsy, Retinal dystrophy |
OMIM:613155 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Anosmia, Increased serum leptin, Hyperinsulinemia, Polyphagia, Hyposmia |
OMIM:617885 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Postaxial foot polydactyly, Cholestasis, Hepatosplenome... |
OMIM:267010 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
| Short Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the ... |
ORPHA:3163 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Retinal detachment, Microphthalmia, Iris coloboma |
ORPHA:1473 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Arachnodactyly, High palate, Glomerulonephritis |
ORPHA:2172 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Anhidrosis, Proteinuria, Polyphagia, Delayed puberty,... |
ORPHA:251004 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... |
OMIM:618986 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Atopic dermatitis, Depressed nasal ridge, Highly arched eyebrow, Dysplasia of th... |
OMIM:616854 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Hyp... |
OMIM:239200 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Hypotelorism, Hyperteloris... |
OMIM:617822 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Retinal degeneration, Vent... |
OMIM:249270 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla |
ORPHA:2776 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Narrow mouth, Cryptorchidism, Deeply set eye, Blepharophimosis, Hypertelorism, High palate, Short... |
OMIM:309590 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertro... |
ORPHA:251274 |
| Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Long philtrum, Short nose, Cleft palate |
ORPHA:90653 |
| Saethre-Chotzen Syndrome |
|
Blepharospasm, Depressed nasal bridge, Open bite, Prominent nasal bridge, Cryptorchidism, Hypotel... |
ORPHA:794 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Rubinstein-Taybi Syndrome 2 |
|
Highly arched eyebrow, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Downslant... |
OMIM:613684 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Hypopituitarism, Recurrent otitis media, Increased circulati... |
ORPHA:98813 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Upslanted palpebral fissure |
ORPHA:93950 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Flexion contracture, Failure to thrive, Short nose |
OMIM:618379 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Hyperglycemia, Weight loss, Cirrhosis, Hepatomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Congenit... |
ORPHA:2470 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Clubbing, Recurrent... |
ORPHA:60033 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Recurrent pneumonia, Sparse eyebrow, Nasolacrimal duct obstruction, Spars... |
OMIM:604173 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Epicanthus, Polyphagia, Atrial ... |
OMIM:607872 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone dystrophy, ... |
ORPHA:363741 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Small scrotum, Depressed nasal bridge, Underdeveloped nasal alae, Hypogonadism, Intrauterine grow... |
ORPHA:228390 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Everted lower lip vermilion, Hypertelorism, Short nose, Pierre-Robin sequence, Abnormality of can... |
ORPHA:364577 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... |
OMIM:620548 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Micrognathia, Su... |
ORPHA:3145 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Downslanted palpebral fissures, Narrow mouth, Cryptorchidism, Hypotelorism, Deeply set eye, High ... |
OMIM:602471 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Miscarriage |
ORPHA:464370 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Downslanted palpebral fissures, Telecanthus, Malar flattening, Short nose |
OMIM:122880 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Growt... |
ORPHA:567548 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Slender build, Cryptorchidism, Ventricular septal defect, Atrial ... |
OMIM:300967 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin... |
ORPHA:64 |
| Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... |
ORPHA:3384 |
| Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Increa... |
OMIM:209950 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Congenital diaphragmatic hernia, Cryptorchidism, Epicanthus, Weight loss, High palat... |
ORPHA:251071 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Carious teeth, Broad columella, Underdeveloped nasal alae, Abnormality of ... |
ORPHA:2710 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... |
OMIM:618108 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Short philtrum, Hypotelorism, Deeply set eye |
OMIM:603585 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
| Peho-Like Syndrome |
|
Epicanthus, Tapered finger, Edema, Short nose |
OMIM:617507 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Microphthalmia, Optic disc pa... |
OMIM:300887 |
| Ring Chromosome 7 Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Bifid uvula, Narrow naris, Downslanted palpebral fissur... |
ORPHA:1449 |
| Gordon Holmes Syndrome |
|
Ataxia, Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary a... |
OMIM:212840 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Systemic lupus erythematosus, Abnormal heart valve morphology, Hypersplenism, Int... |
ORPHA:77293 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... |
OMIM:619126 |
| Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Neonatal death, Camptoda... |
OMIM:610015 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Chorioretinal coloboma, Cryptorchidism, Coloboma, Atrial septal defect, Coronal hypo... |
ORPHA:921 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:616730 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Volvulus, Cholestasis, Villous atrophy, Abnormal small... |
ORPHA:95427 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Smooth philtrum, Short nose |
OMIM:618218 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, Retinal dysplasia, Coloboma, Microphthalmia |
OMIM:615665 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Ventricular septal defect, Talipes equinovarus, Atrial septal defe... |
ORPHA:79328 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type I... |
ORPHA:100 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P... |
ORPHA:99095 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Failure to thrive, Narrow mouth, Cryptorchidism, Hypotelorism, Narrow nasal ridge, Hypertelorism |
OMIM:219150 |
| Arima Syndrome |
|
Postaxial foot polydactyly, Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis,... |
OMIM:243910 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Pleural ... |
ORPHA:3392 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Bilateral breast hypoplasia, Hypotelorism, Primary amenorrhea |
ORPHA:319675 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Choanal atresia, Proptosis, Anteverted nares, Hypertelorism, Macroglossia... |
ORPHA:1914 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy |
OMIM:275300 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia |
OMIM:609218 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Wide nasal bridge, Downslanted palpebral fissures, Bulbous nose, Telecanthus, Almond-shaped palpe... |
OMIM:620292 |
| Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Failure ... |
OMIM:617201 |
| Gitelman Syndrome |
|
Ataxia, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Growth delay, Chondr... |
OMIM:263800 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Lethargy, Secondary amenorrhea, Primary amenorrhea |
OMIM:603896 |
| Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Encephalocele, Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose |
OMIM:200130 |
| Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
| Acrodysostosis |
|
Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Epicanth... |
ORPHA:950 |
| Obesity |
|
Decreased resting energy expenditure |
OMIM:601665 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Non-midline cleft of the upper lip, ... |
ORPHA:245 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Micro... |
ORPHA:2328 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, ... |
ORPHA:1327 |
| Mirage Syndrome |
|
Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreas... |
OMIM:617053 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Keratoconjunctivitis, Lethargy, Tachypnea, Weight loss |
ORPHA:79242 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Renal tubular dysfunction, Hematuria, Pulmonary edema, Gastritis, ... |
ORPHA:31826 |
| Igg4-Related Ophthalmic Disease |
|
Dacryocystitis, Abnormal morphology of bony orbit of skull, Sialadenitis, Orchitis, Abnormality o... |
ORPHA:449563 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal mitral valve mor... |
ORPHA:7 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Apnea, Failure to thrive |
OMIM:618228 |
| Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate |
OMIM:246560 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Epicanthus, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndro... |
OMIM:617303 |
| Miller-Dieker Syndrome |
|
Epicanthus, Anteverted nares, Abnormal upper lip morphology, Short nose |
ORPHA:531 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis |
OMIM:618695 |
| Vici Syndrome |
|
Depressed nasal tip, Death in infancy, Hypotelorism, Hypertelorism, High palate |
ORPHA:1493 |
| Young Syndrome |
|
Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon... |
OMIM:279000 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy, Central apnea |
ORPHA:71277 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Cryptorchidism, Hip contracture, Epicanthus, Talipes equinovarus, ... |
OMIM:193700 |
| Developmental And Epileptic Encephalopathy 75 |
|
Wide nasal bridge, Proptosis, Anteverted nares, Open mouth, Hypertelorism, Short philtrum, Short ... |
OMIM:618437 |
| Rere-Related Neurodevelopmental Syndrome |
|
Self-injurious behavior, Choanal atresia, Abnormal heart morphology, Postnatal growth retardation... |
ORPHA:494344 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Long philtrum, Downslanted palpebral fissures, Bilateral ptosis, Bulbous nose,... |
OMIM:619512 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Telecanthus, Micrognathia, Upslanted palpebral fissure, Malar flatteni... |
ORPHA:79113 |
| Omenn Syndrome |
|
Pneumonia, Failure to thrive, Edema, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Spl... |
ORPHA:39041 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Increased proportion of ... |
OMIM:618982 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... |
ORPHA:169160 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, To... |
OMIM:314300 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Bronchiectasis, Nasal congestion, Situs inversus totalis, Recurrent sinusitis, Recurrent respirat... |
OMIM:300991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Downslanted palpebral fissures, Ventricular septal defect, Polydactyly, E... |
OMIM:602501 |
| Joubert Syndrome 37 |
|
Wide nasal bridge, Decreased testicular size, Obesity, Anteverted nares, Cryptorchidism, Hydronep... |
OMIM:619185 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Jacobsen Syndrome |
|
Cryptorchidism, Ventricular septal defect, Epicanthus, Atrial septal defect, Microphthalmia, Shor... |
OMIM:147791 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Bulbous nose, Anteverted n... |
OMIM:614105 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis |
OMIM:618449 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal ... |
ORPHA:1913 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease... |
OMIM:604387 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Proptosis, Long philtrum, Antev... |
OMIM:618529 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Postnatal growth retardation, Overlapping toe, Cutaneous finger syndactyly, Cryptorchidism, Reduc... |
OMIM:613026 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Small scrotum, Increased variability in muscle fiber diameter, Cryptorchidism, Increased connecti... |
ORPHA:98905 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Cryptorchidism, Anophthalmia, Eyelid coloboma, Orbital cyst, Orbital encephalocel... |
OMIM:164180 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Encephalocele, Cryptorchidism, Epicanthus, Talipes equinovarus, Small thenar emi... |
OMIM:619148 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis |
OMIM:617638 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Long philtrum, Downslanted palpebral ... |
OMIM:617061 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Aspergillosis |
|
Pneumonia, Dacryocystitis, Keratitis, Hepatitis, Nasal congestion, Osteomyelitis, Pleural effusio... |
ORPHA:1163 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure... |
ORPHA:444013 |
| Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... |
ORPHA:1897 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F... |
ORPHA:980 |
| Gomez-Lopez-Hernandez Syndrome |
|
Depression, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test... |
OMIM:601853 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Gait disturbance, Testic... |
ORPHA:481 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chronic otitis media, M... |
ORPHA:244 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| 8Q22.1 Microdeletion Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the maxilla, Abnormality ... |
ORPHA:178303 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Death in childhood, Lethargy, Ptosis, Tachypnea |
OMIM:615838 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Thin vermilion border, Hypoplasia of the maxilla, Short philtrum, Premature loss of teeth |
OMIM:156510 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Recurrent res... |
OMIM:620197 |
| Martsolf Syndrome 1 |
|
Cryptorchidism, Epicanthus, Talipes equinovarus, Broad fingertip, Microphthalmia, Finger joint hy... |
OMIM:212720 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Obesity, Anteverted nares, Biliary tract abnormality, Epicanthus, Sub... |
ORPHA:3191 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short nose |
OMIM:302950 |
| Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insuffic... |
ORPHA:36234 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Choanal atresia, Aplasia/Hypoplasia involving the nose, Inguinal hernia, Abnormality of the sense... |
ORPHA:1135 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting,... |
ORPHA:90794 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophi... |
OMIM:129900 |
| Stormorken Syndrome |
|
Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Short philtrum |
OMIM:185070 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Hellp Syndrome |
|
Generalized edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin conce... |
ORPHA:244242 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Long philtrum, Cryptorchidism, Hypertelorism, Short nose |
ORPHA:93328 |
| Microphthalmia, Syndromic 13 |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:300915 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Motor stereotypy, Chronic ot... |
ORPHA:819 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short distal phalanx of finger, Rhizomelia, Broad nasal tip, Growth delay, Failure to thrive, Sma... |
OMIM:614813 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Abnorm... |
ORPHA:314655 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Long philtrum, Downslanted palpebral fissures, Telecanthus, Narrow mouth, Hypert... |
OMIM:615539 |
| Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia |
OMIM:613517 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Telecanthus, Thin upper lip vermilion, Hypogonadotropic hypogonadism, Hypertelorism, Abn... |
ORPHA:1295 |
| Satoyoshi Syndrome |
|
Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short me... |
OMIM:600705 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Bronchiectasis, Decreased ... |
ORPHA:477814 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long penis, Preaxial foot polydactyly, Upslanted palpebral fissu... |
ORPHA:1988 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:195 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Microglossia, Occipital encephalocele, Toe syndactyly, Renal dysplasia, P... |
OMIM:241800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Telecanthus, Rieger anomaly, Ma... |
OMIM:109120 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Megacystis, Polyuria, Short stature, Diabetes insipidus, Hypertoni... |
OMIM:304800 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria, Short statur... |
OMIM:125800 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Preaxial hand polydactyly, Thyroid carcinoma, Penile freckling, Hepatic s... |
ORPHA:210548 |
| Premature Aging Syndrome, Penttinen Type |
|
Proptosis, Failure to thrive, Delayed eruption of teeth, Narrow nose, Prominent nasal bridge, Hyp... |
OMIM:601812 |
| 46,Xy Sex Reversal 5 |
|
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... |
OMIM:613080 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Decreased muscle mass, Postnatal growth retardation, Cryptorchidis... |
OMIM:248700 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital d... |
OMIM:312870 |
| Maternal Phenylketonuria |
|
Wide nasal bridge, Long philtrum, Bilateral ptosis, Anteverted nares, Hypotelorism, Epicanthus, D... |
ORPHA:2209 |
| Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia, Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Absent radi... |
OMIM:251230 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic... |
OMIM:615451 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Sparse eyelashes, Blepharophimosis, Microphthalmia, Dep... |
OMIM:613451 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Sparse lateral eyebrow, Anteverted nares, Upslanted palpebral fissure, Knee flexion contracture, ... |
OMIM:619694 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Optic nerve hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Urete... |
OMIM:617914 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... |
ORPHA:276 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal eating behavior, Ventricular septal defect, Atrial septal defect, Ataxia, Hypoparathyroi... |
ORPHA:209905 |
| Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Decreased circulating IgG level, Insulin insensitivity, Hypogonad... |
OMIM:602668 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma, Microphthalmia |
OMIM:613094 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Genu valgum, Hypomature enamel, Hematuria, Macroscopic hematuria, Short m... |
OMIM:248250 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyebrow, Carious teeth, Keratitis, Sparse eyelashes, Enamel hypoplasia, Conjunct... |
OMIM:612843 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Epicanthus, Lethargy, Failure to thrive |
OMIM:250620 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Hyperaldosteronism, Renal sodium wasting, Salt craving, Poly... |
OMIM:612780 |
| Kapur-Toriello Syndrome |
|
Retinal coloboma, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Hyp... |
OMIM:244300 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... |
ORPHA:277 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Postnatal growth r... |
OMIM:614732 |
| Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... |
ORPHA:2552 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Wide mouth, Cryptorchidism, Epicanthus, Ptosis, Everted lower lip vermilio... |
ORPHA:1912 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... |
OMIM:620565 |
| Neovascular Glaucoma |
|
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... |
ORPHA:94058 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Natal tooth, Dental crowding, L... |
OMIM:145420 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Prominent eyelashes, Failure to thrive, Long philtrum, Prominent nasal bridge,... |
OMIM:619179 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Short distal phalanx of finger, Hypoglycemia, Umbilical herni... |
OMIM:616638 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Choanal atresia, Broad alveolar ridges, Cleft lip, Annular pancreas, Downslanted palpebral fissur... |
OMIM:616975 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Micropenis, Abnormality o... |
ORPHA:168569 |
| Meckel Syndrome 12 |
|
Wide nasal bridge, Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral r... |
OMIM:616258 |
| Coccidioidomycosis |
|
Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the female genitalia, Abnor... |
ORPHA:228123 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hamartoma of the orbital region, Recurrent upper respiratory tract infections, Sparse eyebrow, Bi... |
ORPHA:2399 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Wide nasal bridge, Cataract, Conical tooth, Dental malocclusion, Unilateral narrow palpebral fiss... |
OMIM:618727 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Abnormality of the uterus, Umbilical hernia, Downslanted palpebral fissur... |
ORPHA:2143 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni... |
ORPHA:411593 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cleft lip, Upslanted palpebral fissure, Cryptorchidism, Hypotelorism, Hypertelorism, Cleft palate |
OMIM:619123 |
| Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, High palate, Epicanthus, ... |
ORPHA:33110 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Hernia, Bicuspid aortic valve, T... |
ORPHA:261494 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Myopathy, Polycystic ovaries, Dysmenorrhe... |
ORPHA:79083 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Abnormal heart morphology, Azoospermia, Decreased circulating antibody ... |
ORPHA:1445 |
| Coffin-Siris Syndrome |
|
Wide nasal base, Clinodactyly, Aspiration pneumonia, Postnatal growth retardation, Cryptorchidism... |
ORPHA:1465 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Proptosis, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Antever... |
ORPHA:1790 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cryptorchi... |
OMIM:607143 |
| Ring Chromosome 22 Syndrome |
|
Wide nasal base, Inappropriate behavior, Lymphedema, Bulbous nose, Azoospermia, Thick eyebrow, Ga... |
ORPHA:1446 |
| Cocaine Intoxication |
|
Acute kidney injury, Diffuse alveolar hemorrhage, Rhabdomyolysis, Hematuria, Proteinuria, Pulmona... |
ORPHA:90068 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Failure ... |
ORPHA:1329 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... |
OMIM:609441 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Prominent eyelashes, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Bulbous no... |
OMIM:616420 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Intrauterine growth retardation, Prominent nose, Death in childhood, Con... |
OMIM:610756 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Intrauterine growth retardation, Oligohydramnios, Aplasia/Hypoplas... |
ORPHA:2145 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Sparse or absent eyelashes, Narr... |
ORPHA:1234 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia, Ptosis |
ORPHA:101150 |
| Edinburgh Malformation Syndrome |
|
Choanal atresia, Slender finger, Ulnar deviation of finger, Failure to thrive, Anteverted nares, ... |
ORPHA:1895 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Sit... |
OMIM:613807 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Abnormality of the dentition, Proptosis, Dental malocclusion, Long philtr... |
OMIM:616331 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph... |
OMIM:251750 |
| Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... |
OMIM:241200 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, Failure to thrive, Intrauterine growth retardation, Buphthalmos, Limb undergro... |
OMIM:618005 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Narrow mouth, Short nose, Deeply set eye |
OMIM:616459 |
| Tetrasomy 9P |
|
Small hand, Systemic lupus erythematosus, Absent gallbladder, Cryptorchidism, Abnormal mitral val... |
ORPHA:3310 |
| Nail-Patella Syndrome |
|
Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the femoral medi... |
OMIM:161200 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Long philtrum, Absent gallbladder, Hypotelorism, Neonatal death, Epicanth... |
OMIM:618500 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Downslanted palpebral fissures, Prominent nose, Leukopenia, Glue ear, Vent... |
OMIM:620184 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Polydipsi... |
ORPHA:18 |
| Mosaic Trisomy 9 |
|
Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Talipes equinovarus, Atria... |
ORPHA:99776 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Highly arched eyebrow, Postaxial foot pol... |
ORPHA:404440 |
| Wolfram Syndrome 1 |
|
Hydroureter, Growth delay, Cardiomyopathy, Limited mobility of proximal interphalangeal joint, Si... |
OMIM:222300 |
| Tetrasomy 18P |
|
Long philtrum, Downslanted palpebral fissures, Narrow mouth, Epicanthus, Thin vermilion border, S... |
ORPHA:3307 |
| Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Lethargy, Macroglossia |
ORPHA:95717 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Growth dela... |
ORPHA:411634 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Epicanthus, Ptosis |
ORPHA:2662 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... |
OMIM:240500 |
| Bresek Syndrome |
|
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Agang... |
ORPHA:85284 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Duodenal stenosis, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Aspiration pneumonia, Intrauterine growth retardation, O... |
OMIM:618253 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl... |
OMIM:602522 |
| Marshall Syndrome |
|
Wide nasal bridge, Cataract, Sparse eyebrow, Hypoplasia of the maxilla, Ectopia lentis, Hypoplasi... |
ORPHA:560 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ... |
ORPHA:436159 |
| Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Underdeveloped nasal alae, Sparse eyelashes, Upper eyelid coloboma, Absent eye... |
OMIM:613456 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Chronic ... |
OMIM:615504 |
| Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Xerostomia, Cryptorchidism, Keratoconjunctivitis, Abnormal lacrimal gland morpholo... |
ORPHA:2363 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short nose |
OMIM:245570 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Achondrogenesis Type 1B |
|
Micromelia, Umbilical hernia, Anteverted nares, Talipes equinovarus, Short foot, Aplasia/Hypoplas... |
ORPHA:93298 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Depressed nasal bridge, Respiratory distress, Death in infancy, Lethargy, High palate |
OMIM:604377 |
| Achondrogenesis |
|
Micromelia, Umbilical hernia, Anteverted nares, Aplasia/Hypoplasia of the lungs, Polyhydramnios, ... |
ORPHA:932 |
| Holoprosencephaly 9 |
|
Cryptorchidism, Bilateral cleft palate, Epicanthus, Short hard palate, Anterior pituitary hypopla... |
OMIM:610829 |
| Ring Chromosome 10 Syndrome |
|
Wide nasal bridge, Sandal gap, Downslanted palpebral fissures, Intrauterine growth retardation, A... |
ORPHA:1438 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Hypogonadism, Deeply set eye, Thin vermilion border, Short philtrum,... |
ORPHA:2983 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... |
OMIM:619859 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... |
OMIM:602782 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ... |
OMIM:618254 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... |
OMIM:618459 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Downslanted palpebral fissures, Bulbous nose, Thrombocytopenia, Microphthalmia, Cle... |
OMIM:619981 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE... |
OMIM:606367 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Macroglossia, Downslanted palpebral fissures, Bulbous nose, Tented upper ... |
ORPHA:261144 |
| Coffin-Siris Syndrome 12 |
|
Velopharyngeal insufficiency, Cryptorchidism, Deeply set eye, Epicanthus, Prominent nasal tip, Na... |
OMIM:619325 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... |
OMIM:615482 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
High palate, Hypotelorism |
OMIM:619053 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... |
OMIM:619436 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... |
ORPHA:528 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Depressed nasal bridge, Bilateral ptosis, Anteverted nares, Open mouth, Hypotelorism, Epicanthus,... |
OMIM:619743 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakness, Respiratory tr... |
OMIM:218000 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Choanal atresia, Highly arched eyebrow, Dental crowding, Downturned corners of mouth, Downslanted... |
OMIM:301044 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Cryptorchidism, Lethargy, Tachypnea, Hypertelorism |
OMIM:614857 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... |
OMIM:615500 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Atrial septal defect, Retinal dystrophy, Ventricular septal defect |
ORPHA:49827 |
| Distal Deletion 9P |
|
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Proptosis, Upslanted palpeb... |
ORPHA:1642 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn... |
OMIM:618419 |
| Vici Syndrome |
|
Depressed nasal bridge, Failure to thrive, Everted upper lip vermilion, Long philtrum, Cleft uppe... |
OMIM:242840 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Ventricul... |
OMIM:146510 |
| Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, 2-3 finger syndactyly, Atrial septal defect, Microphthalmia, Duodenal atresia, Pa... |
OMIM:603467 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Foot joint contracture, Exocrine pancreatic insufficiency, Aplasia... |
ORPHA:456312 |
| C Syndrome |
|
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Cryptorchidism, V... |
OMIM:211750 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyper... |
ORPHA:403 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226650 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Lethargy, Impotence |
ORPHA:79230 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Distal amyotrophy, Difficulty walking, Delayed menarche, Hypogonadism, ... |
ORPHA:412057 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Large for... |
OMIM:605309 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... |
ORPHA:91349 |
| Warburg Micro Syndrome 4 |
|
Small scrotum, Decreased muscle mass, Inability to walk, Decreased testicular size, Anteverted na... |
OMIM:615663 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Gait ataxia, Cryptorchidism, 3-Methylglutaconic aciduria, Upslanted ... |
ORPHA:496790 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Epicanthus, Agyria, Duodenal atresia, Short nose, ... |
OMIM:247200 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Ankyloblepharon, Underdeveloped nasal alae, Cleft upper lip, Midline defect of the n... |
OMIM:229400 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Tooth malposition, Broad nasal tip, Prominent nasal bridge, Cryptorchidism, Hypotelorism, Deeply ... |
OMIM:616541 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Nephrotic sy... |
OMIM:603909 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Situs ... |
OMIM:612650 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Cirrhosis, Gastric varix, Panacinar emphysema, Bronchiectasis, ... |
OMIM:613490 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Lacrimal duct aplasia, Lacrimal duct atresia, Absent lacrimal punct... |
OMIM:620192 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... |
OMIM:611134 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Failure to thrive, Decreased body weight |
OMIM:620085 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:913 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Short palpebral fissure, Downslanted palpebral fissures,... |
ORPHA:284169 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Abnormal tibia morphology, Abnormal hi... |
ORPHA:2639 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Ruvalcaba Syndrome |
|
Small hand, Synostosis of carpal bones, Micromelia, Downslanted palpebral fissures, Intrauterine ... |
ORPHA:3121 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancr... |
OMIM:618805 |
| Galloway-Mowat Syndrome 9 |
|
Hiatus hernia, Hypotelorism, Almond-shaped palpebral fissure, Hypertelorism |
OMIM:619603 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Abdominal situs ambiguus, Situs inversus to... |
OMIM:617092 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Recurrent lower resp... |
OMIM:620282 |
| Solitary Fibrous Tumor |
|
Uterine neoplasm, Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Vaginal neoplasm, Prostate c... |
ORPHA:2126 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Lethargy, Ptosis, Hypogonadism |
ORPHA:254913 |
| Semilobar Holoprosencephaly |
|
Depressed nasal ridge, Bifid uvula, Depression, Failure to thrive, Proboscis, Decreased response ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Depressed nasal ridge, Bifid uvula, Depression, Failure to thrive, Proboscis, Decreased response ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depressed nasal ridge, Bifid uvula, Depression, Failure to thrive, Proboscis, Decreased response ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Depressed nasal ridge, Bifid uvula, Depression, Failure to thrive, Proboscis, Decreased response ... |
ORPHA:93924 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... |
OMIM:609734 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Death in childhood |
OMIM:246900 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Depression, Increased circulating prolactin concentration, Hypotelorism, Primary amenorrhea, High... |
ORPHA:502423 |
| Waardenburg Syndrome Type 1 |
|
Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Telecanthus, Thick eyebrow, Tented... |
ORPHA:894 |
| Nablus Mask-Like Facial Syndrome |
|
Narrow mouth, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Blepharophimosis, Everted lower... |
OMIM:608156 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... |
OMIM:619510 |
| Wilson Disease |
|
Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Difficulty walking, Abnorm... |
ORPHA:905 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Small scrotum, Short palpebral fissure, Highly arched eyebrow, Underdeveloped nasal alae, Camptod... |
ORPHA:2083 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Metrorrhagia, Abnorma... |
ORPHA:314478 |
| Endocrine-Cerebroosteodysplasia |
|
Wide nasal bridge, Ankyloblepharon, Natal tooth, Thick upper lip vermilion, Depressed nasal tip, ... |
OMIM:612651 |
| Achondrogenesis Type 1A |
|
Micromelia, Umbilical hernia, Anteverted nares, Short foot, Aplasia/Hypoplasia of the lungs, Shor... |
ORPHA:93299 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... |
ORPHA:2308 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic... |
ORPHA:231736 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hydrometrocolpos, Recurrent otitis media, Bicuspid aortic valve, Short metacarpal, Cone-shaped ep... |
OMIM:150230 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... |
ORPHA:47159 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Microphthalmia, Duplicated co... |
OMIM:227650 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion... |
OMIM:619854 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophi... |
OMIM:604292 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:363417 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypospad... |
ORPHA:397590 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Camptodactyly of finger, Failure to thrive in infancy, Abnormal heart m... |
OMIM:610758 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Long palpeb... |
ORPHA:163649 |
| Lassa Fever |
|
Menometrorrhagia, Facial edema, Oliguria, Jaundice, Conjunctivitis, Increased circulating IgM lev... |
ORPHA:99824 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy, Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
| Microphthalmia, Isolated 8 |
|
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... |
OMIM:615113 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ... |
OMIM:600802 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... |
OMIM:618048 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Ileal atresia, Streak ovary, Cryptorchidism, Aplasia of the nasal bone, Epi... |
OMIM:618820 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Obesity, Open mouth, Tented up... |
OMIM:618430 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Finger swelling, Recurrent otitis media, Micro... |
OMIM:256040 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim... |
OMIM:620135 |
| Distal Duplication 18Q |
|
Choanal atresia, Deviation of finger, Camptodactyly of finger, Abnormal female external genitalia... |
ORPHA:1716 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Ventricular septal defect, Epicanthus, Neutropenia, Absent radius, ... |
OMIM:227645 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Short palpebral fissure, Downturned corners of mouth, Anteriorly placed a... |
OMIM:217980 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Depression, Obesity, Focal sensory seizure with olfactory features |
ORPHA:238624 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... |
OMIM:193670 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Proptosis, Anteverted nares, Hypertelorism, Short nose |
OMIM:618961 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Micropenis, Blepharophimosis, Neutropenia, Microphthalmia, Duplicat... |
OMIM:227646 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... |
OMIM:612649 |
| Bloom Syndrome |
|
Postnatal growth retardation, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Decre... |
OMIM:210900 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Cleft lip, Horizontal eyebrow, Downturned corners of mouth, Long philtrum, Bul... |
OMIM:618571 |
| Viss Syndrome |
|
Increased circulating IgE level, Cleft soft palate, Genu valgum, Mitral valve prolapse, Ventricul... |
OMIM:619472 |
| Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... |
OMIM:610984 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Depression, Failure to thrive, Downturned corners of mouth, Obesity, Antev... |
ORPHA:96147 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnor... |
ORPHA:411629 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Thin upper lip vermilion, Smooth philtrum, Slender nose, Wide mouth, Short nose |
OMIM:615419 |
| Down Syndrome |
|
Decreased fertility, Type II diabetes mellitus, Protruding tongue, Ventricular septal defect, Ren... |
ORPHA:870 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Microphthalmia, Buphthalmos, Iris co... |
OMIM:212550 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Benign Schwannoma |
|
Abnormal esophagus morphology, Nasal polyposis, Intestinal polyposis, Abnormal parotid gland morp... |
ORPHA:252164 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Lethargy |
OMIM:610006 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect |
OMIM:614954 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Failure to thrive, Long eyelashes, Thick eyebrow, Tented upper lip vermil... |
OMIM:619833 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Wide nasal bridge, Highly arched eyebrow, Proptosis, Underdeveloped nasal alae, Widely spaced tee... |
OMIM:615803 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infect... |
OMIM:608644 |
| Cornelia De Lange Syndrome 1 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic labia maj... |
OMIM:122470 |
| Goldberg-Shprintzen Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Downslanted palpebral fissur... |
OMIM:609460 |
| Evans Syndrome |
|
Epistaxis, Autoimmune hemolytic anemia, Lethargy, Neutropenia in presence of anti-neutropil antib... |
ORPHA:1959 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Facial palsy, Erythema nodosum, Clubbing... |
OMIM:612387 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... |
OMIM:220210 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... |
ORPHA:2831 |
| Deafness, X-Linked 7 |
|
Wide nasal bridge, Unilateral microphthalmos, Thick eyebrow, Telecanthus, Ptosis |
OMIM:301018 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Failure to thrive, Sandal gap, Intestinal malrotation, Narrow nose, Intrauterine growth retardati... |
OMIM:617602 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Downturned corners of mouth, Retrogna... |
ORPHA:2409 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Epicanthus, Blepharophimosis, Anterior pituitary hypop... |
OMIM:613457 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive |
ORPHA:28 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Upper limb muscle weakness, Lower limb muscle weakness, Aspira... |
ORPHA:90117 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hyp... |
OMIM:610628 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Epicanthus, Short palpebral fissure, Upslanted palpebral fissure, Hypotelorism |
ORPHA:2163 |
| Leopard Syndrome 1 |
|
Cryptorchidism, Aplasia of the ovary, Mitral valve prolapse, Epicanthus, Hypospadias, Depressed n... |
OMIM:151100 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Neu... |
OMIM:604250 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Occipital encephalocele, Cardiomyopathy, Coloboma, Retinal detachment, Hydrocephal... |
ORPHA:370959 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy, Goiter |
OMIM:274400 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Cryptorchidism, Congenital diaphragmati... |
ORPHA:199 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Polydipsia, Stage 5 chr... |
OMIM:256100 |
| Li-Campeau Syndrome |
|
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Micropenis... |
OMIM:619189 |
| Verheij Syndrome |
|
Wide nasal bridge, Short 5th finger, Broad nasal tip, Branchial cyst, Clinodactyly, Intrauterine ... |
OMIM:615583 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Narrow palate, Decreased muscle mass, Polymicrogyria, Inability to walk, Decreased... |
OMIM:614222 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Choanal atresia, Downslanted palpebral fissures, Respiratory distress, Anteverted nares, Telecant... |
OMIM:610536 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... |
ORPHA:93126 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Epicanthus, 2-3 finger syndactyly, Atria... |
ORPHA:435638 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Hypogonadism, Absence of subcutaneous fat, Death in infancy, Int... |
OMIM:601675 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature |
ORPHA:3063 |
| Degcags Syndrome |
|
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegal... |
OMIM:619488 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital bilateral ptosis, Congenital diaphragma... |
ORPHA:1692 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proxima... |
ORPHA:435660 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Postnatal growth retardation, Self-biting, Ataxia, Urinary incontinence, Long nose, Moto... |
OMIM:300912 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Absent gallbladder, Hypotelorism, Solitary median maxillary ce... |
ORPHA:556955 |
| Deeah Syndrome |
|
Overlapping fingers, Cryptorchidism, Decreased circulating free T3, Decreased body weight, Death ... |
OMIM:619004 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening |
OMIM:241310 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:79312 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Oligomenorrhea, Infertility, Acne |
OMIM:604931 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... |
ORPHA:486 |
| Joubert Syndrome 14 |
|
Optic atrophy, Encephalocele, Ventricular septal defect, Coloboma, Hydrocephalus, Microphthalmia,... |
OMIM:614424 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Mandibular prognathia |
ORPHA:1885 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Long eyelashes, Narrow nasal bridge, Thick eyebrow, Spina bifida occulta, Shor... |
ORPHA:1514 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Downslanted palpebral fissures, Intestinal malrotation, Cryptorchidism, Hypotelorism, Epicanthus,... |
OMIM:617798 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Deeply set eye, Epicanthus, Hypertelorism, High palate, Short palpebral fissure, Bulbous nose, Th... |
OMIM:612474 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Talipes equinovarus, Disproportionate s... |
OMIM:242900 |
| Desmosterolosis |
|
Renal hypoplasia/aplasia, Epicanthus, Patent ductus arteriosus, Short nose, Renal agenesis, Abnor... |
ORPHA:35107 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Oral aversion, Ventricular... |
ORPHA:354 |
| Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
| Al Amyloidosis |
|
Xerostomia, Weight loss, Macroglossia, Abnormal salivary gland morphology, Autonomic erectile dys... |
ORPHA:85443 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Short toe, Abnormal femur morphology, Bowing of the long ... |
ORPHA:429 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Decreased response to growt... |
OMIM:307200 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Common Variable Immunodeficiency |
|
Pneumonia, Chronic otitis media, Emphysema, Failure to thrive in infancy, Abnormality of the live... |
ORPHA:1572 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Anteverted nares, Telecanthus, Congenital diaphragmatic hernia, ... |
ORPHA:1915 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Nasal congestion, Recurrent otitis media, Situs inversus totalis, Chronic sinusi... |
OMIM:616037 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Supernumerary nipple, Downslanted palpebral fissures, Abnormal dental ena... |
ORPHA:1812 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Microgna... |
ORPHA:2479 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Depressed nasal bridge, Wide nasal bridge, Umbilical hernia, Arthritis, Lacrimal duct ... |
OMIM:613328 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Hypotelorism |
OMIM:604757 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Metap... |
OMIM:615139 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Dilated cardiomyopathy, Encephalocele, Retinal detachment, Atrial septal defect, T... |
OMIM:253800 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Tetrasomy 5P |
|
Wide nasal bridge, Failure to thrive, Anteverted nares, Overlapping toe, Upslanted palpebral fiss... |
ORPHA:3309 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Temtamy Syndrome |
|
Short toe, Telecanthus, Brachydactyly, Convex nasal ridge, Microphthalmia, Clinodactyly of the 5t... |
ORPHA:1777 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... |
OMIM:616576 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Death in childhood, Decreased body weight, Hepatomegaly, High palate, Motor stere... |
OMIM:619005 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Epic... |
OMIM:213980 |
| Autosomal Recessive Omodysplasia |
|
Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Pterygium, Anteverted nares, Increased... |
ORPHA:93329 |
| Alg12-Cdg |
|
Recurrent hypoglycemia, Biventricular hypertrophy, Overlapping fingers, Abnormal circulating IgG ... |
ORPHA:79324 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Anophthalmia, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Microphthalm... |
ORPHA:77298 |
| Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge, Mandibular prognathia, Cleft upper lip, Long eyelashes, Malar flattening, Iris... |
OMIM:201180 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Ptosis, Conjunctivitis, Narrow palate, Iris coloboma |
ORPHA:207 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, D... |
ORPHA:280679 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Bronchi... |
OMIM:620032 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agitation, Ventric... |
OMIM:613870 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Intrauterine growth retardat... |
OMIM:619321 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Carpal s... |
ORPHA:93320 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dys... |
ORPHA:2348 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Limb muscle weakness, Calf muscle hypertrophy, Testicular atrophy, Dysphagia |
OMIM:313200 |
| Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased testicular size, P... |
ORPHA:95619 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Downturned corners of mouth, Anteriorl... |
OMIM:239300 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po... |
ORPHA:781 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
| X-Linked Intellectual Disability, Porteous Type |
|
Short philtrum, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93945 |
| Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating re... |
ORPHA:231580 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... |
OMIM:619773 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Inflammation of the large intestine, Oral leukoplakia, Hypotelorism, Pancolitis, Esophageal stric... |
OMIM:620133 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Prominent fingertip pads, Supernumerar... |
OMIM:620098 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal ... |
OMIM:145350 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... |
OMIM:615767 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short philtrum, Tented upper lip vermilion, Short nose |
ORPHA:85277 |
| Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infec... |
OMIM:612783 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Sparse lateral eyebrow, Downslanted palpebral fissure... |
OMIM:277000 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... |
OMIM:614868 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Difficulty walking, Overlapping t... |
ORPHA:464738 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Broad-based gait, Dilatation of the renal pelvis, Short 5th toe, Cleft sof... |
ORPHA:268261 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Epicanthus, Talipes equinovarus, Atria... |
ORPHA:567 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... |
OMIM:613677 |
| Oculofaciocardiodental Syndrome |
|
Bifid nasal tip, Peripheral pulmonary artery stenosis, Highly arched eyebrow, Short thumb, Intest... |
ORPHA:2712 |
| Dubowitz Syndrome |
|
Aplastic anemia, Velopharyngeal insufficiency, Postnatal growth retardation, Cryptorchidism, Epic... |
OMIM:223370 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Increased circulating antibody level, Weight loss,... |
ORPHA:2905 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi... |
ORPHA:261272 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Rhinitis... |
OMIM:615505 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Micromelia, Polysplenia, Ascites, Hypoplastic colon, Upslanted palpebral fissur... |
OMIM:200995 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Proptosis, Narrow mouth, Short nose, Cleft palate |
OMIM:614078 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
| 20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Proptosis, Tented philtrum, Downslanted palpebral fiss... |
ORPHA:363659 |
| Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusiti... |
ORPHA:449280 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... |
OMIM:619752 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Bronchiectasis, Recurrent respiratory infections, Recurrent otitis media, Situs ... |
OMIM:615444 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
| Nijmegen Breakage Syndrome |
|
Recurrent otitis media, Recurrent bronchitis, Epicanthus, Premature ovarian insufficiency, Anal a... |
OMIM:251260 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t... |
OMIM:601859 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Broad columella, Failure to thrive, Downturned cor... |
OMIM:617865 |
| 1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Epicanthus, Talipes equinovarus, Micr... |
ORPHA:250989 |
| Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Ptosis, Mandibular prognathia, Abnormal palate morphology |
ORPHA:1540 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Median cleft palate, Upslanted palpebral fissure, Cryptorchidism, Hypotelorism, ... |
OMIM:264480 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... |
OMIM:300942 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Proptosis, Downturned corners of mouth, Anteverted nares, Epicanthus, Ptosis, Thick vermilion bor... |
ORPHA:1185 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Sparse lateral eyebrow, Thick vermilion border |
ORPHA:363523 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Dextrotransposition of the great arteries,... |
OMIM:618619 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea, Shallow orbits, Short nose, Downslanted palpebral fissures |
ORPHA:1129 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... |
ORPHA:268 |
| Microphthalmia, Syndromic 8 |
|
Short palpebral fissure, Split foot, Cryptorchidism, Blepharophimosis, Microphthalmia, Cleft palate |
OMIM:601349 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Hypoplastic pelvis, Short clavicles, Bowed humerus |
OMIM:618022 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Overlapping toe, Streak ovary, Overlapping fingers, Radioulnar synosto... |
ORPHA:798 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Intestinal malrotation, Anteverted nares, Congenital diaphragmatic hernia, Syndac... |
OMIM:601163 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased urinary urate, Recurrent upper respiratory tract infections, Decreased lymph... |
OMIM:613179 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Systemic Lupus Erythematosus |
|
Anti-Sm antibody positivity, Hematuria, Weight loss, Decreased circulating complement C4 concentr... |
ORPHA:536 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Epicanthus, Micropeni... |
OMIM:257300 |
| 3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Dilated cardiomyopathy, Decreased testicular size, Intrauterine growth retardation... |
OMIM:610198 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Ectopia lentis, Dental crowding, Chorioretinal coloboma, Downslanted palpe... |
OMIM:218340 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Scalp-Ear-Nipple Syndrome |
|
Depressed nasal bridge, Bifid uvula, Breast aplasia, Agenesis of permanent teeth, Anteverted nare... |
OMIM:181270 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane... |
ORPHA:163966 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinoph... |
OMIM:618523 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Atrial septal defect, Motor stereotypy, Short nose, Short palpebral fi... |
OMIM:301030 |
| Beaulieu-Boycott-Innes Syndrome |
|
Short palpebral fissure, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Microg... |
OMIM:613680 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... |
OMIM:616276 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... |
OMIM:102700 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Microphth... |
ORPHA:534 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Glossitis, Epicanthus, Lethargy, Tracheoesophageal fistula, Thin upper lip ver... |
OMIM:277380 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, High, narrow palate, Microcornea, Delayed eruption of teeth, Macrodontia, ... |
ORPHA:3214 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed hypers... |
OMIM:301000 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Recurrent sinusitis, Otitis media |
OMIM:618781 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Hip dislocation |
ORPHA:1508 |
| Fryns Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, B... |
OMIM:229850 |
| Citrullinemia Type I |
|
Lethargy, Tachypnea, Failure to thrive |
ORPHA:247525 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibro... |
OMIM:178600 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Proptosis, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tongue,... |
ORPHA:561 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Polyd... |
OMIM:613550 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Low hangi... |
OMIM:619318 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Brachydactyly, Cuboidal met... |
ORPHA:968 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Sparse eyebrow, Carious teeth, Hypoplasia of the maxilla, Velopharyngeal insufficien... |
OMIM:129400 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Recurrent otitis media, Abdominal situs ambiguus, Situs inversus totalis, Chron... |
OMIM:614874 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... |
OMIM:604571 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Abnormality of the kidney, Ataxia, Foot polydactyly, High palate, Sho... |
OMIM:209900 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Upslanted palpebra... |
OMIM:614749 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly, Se... |
OMIM:613313 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth, Sho... |
OMIM:619356 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... |
OMIM:613808 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Renal agenesis, Leukemia, Short thumb, Horseshoe kidney, Abnormal heart morphology,... |
OMIM:600901 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia |
ORPHA:2248 |
| Toriello-Lacassie-Droste Syndrome |
|
Short palpebral fissure, Proptosis, Failure to thrive, Anteverted nares, Telecanthus, Eyelid colo... |
ORPHA:3339 |
| Kallmann Syndrome |
|
Decreased fertility, Cryptorchidism, Primary amenorrhea, Ataxia, Renal agenesis, Abnormal morphol... |
ORPHA:478 |
| Micro Syndrome |
|
Lissencephaly, Abnormal localization of kidney, Wide nasal bridge, Intrauterine growth retardatio... |
ORPHA:2510 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:250940 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Death in infancy |
OMIM:619386 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect |
OMIM:620203 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Clubbing... |
ORPHA:79127 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Rhizomelia, Abnormal metaphysis morphology, Ventricular septal defect, Bowing ... |
ORPHA:93267 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Astigmatism, Oligodontia, Upper eyelid c... |
ORPHA:2095 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Death in adolescence, Abnormal l... |
OMIM:615468 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... |
ORPHA:2788 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista... |
OMIM:300863 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Lethargy, Increased circulating procalcito... |
ORPHA:36238 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Atelectasis, Situs inversus totalis, Recurre... |
OMIM:244400 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy, Hepatic ste... |
OMIM:613877 |
| Meier-Gorlin Syndrome 6 |
|
Depressed nasal ridge, Depressed nasal bridge, Failure to thrive, Underdeveloped nasal alae, Umbi... |
OMIM:616835 |
| 3Q29 Microdeletion Syndrome |
|
Abnormality of the dentition, Depression, Dental crowding, Failure to thrive, Downslanted palpebr... |
ORPHA:65286 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Recurrent s... |
OMIM:608647 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Lethargy, Tachypnea, Death in infancy |
OMIM:614299 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... |
OMIM:618160 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... |
ORPHA:2357 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Lissencephaly 8 |
|
Optic atrophy, Occipital encephalocele, Microphthalmia |
OMIM:617255 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus, ... |
ORPHA:2578 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Narrow mouth, Cryptorchidism, Deeply set eye, Sparse eyelashes, Absent eyelashes, Ab... |
OMIM:264090 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Anterior open-b... |
OMIM:617877 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Ascites, Intrauterine growth retardation, Anteverted nares, Hepatosplenom... |
OMIM:608013 |
| Klippel-Trénaunay Syndrome |
|
Cellulitis, Abnormality of the menstrual cycle, Ascites, Microcytic anemia, Abnormal tricuspid va... |
ORPHA:90308 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Downslanted palpebral fissures, Anteverted nares, Long eyelashes, Narrow ... |
ORPHA:357001 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Increased body weight, Myoglobi... |
ORPHA:264580 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... |
ORPHA:91 |
| Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Micropenis, Dysphagia, Choreoathetosis |
OMIM:308350 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:261243 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Thick nasal alae, Episodic tachypnea, Apneic episodes in infancy, Hypertelor... |
ORPHA:163961 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Epicanthus, Atrial septal defect, Anal atresia, High palate, Ren... |
OMIM:614080 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Dental crowding, Downslanted palpebral fissures, Choanal... |
OMIM:101600 |
| Seckel Syndrome 2 |
|
Microglossia, Growth delay, Prominent nose, Ectopic kidney, Microphthalmia, Short stature, Clinod... |
OMIM:606744 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Dextrocardia... |
OMIM:614679 |
| Chops Syndrome |
|
High, narrow palate, Aspiration pneumonia, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesic... |
OMIM:616368 |
| Hyperlysinemia |
|
Depressed nasal ridge, Failure to thrive, Thin eyebrow, Hypotelorism, Smooth philtrum, High palate |
ORPHA:2203 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis, Antevert... |
OMIM:613320 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Wide nasal bridge, Anteriorly placed anus, Absent radius, Intrauterine growth retardation, Upslan... |
ORPHA:1352 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Hypoplasia of the maxilla, Ankyloblepharon, Cleft lip, Conical tooth, Selectiv... |
OMIM:106260 |
| Avian Influenza |
|
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Rhabdomyolysis, Infect... |
ORPHA:454836 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Narrow mouth, Cryptorchidism, Hypotelorism, Orofacial cleft, Anal atresia... |
ORPHA:2166 |
| Nephronophthisis 4 |
|
Nephronophthisis, Growth delay, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullar... |
OMIM:606966 |
| Orofaciodigital Syndrome Xix |
|
Wide nasal bridge, Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, D... |
OMIM:620107 |
| Cohen Syndrome |
|
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... |
ORPHA:193 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Fusariosis |
|
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... |
ORPHA:228119 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Proptosis, Long philtrum, Downslanted palpebral fissures, Anteverted nares, Narr... |
ORPHA:83 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Posterior Y-sutural cataract, Carious teeth, Delayed eruption of teeth... |
ORPHA:50814 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cryptorchidism, Epicanthus, Hypertelorism, Short nose, Cleft lip, Downturned corners of mouth, Lo... |
OMIM:616894 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
ORPHA:927 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Polydipsia, Metacarpal periosteal thickening, Nep... |
OMIM:617994 |
| Trisomy 18 |
|
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Epicanthus, C... |
ORPHA:3380 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Pollakisuria, Weight loss |
ORPHA:95626 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... |
ORPHA:2032 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Absent eyelashes, High palate, Iris coloboma, Blepharospas... |
ORPHA:861 |
| Ohdo Syndrome, X-Linked |
|
Small scrotum, Clinodactyly, Overlapping toe, Cryptorchidism, Long thumb, Decreased body weight, ... |
OMIM:300895 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Short finger, Abnormal heart morphology, Decreased testicular size, External genital h... |
ORPHA:1867 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand... |
OMIM:607597 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Failure to thrive, Aspiration p... |
ORPHA:1018 |
| Trisomy 20P |
|
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Hernia, Epicanthus, Blepharophimosi... |
ORPHA:261318 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Death in infancy, H... |
ORPHA:95496 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... |
OMIM:271500 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Abnormal retinal mor... |
ORPHA:89844 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Hypopituitarism, Anteverted nares, Deeply set eye, Anterior pituitary hyp... |
OMIM:613038 |
| Galloway-Mowat Syndrome |
|
Hiatus hernia, Abnormality of the dentition, Hypotelorism, Hypertelorism |
ORPHA:2065 |
| Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central micro... |
OMIM:617091 |
| Macs Syndrome |
|
Wide nasal bridge, Sparse eyebrow, Umbilical hernia, Downslanted palpebral fissures, Recurrent ap... |
OMIM:613075 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Postnatal growth retardation, Cryptorchidism, Renal... |
ORPHA:709 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia, Microphthalmia |
ORPHA:291 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
| Helix Syndrome |
|
Hyperparathyroidism, Hypocalciuria, Xerostomia, Polydipsia, Renal insufficiency, Nephrolithiasis,... |
OMIM:617671 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Lymphopenia, Cryptorchidism, Atrial septal defect, Blepharophimosis, Microphthalmia, ... |
OMIM:620005 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Hype... |
OMIM:616430 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Clitoral hypertrophy, Recurrent pneumonia, Downslanted palpebral fissures, Furrowed tongue, Antev... |
OMIM:616449 |
| Nicolaides-Baraitser Syndrome |
|
Wide nasal base, Broad 2nd toe, Unilateral narrow palpebral fissure, Cryptorchidism, Absent eyebr... |
OMIM:601358 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Cellulitis, Atopic dermatitis, Recurrent upper respiratory tract infections, Decreased circulatin... |
OMIM:618944 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Ankyloglossia, Microcytic anemia, Hepatic steatosis, Ventricular septal d... |
OMIM:619525 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi... |
OMIM:300755 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyelashes, Talipes equinovarus, Hypoplastic labia majora, Cicatricial lagophthalmos, Absen... |
OMIM:263650 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Wide nasal bridge, Proptosis, Prominent nasal bridge, Narrow mouth, Cryptorchidism, Upslanted pal... |
ORPHA:468631 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormality of globe location, Shallow orbits, Hypotelorism, Steatorrhea |
ORPHA:440713 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Hypogonadism, Decreased circulating antibody level, Erythroid hypoplasia, Anemi... |
OMIM:618165 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hyperaldosteronism, ... |
ORPHA:73224 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Narrow mouth, Cryptorchidism, Protruding tongue, Open mouth, Epicant... |
OMIM:200990 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... |
OMIM:101800 |
| Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Female infertility, Goiter |
OMIM:617577 |
| Ritscher-Schinzel Syndrome 3 |
|
Chorioretinal coloboma, Atrioventricular canal defect, Cryptorchidism, Death in infancy, Micropht... |
OMIM:619135 |
| Multifocal Atrial Tachycardia |
|
Lethargy, Tachypnea, Cryptorchidism |
ORPHA:3282 |
| Codas Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... |
ORPHA:1458 |
| Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... |
ORPHA:31202 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Weight loss, Failure to thrive |
OMIM:143880 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Pallister-Hall Syndrome |
|
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol... |
ORPHA:672 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Anteverted nares, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Accessory oral frenulum |
OMIM:619142 |
| Sotos Syndrome |
|
Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Increased body weight, ... |
OMIM:117550 |
| Odontochondrodysplasia |
|
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Respiratory distres... |
ORPHA:166272 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries... |
ORPHA:2795 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:212140 |
| Timothy Syndrome |
|
Pneumonia, Depressed nasal bridge, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... |
OMIM:601005 |
| Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... |
OMIM:619652 |
| Lujan-Fryns Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Short phi... |
ORPHA:776 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... |
OMIM:616100 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Advanced ossific... |
OMIM:251450 |
| Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Wide nose, Wide mouth, Epicanthus... |
ORPHA:1394 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Proptosis, Downslanted palpebral fissures, Abnormal dental enamel morphology... |
ORPHA:3258 |
| Short Syndrome |
|
Insulin resistance, Wide nasal bridge, Clinodactyly, Insulin-resistant diabetes mellitus, Underde... |
OMIM:269880 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... |
ORPHA:1507 |
| Silver-Russell Syndrome 3 |
|
Postnatal growth retardation, Ambiguous genitalia, Penoscrotal hypospadias, Short stature, Unilat... |
OMIM:616489 |
| 8P11.2 Deletion Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Epicanthus, Talipes equinovarus, Spherocytosis, Atrial sep... |
ORPHA:251066 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Polycystic ovaries, Dysmeno... |
ORPHA:79240 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Penoscr... |
OMIM:612965 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica... |
OMIM:115470 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Postnatal growth retardation... |
ORPHA:2728 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypoplasia of the capi... |
ORPHA:85166 |
| Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus, Hyperthyroidism, Anemia, Miscarriage |
ORPHA:99927 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Microphthalmia |
OMIM:610023 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose, Hypertelorism |
OMIM:266810 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Tachypnea, Failure to thrive |
OMIM:237310 |
| Filippi Syndrome |
|
Optic atrophy, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Ambigu... |
OMIM:272440 |
| Orofaciodigital Syndrome Ix |
|
Bifid nasal tip, Broad nasal tip, Toe syndactyly, Short tibia, Telecanthus, Hand polydactyly, Hig... |
OMIM:258865 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Corneal opacity |
OMIM:166300 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Depressed nasal bridge, Broad nasal tip, Lymphedema, Downslanted palpebral fissures, Anteverted n... |
OMIM:152950 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, H... |
OMIM:309801 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Familial Thyroid Dyshormonogenesis |
|
Depressed nasal bridge, Lethargy, Macroglossia, Goiter |
ORPHA:95716 |
| Hartsfield Syndrome |
|
Cleft upper lip, Cryptorchidism, Hypotelorism, Gonadotropin deficiency, Epicanthus, Median cleft ... |
OMIM:615465 |
| Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Proptosis, Natal tooth, Downslant... |
OMIM:259775 |
| Propionic Acidemia |
|
Apnea, Lethargy, Tachypnea, Failure to thrive |
OMIM:606054 |
| Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiec... |
OMIM:618801 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy |
ORPHA:289916 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethral stricture, E... |
OMIM:619522 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Hepatic steatosis,... |
ORPHA:280365 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... |
OMIM:308240 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Abnormality of the dentition, Carious teeth, Sparse lat... |
ORPHA:3253 |
| Cerebrooculonasal Syndrome |
|
Narrow palate, Sparse eyebrow, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted ... |
OMIM:605627 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, Paroxysmal bursts of laughter,... |
ORPHA:391428 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Chronic hepa... |
OMIM:615207 |
| Neuhauser Syndrome |
|
Wide nasal bridge, Bifid uvula, Long philtrum, Hypoplasia of the iris, Megalocornea, Downslanted ... |
OMIM:249310 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Long philtrum, Anteverted nares... |
ORPHA:1358 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Blepharophimosis, Short nose |
ORPHA:99688 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
| Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Bronchiect... |
OMIM:615481 |
| Traboulsi Syndrome |
|
Cataract, Bifid uvula, Ectopia lentis, Dental malocclusion, Phakodonesis, Downslanted palpebral f... |
OMIM:601552 |
| Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Situs inversus totalis, Infertility, Recurrent respiratory infections, Decreased cir... |
OMIM:615872 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Choanal atresia, Depressed nasal bridge, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbi... |
OMIM:610199 |
| Williams Syndrome |
|
Genu valgum, Death in early adulthood, Type II diabetes mellitus, Cryptorchidism, Myopathy, Polyc... |
ORPHA:904 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Ptosis, Malar flattening, Abnormal palate morphology |
ORPHA:93262 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bro... |
OMIM:614935 |
| Late-Onset Isolated Acth Deficiency |
|
Pituitary adenoma, Failure to thrive, Autoimmunity, Premature ovarian insufficiency, Hashimoto th... |
ORPHA:199299 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Brachydactyly, Recurrent respiratory infections, Cone-shaped epiphyses of the phalang... |
OMIM:618618 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Failure to thrive, Finger syndactyly, Ascites, Tetralogy of Fallo... |
ORPHA:974 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Retinal degeneration, Coloboma, Hydrocephalus, Microphthalmia |
OMIM:615249 |
| Osteoglophonic Dysplasia |
|
Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phalanx, High palate, Short... |
OMIM:166250 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Median cleft upper lip, Blep... |
ORPHA:3374 |
| Microlissencephaly-Micromelia Syndrome |
|
Failure to thrive, Long philtrum, Respiratory distress, Hypoparathyroidism, Palpebral edema, Shor... |
ORPHA:50810 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Sparse eyebrow, Annular pancreas, Delayed eruption of teeth, Anteriorly p... |
OMIM:268400 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Protruding tongue, Ventricular septal... |
OMIM:301040 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Proptosis, Hypertelorism, High palate, Short nose |
ORPHA:93258 |
| Omenn Syndrome |
|
Pneumonia, Severe B lymphocytopenia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, E... |
OMIM:603554 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Open mouth, Cryptorchidism, High palate, Short nose, Downturned corners of ... |
OMIM:616580 |
| Mulibrey Nanism |
|
Wide nasal bridge, Depressed nasal bridge, Ascites, Myocardial fibrosis, Cardiomegaly, Pericardia... |
OMIM:253250 |
| Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Bulbous nose, Cryptorchidism, Hypotelorism, Thin upper lip vermilion, Epica... |
OMIM:613884 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Small hand, Ankyloblepharon, Popliteal pterygium, Absent distal phalanges, Bi... |
OMIM:619339 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
| Distal Duplication 5Q |
|
Absent thumb, Eczematoid dermatitis, Downslanted palpebral fissures, Prominent nasal bridge, Cryp... |
ORPHA:96097 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Microphthalmia/Coloboma 3 |
|
Iris coloboma, Microphthalmia |
OMIM:610092 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, High palate, Mandibular prognathia |
OMIM:300676 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig... |
ORPHA:221139 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
| Distal Deletion 6P |
|
Abnormality of the dentition, Downturned corners of mouth, Hypoplasia of the iris, Ectopia pupill... |
ORPHA:96125 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Bifid uvula, Small hand, Decreased response to growth hormone stimulation... |
OMIM:241410 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Carious teeth, Failure to thrive, Diastema, Intestinal ma... |
OMIM:244450 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... |
OMIM:616005 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Decreased fertility, Sparse eyelashes, Ventricular septal defect, Epicanthus, K... |
OMIM:234050 |
| Manitoba Oculotrichoanal Syndrome |
|
Bifid nasal tip, Anal stenosis, Broad nasal tip, Nasolacrimal duct obstruction, Anteriorly placed... |
OMIM:248450 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Gait ataxia, Limb muscle... |
OMIM:157640 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Broad nasal tip, Long philtrum, Downslanted palpebral fissures, Prominent nasa... |
OMIM:300749 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Pustular rash, Failure to thrive, Lymphopenia, Nasal septum perforation,... |
OMIM:615934 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Short palpebral fissure, Dental crowding, Persistence of primary teeth... |
OMIM:170390 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Death in chil... |
OMIM:301108 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Oligohydramnios, Absent distal phalanges, Limb hypertonia, ... |
OMIM:614219 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Polymicrogyria, Postnatal growth retardation, Overlapping toe, Prominent nasal bri... |
OMIM:614225 |
| 3Mc Syndrome 2 |
|
Wide nasal bridge, Highly arched eyebrow, Downturned corners of mouth, Cleft upper lip, Downslant... |
OMIM:265050 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm... |
OMIM:608184 |
| Peho Syndrome |
|
Edema of the dorsum of hands, Epicanthus, Short nose, Edema of the dorsum of feet, Edema, Tapered... |
OMIM:260565 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Cryptorchidism, Retinal detachment,... |
ORPHA:899 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
| Joubert Syndrome 16 |
|
Coloboma, Encephalocele, Retinal dystrophy |
OMIM:614465 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Microphthalmia, An... |
ORPHA:2059 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Downslanted palpebral fissures, Hypopl... |
OMIM:222448 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Downturned corners of mouth, Telecanthus, Deeply set eye, Thin upper lip ... |
OMIM:618590 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... |
OMIM:608612 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
| 8Q12 Microduplication Syndrome |
|
Abnormal cranial nerve morphology, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe... |
ORPHA:227990 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Aplastic/hypoplastic lacrimal glands, Cryptorchidism, Reduced subcutaneous adipose... |
OMIM:612289 |
| Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, High, narrow palate, Widely spaced teeth, Anteverted nares, Telecanthus, Hypot... |
OMIM:218330 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Stomach cancer, Epicanthus, Atrial septal defect, Microphthalmia, A... |
ORPHA:1052 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death |
OMIM:614096 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Anophthalmia, Perineal fist... |
ORPHA:2538 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent nose, Glucose intolerance, Joint contracture of the 5th finger, Acrocyanosis, Impaired ... |
OMIM:614407 |
| Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... |
ORPHA:37202 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... |
OMIM:618300 |
| Frontorhiny |
|
Cataract, Hypoplasia of the maxilla, Epicanthus, Ptosis, Cleft palate, Bifid tongue, Iris colobom... |
ORPHA:391474 |
| Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Microdontia, A... |
ORPHA:231178 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Cleft upper lip, Downslanted palpebral fissures, Anteverted nares, Wide m... |
ORPHA:261236 |
| Long-Olsen-Distelmaier Syndrome |
|
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Ven... |
OMIM:620609 |
| Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Short nose, Deeply set eye |
OMIM:617183 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... |
ORPHA:373 |
| Charge Syndrome |
|
Abnormal tibia morphology, Postnatal growth retardation, Cryptorchidism, Anophthalmia, Epicanthus... |
ORPHA:138 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... |
ORPHA:96179 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Absent... |
OMIM:613193 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1006 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Ankle flexion contracture, Volvulus, Long eyelashes, Recurrent lower resp... |
OMIM:617802 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... |
ORPHA:238459 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi... |
ORPHA:227982 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Chorioretinal coloboma, Macular hypoplasia, Atrial septal defect, Hydrocephalus, R... |
OMIM:615219 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pancytopeni... |
ORPHA:1855 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Decre... |
ORPHA:572 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Ambiguous genitalia, Atrial septal de... |
OMIM:618142 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Polymicrogyria, Horseshoe kidney, Nephrogenic rest... |
OMIM:608022 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Self-injurious behavior, Type I diabetes mellitus, Abnormal h... |
ORPHA:488618 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
| 8Q21.11 Microdeletion Syndrome |
|
Eczematoid dermatitis, Underdeveloped nasal alae, Camptodactyly of finger, Downslanted palpebral ... |
ORPHA:284160 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Bicuspid aorti... |
ORPHA:329224 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Nasolacrimal duct obstruction, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Downslanted ... |
OMIM:149730 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Neonatal death |
OMIM:618232 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2394 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Epicanthus, Talipes equinovarus, Diffuse mesangial... |
OMIM:251300 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Downslanted palpebral fissures, Impacted tooth, Abn... |
ORPHA:236 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... |
ORPHA:91354 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Skeletal muscle atrophy, Edema, Abnormal fear-induced behavior, Increased circ... |
OMIM:219090 |
| Oculotrichoanal Syndrome |
|
Bifid nasal tip, Anal stenosis, Nasolacrimal duct obstruction, Anteriorly placed anus, Cryptophth... |
ORPHA:2717 |
| Achondrogenesis, Type Ia |
|
Depressed nasal bridge, Hypoplastic nasal bridge, Abnormal femoral metaphysis morphology, Severe ... |
OMIM:200600 |
| Trisomy 10P |
|
Decreased muscle mass, Thumb contracture, Absent gallbladder, Epicanthus, Talipes equinovarus, Ab... |
ORPHA:171929 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic rhinitis, Dextrocard... |
OMIM:611884 |
| Trichothiodystrophy |
|
High, narrow palate, Carious teeth, Cryptorchidism, Hypotelorism, Epicanthus, Keratoconjunctiviti... |
ORPHA:33364 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Upslanted palpebral fissure, Deeply set eye, Narrow palpebral fissure, Hypertelorism, Short nose |
OMIM:618087 |
| Opitz Gbbb Syndrome |
|
Ankyloglossia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial... |
ORPHA:2745 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Facial diplegia, Polyhydramnios, Obsessive-compulsive trait, Testic... |
OMIM:160900 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy, Failure to thrive, Death in infancy, Neonatal death |
OMIM:605711 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Cryptorchidism, Deeply set eye, Epicanthus, Narrow palpebral fissure, Hypertelorism, Short nose, ... |
OMIM:613458 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Death in infancy, Brachyd... |
OMIM:602361 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Failure to thrive, Increased circulating IgE level, Long eyelashes, Recurren... |
OMIM:616069 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Ascite... |
ORPHA:370348 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Narrow mouth, Cryptorchidism, Deeply set eye, High palate, Thyroid hypoplasia,... |
OMIM:619503 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Anal stenosis, Broad nasal tip, Wide mouth, Tented upper lip vermilion, Long p... |
OMIM:614207 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Recurrent re... |
OMIM:616481 |
| Cystic Fibrosis |
|
Cor pulmonale, Recurrent pneumonia, Nasal polyposis, Biliary cirrhosis, Failure to thrive, Meconi... |
OMIM:219700 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Umbilical hernia, Advanced tarsal ossification, Nonimmune hydrops fetal... |
OMIM:269250 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal mesentery morphology, Cryptorchidism, Myopathy, High palate, Recu... |
ORPHA:2953 |
| Menke-Hennekam Syndrome 1 |
|
Everted upper lip vermilion, Cryptorchidism, Deeply set eye, Epicanthus, Blepharophimosis, High p... |
OMIM:618332 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... |
ORPHA:1946 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Hernia, Epicanthus, A... |
ORPHA:505248 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Short great... |
OMIM:187601 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Cryptorchidism, Death in infancy, Epicanthus, Hypoplastic nipples, Lethargy, D... |
OMIM:614866 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Hypoplasia of the iris, Limbal dermoid... |
OMIM:613001 |
| Lambert Syndrome |
|
Hypospadias, Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| 3Q29 Microduplication Syndrome |
|
Wide nasal bridge, Toe syndactyly, Sandal gap, Downslanted palpebral fissures, Obesity, Aniridia,... |
ORPHA:251038 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, B lymphocyto... |
OMIM:601495 |
| Monosomy 18P |
|
Wide nasal bridge, Lymphedema, Epicanthus, Ptosis, Brachydactyly, Microphthalmia, Cleft palate |
ORPHA:1598 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Hepatom... |
ORPHA:1677 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Failure to thrive, Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, ... |
OMIM:608776 |
| Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hem... |
ORPHA:520 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, H... |
OMIM:609053 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Microphthalmia, High palate, Short p... |
OMIM:608670 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Contractures of the large joints, Ventricular septa... |
ORPHA:3078 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Hepatomegaly, Macrovesicular hepa... |
OMIM:600649 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Death in infancy, Bicuspid aorti... |
ORPHA:1120 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Hepatomegaly, High palate, ... |
OMIM:620369 |
| Cardiofaciocutaneous Syndrome 1 |
|
Palpebral thickening, Open bite, Open mouth, Absent eyelashes, Epicanthus, Absent eyebrow, Hypert... |
OMIM:115150 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcut... |
OMIM:609069 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Postnatal growth retardation, Cryptorchidism, Ventricular sep... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Postnatal growth retardation, Cryptorchidism, Ventricular sep... |
ORPHA:353277 |
| Elsahy-Waters Syndrome |
|
Megalocornea, High palate, Cataract, Hypoplasia of the maxilla, Downslanted palpebral fissures, I... |
OMIM:211380 |
| Autosomal Dominant Robinow Syndrome |
|
Open bite, Cryptorchidism, Anodontia, Epicanthus, Euryblepharon, Hypertelorism, Short nose, Wide ... |
ORPHA:3107 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Anteverted nares, Oligohyd... |
OMIM:619879 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Lacrimal duct aplasia, Widely spaced teeth, Absent lacrimal punctum, Absent eyelas... |
OMIM:620193 |
| Peho Syndrome |
|
Arthrogryposis multiplex congenita, Anteverted nares, Peripheral edema, Epicanthus, Short nose, P... |
ORPHA:2836 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Marshall-Smith Syndrome |
|
Aspiration pneumonia, Cryptorchidism, Death in childhood, Ventricular septal defect, Decreased bo... |
OMIM:602535 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Anteriorly placed anus, Respiratory distress, Episodic tachypnea, Obesity, Lethargy, Tachypnea, O... |
ORPHA:26793 |
| Witteveen-Kolk Syndrome |
|
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overhan... |
OMIM:613406 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Situs inversus totalis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media |
OMIM:614017 |
| Wiedemann-Steiner Syndrome |
|
Wide nasal bridge, Short palpebral fissure, Failure to thrive, Long philtrum, Decreased response ... |
ORPHA:319182 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Underdeveloped nasal alae, Downslanted palpebral fissures, Antever... |
OMIM:611961 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Stippled calcification in carpal bones, Decreased fertility, Hem... |
ORPHA:60025 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Intrauterine growth retardation, Anteverted nares, Clef... |
ORPHA:2282 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Wide nasal bridge, Carious teeth, Dental malocclusion, Microretrognathia, Periorbital dermoid cys... |
OMIM:615560 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Malar flat... |
OMIM:602482 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Telecanthus, Long palpebral fissure, Ptosis, Microphthalmia |
OMIM:614583 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... |
OMIM:179613 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Recurrent respiratory ... |
ORPHA:79124 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Genu valgum, Diaphyseal undertubulation, Abnormal fibula ... |
ORPHA:1803 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Tachypnea, Necrotizing enterocolitis, Death in infancy |
OMIM:201475 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Umbilical hernia |
ORPHA:352490 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Patent foramen oval... |
OMIM:619167 |
| Coffin-Lowry Syndrome |
|
Cataract, Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption o... |
ORPHA:192 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cataract, Sparse eyebrow, Hypoplasia of the frontal bone, Hypoplasia of the ma... |
ORPHA:306542 |
| Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Aggressive behavior, Hy... |
OMIM:252920 |
| Van Maldergem Syndrome 1 |
|
Wide nasal bridge, Short palpebral fissure, Hypoplasia of the maxilla, Dental malocclusion, Downt... |
OMIM:601390 |
| Toluene Embryopathy |
|
Short palpebral fissure, Cryptorchidism, Epicanthus, Smooth philtrum, Thin vermilion border, Shor... |
ORPHA:1920 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Abnormality of the urinary system, Growth delay, Ureteral stenosis, Antev... |
ORPHA:2719 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Narrow nasal bridge, Metacarpophalangeal joint contracture, Edema of the dorsu... |
ORPHA:544503 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Apnea, Failure to thrive |
OMIM:210200 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Anteverted nares, Hypoglycemia, Wide nose |
OMIM:616260 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Septate vagina, Scimitar anomaly, Death in childhood... |
OMIM:608978 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegal... |
OMIM:615085 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus, Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Galloway-Mowat Syndrome 3 |
|
Edema, Failure to thrive, Pachygyria, Downslanted palpebral fissures, Intrauterine growth retarda... |
OMIM:617729 |
| Charge Syndrome |
|
Postnatal growth retardation, Unilateral microphthalmos, Lymphopenia, Cryptorchidism, Anophthalmi... |
OMIM:214800 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Bifid uvula, Proptosis, Proboscis, Median cleft palate, Hypotelorism... |
OMIM:157170 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Recurrent aspiration pneumonia |
OMIM:619971 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... |
ORPHA:79259 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Encephalocele, Cryptorchidism, Microphthalmia, Anal atresia, Patent ductus arteriosu... |
OMIM:616300 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Keratitis, Dental crowding, Shallow orbits, Conjunctivitis, High palat... |
OMIM:123500 |
| Monosomy 13Q34 |
|
Insulin resistance, Epistaxis, Broad nasal tip, Horizontal eyebrow, Growth delay, Postaxial foot ... |
ORPHA:96168 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Decreased f... |
ORPHA:91355 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Hermansky-Pudlak Syndrome 10 |
|
Smooth philtrum, Apnea, Hypotelorism |
OMIM:617050 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Atrial septal defect, Retinal dystrophy |
OMIM:608629 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Failure to thrive |
OMIM:238970 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Anisopoikilocytosis, Toe syndactyly, Failure to thrive, Postaxial foot ... |
ORPHA:46059 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Cryptorchidism, Epicanthus, Atrial septal defect, High palate, Short nose, Lymphedem... |
ORPHA:1340 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Hypertrophic cardiomyopathy, Crohn's disease, Absent circulating B cells, Decreas... |
OMIM:619705 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Death in infancy, Neonatal death, Lethargy, Stillbirth |
OMIM:614922 |
| Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic acetabulae, Irregular epiphyses, Genu valgum, Iliac crest serra... |
OMIM:607326 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Hypotelorism, Median cleft upper lip, Orofacial cleft, Cyclopia, Aplasia of t... |
ORPHA:3186 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Failure to thrive |
OMIM:619518 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cryptorchidism, Coloboma, Microphthalmia, Micropenis, Retinal dystrophy, Optic nerv... |
OMIM:610125 |
| Opsismodysplasia |
|
Depressed nasal bridge, Broad thumb, Splenomegaly, Brachydactyly, Hepatomegaly, Recurrent respira... |
ORPHA:2746 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... |
OMIM:146255 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... |
OMIM:233450 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Cryptorchidism, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:353281 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, High palate, Sparse eyela... |
ORPHA:35173 |
| Pfeiffer Syndrome Type 2 |
|
Choanal atresia, Depressed nasal bridge, Proptosis, Respiratory distress, Intestinal malrotation,... |
ORPHA:93259 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Tubuloin... |
OMIM:607944 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Depressed nasal bridge, Sparse eyebrow, Absent nipple, Conical t... |
OMIM:305100 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Umbilical hernia, Abnormal scrotum morphology, Cryptorchidism, Inguinal hernia, Ep... |
ORPHA:2505 |
| Lelis Syndrome |
|
Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Upslanted palpebral fissure, Hypodontia, ... |
ORPHA:140936 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, IgA deposition in the glomerulus, Anal fissure, Ankyloglossia, Urethral s... |
ORPHA:79408 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... |
OMIM:153400 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyebrow, Rhizomelia, Failure to thrive, Downslanted palpebral fissures, Hemiatrophy, Stipp... |
OMIM:302960 |
| Tako-Tsubo Cardiomyopathy |
|
Pulmonary edema, Dilatation of the ventricular cavity, Obesity |
ORPHA:66529 |
| Chromosome 22Q13 Duplication Syndrome |
|
Anteverted nares, Upslanted palpebral fissure, Narrow nasal ridge, Polyphagia, Attention deficit ... |
OMIM:615538 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Carious teeth, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Anteverted nares... |
OMIM:219200 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Increased circulating prolactin concentration, Lethargy, Pituitary hypothyroidism, Ov... |
ORPHA:99832 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Hernia, Dysplastic aortic valve,... |
ORPHA:264450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Thin upper lip vermilion, S... |
OMIM:309520 |
| Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, Iris coloboma, Retinal dyst... |
ORPHA:139471 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Nasal congestion, Bulbous nose, Apnea, Death in infancy, Lethargy, High palate |
OMIM:608836 |
| Oculodentodigital Dysplasia |
|
Short palpebral fissure, Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Clef... |
OMIM:164200 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Breast hypoplasia, Long ey... |
OMIM:601353 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Intrauterine growth retardation, Atrial septal defect |
OMIM:617744 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... |
OMIM:619445 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Failure to thrive, Anteverted nares, Narrow mouth, Upslanted palpebral fissure, Thin upper lip ve... |
OMIM:613735 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Telecanthus, Upslanted palpeb... |
ORPHA:1974 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... |
OMIM:612561 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Broad thumb, Cryptorchidism, Epicanthus, Talipes equinovarus, Atrial septal defec... |
OMIM:609945 |
| Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Upper eyelid edema, Open m... |
ORPHA:293939 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Intrauterine growth retardation, Death in infancy, Ventricular septal defect, Atri... |
OMIM:614576 |
| Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Postnatal gr... |
OMIM:620603 |
| Congenital Primary Aphakia |
|
Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth... |
ORPHA:83461 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Heart And Brain Malformation Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Hand clenching, Camptodactyly of ... |
OMIM:616920 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Difficulty walking, Inability to walk, Recurrent aspiration pneumonia... |
ORPHA:2590 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Delayed eruption of teeth |
OMIM:617105 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Lobulated tongue, Telecanthus, Micrognathia, Malar flattening, Agenesi... |
OMIM:252100 |
| Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Rhinitis, Chronic otitis... |
OMIM:618063 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depressed nasal bridge, Depression, Failure to thrive, Increased circulating prolactin concentrat... |
ORPHA:90674 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... |
OMIM:616749 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Anosmia, Lacrimal duct atresia, Microphthalmia, Cryptorchidism, Inguinal hernia,... |
OMIM:603457 |
| Barber-Say Syndrome |
|
Sparse eyebrow, Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Del... |
OMIM:209885 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in childhood, Death in infancy, Retinal detachment, Hydrocephalus, Remnants ... |
OMIM:614643 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Ankyloglossia, Genu valgum, Hepatic steatosis, Ventricular septal defect, Hemat... |
OMIM:619475 |
| Cataract 9, Multiple Types |
|
Iris coloboma, Microphthalmia |
OMIM:604219 |
| Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Optic disc... |
OMIM:618950 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Broad nasal tip, Carious teeth, Failure to thrive, Long philtrum, Downslanted palpebral fissures,... |
ORPHA:357074 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Epicanthus, Aplasia of metacarpal bones, Small thenar eminence, Atrial... |
OMIM:607323 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Nasal congestion, Apnea, Lethargy, Ptosis |
OMIM:608643 |
| Abcd Syndrome |
|
Large for gestational age, Neonatal death, White eyebrow, White eyelashes, Albinism |
OMIM:600501 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Failure to thrive, Hemo... |
ORPHA:39812 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ... |
ORPHA:3411 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Bifid humerus, Hitchhi... |
OMIM:256050 |
| Andersen-Tawil Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Short palpebral fissure, Hypoplasia of the maxil... |
ORPHA:37553 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular ... |
OMIM:612582 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... |
OMIM:243150 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Downslanted palpebral fissures, Intrauterine growth retardation, C... |
ORPHA:1786 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Skeletal muscle atrophy, Abnormal large intestine morphology, Hypoglycemia, Lym... |
ORPHA:109 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Limb muscle weakness, Abnormal proportion of CD4-po... |
ORPHA:217260 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczematoid dermatitis, Failure to thrive, Microcytic anemia, Microphthalmia |
OMIM:612379 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... |
OMIM:615234 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Wide nasal bridge, Short palpebral fissure, Underdeveloped nasal alae, Downslanted palpebral fiss... |
OMIM:614230 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... |
OMIM:612109 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, V... |
OMIM:256520 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary hemorrhage, Joint contracture of the 5th finger, Cryptorchidism, Epicanthus, Hypoplasti... |
ORPHA:363611 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Hypertelorism, High palate, Duodenal ulcer, Gastric ulcer, Choanal atresia, Broad... |
OMIM:135900 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Ge... |
ORPHA:2152 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Anteverted nares, Ptosis, Blepharophimosis, Glossoptosis, Short nose |
ORPHA:2031 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... |
OMIM:610910 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Hypogonadism, Intrauterine growth retardation, Death in infancy, Ventricul... |
OMIM:300514 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares, Hepatomegal... |
OMIM:617809 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Lar... |
OMIM:249000 |
| Fetal Gaucher Disease |
|
Depressed nasal bridge, Abnormality of the spleen, Anteverted nares, Pancytopenia, Splenomegaly, ... |
ORPHA:85212 |
| Woods Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:615236 |
| Trisomy X |
|
Precocious puberty, Ventricular septal defect, Atrial septal defect, Premature ovarian insufficie... |
ORPHA:3375 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Cachexia |
ORPHA:42 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Right ventricular hypertrophy, Pedal edema |
ORPHA:275766 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Renal hypoplasia/aplasia, A... |
ORPHA:2753 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bifid nasal tip, Sparse eyebrow, Failure to thrive, Polymicrogyria, Ankyloglossia, Unilateral mic... |
OMIM:618874 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... |
OMIM:223800 |
| Say-Barber-Miller Syndrome |
|
Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nodosum, High palate, Sparse eyebrow, Br... |
ORPHA:3132 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Cryptorchidism, Ventricular septal ... |
ORPHA:251014 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Failure to thrive, Eruption failure, Long philtrum... |
ORPHA:476126 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Sparse lateral eyebrow |
ORPHA:170 |
| Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Congenital diaphragmatic hernia, Cryptorchidism, Radioulnar synosto... |
ORPHA:1272 |
| Desmosterolosis |
|
Joint contracture of the hand, Total anomalous pulmonary venous return, Rhizomelia, Failure to th... |
OMIM:602398 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Subluxation of the small joints of the hand, Dysplasia of the femoral head... |
ORPHA:536471 |
| Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Downslanted palpebral fissures, Cleft soft palate, Esophageal atresia, Atrial septal... |
OMIM:614526 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... |
ORPHA:1133 |
| Van Maldergem Syndrome 2 |
|
Wide nasal bridge, Short palpebral fissure, Hypoplasia of the maxilla, Dental malocclusion, Downt... |
OMIM:615546 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Prem... |
ORPHA:371428 |
| Ophthalmoplegia, Familial Static |
|
Ptosis, Anisocoria |
OMIM:165000 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin... |
ORPHA:79128 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Coloboma, Anterior encephalocele, Ventricular septal defect |
OMIM:601357 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defec... |
ORPHA:2772 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Hyperactive renin-angiotensin system, Hypoglycemia, Failure to thrive, Abnormal female... |
ORPHA:90790 |
| Marshall Syndrome |
|
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... |
OMIM:154780 |
| Pfeiffer Syndrome Type 3 |
|
Choanal atresia, Depressed nasal bridge, Proptosis, Respiratory distress, Intestinal malrotation,... |
ORPHA:93260 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect |
OMIM:616277 |
| Recon Progeroid Syndrome |
|
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Keratoconjunctivitis sicca, Thin ... |
OMIM:620370 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy, Microphthalmia |
ORPHA:773 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Wide nasal bridge, Mastocytosis, Failure to thrive, Camptodactyly of finger, Clinodact... |
ORPHA:2135 |
| Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Abnormal optic disc morphology, Sh... |
OMIM:617516 |
| Robinow Syndrome |
|
Flared nostrils, Small scrotum, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Vent... |
ORPHA:97360 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Short palpebral fissure, Secundum atrial septal defect, Failure to thrive, Skeletal muscle atroph... |
OMIM:608779 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Humeroradial synostosis, Brac... |
ORPHA:93333 |
| Monosomy 9P |
|
Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Abnormality of the dentition, Lon... |
ORPHA:261112 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Microphthalmia, Lens coloboma, Pulmonic stenosis |
OMIM:618914 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Recurrent pneumonia, Sparse eyebrow, Small for gestational ag... |
OMIM:234100 |
| Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia |
OMIM:615879 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Cantu Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Umbilical he... |
OMIM:239850 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Failure to thrive, Lethargy, Glossitis, Stomatitis, Cleft palate |
ORPHA:79284 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Encephalocele, Bowing of the long... |
ORPHA:90652 |
| Stromme Syndrome |
|
Wide nasal bridge, Accessory spleen, Preaxial polydactyly, Intestinal malrotation, Short columell... |
OMIM:243605 |
| Mend Syndrome |
|
Aortic valve stenosis, Overlapping toe, Overlapping fingers, Cryptorchidism, Microphthalmia, High... |
ORPHA:401973 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:613751 |
| Microphthalmia/Coloboma 9 |
|
Iris coloboma, Retinal detachment, Macular coloboma, Microphthalmia |
OMIM:615145 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Pr... |
ORPHA:324410 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Cryptorchidism... |
OMIM:268310 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... |
ORPHA:178320 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Situs inversus totalis, Otitis media, Dextrocardia, Sinusitis, Recurrent respira... |
OMIM:606763 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Lymphopenia, Epiblepharon, Neutropenia, Dysphagia, Short nose, Patent ductus arteri... |
OMIM:618460 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Lethargy, Failure to thrive |
OMIM:201100 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... |
ORPHA:2457 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptor... |
ORPHA:1926 |
| Fanconi Anemia, Complementation Group L |
|
Wide nasal bridge, Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Abse... |
OMIM:614083 |
| Myhre Syndrome |
|
Cataract, Short palpebral fissure, Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uv... |
ORPHA:2588 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... |
OMIM:300166 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Intrauterine growth retardation, Large placen... |
ORPHA:499009 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Polymicrogyria, Inability to walk, Intrauterine growth retardatio... |
ORPHA:79243 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Microphthalmia, Lenz Type |
|
Self-injurious behavior, Ankyloblepharon, Hydroureter, Finger syndactyly, Camptodactyly of finger... |
ORPHA:568 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Bifid uvula, Hyposmia, Hypogonadism, External genital hypoplasia, Inguinal hernia, Crypt... |
ORPHA:2250 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi... |
OMIM:620233 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Short distal phalanx of finger, Broad nasal tip, Optic disc hypoplasia, Na... |
ORPHA:79345 |
| Rhombencephalosynapsis |
|
Anteverted nares, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... |
ORPHA:59315 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive |
OMIM:611590 |
| Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Emphysema, Increased circulating IgE level,... |
ORPHA:634 |
| Phace Association |
|
Optic atrophy, Ventricular septal defect, Horner syndrome, Increased retinal vascularity, Microph... |
OMIM:606519 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251000 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... |
OMIM:203800 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Ascites, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly, Vacuolated ly... |
OMIM:256550 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Failure to thrive, Intestinal malrotation, Slender build, Hypotelorism... |
OMIM:613658 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Hydranencephaly, Ventricular septal defect |
OMIM:601355 |
| Fraser Syndrome |
|
Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap... |
ORPHA:2052 |
| Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in infancy, C... |
ORPHA:810 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pneumothorax, Weight loss, Pericardial effusion, Bronchiectasis |
ORPHA:411703 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Poly... |
ORPHA:3301 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Yellow Fever |
|
Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Jaundice, Acute pancreatitis |
ORPHA:99829 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Cryptorchidism, Epicanthus, Short hard palate, Hypertelorism, High palate... |
OMIM:180700 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Left ventricular hypertro... |
OMIM:615355 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nasal bridge, Chylothorax, Erysipelas, Lymphedema, Anteverted nares, Pleural effusion, Anoph... |
ORPHA:2526 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Nephrocalcinosis, Podagra, Nephrolithiasis, Hyperuricosuria, Megaloblast... |
OMIM:300322 |
| Hydrolethalus |
|
Bifid uvula, Micromelia, Anophthalmia, Abnormality of the sense of smell, Cryptorchidism, Submuco... |
ORPHA:2189 |
| Opsismodysplasia |
|
Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Anteverted nares, Oligohydramnios, Long ... |
OMIM:258480 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Teebi-Shaltout Syndrome |
|
Wide nasal bridge, Aortic valve stenosis, High, narrow palate, Broad nasal tip, Highly arched eye... |
OMIM:272950 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Situs inversus totalis, Optic nerve hypoplasia |
OMIM:614833 |
| Dihydropyrimidinase Deficiency |
|
Lethargy, Anal atresia, Failure to thrive |
OMIM:222748 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sparse eyebrow, Eczematoid dermatitis, Angioe... |
OMIM:256500 |
| Biotinidase Deficiency |
|
Conjunctivitis, Apnea, Lethargy, Tachypnea |
OMIM:253260 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Femoral bowing, Dumbbell-shaped long bone, Brachydactyly, Metaphyseal widen... |
ORPHA:440354 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Megalocornea, Aniridia, Mandibular... |
ORPHA:1101 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... |
ORPHA:906 |
| Cousin Syndrome |
|
Joint contracture of the hand, Fibular aplasia, Dislocation of the femoral head, Humeroradial syn... |
OMIM:260660 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Autoimmunity, Pleural effusion, ... |
ORPHA:2902 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Anophthalmia, Microphthalmia |
OMIM:611038 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tis... |
OMIM:606721 |
| Typhoid |
|
Epistaxis, Lethargy |
ORPHA:99745 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Hypoglycemia, Supernumerary nipple, Abnormal heart morphology, Downslan... |
ORPHA:457279 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane, Widely-spaced incisors |
ORPHA:79414 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Hypoplasia of the iris, Splenomegaly, Myopathy, Thrombocytopenia, Hepatomegaly, Hemoly... |
ORPHA:169090 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular se... |
ORPHA:500159 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Hypopla... |
OMIM:156610 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Short nose, Abn... |
OMIM:311300 |
| Holoprosencephaly 1 |
|
Proboscis, Median cleft palate, Hypotelorism, Median cleft upper lip, Cyclopia, Aplasia of the nose |
OMIM:236100 |
| Omodysplasia 1 |
|
Wide nasal bridge, Depressed nasal bridge, Axillary pterygium, Popliteal pterygium, Rhizomelia, S... |
OMIM:258315 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Gonadal dysgenesis, male, Double ... |
OMIM:231060 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia |
OMIM:180920 |
| Diamond-Blackfan Anemia |
|
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Cleft soft palate, Epicanthus, Lethargy, Pt... |
ORPHA:124 |
| Zika Virus Disease |
|
Myelitis, Optic disc hypoplasia, Increased circulating IgM level, Intrauterine growth retardation... |
ORPHA:448237 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Long philtrum, Downslanted palpebral fissures, Upslanted palpebral fis... |
ORPHA:481152 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... |
ORPHA:763 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Inab... |
OMIM:103050 |
| Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Blue ir... |
OMIM:105830 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus |
ORPHA:93274 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Occipital encephalocele, Cryptorchidism, Retinal atrophy, Coloboma, Retinal detach... |
OMIM:236670 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Esophagitis, Dysphagia, Chronic otitis media, Recurrent cutaneous abscess form... |
OMIM:618131 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
| Branchioskeletogenital Syndrome |
|
Highly arched eyebrow, Hypoplasia of the maxilla, Carious teeth, Bifid uvula, Downturned corners ... |
ORPHA:1299 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
| Nocardiosis |
|
Lymphadenitis, Scleritis, Weight loss, Dacryocystitis, Endocarditis, Cutaneous abscess, Osteomyel... |
ORPHA:31204 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Williams-Beuren Syndrome |
|
Recurrent otitis media, Obsessive-compulsive trait, Mitral valve prolapse, Ventricular septal def... |
OMIM:194050 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Glucose intolerance, Splenomegaly, Ventricular septal defect, Hepa... |
OMIM:615630 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Narrow palate, Dental malocclusion, Downslanted palpebral fissures, Anteverted nares, Prominent n... |
OMIM:227330 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:2835 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Splenomegaly, Decreased proportion ... |
OMIM:613011 |
| Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Diaphyseal under... |
OMIM:601559 |
| Gapo Syndrome |
|
High, narrow palate, Depressed nasal bridge, Sparse eyebrow, Eruption failure, Long philtrum, Thi... |
OMIM:230740 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism |
OMIM:615502 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Wide nasal bridge, Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Dental crowd... |
OMIM:617157 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Lo... |
ORPHA:261537 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thick eyebrow, Upslanted palp... |
OMIM:300534 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia, Hypoglycemia |
OMIM:618838 |
| Cockayne Syndrome B |
|
Postnatal growth retardation, Cryptorchidism, Death in childhood, Reduced subcutaneous adipose ti... |
OMIM:133540 |
| Megalencephaly |
|
Macroorchidism, Long penis, Atrial septal defect |
ORPHA:2477 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Dec... |
OMIM:616462 |
| Sponastrime Dysplasia |
|
Genu valgum, Aplasia of the nasal bone, Epicanthus, Hypoplasia of the nasal bone, Neutropenia, Sh... |
ORPHA:93357 |
| Myoclonic-Astatic Epilepsy |
|
Wide nasal bridge, Thick nasal alae, Anteverted nares, Reduced social reciprocity, Attention defi... |
ORPHA:1942 |
| Prune Belly Syndrome |
|
Abnormality of the uterus, Tetralogy of Fallot, Decreased testicular size, Decreased fertility, C... |
ORPHA:2970 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Dysdiadochokinesis, Urinary retention, Aspiration pneumonia, Recurrent urinary tract infections, ... |
ORPHA:99027 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s... |
OMIM:618985 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Nasal congestion, Reduced sperm motility |
OMIM:615434 |
| Proteus-Like Syndrome |
|
Cataract, Mandibular prognathia, Downslanted palpebral fissures, Open bite, Abnormal pupil morpho... |
ORPHA:2969 |
| Coffin-Lowry Syndrome |
|
Thick nasal septum, Open mouth, Decreased body weight, Everted lower lip vermilion, Hypertelorism... |
OMIM:303600 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Intrauterine growth retardation, Retinal dystrophy, Ventricular sep... |
OMIM:616651 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral steno... |
OMIM:615398 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... |
OMIM:603194 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Ventricular septal defect, Talipes equinovarus, Microphthalmia, Bifid... |
OMIM:236680 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Downslanted palpebral fissures, Short columella, Aganglionic megacolon, Epican... |
OMIM:613603 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Postnatal growth retardation, Talipes equinovarus, Hypoplastic labia majora, Hepat... |
OMIM:269150 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hy... |
OMIM:206900 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... |
OMIM:617388 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Optic atrophy, Absence of the pulmonary valve, Umbilical hernia, Intrauter... |
OMIM:601808 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Downslanted palpebral fissures, Hyper... |
OMIM:609942 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Weight loss, Abnormal salivary gla... |
OMIM:181000 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Pneumonia, Increased circula... |
ORPHA:97287 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Aspiration pneumonia, Hyperglycemia, Ventricular septal defect, High palate, Hypospad... |
ORPHA:444077 |
| Carpenter Syndrome 1 |
|
Microcornea, Hypoplasia of the maxilla, Agenesis of permanent teeth, Telecanthus, Micrognathia, P... |
OMIM:201000 |
| Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Joint contracture of the hand, Small hand, Rhizomelia, Anteverted nares, ... |
OMIM:228520 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... |
ORPHA:556 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia |
OMIM:613576 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Cystic Fibrosis |
|
Nasal polyposis, Decreased body mass index, Absent vas deferens, Failure to thrive, Meconium ileu... |
ORPHA:586 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Choanal atresia, Recurrent pneumonia, Bifid uvula, Bilateral cryptorchidism, Downslanted palpebra... |
OMIM:300472 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
| Steinfeld Syndrome |
|
Retinal coloboma, Abnormal heart morphology, Microphthalmia, Holoprosencephaly, Iris coloboma |
OMIM:184705 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, ... |
ORPHA:3472 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Atrial septal defect,... |
OMIM:175700 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis media, Weig... |
OMIM:619381 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Downslanted palpebral fissures, Hypotelorism, Epicanthus, High palate, Abnormal nasal bridge morp... |
ORPHA:536545 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Abnormal clitoris morphology, Atrial septal defect |
ORPHA:101028 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Short thumb, Microphthalmia |
OMIM:609054 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Epicanthus, Prominence of the premaxilla |
OMIM:614886 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
| Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Failure to thrive, Ascites, Decreased proportion of... |
OMIM:615758 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Amelogenesis imperfecta, Enamel hypoplasia, Corneal pterygium |
OMIM:245660 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo... |
ORPHA:238468 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Cutaneous finger syndactyly, Encephalocele, Cryptorchidism, Renal hypoplasi... |
OMIM:219000 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Depressed nasal bridge, Thick vermilion border, Tented upper lip vermilion, Epicanthus, Ptosis, H... |
OMIM:616723 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Narrow mouth, Microdontia, High palat... |
ORPHA:1307 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Mi... |
ORPHA:508498 |
| Joubert Syndrome 2 |
|
Depressed nasal bridge, Nephronophthisis, Postaxial foot polydactyly, Failure to thrive, Renal in... |
OMIM:608091 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Death in infancy, Ventricular septal defect, Aganglionic megacolon, Ambiguous gen... |
ORPHA:452 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Anorexia, Hepatomegaly, Jaundice, N... |
ORPHA:99827 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... |
ORPHA:1106 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Encephalocele, Cryptorchidism, Ventricular septal defect, Humeroradial synostosis... |
OMIM:134780 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... |
ORPHA:331206 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Encephalocele, Cryptorchidism, Neonatal death, Talipes equinovaru... |
OMIM:108720 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho... |
OMIM:210720 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Short palpebral fissure, Microglossia,... |
ORPHA:2839 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Lethargy |
ORPHA:99828 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... |
OMIM:187600 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Polyembryoma |
|
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... |
ORPHA:180229 |
| Riddle Syndrome |
|
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Decreased circulating IgG level, Bronchitis, D... |
ORPHA:420741 |
| Cockayne Syndrome |
|
Difficulty walking, Absence of pubertal development, Postnatal growth retardation, Cryptorchidism... |
ORPHA:191 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Decreased proporti... |
ORPHA:543 |
| Tyshchenko Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Atrial septal defect,... |
OMIM:615102 |
| Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Short palpebral fissure, Retrognathia, Long philtrum, Micrognathia, Bl... |
OMIM:608149 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose |
ORPHA:289266 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Lymphedema, Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuri... |
ORPHA:662 |
| Peters-Plus Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Decreased body weight, H... |
OMIM:261540 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Ovarian fibroma, Peri... |
ORPHA:314473 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Atelis Syndrome 2 |
|
Short palpebral fissure, Elevated circulating thyroid-stimulating hormone concentration, Clinodac... |
OMIM:620185 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Abnormally large globe, Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Clitoral hypertrophy, Anophthalmia, Mitral valve prolapse, Abnormal vitreous humor morphology, Ma... |
ORPHA:2556 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Radial bowing, Lung abscess, Hypoplasia of the ulna, B lymphoc... |
OMIM:241600 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Exaggerated median tongue furrow, Abnormal mitral valve morphology, Ventri... |
ORPHA:2729 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Peptic ulcer, Decreased circulating antibody leve... |
OMIM:604928 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus art... |
ORPHA:457193 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Pneumonia, Macular edema, Abnormality of the hepatic vasculature, Nodular regenerati... |
ORPHA:247691 |
| Lathosterolosis |
|
2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Hepatic fibrosis, Postaxial foot polydact... |
OMIM:607330 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Abnormal mitral valve mor... |
ORPHA:581 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation... |
ORPHA:3103 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Lo... |
ORPHA:261552 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia of the maxilla, Abnorm... |
OMIM:277600 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Congenit... |
ORPHA:564 |
| C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Female pseudohermaphroditism, Congenital diaphragma... |
ORPHA:1308 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly, Nasal congestion |
ORPHA:66518 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomega... |
OMIM:615238 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Keratoconjunctivitis sicca, Narrow nasal bridge, Microphthalmia |
ORPHA:1806 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl... |
ORPHA:2334 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615668 |
| Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Peritonitis, Weight loss, Dyspareunia, Menorrhagia |
ORPHA:168816 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup... |
OMIM:620376 |
| Cryptococcosis |
|
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Nodular pattern on pulmonary HRCT, Limb m... |
ORPHA:1546 |
| Lymphatic Malformation 13 |
|
Patent foramen ovale, Neonatal death, Atrial septal defect, Retinopathy of prematurity, Hydrocele... |
OMIM:620244 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... |
ORPHA:95430 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Spina bifida, Ventricular septal defect |
ORPHA:2345 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Cleft soft palate, Hypotelorism |
OMIM:614557 |
| Norrie Disease |
|
Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal detachment, Microphthalmia, Retinal f... |
OMIM:310600 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive |
ORPHA:2169 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate |
OMIM:108721 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... |
OMIM:306955 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Limb muscle weakness, Myopathy, Hypomimic face, Ataxia, Bradykinesia, Dysphagia, Quadriceps muscl... |
ORPHA:254892 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Failure to thrive, Sparse eyelashes, Triangular mouth, Sh... |
OMIM:617988 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Neutropen... |
ORPHA:95455 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... |
OMIM:158330 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Ventricular septal... |
OMIM:616268 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus |
ORPHA:2655 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hyposp... |
OMIM:222470 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Abnormally large globe, Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
| Coffin-Siris Syndrome 5 |
|
Intrauterine growth retardation, Atrial septal defect |
OMIM:616938 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
| Citrullinemia Type Ii |
|
Delayed menarche, Lethargy, Decreased body mass index, Mania |
ORPHA:247585 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Organic aciduria, Failure to thrive, Aspiration pneumonia, Renal tubular acidosis, Pancreatitis, ... |
ORPHA:431361 |
| Ayme-Gripp Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Downslant... |
OMIM:601088 |
| Cholera |
|
Lethargy, Tachypnea, Miscarriage, Deeply set eye |
ORPHA:173 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Hepatosplenomegaly, Abnormal femur morphology, Pleural effusion, Metrorrhagia, Splenom... |
ORPHA:464329 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Optic atrophy, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Optic disc coloboma, Ventricular septal defect |
OMIM:613398 |
| Vacterl With Hydrocephalus |
|
Renal agenesis, Intrauterine growth retardation, Cryptorchidism, Inguinal hernia, Renal hypoplasi... |
ORPHA:3412 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Absent thumb, Short thumb, Ventricular septal defect, Epicanthus, Acute myeloid ... |
OMIM:610832 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
| Cornelia De Lange Syndrome 6 |
|
Highly arched eyebrow, Sparse eyebrow, Short 1st metacarpal, Downslanted palpebral fissures, Atri... |
OMIM:620568 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long philtrum, Decreased response to growth ho... |
OMIM:616007 |
| Specc1L-Related Hypertelorism Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Proptosis, Long philtrum, Downslanted palpebral fissure... |
ORPHA:1519 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Cryptorchidism, Truncus arteriosus, Ventr... |
OMIM:609029 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ... |
ORPHA:273 |
| Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
| Monosomy 9Q22.3 |
|
Umbilical hernia, Downslanted palpebral fissures, Large for gestational age, Cardiac fibroma, Nep... |
ORPHA:77301 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:27 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
| Bcard Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, H... |
OMIM:612394 |
| Penile Agenesis |
|
Cryptorchidism, Ventricular septal defect, Urethral atresia, male, Urethral fistula, Atrial septa... |
ORPHA:49 |
| Marcus-Gunn Syndrome |
|
Abnormal heart morphology, Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly |
ORPHA:91412 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Lethargy, Large for gestational age |
ORPHA:263455 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
| Zttk Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Bifid uvula, Abnormality of the dentit... |
OMIM:617140 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in childhoo... |
OMIM:612938 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Cor pulmonale, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue... |
OMIM:158310 |
| Biotinidase Deficiency |
|
Respiratory distress, Conjunctivitis, Lethargy, Apnea |
ORPHA:79241 |
| Zygomycosis |
|
Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Pleur... |
ORPHA:73263 |
| Necrotizing Enterocolitis |
|
Lethargy, Apnea, Small for gestational age |
ORPHA:391673 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Absent gallbladder,... |
OMIM:615710 |
| Kabuki Syndrome 1 |
|
Anoperineal fistula, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Ventri... |
OMIM:147920 |
| Schuurs-Hoeijmakers Syndrome |
|
Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morphology, ... |
OMIM:615009 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Recurrent otitis media, Psoriasiform dermatitis, Recurrent bronchitis, Re... |
ORPHA:293978 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Ureterocele, Cryptorchidism, Epicanthus, Blepharophimosis, Microphthalmia, Hypospa... |
OMIM:616734 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Supernumerary nipple, Epicanthus, Meningocele, Hypospadias, Renal dyspla... |
ORPHA:397715 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pu... |
OMIM:612863 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Hypoxemia, Diabetes mellitus, Acute infectious pneumonia |
ORPHA:140896 |
| Dend Syndrome |
|
Bilateral ptosis, Anteverted nares, Clinodactyly of the 4th finger, Short nose, Elevated hemoglob... |
ORPHA:79134 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Recurrent lower respirato... |
OMIM:615846 |
| Renal Hypoplasia, Bilateral |
|
Lethargy, Cryptorchidism, Small for gestational age, Failure to thrive |
ORPHA:97362 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
| Blomstrand Lethal Chondrodysplasia |
|
Mesomelia, Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Flared metaphysis, Distal sho... |
ORPHA:50945 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic val... |
OMIM:617751 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Lethargy, Ptosis |
OMIM:607483 |
| Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hepatomegaly, Acrocyanosis, Lipoatr... |
ORPHA:349 |
| White Forelock With Malformations |
|
Spina bifida occulta, Atrial septal defect |
ORPHA:2475 |
| Isolated Arrhinia |
|
Underdeveloped nasal alae, Midline defect of the nose, Eyelid coloboma, Aplasia/Hypoplasia of the... |
ORPHA:1134 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... |
OMIM:611561 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, B... |
ORPHA:60 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Epicanthus, Failure to thrive, Short nose, Wide nose |
OMIM:615851 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... |
OMIM:123000 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism |
ORPHA:466926 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Optic atrophy, Clitoral hypertrophy, Fused labia minora, Secundum atrial septal defect |
OMIM:608688 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... |
OMIM:601927 |
| Myhre Syndrome |
|
Aortic valve stenosis, Clinodactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect, ... |
OMIM:139210 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... |
ORPHA:3097 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect |
OMIM:614815 |
| Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
| Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Ventricular septal defect, Hydrocephalus, Microphthalmia, Iris coloboma |
ORPHA:268249 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| Osteogenesis Imperfecta, Type Ii |
|
Abnormal pelvic girdle bone morphology, Congestive heart failure, Broad long bones, Tibial bowing... |
OMIM:166210 |
| Noonan Syndrome 1 |
|
Clinodactyly, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Synovitis,... |
OMIM:163950 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Apnea, Upslanted palpebral fissure, Death in infancy, Lethargy, Ptosis |
OMIM:252010 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Apnea |
OMIM:229700 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorchidism, Atrial septal defect, Re... |
ORPHA:857 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251110 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Umbilical hernia |
OMIM:618205 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Small for gestational age, Failure to thrive |
OMIM:609015 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Epicanthus, High palate, Short foot, ... |
OMIM:614527 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Abnormal heart morphology, Loss of ambulation, Motor stereotypy, Hyperhidro... |
ORPHA:79264 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Degenerative vitreoretinopathy, Ventricular septal defect |
OMIM:607598 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Depressed nasal bridge, Uterus didelphys, Short tibia, Preaxial polydactyly, Tetralogy of Fallot,... |
OMIM:617925 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Cryptorchidism, Humeroradial synostosi... |
ORPHA:2879 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Iris coloboma, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
ORPHA:52055 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Congenital defect of the pericardium, Umbilical hernia, Abnormal heart mor... |
ORPHA:1686 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Death in childhood, Ventricular septal defect, Epicanthus, Atrial ... |
OMIM:309500 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Endometriosis, Perimembranous vent... |
ORPHA:363444 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Iris coloboma, Patent foramen ovale |
ORPHA:88630 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Lethargy, Apathy, Weight loss, Tachypnea |
ORPHA:20 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Atrial septal defect, Neonata... |
ORPHA:2255 |
| Christian Syndrome |
|
Wide nasal bridge, Glucose intolerance |
OMIM:309620 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Pentalogy Of Cantrell |
|
Hypospadias, Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular sep... |
ORPHA:1335 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Short palpebral fissure, Long philtrum, Telecanthus, Epicanthus, Wide ... |
ORPHA:251061 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Situs inversus totalis, Partial atrioventricular canal defect, Reduced progressive s... |
OMIM:619608 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Obesity, Upslanted palpebral fissure, Deeply set eye, Wide mouth, Short nose |
ORPHA:293948 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Truncus art... |
ORPHA:96170 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous... |
OMIM:614162 |
| Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia of the maxilla, Narrow... |
OMIM:608328 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Wide nasal bridge, Depressed nasal bridge, Accessory spleen, Cholestatic liver disease, Hypoglyce... |
OMIM:619418 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Branchial cyst, Ventricular... |
ORPHA:508488 |
| Cockayne Syndrome A |
|
Cryptorchidism, Hip contracture, Reduced subcutaneous adipose tissue, Ataxia, Hepatomegaly, Irreg... |
OMIM:216400 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Cryptorchidism, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Atrial septal defect,... |
OMIM:601776 |
| Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Downslanted palpebral fissures... |
ORPHA:87 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Anteverted nares, Apnea, Open mouth, Gingival overgrowth, Lethargy |
OMIM:620423 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Toriello-Carey Syndrome |
|
Short palpebral fissure, Sparse eyebrow, Clinodactyly, Cardiomyopathy, Anteriorly placed anus, Te... |
ORPHA:3338 |
| Filippi Syndrome |
|
Optic atrophy, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect |
ORPHA:3255 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal d... |
OMIM:606003 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... |
OMIM:307800 |
| Sarcoidosis |
|
Abnormal pleura morphology, Abnormal reproductive system morphology, Weight loss, Abnormal nasal ... |
ORPHA:797 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Failure to thrive |
OMIM:251100 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Darier-White Disease |
|
Enlargement of parotid gland, Bipolar affective disorder |
OMIM:124200 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Pleural empyema, Abnormal circulating chemokine concentration, Acute kidn... |
ORPHA:544482 |
| Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Irregular dentition, Ep... |
ORPHA:314679 |
| Cowden Syndrome 5 |
|
Cataract, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, High palate |
OMIM:615108 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hypospadias, Patent ductus arteriosus |
OMIM:218350 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect |
ORPHA:1166 |
| Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Lethargy, Thyroid hypoplasia, Goiter |
ORPHA:226316 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... |
ORPHA:391487 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Choanal atresia, Sparse eyebrow, Small hand, Underdeveloped nasal alae, Abdo... |
ORPHA:2108 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Retinal coloboma, Occipital meningocele, Hydrocephalus, Atrial septal defect, Micropenis, Anencep... |
OMIM:616546 |
| Duane Retraction Syndrome |
|
Blepharospasm, Wide nasal bridge, Microcornea, Short palpebral fissure, Chorioretinal coloboma, C... |
ORPHA:233 |
| Listeriosis |
|
Arteritis, Abscess, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, ... |
ORPHA:533 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma... |
OMIM:609049 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Somatomammotropinoma |
|
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Dysmenorrhea, El... |
ORPHA:314769 |
| Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Splenomegaly, Anemia, Arthritis, Hepatomegaly, Increased circulating IgM... |
ORPHA:37748 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... |
ORPHA:392 |
| Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma, Microphthalmia |
ORPHA:1553 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Hydranencephaly |
|
Atrophic pituitary gland, Lethargy, Hypotelorism |
ORPHA:2177 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, Death in infancy, Truncus ... |
ORPHA:2008 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased circulating prol... |
ORPHA:95613 |
| Proboscis Lateralis |
|
Unilateral narrow palpebral fissure, Anophthalmia, Ventricular septal defect, Abnormal nasolacrim... |
ORPHA:141099 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... |
OMIM:617660 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality |
OMIM:607485 |
| Meconium Aspiration Syndrome |
|
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Overriding aorta, Double outlet right ventricle, Atrial sept... |
ORPHA:3304 |
| Stickler Syndrome |
|
Open bite, Micrognathia, Epicanthus, Short hard palate, Short nose, Cataract, Hypoplasia of the m... |
ORPHA:828 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating... |
OMIM:615962 |
| African Trypanosomiasis |
|
Myelopathy, Difficulty walking, Hepatosplenomegaly, Weight loss, Hepatomegaly, Urinary incontinen... |
ORPHA:3385 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology |
OMIM:607634 |
| Garg-Mishra Progeroid Syndrome |
|
Slender metacarpals, Bulbous nose, Prominent nasal bridge, Microvesicular hepatic steatosis, Micr... |
OMIM:620601 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Epistaxis, Cardiomyopathy, Abnormal dental enamel morphology, Long eyelashes, R... |
ORPHA:79430 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Tip-toe gait, Aspiration pneumonia, Inability to walk, Attention deficit hyperactivity disorder, ... |
ORPHA:216866 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Lynch Syndrome |
|
Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Death in early adulthood, Intestinal po... |
ORPHA:144 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
| Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, Aspiration pneumonia, Intrauterine growt... |
ORPHA:79255 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Dilatation of the renal pelvis, Poly... |
OMIM:619708 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Abnormality of the orbital ... |
ORPHA:322 |
| Geroderma Osteodysplasticum |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Downslanted palpebral fis... |
OMIM:231070 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Downslanted palpebral fissures, Ep... |
ORPHA:2673 |
| Momo Syndrome |
|
Wide nasal base, Bilateral microphthalmos, Downslanted palpebral fissures, Obesity, Large for ges... |
ORPHA:2563 |
| Immunodeficiency 47 |
|
Death in infancy, Failure to thrive, Hypotelorism |
OMIM:300972 |
| Isolated Complex I Deficiency |
|
Lethargy, Ptosis, Failure to thrive |
ORPHA:2609 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Retinal degeneration |
ORPHA:542306 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale |
OMIM:616789 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Intercrural pterygium, Popliteal pterygium, Ankyloblepharon, Bifid uvula, Bifid sc... |
OMIM:119500 |
| Papillorenal Syndrome |
|
Macular degeneration, Optic disc coloboma, Retinal coloboma, Chorioretinal atrophy, Macular hyper... |
OMIM:120330 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... |
OMIM:613027 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Sparse eyebrow, Absent nipple, Cleft lip, Lacrimal duct atresia, Breast aplasia, Abs... |
ORPHA:69085 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Abnormal cortical gyration, Contractures of the large joints, Failure to thrive, Short nose, Cong... |
OMIM:617527 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Short nose |
OMIM:614524 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Micropenis, Atrial septal d... |
OMIM:618280 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Clinodactyly, Narrow naris, Postnatal growth retardation, Enlarged labia mi... |
OMIM:268300 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Chorioretinal coloboma |
OMIM:620194 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae |
OMIM:602196 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Retinal degeneration,... |
ORPHA:166035 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale, Ventricular... |
ORPHA:477817 |
| Keutel Syndrome |
|
Optic atrophy, Ventricular septal defect |
ORPHA:85202 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Cryptophthalmos, Thin vermilion bord... |
ORPHA:920 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Chronic rhinitis, Immotile sperm, Sinusitis, Absent respiratory ciliary axoneme ... |
OMIM:242670 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism, Short stature, Microphthalmia, Ataxia |
OMIM:610651 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Bilateral cryptorchidism, Decreased testicular size, Intrauterine growth retardation, Cryptorchid... |
OMIM:300998 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Endocardial fibroelastosis, Patent foramen ovale, Pericardial ef... |
ORPHA:60041 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Phthisis bulbi, Buphthalmos, Remnants of the hyaloid vascular system, Micr... |
OMIM:221900 |
| Alagille Syndrome |
|
Keratoconus, Downslanted palpebral fissures, Abnormal pupil morphology, Micrognathia, Long nose, ... |
ORPHA:52 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Lethargy, Hypoparathyroidism |
ORPHA:746 |
| 17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Cryptorchidism, Shawl scrotum, Pancreatic aplasia |
ORPHA:261265 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... |
ORPHA:1452 |
| Cowden Syndrome 6 |
|
Cataract, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, High palate |
OMIM:615109 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Multiple muscular ventricular septal defects, Atrial septal defect, Death i... |
OMIM:620070 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nippl... |
OMIM:601803 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Panc... |
ORPHA:2072 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her... |
OMIM:600001 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Intrauterine growth retardation, Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:617452 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Polyclonal eleva... |
ORPHA:171 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Apnea, Failure to thrive |
ORPHA:395 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe, Secundum atrial septal defect |
ORPHA:96190 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
| Gaucher Disease |
|
Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Cirrho... |
ORPHA:355 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon, Microphthalmia |
OMIM:123570 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... |
OMIM:620532 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Intrauterine growth retardation, Secundum atrial septal defect, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Cadds |
|
Cholestasis, Cholangitis, Intrauterine growth retardation, Short nose |
ORPHA:369942 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Macroglossia, Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Long philtrum, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanth... |
OMIM:615877 |
| Mietens Syndrome |
|
Wide nasal bridge, Avascular necrosis of the capital femoral epiphysis, Coxa valga, Hypoplasia of... |
ORPHA:2557 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism, Ventri... |
ORPHA:3306 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Postnatal growth retardation, Genu valgum, Crypto... |
OMIM:309000 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchi... |
ORPHA:438213 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Elevated circulating th... |
OMIM:618183 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... |
OMIM:613987 |
| Aicardi Syndrome |
|
Precocious puberty, Recurrent pneumonia, Sparse lateral eyebrow, Pachygyria, Polymicrogyria, Post... |
OMIM:304050 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Bifid scrotum, Encephalocele, Exencephaly, Shawl scrotum, Hypospadias,... |
ORPHA:2211 |
| Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent respiratory infections |
OMIM:611521 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Tarp Syndrome |
|
Optic atrophy, Tetralogy of Fallot, Intrauterine growth retardation, Neonatal death, Atrial septa... |
OMIM:311900 |
| Arterial Tortuosity Syndrome |
|
Short palpebral fissure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Avascular necrosis ... |
ORPHA:3342 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:618354 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Difficulty walking, Leukocytosis, Steppage gait, Abnormal calf musculature morphology, Gait distu... |
ORPHA:206594 |
| Tetragametic Chimerism |
|
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... |
ORPHA:199310 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Failure to thrive in infancy, Broad eyebrow, Clubbing, Colitis, Bronchiectasis |
OMIM:301220 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618870 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decreased circulat... |
ORPHA:169105 |
| White-Sutton Syndrome |
|
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Rod-cone dystrophy, ... |
OMIM:616364 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Retinal vascular tortuosity, Bilateral cryptorchidism, Papilledema, Atrial sep... |
OMIM:619471 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... |
OMIM:301043 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Lymphopenia, Femoral bowing, Macrocy... |
OMIM:250250 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Cryptorchidism, Patent foramen ovale, Atrial septal defect, Pate... |
OMIM:620327 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hypoglycemia, Hepatic steatosis, Ven... |
OMIM:614921 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... |
OMIM:600987 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Failure to thrive, Splenomegaly, Death in infancy, Anemia, Thrombocytopenia, Hepat... |
OMIM:230900 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Posterior Urethral Valve |
|
Lethargy, Abnormal nasal morphology, Hypertelorism |
ORPHA:93110 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Death in infancy, Ventricular septal defect |
OMIM:147800 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect |
ORPHA:1842 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Sudden episodic apnea |
ORPHA:159 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Lethargy, Failure to thrive, Death in infancy |
OMIM:617156 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Failure to thrive, Long philtrum, Apnea, Tented upper lip vermilion, Smooth philtrum, High palate... |
ORPHA:521426 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Primrose Syndrome |
|
Genu valgum, Cryptorchidism, Hip contracture, Epicanthus, Ataxia, Tics, High palate, Restlessness... |
OMIM:259050 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypoplasia of the musculature, Aspiration pneumonia, Hip contracture, Talipes equinovarus, Weight... |
ORPHA:2020 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Meningococcal Meningitis |
|
Lethargy |
ORPHA:33475 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:505237 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Shawl scrotum, Ventricular septal defect |
ORPHA:2256 |
| Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Villous atrophy, Death in childhood, Lethargy, Pancreatic fibrosis, Steatorrhe... |
OMIM:557000 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Absent external genitalia, Pulmonary hypoplasia, Renal agenesis, Adrenal gland a... |
OMIM:273395 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Clinodactyly of the 5th finger, Shallow orbits, Decreased body weight |
OMIM:617306 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis |
OMIM:147050 |
| Seckel Syndrome 10 |
|
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Elevated circulating luteinizing... |
OMIM:617253 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Respiratory distress, Smooth philtrum, Lethargy, Glossitis, Stomatitis |
ORPHA:79282 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia, Choking episodes, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait, F... |
ORPHA:35069 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Depressed nasal ridge, Growth delay, Hypoglycemia, Ectopic anterior ... |
ORPHA:90695 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Polydactyly, Bowing of the long bones, Post... |
OMIM:614091 |
| Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
| Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Aspiration pneumonia, Inability to walk, Agammaglobulinemia, Attention deficit hy... |
ORPHA:52368 |
| Fg Syndrome Type 1 |
|
Umbilical hernia, Cryptorchidism, Mitral valve prolapse, Hydrocephalus, Atrial septal defect, Hyp... |
ORPHA:93932 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2516 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Proptosis, Narrow mouth, Convex nasal ridge, Short nose |
ORPHA:90154 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Narrow palate, Hypoplasia of the maxilla, Dental malocclusion, Downslanted palpebral fissures, Te... |
OMIM:182212 |
| Norrie Disease |
|
Self-injurious behavior, Uterine rupture, Failure to thrive, Hypoplasia of the iris, Narrow nasal... |
ORPHA:649 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Epicanthus, Atrial septal defect, Bilateral renal dysplasia, ... |
ORPHA:500150 |
| Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Skin rash, Thrombocytopenia, Increased circulating IgG level, Ma... |
ORPHA:83313 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Hydrocephalus, Retinal dystrophy, Microphthalmia |
OMIM:616538 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea |
OMIM:253270 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Am... |
OMIM:617159 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Abdominal situs inversus, Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Abnormal pelvic girdle bone morphology, Fractures of the long bones |
OMIM:166600 |
| Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Thick lower lip vermilion |
OMIM:613804 |
| Insulin-Like Growth Factor I, Resistance To |
|
Intrauterine growth retardation, Rieger anomaly, Patent foramen ovale, Ventricular septal defect,... |
OMIM:270450 |
| Doors Syndrome |
|
Wide nasal base, Aspiration pneumonia, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges o... |
ORPHA:79500 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... |
ORPHA:2237 |
| Oculo-Palato-Cerebral Syndrome |
|
Intrauterine growth retardation, Retinal detachment, Remnants of the hyaloid vascular system, Mic... |
ORPHA:2714 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Horizontal eyebrow, Almond-shaped palpebral fissure, Thin upper lip vermilion, Epicanthus, Promin... |
ORPHA:522077 |
| Encephalitis Lethargica |
|
Lethargy, Autoimmunity |
ORPHA:83600 |
| Dyskeratosis Congenita |
|
Cataract, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leukoplakia, Abnormality ... |
ORPHA:1775 |
| Dextrocardia |
|
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of ... |
ORPHA:1666 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Prominent nos... |
ORPHA:96191 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Developmental And Epileptic Encephalopathy 95 |
|
Umbilical hernia, Inappropriate laughter, Inguinal hernia, Multiple joint contractures, Cryptorch... |
OMIM:618143 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Hepatic steatosis |
OMIM:255120 |
| Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... |
OMIM:616564 |
| Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Double outlet right v... |
OMIM:301056 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Lethargy, Thyroid hypoplasia |
ORPHA:90673 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Papilled... |
OMIM:618775 |
| Curry-Jones Syndrome |
|
Anal stenosis, Broad thumb, Intestinal pseudo-obstruction, Preaxial hand polydactyly, Intestinal ... |
OMIM:601707 |
| Zellweger Syndrome |
|
Optic atrophy, Clitoral hypertrophy, Cryptorchidism, Death in infancy, Ventricular septal defect,... |
ORPHA:912 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... |
OMIM:301078 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Epicanthus, Carpal bone hypoplasia, Tibial metaphyseal irregularity... |
ORPHA:457395 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:301039 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Postnatal growth retardation, Generalized lipodystrophy, Genu valgum,... |
OMIM:619127 |
| Trichinellosis |
|
Conjunctival hyperemia, Conjunctivitis, Lethargy, Apathy |
ORPHA:863 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, A... |
ORPHA:254346 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy |
OMIM:620306 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal dental pulp morphology, Long philtrum, Thick vermilion border, Hypotelorism, Epicanthus,... |
ORPHA:363700 |
| Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Microphthalmia |
OMIM:614402 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... |
ORPHA:185 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j... |
ORPHA:51 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture, Cryptorchidism, Anophthalmia... |
OMIM:607932 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect |
OMIM:619721 |
| Maple Syrup Urine Disease, Type Ia |
|
Lethargy |
OMIM:248600 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Atrial septal defect, Pulmonic stenosis |
OMIM:611553 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Intrauterine growth retardation, Postnatal growth retardation, Abnorma... |
ORPHA:93325 |
| Phace Syndrome |
|
Retinal vascular malformation, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cardiac s... |
ORPHA:42775 |
| Seckel Syndrome 9 |
|
Clitoral hypertrophy, Intrauterine growth retardation, Ventricular septal defect, Ambiguous genit... |
OMIM:616777 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
| Tay-Sachs Disease |
|
Precocious puberty, Skeletal muscle atrophy, Lower limb muscle weakness, Hip flexor weakness, Ina... |
ORPHA:845 |
| Geleophysic Dysplasia 2 |
|
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Hypertelorism, Short nose |
OMIM:614185 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Epicanthu... |
ORPHA:959 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Van Den Ende-Gupta Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Dental crowding, Abnormal eyebrow morphology, Mic... |
OMIM:600920 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Death in childhood |
OMIM:618321 |
| Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology, Ventricular septal defect |
ORPHA:1782 |
| Distal Triplication 15Q |
|
Abnormal heart morphology, Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, ... |
ORPHA:314588 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Pneumonia, Recurrent upper respiratory tract infections, Depressed nasal bri... |
OMIM:253200 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar... |
ORPHA:95494 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Increased circulating IgE level, Multiple muscular ventricular septal defects,... |
OMIM:615508 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Keratitis, Keratoconjunctivitis sicca, Entropion, Microphthalmia, Ectropion, Conjunctivitis |
OMIM:278730 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... |
OMIM:608940 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Branch... |
ORPHA:453499 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythro... |
OMIM:614328 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Micropenis, Patent ductus arteri... |
ORPHA:2519 |
| Glycerol Kinase Deficiency |
|
Downturned corners of mouth, Cryptorchidism, Lethargy, Hypertelorism, Small for gestational age |
OMIM:307030 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion |
OMIM:607371 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Wide nasal bridge, Eczematoid dermatitis, Atelectasis, Increased circulating IgE leve... |
ORPHA:2314 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Imperforate hymen, Tetralogy of Fallot, Encephaloc... |
OMIM:100300 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Anophthalm... |
OMIM:305600 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... |
ORPHA:79404 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Myocardial necrosis, Increased red blood cell count, Restlessness, Granuloma, Intraren... |
ORPHA:68 |
| Orofaciodigital Syndrome Type 2 |
|
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso... |
ORPHA:2751 |
| Incontinentia Pigmenti |
|
Keratitis, Finger syndactyly, Deviation of finger, Supernumerary nipple, Camptodactyly of finger,... |
ORPHA:464 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:71212 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Lacrimal duct atresia, His... |
OMIM:300952 |
| Geleophysic Dysplasia 1 |
|
Wide nasal bridge, Aortic valve stenosis, Joint contracture of the hand, Irregular capital femora... |
OMIM:231050 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Scleritis, Weight loss, Anorexia, Tubulointerstitial nephri... |
ORPHA:91500 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Polymicrogyria, Pachygyria, Hypoketotic hypoglycemia, Hepatic steatosis, Cardiome... |
ORPHA:228308 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Secundum atrial septal defect, Atrial septal defect, Cryptorchidism |
OMIM:618109 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Joint swelling, Skin rash, Increased proportion of CD... |
OMIM:617099 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect |
OMIM:617635 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Radiou... |
ORPHA:536467 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect |
ORPHA:500533 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growt... |
OMIM:610505 |
| Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Pulmonic stenosis, Sex reversal |
ORPHA:139466 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ventricular septal defect |
OMIM:615673 |
| Contractural Arachnodactyly, Congenital |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... |
OMIM:121050 |
| Molybdenum Cofactor Deficiency, Type A |
|
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... |
OMIM:252150 |
| Kury-Isidor Syndrome |
|
Exudative vitreoretinopathy, Ventricular septal defect |
OMIM:619762 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Cowden Syndrome 1 |
|
Cataract, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, High palate |
OMIM:158350 |
| Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Retinal infarction, Atrial septal defect, Cryptorchidism |
OMIM:613834 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
| Mowat-Wilson Syndrome |
|
Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Prominen... |
OMIM:235730 |
| Chronic Graft Versus Host Disease |
|
Xerostomia, Abnormal vagina morphology, Pancytopenia, Hematuria, Weight loss, Anorexia, Bronchiol... |
ORPHA:99921 |
| Cirrhosis, Familial |
|
Lethargy, Esophageal varix |
OMIM:215600 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... |
OMIM:618213 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
| Distal Deletion 19P |
|
Short philtrum, Hypoplasia of the maxilla, Thick eyebrow, Cleft palate |
ORPHA:96129 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Intrauterine growth retardation, Left ventricular hypertrophy, Atrial septal defect, Retinopathy ... |
OMIM:620510 |
| Primary Biliary Cholangitis |
|
Xanthelasma, Increased circulating IgA level, Cirrhosis, Hepatomegaly, Celiac disease, Jaundice, ... |
ORPHA:186 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... |
ORPHA:562639 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Bilateral c... |
ORPHA:1600 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale |
OMIM:614582 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Aortic regurgitation, Hypoplastic scapulae, Varus deformity ... |
OMIM:252500 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Depressed nasal bridge, Abnormal heart valve morphology, Ventricular septa... |
ORPHA:363705 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Rift Valley Fever |
|
Macular edema, Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Jaundice, Miscarriage, T... |
ORPHA:319251 |
| Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Umbilical hernia |
ORPHA:404443 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive |
OMIM:201470 |
| De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Bilateral coxa valga |
OMIM:278800 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Abnormal heart m... |
ORPHA:99885 |
| Ramos-Arroyo Syndrome |
|
Choriocapillaris atrophy, Chorioretinal atrophy, Aganglionic megacolon, Atrial septal defect, Abn... |
ORPHA:1051 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short stature, Increased circulating IgE level, Short distal phalanx of finger, Brachydactyly |
ORPHA:1858 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Smooth philtrum, Lethargy, Small for gestational age, Failure to thrive |
OMIM:277400 |
| Basal Cell Nevus Syndrome 1 |
|
Wide nasal bridge, Irregular ossification of hand bones, Short distal phalanx of the thumb, Cardi... |
OMIM:109400 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pul... |
OMIM:610733 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Cryptorchidism, Neonatal death, Ventricular septal defect, Atrial septal... |
OMIM:620024 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210210 |
| Familial Multiple Lipomatosis |
|
Coloboma, Abnormal tricuspid valve morphology, Chorioretinitis |
ORPHA:199276 |
| Refsum Disease, Classic |
|
Cardiomegaly, Anosmia, Cardiomyopathy |
OMIM:266500 |
| Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Highly arched eyebrow, Depressed nasal bridge, Bilateral coxa valga, Oligosacchariduri... |
ORPHA:309282 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Protruding tongue, Aspiration pneumonia |
ORPHA:53351 |
| Familial Hypoaldosteronism |
|
Lethargy, Failure to thrive |
ORPHA:427 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Broad long bones, Abnormal shoulder morphology, Short pha... |
ORPHA:1422 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Generalized amyotrophy, Skeletal muscle atrophy, Micronodular cirrhosis, Aspiration pneumonia, As... |
OMIM:301072 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Spina bifida occulta, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d... |
OMIM:617360 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion |
ORPHA:79107 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Thick vermil... |
OMIM:613805 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Encep... |
OMIM:613150 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Hydrometrocolpos, Tetralogy of Fallot, Glandular hypospadias, Cryptorchid... |
ORPHA:2473 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
| Nance-Horan Syndrome |
|
Prominent nose, Prominent nasal bridge, Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Retinal coloboma, Umbilical hernia, Ventricular septal defect, Bicuspid ... |
OMIM:620654 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive |
OMIM:275350 |
| Spondyloocular Syndrome |
|
Mitral valve prolapse, Retinal detachment, Atrial septal defect, Dysplastic aortic valve, Unilate... |
OMIM:605822 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Ventricular septal defect, Rod-cone dystrophy, Retinal degene... |
OMIM:250410 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Atrophic scars, Scarring |
ORPHA:89843 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Monosomy 13Q14 |
|
Wide nasal bridge, Finger syndactyly, Intrauterine growth retardation, Prominent nasal bridge, Ep... |
ORPHA:1587 |
| Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Downslanted palpebral fissures, Tel... |
ORPHA:2462 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Umbilical hernia, Large placenta, Ventricular septal defect |
ORPHA:254534 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Microp... |
OMIM:158170 |
| Alagille Syndrome 2 |
|
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis |
OMIM:610205 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomy... |
OMIM:613673 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Omphalocele,... |
OMIM:617022 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Abnormality of the dentition, Bulbous nose, Anteverted nares, Short denta... |
OMIM:271510 |
| Noonan Syndrome 13 |
|
Cryptorchidism, Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ... |
ORPHA:958 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Micronodular cirrhosis, Corneal scarring, Impaired ora... |
ORPHA:404454 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Optic atrophy, Hypoplastic left heart, Umbilical hernia, Mitral atresia, I... |
OMIM:618164 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Loss of truncal subcutaneous adipose tissue, Abnormal columella morphology, Cardiomegaly, Abnorma... |
ORPHA:2463 |
| Cantú Syndrome |
|
Wide nasal bridge, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology... |
ORPHA:1517 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Epicanthus, Talipes equinovarus... |
OMIM:194190 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... |
OMIM:615067 |
| Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Oral ulcer, Antinuclear antibody positivity, Weight loss, Palpebral... |
ORPHA:50918 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Cryptorchidism, Ventricular septa... |
OMIM:615948 |
| Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Narrow mouth, Epicanthus, High palate, High, narrow palate, Cataract, Hypoplasia of... |
OMIM:180849 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Increased circulating IgG4 level... |
ORPHA:449427 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Microphthalmia, Anemia, Anal atresia |
OMIM:617244 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Molybdenum Cofactor Deficiency, Type B |
|
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... |
OMIM:252160 |
| X Small Rings |
|
Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Primary amenorrhea, Premature ... |
ORPHA:96201 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Ectopic thymus tissue, Postnatal growth retardation, Cryptorchidism, Anopht... |
OMIM:113620 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Intestinal obstruction, Peritonitis, Increased circulating IgA lev... |
ORPHA:343 |
| Limb Body Wall Complex |
|
Iris coloboma, Abnormal heart morphology, Myelomeningocele, Encephalocele, Short umbilical cord, ... |
ORPHA:2369 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in childhood, Death in infancy, Ventricular septal defect |
OMIM:616901 |
| Bohring-Opitz Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Abnormal optic nerve morphology, Ventricul... |
OMIM:605039 |
| Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... |
ORPHA:284227 |
| Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:613706 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Displacement of the urethral meatus, Ventricular sep... |
ORPHA:1727 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect |
OMIM:618798 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Tachypnea, Failure to thrive |
ORPHA:415 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Ventricular septal defect |
OMIM:620511 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Peripheral opacification of the cornea, Mic... |
OMIM:259600 |
| Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus |
OMIM:617190 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect, Retinal dystrophy |
OMIM:615802 |
| Al Kaissi Syndrome |
|
Intrauterine growth retardation, Atrial septal defect |
OMIM:617694 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Vitreoretinopathy, Ventricular septal defect, Phthisis bulbi, Exudative retinopathy, Microphthalm... |
OMIM:259770 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly |
OMIM:617713 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro... |
ORPHA:90324 |
| Rodrigues Blindness |
|
Narrow nasal bridge, Microphthalmia |
OMIM:268320 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... |
OMIM:308050 |
| Phaver Syndrome |
|
Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2876 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Death in infancy, Ventricular... |
ORPHA:1393 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Valvular pulmonary stenosis, Intrauterine growth retardation, Septate vagin... |
OMIM:300707 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Shawl scrotum, Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus |
ORPHA:261279 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Overriding aorta, Patent ductus arteriosus, Ventricular septal d... |
OMIM:617021 |
| Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti... |
OMIM:245600 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... |
OMIM:601346 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Death in infancy, Truncus arteriosus, Ventricular septal defect, Atrial sept... |
OMIM:617478 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High... |
OMIM:147060 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Abnormal mitral valve morphology, Umbilica... |
ORPHA:1292 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Atrial septal defect |
ORPHA:459061 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect |
ORPHA:1860 |
| Neuroocular Syndrome 1 |
|
Hooded upper eyelid, Ankyloglossia, Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Hyper... |
OMIM:619539 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis, Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
| Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Hypospadias, Ventricular septal defect |
ORPHA:1923 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Decreased circulating antibody level, Pleural effusion, Splenom... |
ORPHA:29073 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atr... |
OMIM:617506 |
| Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Patent foramen ovale, Neonatal death, Ventricular septal defect,... |
OMIM:269860 |
| Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of re... |
ORPHA:50 |
| Fucosidosis |
|
Depressed nasal bridge, Splenomegaly, Cardiomegaly, Hernia, Hepatomegaly, Vacuolated lymphocytes,... |
OMIM:230000 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
| Recombinant 8 Syndrome |
|
Small scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe... |
ORPHA:96167 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:300963 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Pigmentary retinopathy, Clitoral hypertrophy, Death in childhood, Cryptorchidism, Ventricular sep... |
OMIM:214100 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Coloboma, Hydroce... |
OMIM:253280 |
| Incontinentia Pigmenti |
|
Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of t... |
OMIM:308300 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Menorrhagia |
OMIM:139090 |
| Wiedemann-Steiner Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
| Citrullinemia, Classic |
|
Lethargy, Failure to thrive |
OMIM:215700 |
| Double Outlet Left Ventricle |
|
Cyanosis, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulm... |
ORPHA:3427 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... |
OMIM:619183 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad phalanx, High palate, Short metacarpal, Short nose, Depressed nasal ridge, Enlarged naris, ... |
OMIM:271665 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Meningocele, Iris coloboma |
ORPHA:2789 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy |
OMIM:616866 |
| Acromesomelic Dysplasia 1 |
|
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... |
OMIM:602875 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular ... |
OMIM:612562 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Downslanted palpebral fissures, Micrognathia, Narro... |
OMIM:613803 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Intrauterine growth retardation, Hypospadias, Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
| Aspartylglucosaminuria |
|
Wide nasal bridge, Recurrent respiratory infections, Umbilical hernia, Aspartylglucosaminuria, Sp... |
ORPHA:93 |
| Buratti-Harel Syndrome |
|
Hypospadias, Atrial septal defect, Cryptorchidism |
OMIM:619314 |
| Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Coloboma, Anterior segment of eye aplasia, Microphthalmia |
OMIM:610256 |
| Medulloblastoma |
|
Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
| Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Hypoplasia of the maxilla, Malar flattening, Abnormal nasolacrimal system morpholo... |
OMIM:101400 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral regurgitatio... |
OMIM:142900 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce... |
ORPHA:116 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus... |
OMIM:130720 |
| Neonatal Marfan Syndrome |
|
Wide nasal bridge, High, narrow palate, Ectopia lentis, Downslanted palpebral fissures, Megalocor... |
ORPHA:284979 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Pu... |
ORPHA:3071 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Hypospadias, Clitoral hypertrophy, Atrioventricular canal defect, Intrauterine gro... |
ORPHA:818 |
| Cleidocranial Dysplasia 1 |
|
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... |
OMIM:119600 |
| Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Situs inversus totalis, Secundum atrial septal defect |
OMIM:202650 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Unsteady gait, Reduced social reciprocity, Ataxia |
OMIM:256600 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal optic nerve morphology, Abnormal heart morphology, Branchial anomaly, Cryptorchidism, Ve... |
ORPHA:352665 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal optic nerve morphology, Abnormal heart morphology, Branchial anomaly, Cryptorchidism, Ve... |
ORPHA:453504 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Meier-Gorlin Syndrome 1 |
|
Short palpebral fissure, Hypoplasia of the maxilla, Long eyelashes, Micrognathia, Narrow mouth, M... |
OMIM:224690 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Iris coloboma, Atrial septal defect |
ORPHA:436003 |
| Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duo... |
ORPHA:722 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale |
OMIM:614823 |
| Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Cryptorchidism, Atrial septal defect, Micropenis, Patent ductus arteriosus |
OMIM:609625 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Ellis Van Creveld Syndrome |
|
Abnormal morphology of female internal genitalia, Atrioventricular canal defect, Abnormal heart v... |
ORPHA:289 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pericardial ef... |
OMIM:235510 |
| Orofaciodigital Syndrome V |
|
Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Unila... |
OMIM:174300 |
| Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
| Frank-Ter Haar Syndrome |
|
Abnormally large globe, Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal ... |
OMIM:249420 |
| 20Q13.33 Microdeletion Syndrome |
|
Decreased scrotal rugation, Abnormal cardiac ventricle morphology, Hypospadias, Atrial septal defect |
ORPHA:261311 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia |
ORPHA:261197 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... |
OMIM:107480 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Cryptorchidism, Optic nerve hypoplasia |
ORPHA:261250 |
| Kufor-Rakeb Syndrome |
|
Blepharospasm, Lethargy, Apathy, Bradykinesia, Eyelid apraxia |
ORPHA:306674 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Intrauterine growth retardation, Large placenta, Ventricular septal de... |
ORPHA:1708 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Left ventricular hypertrophy, Atrial septal defect, Mitral valve... |
ORPHA:230851 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma, Short st... |
OMIM:270300 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Short nose |
OMIM:277450 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Fused labia minora, Hydrocephalus, Atrial septal defect, Vaginal atresia |
OMIM:207410 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Fibular hypoplasia, Dumbbell-shaped long bone, Increased ... |
ORPHA:3144 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Hyposp... |
ORPHA:217346 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect... |
ORPHA:464311 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated ... |
OMIM:260920 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Supernumerary nipple, Camptodactyly of finger, Telecanthus, Microphthalmia, Tapered ... |
ORPHA:1236 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
| Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Umbilical hernia |
OMIM:251290 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent du... |
OMIM:610759 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Premature ovarian insufficiency, Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Ventricular septal defect, Mitral valve prolapse, Retinal coloboma |
OMIM:617107 |
| Argininosuccinic Aciduria |
|
Lethargy, Failure to thrive |
OMIM:207900 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Aspiration pneumonia, Leukocytosis, Agitation, Rhabdomyolysis, Proteinuria, ... |
ORPHA:94093 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Goiter, Lethargy, Macroglossia, Thyroid hypoplasia, Ectopic thyroid |
OMIM:218700 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Retinal arterial tortuosity, Cryptorchidism, Patent foramen ovale, Cardiomegaly,... |
OMIM:620371 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Broad nasal tip, Failure of eruption of permanent teeth, Anteverted nares, Enamel hypoplasia, Sho... |
OMIM:272460 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Iris coloboma, Microphthalmia |
OMIM:269400 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... |
OMIM:617205 |
| Neurocardiofaciodigital Syndrome |
|
Tetralogy of Fallot, Atrial septal defect, Optic disc pallor, Double inlet left ventricle, Patent... |
OMIM:619869 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormal diaphysis morp... |
ORPHA:1328 |
| Neurofibroma |
|
Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis |
ORPHA:252183 |
| Asthma, Short Stature, And Elevated Iga |
|
Short stature, Increased circulating IgA level |
OMIM:208600 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Micropenis, Retinal dystrophy |
OMIM:263520 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the uterus, Ventricular septal defect, Bicornuate uterus, Hypospadias, Miscarriage |
ORPHA:2438 |
| Yunis-Varon Syndrome |
|
Toe syndactyly, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Sp... |
OMIM:216340 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Narrow m... |
ORPHA:2554 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormal female external genitalia morphology, Intrauterine growth retardatio... |
ORPHA:2637 |
| Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level |
ORPHA:90368 |
| Lumbar Syndrome |
|
Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup... |
ORPHA:83628 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology |
ORPHA:98977 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Pulmo... |
OMIM:130050 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... |
OMIM:181450 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect |
OMIM:617895 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Hypertelorism |
OMIM:614863 |
| Primary Pulmonary Hypoplasia |
|
Intrauterine growth retardation, Secundum atrial septal defect, Dextrocardia |
ORPHA:2257 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Intrauterine growth retardation, Patent ductus arteriosus, Patent foramen ovale, Ventricular sept... |
OMIM:620113 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Optic disc pallor, Optic atrophy, Ventricular septal defect |
OMIM:614947 |
| Bohring-Opitz Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Congenital contracture, Annular pancre... |
ORPHA:97297 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal diaphysis morphology, Camptodactyly of finger, Brachydactyly, Abno... |
ORPHA:2021 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Hypospadias, Abnormal heart valve morphology, Intrauterine growth retardation, Ret... |
ORPHA:280 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Micropenis, Secundum atrial septal defect, Hydrocephalus, Cryptorchidism |
OMIM:619951 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Optic disc coloboma, Cryptorchidism, Ventricular septal defect, Tricuspid valv... |
ORPHA:261337 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Wide nasal bridge, Underdeveloped nasal alae, Hypogonadism, Prominent nasal bridge, Splenomegaly,... |
ORPHA:163746 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Doubl... |
ORPHA:3426 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increas... |
OMIM:153670 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... |
OMIM:309350 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia |
OMIM:619121 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Underdevelope... |
ORPHA:83617 |
| De Barsy Syndrome |
|
Abnormal fundus fluorescein angiography, Umbilical hernia, Intrauterine growth retardation, Crypt... |
ORPHA:2962 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:397709 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Decreased nerve conduction velocity, Ventri... |
OMIM:616652 |
| Hoxha-Aliu Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect |
OMIM:620662 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Glucose intolerance, Impaired glucose tolerance |
OMIM:610131 |
| Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Umbilical hernia, Tetralogy of Fallot, Cryptorchidism, Ventricular s... |
OMIM:192430 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... |
OMIM:615474 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
| Oeis Complex |
|
Absent scrotum, Cryptorchidism, Talipes equinovarus, Micropenis, Duplicated collecting system, An... |
OMIM:258040 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Intrauterine growth retardation, Atrial septal defect, Pulmonic st... |
OMIM:300867 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Hypospadias, Cryptorchidism, Ventricular septal defect |
OMIM:619103 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental ... |
OMIM:614188 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Retinal coloboma, Mitral valve prolapse, Ventricular septal ... |
ORPHA:500095 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Bone-... |
ORPHA:646 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hypoplasia of the maxilla, Dental crowding, Long philtrum, Narrow mouth, Median cleft palate, Mal... |
OMIM:617402 |
| Lissencephaly Due To Lis1 Mutation |
|
Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Polyhydramnios, Dysgyria, Pos... |
ORPHA:95232 |
| Diamond-Blackfan Anemia 5 |
|
Hypospadias, Ventricular septal defect |
OMIM:612528 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Atrial septal defect... |
OMIM:619268 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Clinodactyly, Recurrent otitis media, Cryptorchidism, Anophthalmia... |
OMIM:309800 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Secundum atrial septal defect |
OMIM:620183 |
| Craniofacioskeletal Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Atrial septal defect,... |
OMIM:300712 |
| Tarp Syndrome |
|
Optic atrophy, Tetralogy of Fallot, Intrauterine growth retardation, Cryptorchidism, Atrial septa... |
ORPHA:2886 |
| Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Cryptorchidism, Ven... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Cryptorchidism, Ven... |
ORPHA:363958 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Death in childhood, Cryptorchidism, Ventricular septal defect, Shawl scrotum... |
OMIM:600460 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... |
OMIM:618278 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormally large globe, Abnormality of the uterus, Cryptorchidism, Ventricular septal defect, Abn... |
ORPHA:1655 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Failure to thrive, Glycosuria, Hypertrophic cardiomyopathy, Exocrine pancreatic insufficiency, Gl... |
OMIM:616539 |
| Coffin-Siris Syndrome 4 |
|
Mitral atresia, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... |
OMIM:614609 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Abnormality of humoral immunity, Difficulty walking, Abscess, Tooth absce... |
ORPHA:642 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Ventricular septal defect |
OMIM:619306 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Facial paralysis, Limb muscle weakness, Respiratory tract infection, Weakness of facia... |
ORPHA:79138 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Intrauterine growth retardation, Ventricular septal defect |
OMIM:614653 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Atrial septal defect, Severe intrauterine growth retardation, Ventricular septal defect |
OMIM:620663 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Aortic valve ... |
OMIM:619895 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
| Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Chorioretinal atrophy, Patent ductus arteriosus |
OMIM:600268 |
| Tick-Borne Encephalitis |
|
Myelitis, Skeletal muscle atrophy, Leukopenia, Abnormal circulating cytokine concentration, Leuko... |
ORPHA:297 |
| Ellis-Van Creveld Syndrome |
|
Cryptorchidism, Atrial septal defect, Common atrium, Hypospadias, Epispadias |
OMIM:225500 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Hand poly... |
OMIM:200980 |
| Laubry-Pezzi Syndrome |
|
Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le... |
ORPHA:99094 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect |
OMIM:619995 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Retrognathia, Downslanted palpebral fissures, Micrognathia, Prominence of the premaxilla, Neonata... |
OMIM:614437 |
| Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Ileitis... |
ORPHA:707 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Anemia, Microphthalmia, Hypoparathyroidism... |
OMIM:127000 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Micropenis, Hypos... |
ORPHA:163979 |
| Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Lethargy, Orchitis |
ORPHA:99826 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Unroofed coronary sinus, Right atrial enlargement, Right ventricular dilatation, Anoma... |
ORPHA:99104 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Atrial septal defect, Cryptorchidism |
ORPHA:85201 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... |
ORPHA:261330 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular sept... |
ORPHA:84064 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect |
OMIM:618162 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defe... |
OMIM:614294 |
| Retinitis Pigmentosa 97 |
|
Iris atrophy |
OMIM:620422 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricular septal defect, Cryptorchi... |
ORPHA:163956 |
| Chime Syndrome |
|
Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arte... |
ORPHA:3474 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Cryptorchidism, Death in infancy, Ventricular septal defect |
OMIM:235255 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Short 1st metacarpal, Shortening of all ph... |
OMIM:114290 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Chorioretinal coloboma, Retinal coloboma, Tetralogy of Fallot, Umbilical hernia, Ventricular sept... |
OMIM:280000 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
| Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
| Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Spina bifida occulta, Facial pals... |
OMIM:300373 |
| Pontocerebellar Hypoplasia Type 7 |
|
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Skeletal muscle atrophy, Microph... |
ORPHA:284339 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect... |
ORPHA:464306 |
| 3Mc Syndrome 1 |
|
Spina bifida occulta, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:257920 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Common atrium |
OMIM:619143 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Wide nasal bridge, Short palpebral fissure, Hypoplasia of the maxilla, Retrognathia, Long philtru... |
ORPHA:96334 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Intrauterine growth retardation, Ventricular septal defect, Ovotestis, Hypospadias, Sex reversal |
OMIM:611812 |
| Codas Syndrome |
|
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Atrial septal defect, R... |
OMIM:600373 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiomyopathy, Intrauterine growt... |
OMIM:270400 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Hardikar Syndrome |
|
Pigmentary retinopathy, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Atrial... |
OMIM:301068 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Optic nerve compression, Ventricular septal defect, Phthisis bulbi, Optic neuropathy |
OMIM:619727 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Emphysema, Ventricular septal defect, Convex nasal ridge, B... |
OMIM:123700 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy, Conjunctival icterus, Impotence |
ORPHA:447 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Intrauterine growth retardation, Chordee, Hypospadias, Atrial septal defect |
OMIM:618891 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Restrictive cardiomyopathy, Abnormal heart morphology, Atrial septal defect, ... |
ORPHA:369837 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Greenberg Dysplasia |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Neonatal death, Stillbirth |
OMIM:215140 |
| Larsen Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Atrial septal defect,... |
OMIM:150250 |
| Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aortopulmonary window, Tr... |
ORPHA:99050 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level... |
OMIM:300291 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Abnormality iris morphology, Retrognathia |
ORPHA:91387 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
| Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:615582 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Complete atrioventricular canal defect, Cryptorchidism, Ventricular septal ... |
OMIM:617063 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Decreased testicular size, Cryptorchidism, Ventricular sept... |
ORPHA:459070 |
| Alagille Syndrome 1 |
|
Pigmentary retinopathy, Tetralogy of Fallot, Chorioretinal atrophy, Ventricular septal defect, At... |
OMIM:118450 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Abnormal mitral valve morphology, Right atrial enlargement, Right ventricular dilatati... |
ORPHA:99103 |
| Cerebellofaciodental Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Hamamy Syndrome |
|
Complete atrioventricular canal defect, Atrial septal defect, Cryptorchidism |
OMIM:611174 |
| Opitz Gbbb Syndrome |
|
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Micropenis, Hypospadias |
OMIM:300000 |
| Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Ectopic scrotum, Cryptorchid... |
ORPHA:227 |
| Poland Syndrome |
|
Encephalocele, Cryptorchidism, Atrial septal defect, Dextrocardia, Spina bifida occulta, Hypospad... |
ORPHA:2911 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Anemia, Cirrh... |
ORPHA:14 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pul... |
OMIM:607721 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Tetralogy of Fallot, Muscular ventricular septal defect, Intrauterine growth retardation, Death i... |
OMIM:210710 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Ring Chromosome 12 Syndrome |
|
Glandular hypospadias, Secundum atrial septal defect, Cryptorchidism, Uterine leiomyoma |
ORPHA:1439 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth, Oligodontia, Microdontia,... |
ORPHA:2044 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis |
OMIM:618223 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Hypospadias, Umbilical hernia, Mitral stenosis, Ventricular septal defect,... |
ORPHA:955 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Intrauterine growth retardation, Situs inversus totalis, Ventricular s... |
ORPHA:2461 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ptosis, Iris atrophy |
OMIM:146500 |
| Tetraamelia Syndrome 2 |
|
Micropenis, Ventricular septal defect |
OMIM:618021 |
| Fructose Intolerance, Hereditary |
|
Lethargy, Failure to thrive |
OMIM:229600 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
| Restrictive Dermopathy 1 |
|
Intrauterine growth retardation, Hydropic placenta, Short umbilical cord, Neonatal death, Atrial ... |
OMIM:275210 |
| Juvenile Polyposis Of Infancy |
|
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Freckled genitalia |
ORPHA:79076 |
| Linear Nevus Sebaceus Syndrome |
|
Telecanthus, Adenoma sebaceum, Microphthalmia |
ORPHA:2612 |
| Bent Bone Dysplasia Syndrome 2 |
|
Micropenis, Intrauterine growth retardation, Atrial septal defect, Shawl scrotum |
OMIM:620076 |
| Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Tachypnea |
ORPHA:466650 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Umbilical hernia, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Iris col... |
OMIM:102500 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Vesicovaginal fistula, Atrial septal defect, Rod-cone dystrophy |
OMIM:300896 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Flexion co... |
ORPHA:365 |
| Orofaciodigital Syndrome Type 14 |
|
Bilateral cryptorchidism, Retinal coloboma, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:434179 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... |
OMIM:618748 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... |
OMIM:182250 |
| Mosaic Trisomy 20 |
|
Intrauterine growth retardation, Cryptorchidism, Abnormal mitral valve morphology, Dysplastic tri... |
ORPHA:1724 |
| Pineoblastoma |
|
Pinealoma, Lethargy |
ORPHA:251909 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Patent ductus arteriosus after premature birth, Ventricular septal defect |
OMIM:620454 |
| Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Spina bifida oc... |
OMIM:105650 |
| Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Cryptorchidism, Patent foramen ovale, Mitral valve p... |
OMIM:620305 |
| Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Decreased fertility, Cryptorchidism, Ventricular septal defect, Hypopl... |
ORPHA:3138 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Delayed menarche, Abnormal pulmonary valve morphology, Cryptorchidis... |
ORPHA:648 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Decreased testicular size, Patent foramen ovale, Dysplastic t... |
OMIM:157800 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary window, Ventricular septal defect, Cryptorchidism, Optic nerve hypoplasia |
OMIM:620025 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micropenis, Patent ductus arteriosus, Atrial septal defect, Death in infancy |
OMIM:300868 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:3047 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Vestibular schwannoma, Mitral valve prolapse, Ventricular septal def... |
OMIM:218040 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect |
OMIM:615503 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... |
OMIM:192350 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Atrioventricular canal d... |
OMIM:619534 |
| Turnpenny-Fry Syndrome |
|
Intrauterine growth retardation, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal d... |
OMIM:618371 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Bran... |
OMIM:164210 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Mucolipidosis Type Ii |
|
Cardiomyopathy, Umbilical hernia, Abnormal aortic valve morphology, Abnormal mitral valve morphol... |
ORPHA:576 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Cryptorchidism, Cor triatriatum, Patent ductus arteriosus, Pulmoni... |
OMIM:612541 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Depressed nasal bridge |
ORPHA:79280 |
| Lymphatic Malformation 6 |
|
Hydrocele testis, Atrial septal defect |
OMIM:616843 |
| Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Hydrocephalus, Aqueductal ... |
OMIM:154400 |
| Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Intrauterine gr... |
OMIM:619573 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus, Ventricular septal defect |
ORPHA:411709 |
| Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Keratoconus, Abnormality of the dentition, Carious teeth, Periodontitis, Tel... |
ORPHA:286 |
| Loeys-Dietz Syndrome 2 |
|
Umbilical hernia, Patent foramen ovale, Mitral valve prolapse, Bicuspid aortic valve, Atrial sept... |
OMIM:610168 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tort... |
OMIM:175780 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hypospadias, Intrauterine growth retardation, Cryptorchidism, Patent foramen ovale, Chordee, Micr... |
OMIM:619841 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Atrial septal defect, Micropenis, Hypoplas... |
OMIM:617403 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Coloboma, Abnormal external genitalia, Ventricular septal defect |
ORPHA:1199 |
| Carpenter Syndrome 2 |
|
Umbilical hernia, Bilateral cryptorchidism, Situs inversus totalis, Cryptorchidism, Transposition... |
OMIM:614976 |
| Restrictive Dermopathy |
|
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Transposit... |
ORPHA:1662 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
| Eisenmenger Syndrome |
|
Respiratory distress, Lethargy |
ORPHA:97214 |
| Frontometaphyseal Dysplasia 2 |
|
Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic s... |
OMIM:617137 |
| Cranioectodermal Dysplasia 2 |
|
Left ventricular hypertrophy, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:613610 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Difficulty walking, Dysphagia, Aspiration pneumonia |
OMIM:619482 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect |
OMIM:271640 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Secundum atrial septal defect, Phimosis, Chordee, Patent ductus arteriosus, Optic nerve hypoplasia |
OMIM:620455 |
| Loeys-Dietz Syndrome 1 |
|
Mitral valve prolapse, Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Patent ductus ... |
OMIM:609192 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level... |
OMIM:313900 |
| Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Cryptorchidism, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida, ... |
OMIM:304120 |
| Catel-Manzke Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Ove... |
OMIM:616145 |
| Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:117650 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... |
ORPHA:75565 |
| Feingold Syndrome 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Tricuspid atresia, Ventricular septal defect |
OMIM:164280 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Hypospadias, Cryptorchidism, Ventricular septal defect |
OMIM:618846 |
| Floating-Harbor Syndrome |
|
Varicocele, Umbilical hernia, Glandular hypospadias, Mesocardia, Cryptorchidism, Atrial septal de... |
OMIM:136140 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Umbilical hernia, Cystocele, Mitral valve prolapse, Uterine prolapse, Bi... |
OMIM:613795 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Chordee, Hypospadias, Cryptorchidism, Patent foramen ovale |
ORPHA:477993 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Umbilical hernia, Death in childhood, Death in infancy, Neonatal death, Cryptorchidism, Aganglion... |
OMIM:308205 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Ascites, Adrenal calcification, Cyanosis, Cardiomegaly, Pancreatic calci... |
ORPHA:51608 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Dilated cardiomyopathy, Intrauterine growth retardation, Septate vagina, Si... |
OMIM:243800 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect |
OMIM:616682 |
| Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Ventricular septal de... |
OMIM:606170 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:436252 |
| Sotos Syndrome |
|
Umbilical hernia, Abnormal heart morphology, Decreased fertility, Cryptorchidism, Phimosis, Ventr... |
ORPHA:821 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Atrial septal defect |
OMIM:250220 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141127 |
| Keutel Syndrome |
|
Miscarriage, Pulmonic stenosis, Ventricular septal defect |
OMIM:245150 |
| Digeorge Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ovarian cyst, Truncus arteriosus, Ventricular septal defec... |
OMIM:188400 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus |
OMIM:613355 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Patent ductus arteriosus, Atrial septal defect, Cardiomyopathy |
ORPHA:480880 |
| Lafora Disease |
|
Inability to walk, Recurrent aspiration pneumonia, Gait disturbance, Ataxia |
ORPHA:501 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
