Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... |
OMIM:619565 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, Plasmacytosis, Cough |
ORPHA:60026 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss |
ORPHA:52416 |
Squamous Cell Carcinoma Of The Esophagus |
|
Cough, Lymphadenopathy |
ORPHA:99977 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia, ... |
ORPHA:858 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Respiratory insufficiency, Hepatomegaly |
ORPHA:2432 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Cough, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait dis... |
ORPHA:216866 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Adenocarcinoma Of The Esophagus |
|
Cough, Obesity, Lymphadenopathy |
ORPHA:99976 |
Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect, Cryptorchidism |
ORPHA:3434 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... |
ORPHA:100083 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Uraciluria, Microphthalmia, Lethargy, Failure to thrive |
OMIM:274270 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Micro... |
OMIM:613730 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive seco... |
OMIM:608971 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, L... |
ORPHA:50251 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Depression, Weight loss, Irritability, Gait ataxia, Brad... |
ORPHA:248111 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Ataxia, Decreas... |
ORPHA:79239 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Depression, Weight loss, Bradykinesia, Gait disturbance, Ab... |
ORPHA:157941 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D... |
OMIM:128100 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia, Small for gestational age, Ataxia |
OMIM:278780 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Sensorineural hearing im... |
ORPHA:290 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight ... |
ORPHA:391 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... |
OMIM:618652 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Tremor, Respiratory insufficiency, Depression... |
OMIM:168605 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials |
ORPHA:99852 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1574 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:209950 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Dyspnea, Choreoathetosis, Dysphagia, Microphthalmia, Micropenis |
OMIM:308350 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal... |
ORPHA:85447 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Thrombocytopenia, Tachypnea, Methylmalonic aciduria, Normochromic anemia, Neutrop... |
OMIM:614857 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad... |
OMIM:257200 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Pulmonary arterial hyperten... |
OMIM:300887 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Throm... |
OMIM:615085 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Wide nasal bridge, Abnormal emotion, Attention defi... |
ORPHA:1942 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome |
OMIM:269920 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dysphagia, Dystonia |
OMIM:304700 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Rhabdoid Tumor |
|
Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hematuria, Irritability, Weight los... |
ORPHA:69077 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Ataxia, Urinary incontinence, Unsteady gait, Limb ataxia, Depression, Gait ataxia, Brad... |
ORPHA:98760 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Low-set ears |
OMIM:616570 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Macrotia, Cardiomegaly |
OMIM:300886 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Acute k... |
OMIM:618886 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Dyspnea, Upper airway obstruction, Weight loss, Lymphadenopathy, Str... |
ORPHA:142 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia, Hepatic steatosis, Pancr... |
OMIM:618805 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Pierpont Syndrome |
|
Cryptorchidism, Decreased body weight, Microphthalmia, Micropenis, Failure to thrive, Short nose |
OMIM:602342 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... |
OMIM:619126 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Low-set ears, Polycystic kidney dysplasia, Microphthalmia, En... |
OMIM:613885 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, R... |
OMIM:618494 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertr... |
OMIM:619053 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Abdominal o... |
OMIM:300354 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... |
ORPHA:319487 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Ventricular septal defect, Large earlobe |
OMIM:602501 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... |
ORPHA:97290 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... |
OMIM:602450 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Dysphagia, Titubation, Gait ataxia, Bradykinesia, Gait dist... |
ORPHA:225147 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron defic... |
ORPHA:99931 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Hearing impairment |
OMIM:120433 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Wide nasal bridge, Microphthalmia, Failure to thrive |
OMIM:600118 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Microphthalmia, Failure to thrive, Small for gestational age |
ORPHA:1617 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... |
ORPHA:335 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Dysmetria, Microphthalmia, Intention tremor |
ORPHA:48431 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Au... |
OMIM:613179 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo... |
OMIM:609981 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Macrotia, Cardiomegaly |
OMIM:613576 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Cofs Syndrome |
|
Microphthalmia, Hypogonadism, Wide nasal bridge |
ORPHA:1466 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Absent brainstem auditory responses, Apnea, ... |
ORPHA:79330 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... |
ORPHA:1215 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... |
ORPHA:507 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Pl... |
OMIM:235200 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Respiratory... |
OMIM:600649 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Optic atrophy, Optic disc pallor |
OMIM:616171 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Pierpont Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Microphthalmia, Macrotia, Hearing imp... |
ORPHA:487825 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Tongue thrusting, Limb tremo... |
OMIM:608643 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... |
OMIM:608800 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Sen... |
ORPHA:3378 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic s... |
OMIM:212140 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... |
OMIM:603467 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Asthma, Lymphadenopathy, Failure to thrive |
OMIM:607271 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Fatiga... |
ORPHA:42 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Facial palsy, Cardiomyopathy |
OMIM:613155 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Biliary tract abnormality, Respiratory insufficiency, Membrano... |
ORPHA:3191 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Dysphagia, Goiter |
ORPHA:97285 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hearing impairment, Anemia, Cardiomegaly |
OMIM:618838 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Aggressive behavior, Horseshoe kidney, Depression, Gait disturbance, Attention defic... |
ORPHA:65286 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Microphthalmia |
ORPHA:141333 |
Moebius Syndrome |
|
Respiratory distress, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Gait disturbance, Dyspha... |
OMIM:157900 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu... |
ORPHA:100924 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Refsum Disease |
|
Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Respiratory insufficiency, C... |
ORPHA:773 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis, Hearing impairment |
ORPHA:195 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Rhinorrhea, Wheezing, Recurrent pneumonia, Bronc... |
OMIM:613807 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Sim... |
OMIM:619318 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... |
ORPHA:3092 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... |
ORPHA:397596 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Protruding ear, ... |
ORPHA:85284 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... |
OMIM:601186 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... |
ORPHA:85450 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Oligosacchariduria, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymphocytop... |
ORPHA:277 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenop... |
ORPHA:3392 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, EEG abnormality, Respiratory failure, Perimembranous ventricu... |
OMIM:618804 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Optic disc pallor, Optic disc drusen |
OMIM:611040 |
Scrub Typhus |
|
Renal insufficiency, Tremor, Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ventilatory defe... |
ORPHA:83317 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Pleural effusion |
OMIM:614702 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Restlessness, Hyperactivity, Ataxia, Aggressive behavior, Cryptorchidism, Bilateral microphthalmo... |
ORPHA:369891 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis... |
ORPHA:520 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Wide nasal bridge, Microphthalm... |
OMIM:619185 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment |
OMIM:619981 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Decreased proportion of naive ... |
ORPHA:276 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... |
OMIM:619164 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... |
OMIM:300280 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Hearing impairment |
OMIM:610023 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Ataxia, Anorexia, Splenomegaly, Jaundice, Hepatitis, Respirator... |
ORPHA:549 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Cryptorchidism, Optic ... |
ORPHA:494344 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Tay-Sachs Disease |
|
Exaggerated startle response, Precocious puberty, Tremor, Inability to walk, Dysphagia, Depressio... |
ORPHA:845 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Neonatal asphyxia, Jaundice, Neutropenia in pr... |
ORPHA:525731 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, ... |
OMIM:617302 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Tachypnea, Hep... |
OMIM:201475 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Portal hypertension... |
ORPHA:824 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia, Sensorineural hearing impairment, Optic atrophy |
ORPHA:1473 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect, Low-set ears |
ORPHA:93267 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Neonatal asphyxia, Cryptorchidism, Microtia, Multiple bladder diverticula, Atrial se... |
ORPHA:2728 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemoly... |
OMIM:619644 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr... |
OMIM:618982 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Respiratory insufficiency |
OMIM:613153 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... |
OMIM:613101 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Microp... |
ORPHA:77298 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Weight loss... |
ORPHA:3226 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ... |
OMIM:618495 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... |
ORPHA:83469 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... |
OMIM:600901 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... |
OMIM:115197 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:42642 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive... |
ORPHA:209905 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Long nose, Cryptorchidism, Gait ataxia, Microphallus, Low frustrati... |
OMIM:300486 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia |
OMIM:611134 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Aggressive behavior, Wide nasal bridge, Gait disturbance, Attention deficit... |
OMIM:620098 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Ataxia, Aggressive behavior, Precocio... |
ORPHA:163681 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Ataxia, Splenomegaly, Dyspnea, Lymphadenopathy, H... |
ORPHA:36412 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:100025 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noni... |
ORPHA:97289 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set ears |
OMIM:136760 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... |
ORPHA:2004 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... |
OMIM:612840 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia |
OMIM:600776 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... |
ORPHA:91359 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8... |
ORPHA:911 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cupped ear, Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Abnormal antihelix morphology, Low-set... |
ORPHA:85194 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Head titubation, Dysmetria, Dysphagia, Aspiration, Failure to thrive |
OMIM:614688 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... |
OMIM:227650 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Sensorineural hearing impairment, Overfolded helix, Microp... |
OMIM:243310 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Ataxia |
OMIM:615771 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Irritability, Failure to... |
OMIM:617864 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Recurrent pneumonia, Microphthalmia, Failure to thrive |
OMIM:214150 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Irritability, Polyphagia, Goiter |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 38 |
|
Irritability, Ataxia, Aspiration, Dystonia |
OMIM:617020 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Leukopenia... |
ORPHA:974 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Cardiom... |
OMIM:617713 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Irritability, Le... |
OMIM:267700 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Failure to thrive, Ataxia |
OMIM:616881 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Patent foramen ovale, Ac... |
OMIM:620005 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to thrive, Anemia |
OMIM:617883 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... |
OMIM:214500 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss... |
ORPHA:514 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, He... |
OMIM:603553 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Posteriorly rotated ears, Hypospadias, Cardiomegaly, Micropenis, Large... |
OMIM:616897 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As... |
ORPHA:99776 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive beha... |
ORPHA:2131 |
Aregenerative Anemia |
|
Pancytopenia, Abnormal proportion of CD8-positive T cells, Dyspnea, Erythroid hypoplasia, Reticul... |
ORPHA:101096 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hyp... |
ORPHA:79126 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Tremor, Abnormal eating behavior,... |
ORPHA:247585 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Microphthalmia, Isosexual precocious puberty, Waddling gait |
ORPHA:2788 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... |
OMIM:620282 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Overfolded helix, Mitral valve prolapse... |
ORPHA:324410 |
Cat Eye Syndrome |
|
Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic ... |
OMIM:115470 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Failure to thrive |
OMIM:602361 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Microtia, Hydroureter |
ORPHA:2547 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Central hypoventilation, Low-set ears, Atrial septal defect, Microphtha... |
OMIM:611961 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenome... |
ORPHA:353298 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Refsum Disease, Classic |
|
Cardiomyopathy, Sensorineural hearing impairment, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... |
OMIM:601005 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Ventricular septal defect, Atresia of the external... |
ORPHA:2328 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Ureteral duplication, Apnea, Posteriorly rotated ear... |
OMIM:608836 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Respiratory insufficiency due to muscle weaknes... |
OMIM:232300 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymph... |
OMIM:614034 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Complete atrioventricular cana... |
OMIM:264480 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden... |
OMIM:150550 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Respiratory insufficiency |
ORPHA:2117 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Inability to walk, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased... |
OMIM:614222 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Optic disc pallor |
OMIM:251270 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Wide nasal bridge, Attention deficit hyperactivity disorder, Compulsive behaviors... |
ORPHA:404440 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Absence of lymph node g... |
OMIM:608184 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... |
ORPHA:529808 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Dyspnea, Asthma, Wheezing, Bronchiectasis, L... |
OMIM:620233 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Elevated circulating growth hormon... |
ORPHA:97287 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, EEG with burst suppression, Hypsarrhythmia, Ch... |
OMIM:619036 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Inability to walk, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicula... |
OMIM:615663 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Tongue thrusting, Athetosis, Irritability, Bruxism, Aspiration, Abnormal repetitive man... |
OMIM:613454 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis |
OMIM:255120 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Renal insufficiency, Proteinuria... |
ORPHA:90321 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Low-set ears, Microphthalmia, Microp... |
OMIM:248700 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticu... |
OMIM:227645 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine... |
ORPHA:391428 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syn... |
ORPHA:39041 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... |
ORPHA:439 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... |
OMIM:615122 |
Vici Syndrome |
|
Lymphopenia, Neutropenia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Macular hypo... |
OMIM:242840 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... |
OMIM:613001 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Macrotia |
OMIM:619694 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Microphthalmia, Failure to thrive, Dysphagia |
OMIM:612379 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Respira... |
ORPHA:3240 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Hypospadias, Small for gestational age, Aggressive behavior, Crypto... |
OMIM:619148 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Lissencephaly 8 |
|
Microphthalmia, Optic atrophy |
OMIM:617255 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Abnormal pinna morphology, Hearing impairment |
OMIM:614583 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Wide nasal bridge,... |
ORPHA:99812 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Ataxia, Fluctuating splenomegaly, Fl... |
OMIM:610377 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... |
OMIM:617914 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Low-set ears |
OMIM:617022 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-m... |
ORPHA:2388 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Wide nasal bridge, Depression, Attention deficit hyperactivity disorder, Vesicour... |
ORPHA:250989 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Wheezing, Epididymitis, Abnormality of ... |
ORPHA:2035 |
Beck-Fahrner Syndrome |
|
EEG abnormality, Protruding ear, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Temtamy Syndrome |
|
Microphthalmia, Low-set ears |
ORPHA:1777 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... |
ORPHA:465508 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... |
OMIM:612444 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Felty Syndrome |
|
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Lymphadenopathy, We... |
ORPHA:47612 |
Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy |
OMIM:616651 |
Deafness, X-Linked 7 |
|
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... |
OMIM:301018 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Pneumonia, Chronic neutro... |
OMIM:614700 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Epistaxis, Anorexia, Abnormality of... |
ORPHA:33226 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopat... |
ORPHA:50918 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Tremor, Reduced forced vital capacity, Respiratory ins... |
OMIM:164310 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Poems Syndrome |
|
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Weight loss, R... |
ORPHA:2905 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Aniridia |
ORPHA:654 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... |
OMIM:227646 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Tachypnea, Microtia, Low-set ears, Pulmonary arterial hypertension |
OMIM:613320 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Recurrent sinusit... |
ORPHA:98813 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Conductive hearing impairment, Cryptorchidism, Low-set ears, Atrial se... |
OMIM:244300 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... |
OMIM:300991 |
Seckel Syndrome 2 |
|
Small for gestational age, Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Uplifted earlobe, Recurrent pneumonia, Pulmonary arterial... |
OMIM:616449 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Asthma, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... |
ORPHA:228308 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:152950 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Intrahepatic cholestasis, Dilated... |
OMIM:614921 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Recurre... |
OMIM:618935 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, ... |
ORPHA:83313 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia |
ORPHA:1438 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Small scrotum, Small for gestational age |
OMIM:610756 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Bilateral microphthalmos, Abnormal heart morphology, EEG abnormality, L... |
OMIM:610758 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Dysphagia, ... |
OMIM:618922 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Cryptorchidism, Abnormal heart morphology, Low-set ears, Mic... |
ORPHA:401973 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Fraser Syndrome 2 |
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Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... |
OMIM:617666 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... |
OMIM:610125 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au... |
OMIM:105210 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bro... |
OMIM:300755 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hearing impair... |
ORPHA:349 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... |
OMIM:614874 |
Primary Ciliary Dyskinesia |
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Male infertility, Neonatal respiratory distress, Female infertility, Productive cough, Asplenia, ... |
ORPHA:244 |
Familial Pancreatic Carcinoma |
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Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Weig... |
ORPHA:1333 |
Riddle Syndrome |
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Generalized lymphadenopathy, Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis ... |
ORPHA:420741 |
Meckel Syndrome |
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Accessory spleen, Low-set, posteriorly rotated ears, Ureteral duplication, Anophthalmia, Pancreat... |
ORPHA:564 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Oculofaciocardiodental Syndrome |
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Sensorineural hearing impairment, Mitral valve prolapse, Abnormal cardiac septum morphology, Micr... |
ORPHA:2712 |
Cockayne Syndrome B |
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Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... |
OMIM:133540 |
Arthrogryposis, Distal, Type 2A |
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Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Late-Infantile/Juvenile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Q Fever |
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Respiratory distress, Hepatomegaly, Pneumonia, Anorexia, Splenomegaly, Thrombocytopenia, Hepatiti... |
ORPHA:781 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Microphthalmia, Optic nerve hypoplasia, EEG abnormality |
OMIM:614833 |
Graft Versus Host Disease |
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Pneumonia, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Irritability, Chronic hepatitis, Hemoph... |
ORPHA:39812 |
Trichothiodystrophy 3, Photosensitive |
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Bilateral cryptorchidism, Low-set ears, Neutropenia, Microphthalmia, Lymphopenia, Hearing impairment |
OMIM:616395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, Aggressive behavior, Inability to walk, Recurrent pneumonia, Pulmonary arterial hype... |
ORPHA:464738 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Cutaneous Mastocytoma |
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Dyspnea, Lymphadenopathy |
ORPHA:79455 |
Mucopolysaccharidosis Type 3 |
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Cardiomegaly, Adenoiditis, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... |
ORPHA:581 |
Joubert Syndrome 14 |
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Posteriorly rotated ears, Ventricular septal defect, Optic atrophy, Renal cyst, Low-set ears, Mic... |
OMIM:614424 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonary artery pressure... |
ORPHA:57777 |
Diffuse Cutaneous Mastocytosis |
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Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Mye... |
ORPHA:79456 |
Joubert Syndrome 2 |
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Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Renal cyst, Nephronophthisis, Hyp... |
OMIM:608091 |
Micro Syndrome |
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Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridge, Clitoral hypopl... |
ORPHA:2510 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Incr... |
OMIM:261740 |
Familial Aortic Dissection |
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Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly |
ORPHA:229 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Respiratory insufficiency due to muscle weakness, Unsteady gait, Difficulty walking, Dysphagia, A... |
ORPHA:600 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Phace Association |
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Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia... |
OMIM:606519 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory insufficiency, Transposit... |
OMIM:253800 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Sen... |
OMIM:120330 |
Stiff-Person Syndrome |
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Depression, Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress, Exaggerated startle response, Broad-based gait, Ataxia, Wide nasal bridge, ... |
ORPHA:438216 |
Opitz Gbbb Syndrome |
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Hypospadias, Rectourethral fistula, Cryptorchidism, Wide nasal bridge, Congenital posterior ureth... |
OMIM:300000 |
Pallister-Hall Syndrome |
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Thyroid dysgenesis, Hydroureter, Ventricular septal defect, Decreased response to growth hormone ... |
OMIM:146510 |
Heart And Brain Malformation Syndrome |
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Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Microphthalmia |
OMIM:616920 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Renal insufficiency, Eosinophilia, Dyspnea, Hepatitis, Lymphadenopathy, Weight loss, Tubulointers... |
ORPHA:139402 |
Microphthalmia-Brain Atrophy Syndrome |
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Tongue thrusting, Bilateral microphthalmos |
ORPHA:77299 |
Kaposi Sarcoma |
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Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Unilateral cryptorchidism, Microphthalmia, Short nose, Failure to thrive |
OMIM:206920 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Optic atrophy, Renal cyst, Poly... |
ORPHA:137675 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Fanconi Anemia, Complementation Group L |
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Unilateral renal agenesis, Renal hypoplasia, Wide nasal bridge, Bone marrow hypocellularity, Apla... |
OMIM:614083 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, ... |
OMIM:610217 |
Brucellosis |
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Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epidid... |
ORPHA:1304 |
Proteus-Like Syndrome |
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Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... |
OMIM:619259 |
3P25.3 Microdeletion Syndrome |
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Ventricular septal defect, Sensorineural hearing impairment, Pulmonic stenosis, Atrial septal def... |
ORPHA:435638 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemia, Elevated ... |
ORPHA:199241 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Tremor, Cryptorchidism, Respiratory failure, Hydronephrosis |
OMIM:620327 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microtia, Low-set ears, Micropht... |
OMIM:612530 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineu... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... |
OMIM:617091 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Hepatomegaly, Ataxia, Peritonitis, Lymphadenopathy, Acrocyanosis |
ORPHA:343 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
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Inability to walk, Wide nasal bridge, Gait disturbance, Difficulty walking, Microphthalmia, Short... |
OMIM:618571 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Wide nasal bridge, Respiratory insufficiency,... |
ORPHA:861 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Monosomy 18P |
|
Microphthalmia, Generalized dystonia, Wide nasal bridge |
ORPHA:1598 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
OMIM:241410 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:614526 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Microtia, Cupped ear |
ORPHA:1352 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Atrioventricular canal defect, Cryptorchidism |
OMIM:619135 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... |
ORPHA:90793 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:613456 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Low-set ears, Protruding ear |
OMIM:614219 |
Behçet Disease |
|
Renal insufficiency, Ataxia, Anorexia, Pulmonary embolism, Orchitis, Splenomegaly, Weight loss, L... |
ORPHA:117 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadi... |
ORPHA:2059 |
Steinfeld Syndrome |
|
Absent gallbladder, Abnormal pinna morphology, Abnormal heart morphology, Microphthalmia, Hearing... |
OMIM:184705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Microphthalmia, Sensorineural hearing impairmen... |
OMIM:615249 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... |
OMIM:206900 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... |
OMIM:619418 |
Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymp... |
ORPHA:2686 |
Martsolf Syndrome 1 |
|
Posteriorly rotated ears, Cryptorchidism, Cardiomyopathy, Low-set ears, Tracheomalacia, Microphth... |
OMIM:212720 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Cough |
ORPHA:3386 |
Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Low-set ears, Polycystic kidney dysplas... |
OMIM:619879 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypoparathyroidism, H... |
ORPHA:567 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Cryptorchidism, Recurrent pneumonia, Choreoathetosis, T... |
OMIM:234100 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv... |
ORPHA:101085 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Tremor, Phonic tics, Depre... |
OMIM:234200 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Conductive hearing impairment, Severe sensorineural hearing impairment, Atrial septal defect, Pat... |
OMIM:620186 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepato... |
OMIM:619488 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Epistaxis, Tremor, Splenomegaly, Inability t... |
ORPHA:167 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Macrotia, Optic atrophy, Ventricular septal defect |
OMIM:234050 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Wide nasal bridge, Stillbir... |
OMIM:243605 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... |
OMIM:230000 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Low-set, posteriorly rotated ears |
ORPHA:1915 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... |
OMIM:620197 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Low-set ears, Microphthalmia |
ORPHA:2189 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,... |
ORPHA:169090 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Failure to thrive |
OMIM:618201 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Low-set ears, Aniridia, Microphthalmia, Hearing impairment |
ORPHA:251038 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Anotia, Microtia, Atresia of the external auditory can... |
ORPHA:268249 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior, Long nose,... |
ORPHA:85327 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... |
OMIM:181000 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Intercostal muscle weakness, Inability to walk, Respiratory insufficiency, Pulmo... |
ORPHA:258 |
H Syndrome |
|
Histiocytosis, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Azoospermi... |
ORPHA:168569 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Dyspnea, Lymphadenopathy, Hematuria, Nephrotic synd... |
ORPHA:93552 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Apnea, Respiratory insufficiency, Dystonia, Impaired oropharyngeal ... |
ORPHA:521426 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Sensorineural hearing impairment, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis, Short nose |
OMIM:614225 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral... |
ORPHA:90324 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm |
ORPHA:100080 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Cryptorchidism, Self-injurious behavior, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... |
OMIM:216400 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Agitation, Aspiration, Dysphagia |
ORPHA:2148 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Thyroid C cell hyperplasia |
OMIM:300952 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pleural effusion, Lymphadenopathy |
ORPHA:85414 |
Temtamy Syndrome |
|
Microphthalmia, Self-mutilation |
OMIM:218340 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Large for gestationa... |
OMIM:229850 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Respiratory insufficiency, Irritabi... |
OMIM:615574 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... |
OMIM:616100 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased proportion... |
OMIM:606367 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... |
ORPHA:2162 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Dyspnea, Supravalvar pulmonary stenosis, Protruding ear, Pulmonic stenosis, Low... |
OMIM:620185 |
Adnp Syndrome |
|
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Aggressive behavior, Crypt... |
ORPHA:404448 |
Rodrigues Blindness |
|
Microphthalmia, Nasal flaring, Protruding ear |
OMIM:268320 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Small for gestational age, Abnormal external genitalia, Failure t... |
ORPHA:1199 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Optic atrophy, Protr... |
ORPHA:899 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Respiratory insufficiency, Dysphagia, Short nose, Failure to... |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Cryptorchidism, EEG with burst suppression,... |
OMIM:618143 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Abnormal pinna morphology, Ventricular septal defect, Renal cyst, Renal cortica... |
ORPHA:1692 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Cupped ear, Low-set ears |
OMIM:167730 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Cardiomegaly, Cardiomyopathy, Respiratory failure, Abnormal helix morp... |
ORPHA:158687 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Hearing impairment, Cardiomegaly, Respiratory insu... |
ORPHA:365 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the menstrual c... |
ORPHA:3385 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Overfolded helix, Low-set ears |
OMIM:619339 |
Cohen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasia o... |
ORPHA:193 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Lymphadenopat... |
ORPHA:809 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Abnormalit... |
ORPHA:2538 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation, Thyroid hyperplasi... |
ORPHA:424 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopa... |
OMIM:615688 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Short nose, Oligosacchariduria |
ORPHA:163649 |
Ogden Syndrome |
|
Apnea, Microvesicular hepatic steatosis, Iron deficiency anemia, Macrovesicular hepatic steatosis... |
OMIM:300855 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Splenomegaly, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Low frustration tolerance, Aspirati... |
OMIM:619503 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... |
ORPHA:3384 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Fac... |
ORPHA:508498 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, R... |
ORPHA:829 |
Nance-Horan Syndrome |
|
Microphthalmia, Protruding ear |
ORPHA:627 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Macular hypoplasia, Low-se... |
OMIM:147791 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Ventricular septal defect, Ureteral stenosis, Horseshoe kidney, Low-set ears, Micr... |
OMIM:272950 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... |
ORPHA:540 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... |
OMIM:130650 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea |
OMIM:149400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... |
ORPHA:534 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... |
ORPHA:980 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg... |
ORPHA:1572 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Respirat... |
ORPHA:333 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Wide nasal bridge, Decreased body weight, Microphthalmia, Micropen... |
OMIM:300895 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal cyst, Pheochromocytoma, Hyperactivity, Repetitive compulsive behavior... |
ORPHA:805 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia |
ORPHA:71272 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm |
ORPHA:100082 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Prominent antitragus, Mitral valve p... |
OMIM:245600 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Atypical or p... |
ORPHA:83471 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Follicular hyperplasia, Tachypnea, Paratracheal lymphadenopathy, Leukopenia, Thrombo... |
OMIM:615934 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microtia, Mic... |
ORPHA:3301 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Microphthalmia, Lens coloboma, Progressive senso... |
ORPHA:2791 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Halperin-Birk Syndrome |
|
Inability to walk, Aspiration, Pseudobulbar paralysis, Failure to thrive |
OMIM:618651 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Bronchiectasis, Immotile cilia |
OMIM:618801 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Asthma, Hypogonadism, Microphthalmia, Short nose |
OMIM:601675 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Anorexia, Neoplasm ... |
ORPHA:99889 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Dyspnea, Abnormality of the lymphatic system, Emphysema, Pneumothorax, Ly... |
ORPHA:538 |
Dubowitz Syndrome |
|
Hyperactivity, Aplastic anemia, Hypospadias, Cryptorchidism, Wide nasal bridge, Acute lymphoblast... |
OMIM:223370 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Failure to thrive in infancy, Pneumonia, Cache... |
ORPHA:37042 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal car... |
ORPHA:2166 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Exaggerated startle response, Broad-based gait, Apnea, Breathing dysregulation, ... |
ORPHA:438213 |
Tay-Sachs Disease |
|
Aspiration, Exaggerated startle response |
OMIM:272800 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Respiratory failure, Dysphagia |
OMIM:617301 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Ataxia,... |
OMIM:251300 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc colobo... |
ORPHA:959 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Cough, Emphys... |
ORPHA:797 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... |
ORPHA:3260 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... |
ORPHA:449395 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Failure to... |
OMIM:617591 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Horseshoe kidney, Hypoplasia of the iris... |
ORPHA:2092 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Exaggerated startle response, Dystonia |
OMIM:272750 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Incontinentia Pigmenti |
|
Eosinophilia, Supernumerary nipple, Gait disturbance, Attention deficit hyperactivity disorder, M... |
ORPHA:464 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Hypospadias, Cryp... |
OMIM:616975 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Low-set ears |
OMIM:300863 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Weight loss, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Aspiration... |
ORPHA:79255 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Coccidioidomycosis |
|
Respiratory distress, Renal insufficiency, Abnormal sperm morphology, Pneumonia, Eosinophilia, Ab... |
ORPHA:228123 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropht... |
OMIM:309801 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Cryptorchidism, Aplasia/... |
ORPHA:84 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Cough, Atrial septal... |
OMIM:619991 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Diamino... |
OMIM:207800 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary ... |
OMIM:244400 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Apnea |
OMIM:614618 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Hydron... |
ORPHA:35173 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Charge Syndrome |
|
Anophthalmia, Hypoplasia of the semicircular canal, Vesicoureteral reflux, Micropenis, Low-set, p... |
ORPHA:138 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse |
OMIM:618874 |
Monosomy 9Q22.3 |
|
Hyperactivity, Ovarian fibroma, Large for gestational age, Microphthalmia, Short nose |
ORPHA:77301 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal penis morphology, Anophthalmia, Hypospadias, Dyspnea, Cleft earlob... |
ORPHA:2556 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegal... |
OMIM:615846 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Renal hypoplasia, Respiratory insufficiency, Renal cyst, Stillbirth, Ambiguous ge... |
OMIM:616300 |
Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Leukocytosis, Epididymitis, Lymp... |
ORPHA:99827 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Unsteady gait, Multiple renal cysts, Reduced renal corticomedullary differe... |
OMIM:618733 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears |
OMIM:607597 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... |
OMIM:214800 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Apnea, Acute lymphoblastic leuke... |
ORPHA:1052 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Abnormality of the hepatic va... |
ORPHA:1677 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... |
OMIM:219700 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Mic... |
ORPHA:2399 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Posterior helix pit, Hepa... |
ORPHA:116 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Optic disc coloboma, Vesicoureteral reflux |
OMIM:120200 |
Developmental And Epileptic Encephalopathy 100 |
|
Gait ataxia, Choreoathetosis, Dysphagia, Aspiration, Abnormal repetitive mannerisms |
OMIM:619777 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Macrotia, Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment |
OMIM:617306 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... |
ORPHA:556 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism, Micropenis, Wide nasal bridge |
OMIM:614230 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Abnormal optic disc morphology, Hearing impairment |
ORPHA:891 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary arterial hypert... |
OMIM:100300 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Anteverted ears, Cryptorchidism, Low-set ears, M... |
OMIM:613884 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Low-set ears, Microphthalmia, Hearing impairment |
ORPHA:284160 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Apnea, Cardiomegaly, Optic atrophy, Abnormal cardiac septum mo... |
ORPHA:97297 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... |
ORPHA:353277 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Hypoplastic nipples, Low-set ears, Microphthalmia, Overfolded helix |
OMIM:156610 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis... |
ORPHA:289390 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Low-set ears |
ORPHA:163966 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph... |
ORPHA:468631 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cholestasis, Lymphadenopa... |
ORPHA:293173 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Long nose, C... |
OMIM:619522 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Complete atrioventricular canal defect, Microtia, ... |
OMIM:617925 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... |
ORPHA:353281 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Microphthalmia, Sensorineural hearing impairment, Optic atrophy |
OMIM:610651 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Low-set ears, Atrial septal defec... |
ORPHA:251014 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Microphthalmia, Hypopituitarism, Congenital conductive hearing... |
ORPHA:391474 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... |
ORPHA:125 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... |
OMIM:615842 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Pointed helix, Atri... |
ORPHA:3380 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... |
OMIM:617099 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia |
OMIM:606070 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Macrotia, Low-set ears |
OMIM:615145 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Short nose |
ORPHA:1791 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... |
ORPHA:96191 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Wide nasal bridge |
OMIM:613451 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Lym... |
ORPHA:331235 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Iron deficiency anemi... |
ORPHA:100075 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Atresia of the external auditory canal, Microphthalmia, Tet... |
ORPHA:3186 |
Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Wide nasal bridge, Horseshoe kidney, Ly... |
ORPHA:2136 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Hearing impairment, Protruding ear |
ORPHA:1806 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, Restrictive ventilatory defect, T lympho... |
OMIM:607944 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Macrotia, Cupped ear, R... |
OMIM:309500 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacchariduria, Hypertrophi... |
OMIM:252500 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defe... |
OMIM:614935 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Chylothorax |
OMIM:153400 |
Carney Triad |
|
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Anemia |
ORPHA:139411 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Respiratory failure, Hepatic fibrosi... |
ORPHA:14 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Apnea, Dysmetria, Pseudobulbar paralysis, Dysphagia, Aspiration |
ORPHA:98889 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Optic atrophy, Breast ... |
OMIM:308300 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Ventricular septal defect, Dextrocardia, Asymmetry of the ears, Posteriorly rotated... |
OMIM:300166 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Micropenis, Pa... |
ORPHA:672 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Ga... |
ORPHA:33364 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
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 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Lymphopenia, Anorexia, Aggressive behavior, Orchitis, Nonpr... |
ORPHA:99826 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Abnormal pinna morphology, Hydronephrosis, Hearing impairment |
OMIM:302960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Respiratory failure |
OMIM:616538 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Cryptorchidism, Hypogonadism, Microphthalmia, Annular pancreas, Short ... |
OMIM:268400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Abnormal pinna morphology, Hypospadias, Complete atr... |
OMIM:236680 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, Nephropathy, Pleural effusion, Ac... |
ORPHA:29073 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long nose, Microphthalmia, Failure to thrive |
OMIM:257850 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Low... |
OMIM:617729 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Optic atrophy, Protruding ear, Pleural effusion, Chylothorax, Atrial septal defect,... |
ORPHA:2526 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis, Waddling gait |
ORPHA:2839 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Oligosacchariduria |
ORPHA:2483 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Hypospadias, Cardiomegaly, Cryptorchidism, ... |
ORPHA:3472 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Microphthalmia, Pneumoth... |
OMIM:612289 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Torticollis, Hypospadias, Cryptorchidism, Wide nasal bridge, Horseshoe kidney, Cli... |
OMIM:609945 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged l... |
ORPHA:449432 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Respiratory insufficiency, Respi... |
OMIM:139210 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... |
ORPHA:75565 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Cachexia, Cryptorchidism, Hypoplasia of the iris, Irritability, S... |
ORPHA:649 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:306400 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Pneumonia, Anorexia, Follicular hyperplasia, Splenomegaly,... |
OMIM:619381 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... |
ORPHA:857 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia majora, Bi... |
OMIM:263650 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... |
OMIM:617718 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
Familial Mediterranean Fever |
|
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... |
ORPHA:342 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Papilledema, Anemia |
OMIM:127000 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Microphthalmia, Ataxia |
OMIM:278730 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Hearing impairment, Cardiomegaly |
ORPHA:79280 |
Tetraamelia Syndrome 1 |
|
Asplenia, Urethral atresia, Adrenal gland agenesis, Low-set ears, Microphthalmia |
OMIM:273395 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Buphthalmos, Microtia, Atresia of the exte... |
OMIM:236670 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... |
OMIM:603457 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Cousin Syndrome |
|
Posteriorly rotated ears, Low-set ears, Microphthalmia, Microtia, first degree, Hydronephrosis, H... |
OMIM:260660 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Ectopic posterior pituitary, Hyperactivity, Small for gestational age, Opti... |
ORPHA:508488 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Abnormal pinna morphology, Conductive hearing impairment, Atrial septal defec... |
OMIM:164200 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea |
ORPHA:91387 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmia |
OMIM:109400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Fraser Syndrome 1 |
|
Anophthalmia, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Bilateral microphthalmos, C... |
OMIM:219000 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Hematuria, Lymphadenopathy, L... |
ORPHA:536 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcif... |
ORPHA:51608 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Large earlobe, Supernumerary nipple, Hypoplasia of the ear cartilage |
ORPHA:1236 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Failure to thrive |
OMIM:610768 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, Microtia, Abnormal parotid g... |
OMIM:154500 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, EEG abnormality |
ORPHA:2612 |
Nance-Horan Syndrome |
|
Microphthalmia, Macrotia |
OMIM:302350 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox... |
OMIM:309000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Tremor, Splenomegaly, Lymphadenopathy, Chronic rhinitis, Pulmonary arterial ... |
ORPHA:667 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cry... |
OMIM:613406 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Anophthalmia, Cryp... |
ORPHA:2052 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Short nose, Failure to thrive |
OMIM:601812 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Asthma, Ovarian neoplasm, Adrenoco... |
ORPHA:100079 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Respiratory insufficiency, Abdominal situs inversus, Tracheomalacia, Microphthalmia |
ORPHA:2108 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Cryptorchidism, Anotia, Microphthalmia |
ORPHA:3412 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... |
ORPHA:261537 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Chronic sinusitis |
OMIM:619607 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... |
ORPHA:2152 |
Monosomy 9P |
|
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruct... |
ORPHA:261112 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Plague |
|
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarge... |
ORPHA:707 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Protruding ear, Nephrocalcinosis, Vesic... |
ORPHA:904 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Short nose, Failure to thrive |
ORPHA:364577 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Optic atrophy |
OMIM:618727 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Ventricula... |
OMIM:608670 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Recurren... |
OMIM:256040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Microtia, Optic nerve hypoplasia, Low-set ears |
OMIM:614643 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Low-set ears |
OMIM:251230 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy |
ORPHA:32960 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Tu... |
ORPHA:79078 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the ante... |
ORPHA:449563 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Optic... |
ORPHA:141099 |
Cherubism |
|
Marcus Gunn pupil, Submandibular lymph node enlargement |
OMIM:118400 |
Oculo-Palato-Cerebral Syndrome |
|
Thickened helices, Microphthalmia, Asthma, Macrotia |
ORPHA:2714 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Hydronephrosis |
ORPHA:100078 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Ureterocele, Microphthalmia |
OMIM:616734 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lympha... |
ORPHA:509 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Horseshoe kidney, Microphthalmia, Failure to thrive, True anophthalmia |
ORPHA:1106 |
Chikungunya |
|
Epistaxis, Cervical lymphadenopathy, Lymphadenopathy, Depression |
ORPHA:324625 |
Aicardi Syndrome |
|
Optic disc coloboma, Optic atrophy, Protruding ear, EEG abnormality, Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Roberts Syndrome |
|
External ear malformation, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmi... |
ORPHA:3103 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Lymphadenopathy, Anemia, Weight loss |
ORPHA:85408 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri... |
ORPHA:653 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... |
ORPHA:261552 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Absent earlobe |
OMIM:612109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Supernumerary nipple, Uplifted earlobe, Hypospa... |
OMIM:235730 |
Momo Syndrome |
|
Bilateral microphthalmos, Obesity, Large for gestational age |
ORPHA:2563 |
Kawasaki Disease |
|
Proteinuria, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Irritab... |
ORPHA:2331 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set, posteriorly rotated ... |
ORPHA:306542 |
Isolated Arrhinia |
|
Respiratory distress, Microphthalmia, Microtia |
ORPHA:1134 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Blau Syndrome |
|
Splenomegaly, Dyspnea, Stage 5 chronic kidney disease, Lymphadenopathy, Pulmonary arterial hypert... |
ORPHA:90340 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... |
OMIM:268300 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Sensorineural hearing impairment, Prot... |
OMIM:612474 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Posteriorly rotated ears, Facial palsy, Supernumerary nipple, Hypospadias, Cryptorc... |
OMIM:113620 |
Holoprosencephaly 7 |
|
Bilateral microphthalmos, Wide nasal bridge, Microphthalmia, Short nose, Panhypopituitarism |
OMIM:610828 |
Aicardi Syndrome |
|
Recurrent pneumonia, Optic atrophy, Optic disc coloboma, Hepatoblastoma, Microphthalmia |
OMIM:304050 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Ventricular septal defect |
OMIM:259770 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Mixed hearing impairment, Anophthalmia, Supernumerary nipple, Cryptorchidis... |
OMIM:305600 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Congenital hypoparathyroidism, Decreased testicular size, ... |
ORPHA:93325 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Transposition of the great arteries, Low-set ears, Mic... |
OMIM:256520 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Renal hypoplasia, Protr... |
OMIM:607932 |
Curry-Jones Syndrome |
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Microphthalmia |
OMIM:601707 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Unilateral deafness, Lens coloboma, Cupped ear, Anterior creases of earl... |
OMIM:619539 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
Holoprosencephaly 1 |
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Microphthalmia, Micropenis, Single ventricle |
OMIM:236100 |
Craniofacial Microsomia 1 |
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Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Anophthalmia, Ventricular septa... |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Bicuspid aortic valve, Abnormal pinna morphology, Aganglionic megacolon, Hypospadia... |
OMIM:309800 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, Homocystinuria |
OMIM:601552 |
Monosomy 13Q14 |
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Thickened helices, Microphthalmia, Low-set ears, Protruding ear |
ORPHA:1587 |
Holoprosencephaly 2 |
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Microphthalmia, Anterior pituitary agenesis, Single ventricle |
OMIM:157170 |
Noonan Syndrome 1 |
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Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
Adenocarcinoma Of The Anal Canal |
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Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Hypoplasia of the iris, Peripapillary atrophy, Microphthalmia, Facial paralysis |
OMIM:175780 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... |
OMIM:182250 |
Frontofacionasal Dysplasia |
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Microphthalmia, Short nose |
OMIM:229400 |