| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| 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 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Babinski sign, Abnormal pyra... |
ORPHA:320391 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| 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 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ... |
OMIM:615897 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| 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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Premature ovarian insufficiency, Abnormal cerebellum morphology, Babinski ... |
ORPHA:101006 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Seizure, Decreased circulating total IgM, Sc... |
OMIM:300861 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| 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 |
| 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 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor, Seizure, Cerebellar hypoplasia, Scoliosis |
OMIM:213000 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... |
OMIM:618459 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Hepatomegaly, Recurrent skin i... |
OMIM:620210 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Intrauteri... |
OMIM:300869 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morpholog... |
ORPHA:2585 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Ataxia, Scoliosis |
ORPHA:2802 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| 49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal ... |
ORPHA:453533 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... |
OMIM:618944 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Microlissencephaly |
|
Cerebellar atrophy, Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset,... |
ORPHA:1083 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent upper respiratory t... |
OMIM:619752 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-based gait, R... |
OMIM:607136 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Recurrent aspiration pneumonia, Abnormal lower motor neuron morphology, Waddling gait, Bi... |
ORPHA:2590 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Decreased circulating IgG level, Cerebral palsy, Microcephaly, Hypoplasia of ... |
OMIM:618973 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure with focal... |
ORPHA:599373 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... |
OMIM:102700 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Res... |
OMIM:618276 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
| Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidi... |
OMIM:305400 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Microcephaly, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, R... |
OMIM:225753 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm... |
OMIM:619302 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Partial agenesis of the corpus callosum, Gliosis, Basal ganglia gliosis, Agen... |
ORPHA:79243 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Microcephaly, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epileptic... |
OMIM:614959 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemimegalenc... |
ORPHA:99802 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Neonatal respiratory distress, Apnea, Microcep... |
ORPHA:168486 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Increased vertebral height, Splenomega... |
OMIM:248500 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ... |
ORPHA:2232 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
| Perrault Syndrome 5 |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr... |
OMIM:616138 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ... |
OMIM:143100 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Thoracic scoliosis, Prematu... |
ORPHA:2959 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Sneddon Syndrome |
|
Tremor, Seizure, Decreased circulating total IgM, Ischemic stroke, Impaired distal tactile sensat... |
OMIM:182410 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp... |
OMIM:619510 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... |
OMIM:609195 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Hypoplasia of the pons, Fo... |
OMIM:619301 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Microcephaly, Abnormal rib morphology, Decreased circulating to... |
ORPHA:2643 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl... |
OMIM:619705 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Cerebellar hypoplas... |
OMIM:604213 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema, Intrauterine growth retardation |
OMIM:616570 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Leukoencephalopathy... |
OMIM:221820 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Decreased circulating antibody level, Gait distur... |
ORPHA:2572 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... |
ORPHA:330050 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Tremor, Splenomegaly, Hypogonadism, Decreased serum testosterone concentra... |
OMIM:201100 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal... |
ORPHA:157941 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Elevated circulating creatine kinase ... |
OMIM:619518 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... |
OMIM:610185 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte... |
OMIM:256731 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br... |
OMIM:614946 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory distress, Psoriasiform der... |
ORPHA:221139 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... |
OMIM:607317 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Gliosis, Aspiration pneumonia, Hepatomegaly, Ataxia, Micronodular cirrhosis, Seizure, Myoclonus, ... |
OMIM:301072 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hyper... |
ORPHA:508533 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Babinski sign, Impaired vibration sensation in the lowe... |
OMIM:159550 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... |
ORPHA:204 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Decreased circulating antibody level, Seizure, Gait disturb... |
ORPHA:85317 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Microcephaly, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... |
ORPHA:397596 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Generalized-onset seizure, Unilateral polymicrogyria, Infantile spa... |
OMIM:610031 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Atopic dermatitis, Hypochromic m... |
ORPHA:3240 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Ataxia, Reduced cerebral white matter volume, Dysplastic corpus c... |
OMIM:620317 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Aplasia/Hypoplasia of the cerebellum, Hyperlordosis, Tremor, Cryptorchidism, Hyper... |
ORPHA:1192 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Ovarian cyst, Increased circulating cortisol level, Scoliosi... |
ORPHA:562 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Tay-Sachs Disease |
|
Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, ... |
ORPHA:845 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... |
OMIM:300988 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Kyphoscoliosis, Microcephaly, Basal ganglia calcifi... |
OMIM:214150 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Seizure, Ab... |
OMIM:614561 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Infertility, Erec... |
ORPHA:465508 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Microcepha... |
ORPHA:457240 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... |
OMIM:615362 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver,... |
OMIM:235550 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Postnatal growth retardation, Cryptorchidism, Inability to walk, Abnormal circulating creatine ki... |
ORPHA:319332 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Diffuse cerebral atrophy, Gliosis, Tongue fasciculations, Ataxia, Respiratory insufficiency, Seiz... |
OMIM:617193 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath... |
OMIM:221770 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis... |
OMIM:300310 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Hepatomegaly, Apnea, Decreased circula... |
ORPHA:79330 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Myopathy With Extrapyramidal Signs |
|
Clonus, Short neck, Tremor, Chorea, Choreoathetosis, Encephalomalacia, Cerebellar dysplasia, Hepa... |
OMIM:615673 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Microcephaly, Babinski sign, Spastic tetraplegia, Sei... |
OMIM:612936 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Microcephaly, Tremor, Abnormal cerebellum morphology, Cryptorchidis... |
OMIM:300957 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
| Roifman Syndrome |
|
Biconvex vertebral bodies, Eczema, Eosinophilia, Microcephaly, Recurrent pneumonia, Hepatosplenom... |
ORPHA:353298 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:3319 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males, Progressive spastic paraplegia |
ORPHA:2826 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... |
OMIM:616719 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microl... |
ORPHA:89844 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Cortical dysplasia, Atrophy/Degeneration affecting t... |
OMIM:619971 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Thr... |
OMIM:610539 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... |
OMIM:613101 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalize... |
ORPHA:2524 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulatin... |
OMIM:615758 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:618090 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Apnea, Clonus, Focal motor status epilepticus, Microcephaly, Focal-onset sei... |
OMIM:614498 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Psoriasiform dermatitis, Decreased response to growth hormone st... |
OMIM:615577 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... |
OMIM:616540 |
| Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Seizure, Subcortical cerebral atrophy... |
ORPHA:33445 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| Lead Poisoning |
|
Somatic sensory dysfunction, Decreased female libido, Abnormality of the menstrual cycle, Imbalan... |
ORPHA:330015 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
| Leigh Syndrome |
|
Chorea, Choreoathetosis, Encephalomalacia, Gliosis, Neutropenia, Focal T2 hyperintense basal gang... |
ORPHA:506 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... |
OMIM:300423 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Paraplegia, Lymphadenopathy, Seizure, Paresthesia, Anemia |
ORPHA:158014 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro... |
OMIM:613179 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Microcephaly, Hypoplasia of the pons, Chorea, Opisthotonus, Seizure, Abnormal cerebral white matt... |
OMIM:277470 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea |
OMIM:602390 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Cerebral calcification, Chilblains, Microcephaly, Tremor, Splenom... |
OMIM:615010 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Ataxia, Tremor, Polycystic ovaries, Decreased circulating antib... |
ORPHA:100 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Intes... |
ORPHA:90362 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
| Cernunnos-Xlf Deficiency |
|
Microcephaly, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... |
ORPHA:169079 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade... |
ORPHA:3392 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Oliv... |
OMIM:615157 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... |
OMIM:226990 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... |
OMIM:109150 |
| Developmental And Epileptic Encephalopathy 71 |
|
Simplified gyral pattern, Cheyne-Stokes respiration, Respiratory insufficiency, Seizure, Respirat... |
OMIM:618328 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Classic Galactosemia |
|
Male infertility, Speech apraxia, Decreased serum insulin-like growth factor 1, Premature ovarian... |
ORPHA:79239 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Acne, Recurrent sk... |
OMIM:300635 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Microcephaly, Seizure, Gliosis, Scoliosis, Periventricular leukomalacia |
ORPHA:357225 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Decreased mitochondrial number |
ORPHA:352470 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Abnormal r... |
ORPHA:1163 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Cerebellar vermis hypoplasia, Hypospadias, Short neck, Hypoplasia of the pons, ... |
ORPHA:495875 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Cerebral calcification, Eczema, Decreased proportion of CD8-positive T cells, Increased circulati... |
OMIM:617241 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Apraxia, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, In... |
ORPHA:93952 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short stature, Short neck, Abnormality of the thyroid gland, ... |
ORPHA:2234 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ... |
OMIM:613162 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro... |
ORPHA:169160 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Skin rash, Ataxia, Infantile spasms, Chorea, Spastic tetraple... |
OMIM:618321 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Kyphoscoliosis, Involuntary movements, Cryptorchidism, Kyphosis, Unst... |
ORPHA:3063 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Microcephaly, Periodontitis, Recurrent otitis media, Reduction of neutro... |
OMIM:266265 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Bronchitis, Otitis media, Poor hand-eye coordination, Decreased circ... |
ORPHA:420741 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Enla... |
OMIM:616005 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata... |
OMIM:615816 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, D... |
OMIM:275350 |
| Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Respiratory insufficiency, Seizure, Abnormal vertebral morphology, Anemia |
ORPHA:337 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Respiratory distress, Hepatomegaly, Neuronal loss in basal ganglia, Cerebral ... |
OMIM:604377 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
| Meningioma |
|
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... |
ORPHA:2495 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Clonus, Microcephaly, Cryptorchidism, Babinski sign, Spastic tetra... |
OMIM:619847 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Generalized-onset seizure, Respiratory insufficiency due to mus... |
OMIM:159950 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating to... |
OMIM:612301 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Para... |
ORPHA:79124 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Short neck, Tremor, Seizure, Abnormal cerebral white matter morphology |
OMIM:618951 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... |
ORPHA:79263 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circul... |
OMIM:208900 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensor... |
OMIM:604484 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Short neck, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:619750 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an... |
ORPHA:33355 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Congenital laryngeal stridor, Choreoathetosis, I... |
OMIM:312080 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Seizure, Status epilepticus, Gliosis, Hypoplasia of the corpus ... |
OMIM:616239 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni... |
ORPHA:572 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Retr... |
OMIM:619737 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal globus pallidus morphology, Abnormal lung morphology, Axonal degeneration, Abnormal pyra... |
ORPHA:909 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
| Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Seizure, Dysplastic corpus callosum, Abnormal cerebral... |
ORPHA:500166 |
| Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio... |
OMIM:604218 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Athetosi... |
ORPHA:404454 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Thrombocytopenia, Pr... |
OMIM:227645 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Babinski sig... |
OMIM:616505 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, Short statur... |
ORPHA:97360 |
| Rigid Spine Syndrome |
|
Waddling gait, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testi... |
ORPHA:97244 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Lissencephaly Due To Lis1 Mutation |
|
Cerebellar vermis hypoplasia, Opisthotonus, Aspiration pneumonia, Cavum septum pellucidum, Pachyg... |
ORPHA:95232 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Elevated circulating creatine kinase concent... |
ORPHA:435660 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly, Abnormal form of the vertebral bodies |
ORPHA:1802 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Hypothyroidis... |
OMIM:620005 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... |
OMIM:268020 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... |
OMIM:605258 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Agyria, I... |
ORPHA:171680 |
| Cln5 Disease |
|
Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Corpus ca... |
ORPHA:228360 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Tremor... |
OMIM:222300 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Decreased response to growth hormone stimulation test, Abnormality of... |
ORPHA:289494 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea |
OMIM:600705 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Seizure, Respiratory failure, Gliosis... |
OMIM:256000 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Hyperintensity of cerebral white matter on MRI, Hyperhidrosis, Opisthotonus... |
OMIM:617013 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Respiratory insufficiency, Cerebral atr... |
OMIM:616900 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral pattern, Seizure, T lymphocytopenia,... |
OMIM:615966 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bilateral basal ganglia lesions, Lower limb spasticity, Microcephaly, Gliosis, Hepatic steatosis |
OMIM:615119 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Diffuse leukoence... |
OMIM:169500 |
| Atypical Rett Syndrome |
|
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Sudden episodic apnea, Seizure, Gait... |
ORPHA:3095 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Focal motor ... |
ORPHA:1929 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... |
OMIM:619126 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Intrauterine growth r... |
ORPHA:96181 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... |
OMIM:618165 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hypertonia, Gliosis, Hypov... |
OMIM:203700 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Microcephaly, Decreased circulating antibody level, Ane... |
OMIM:618116 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Bilateral tonic-clonic seizure with generalized onset, Simple febrile s... |
ORPHA:1445 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
| Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul... |
ORPHA:37748 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Co... |
ORPHA:300573 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Interstitial emphy... |
OMIM:619708 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo... |
OMIM:617810 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Th... |
OMIM:227650 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Kyphosis, Thyroiditis, Hemimegalence... |
OMIM:158350 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Decreased circula... |
OMIM:616740 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Seizure, Herpes simplex encephalitis, Gliosis |
OMIM:613002 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral... |
OMIM:616817 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Seizure, Colitis, Status epilepticus, Decreased proportion ... |
OMIM:616098 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Confluent hyperintensity of cere... |
ORPHA:280210 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... |
OMIM:618060 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... |
OMIM:213600 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... |
OMIM:619381 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Microcephaly, Cerebral atrophy, Seizure, B lymphocytopenia, Tongue fasciculations, Hypothyroidism... |
OMIM:619851 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetr... |
OMIM:615924 |
| Mevalonic Aciduria |
|
Cerebellar atrophy, Normocytic hypoplastic anemia, Agenesis of cerebellar vermis, Skin rash, Atax... |
OMIM:610377 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio... |
OMIM:606367 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... |
OMIM:615214 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Reduced cerebral white matter volume, Bronchiectasis, Respiratory insufficiency, Simplifie... |
OMIM:618253 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cessation of head growth, Unsteady gait, Leukoencephalopathy, Seizure, Gait disturbance, Gliosis,... |
OMIM:603896 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Posterior atrophy of corpus callosum, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure,... |
OMIM:619422 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
| Atelis Syndrome 1 |
|
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Lumbar kyphos... |
OMIM:620184 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Brain atrophy, Age... |
ORPHA:85179 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Cerebral calcification, Increased intervertebral space, Irregular vertebral endplates, T lymphocy... |
OMIM:607944 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... |
ORPHA:254516 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pne... |
OMIM:607143 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, S... |
ORPHA:139485 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Premature ovarian insufficiency, Amenorrhea |
OMIM:619425 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Basal ganglia calcification, Hypertonia, Hepatic... |
OMIM:615846 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Eczema, Thoracolumbar scoliosis, Keratitis, Incre... |
OMIM:618523 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Hypoplasi... |
OMIM:617916 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Leukoencephalopathy, Gait ataxia, Dysmetria, Distal sensory i... |
OMIM:618387 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Dyspnea, Seizure |
ORPHA:87876 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, Normochromic microcytic anemia... |
OMIM:610198 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... |
ORPHA:125 |
| Mirage Syndrome |
|
Thrombocytopenia, Cryptorchidism, Paraplegia, Seizure, Leukopenia, Adrenal insufficiency, Scolios... |
OMIM:617053 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle d... |
ORPHA:306669 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Thrombocytopenia, Pr... |
OMIM:600901 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal... |
OMIM:208920 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... |
ORPHA:381 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
| Hemochromatosis, Type 3 |
|
Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Apnea, Episodic tachypnea, Parkinsonism, Poor... |
ORPHA:79264 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... |
OMIM:615234 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s... |
OMIM:252650 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetrap... |
OMIM:617710 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... |
OMIM:616113 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Generalized-onset ... |
ORPHA:357058 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Cortical dysplasia, Aspiration pneumonia, Pachygyria, Polymicrogyria, Progressive microcephaly, A... |
OMIM:609528 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
| Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Clumsiness, Subcortical ... |
ORPHA:309288 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Lissencephaly, X-Linked, 2 |
|
Seizure, Lissencephaly, Gliosis, Spasticity, Pachygyria, Agenesis of corpus callosum, Decreased t... |
OMIM:300215 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
| Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... |
OMIM:235200 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinsk... |
OMIM:618093 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... |
OMIM:612016 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... |
OMIM:618067 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios |
ORPHA:2189 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cerebral calcification, Sho... |
OMIM:617303 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Cerebral atrophy, Spa... |
OMIM:615838 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Hepatic cysts, Decreased circulating antibody level, Seizure, Platy... |
OMIM:617425 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Bilateral tonic-clonic seizure, Cerebral dysmyelination, Corpus... |
OMIM:261515 |
| Japanese Encephalitis |
|
Respiratory distress, Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology,... |
ORPHA:79139 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Superfici... |
ORPHA:83617 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:619028 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Prominent ... |
OMIM:152800 |
| Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... |
ORPHA:528 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:244200 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Cerebral calcification, Autoimmu... |
ORPHA:1855 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral ... |
OMIM:242900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Seizure, Conjunctivitis... |
OMIM:603552 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Abnormal pyramidal sign, Thin ribs,... |
OMIM:614833 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Generalized-onset seizure, Tremor, Dysmetria, Hepatic fibrosis, Dec... |
OMIM:212065 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Agenesis of corpus callosum, Abnormality o... |
OMIM:250620 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Encephalomalacia, Decerebrate rigidity, Aspiration... |
ORPHA:354 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Neonatal death, Decreased... |
OMIM:608104 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cerebr... |
OMIM:616084 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias, Anemia, Intrauterine growth retardation |
OMIM:620135 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis, Cerebral edema |
OMIM:608033 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Ataxia, Seizure, Progressive spasticity, Panhypogammaglobulinemia |
ORPHA:251009 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis, Chronic hemol... |
OMIM:618278 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... |
ORPHA:329284 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, X... |
ORPHA:289390 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... |
OMIM:615400 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Dystonia, Microcephaly, Choreoat... |
ORPHA:431361 |
| Gapo Syndrome |
|
Short stature, Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Growth delay... |
ORPHA:2067 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Microcephaly, Tremor, Focal-onset ... |
OMIM:619092 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Hypoparathyroidism, Bilateral tonic-clonic seizure, Abnormal lung lobation, G... |
ORPHA:369837 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Infantile spasm... |
ORPHA:79329 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Apnea, Ataxia, Kyphoscoliosis, Short neck, Microcephaly, Tremor, Parkin... |
OMIM:300055 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral calcification, Apnea, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Seizure, A... |
OMIM:618886 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... |
OMIM:302800 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Primary ... |
ORPHA:79083 |
| Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Pancytopenia, Hypospadias, Proportionate short stature, Cryptorchidism, Hemivertebrae... |
OMIM:620331 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Hypogonadism, ... |
ORPHA:85450 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chiari type I malformation, Bradykinesi... |
OMIM:617836 |
| Sialidosis Type 1 |
|
Ataxia, Tremor, Kyphosis, Splenomegaly, Slurred speech, Abnormal form of the vertebral bodies, Se... |
ORPHA:812 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Abnormal cortical gyration, Impaired T cell funct... |
OMIM:614576 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata... |
ORPHA:96184 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Dystonia, Ataxia, Microcephaly, Tremor, Recurrent pneum... |
OMIM:616271 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Three M Syndrome 1 |
|
Hypospadias, Short stature, Short neck, Hyperlordosis, Increased vertebral height, Postnatal grow... |
OMIM:273750 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Dystonia, Respirato... |
OMIM:615512 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Abnormal lung morphology, Chorea, Abno... |
ORPHA:646 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Cockayne Syndrome |
|
Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Hypertonia, Gliosis... |
ORPHA:191 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Kyphosis, Cortical dysplasia, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Seiz... |
OMIM:300354 |
| Brucellosis |
|
Liver abscess, Bronchitis, Chorea, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of... |
ORPHA:1304 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Ab... |
ORPHA:35069 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Hypoplasi... |
OMIM:607694 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Tremor, Kyphoscoliosis |
OMIM:619099 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti... |
OMIM:618495 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Respiratory insufficiency... |
ORPHA:27 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
| Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Psoriasiform dermatitis, Upper limb postural tremor, Abnormal... |
ORPHA:458803 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,... |
ORPHA:90117 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Anemia, Seizure, Choreoathetosis, Neu... |
ORPHA:79312 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Vertebral segmentation defect, Difficulty walking, ... |
ORPHA:531151 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Thoracic scoliosis, Cerebellar vermis hypoplasia, Hypospadias, Short stature,... |
OMIM:611209 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Elevated hemoglobin A1c, Microcephaly, Cryptorchidism, Recurrent... |
OMIM:210900 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Microcephaly, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypocellular... |
OMIM:615190 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Cerebral dysmyelination, Respiratory insufficiency, Microcephaly |
OMIM:201550 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, In... |
ORPHA:206594 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Microcephaly... |
OMIM:617988 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Dysplastic corpus callosum, Hypochromic microcytic anemia, Seizure, ... |
OMIM:619423 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... |
OMIM:128100 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Recurrent respiratory infections, He... |
OMIM:613385 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Short neck, Neutropenia, Lumbar hyperlordosis, Minimal change glomerulo... |
ORPHA:1830 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... |
ORPHA:39041 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, ... |
ORPHA:363400 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Seizure, Pontocerebellar atroph... |
OMIM:608799 |
| Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... |
OMIM:602668 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Growth delay, Azoospermia, Decreased ... |
ORPHA:300298 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosi... |
OMIM:619835 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hyperlordosis, Dyspnea, Inability to walk, Cardiorespiratory ar... |
ORPHA:26791 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... |
OMIM:242860 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Diabetes mellitus, Hypoplastic sacrum, Rhizomelia, Oligozoospermia, Growth delay, ... |
OMIM:614813 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
| Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Abnormal medul... |
ORPHA:297 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Cough, Abnormal vertebral morphology, Ataxia, Portal hypertension, Ab... |
ORPHA:284 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Hypothyroidis... |
ORPHA:83471 |
| Dyskeratosis Congenita, Digenic |
|
Microcephaly, Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicu... |
OMIM:620040 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Short neck, Microvesicular hepatic steatosis, Gliosis, Elevated hepatic iron concentration, Hepat... |
OMIM:300868 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign |
OMIM:260540 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
| Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Generalized-onset seizure, Partial agenesis of the corpus ca... |
ORPHA:33364 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Asthma, Seizure, Decreased circulating total IgM, Chiari malformation,... |
OMIM:618162 |
| Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Splenomega... |
ORPHA:47612 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Dystonia, Spatulate ribs, T2 hypointense ... |
ORPHA:79255 |
| Even-Plus Syndrome |
|
Short neck, Dysplastic corpus callosum, Vertebral clefting, Atopic dermatitis, Coronal cleft vert... |
OMIM:616854 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Microcephaly, Tremor, Inability to walk, Choreoathetosis, Sei... |
OMIM:617664 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Thrombocytopenia, Pa... |
OMIM:227646 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gait disturbance... |
ORPHA:88619 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... |
OMIM:614732 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Anhidrosis, Pain insensitiv... |
OMIM:615273 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... |
OMIM:157640 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Tremor, Leukoencephalopathy, Decreased circulating antibody level, Rec... |
OMIM:617744 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
| Trisomy 1Q |
|
Increased nuchal translucency, Anophthalmia, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... |
ORPHA:314632 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616171 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
| Aceruloplasminemia |
|
Tremor, Chorea, Gait ataxia, Hepatic fibrosis, Elevated hepatic iron concentration, Abnormal corp... |
ORPHA:48818 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Short stature, Ataxia, Cryptorchidism, Cerebellar vermis atr... |
OMIM:616541 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram... |
OMIM:606002 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Basal ganglia calcification, Hypertonia, Hepatic fibrosis, Hypothyroidism... |
OMIM:619487 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
| Listeriosis |
|
Back pain, Respiratory distress, Liver abscess, Tremor, Abnormal cellular immune system morpholog... |
ORPHA:533 |
| Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respir... |
ORPHA:83313 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity |
OMIM:616494 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, O... |
OMIM:612438 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Apnea, Ataxia, Portal hypertension, Tremor, Splenomeg... |
ORPHA:1454 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Osteoarthrit... |
ORPHA:77259 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat... |
ORPHA:529665 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Dystonia, Microcephaly, Hypoplasia of the pons, Simplif... |
OMIM:617669 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Multifocal seizures, ... |
ORPHA:572798 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Intrauterine growth retardation |
ORPHA:858 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ... |
ORPHA:683 |
| Dermotrichic Syndrome |
|
Seizure, Abnormal vertebral morphology, Anemia, Hypohidrosis |
ORPHA:99688 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Waddling gait, Hyperlordosis,... |
OMIM:615356 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Cerebral calcification, Ataxia, Rigidity, Focal-onset seizure, Kyphosis... |
OMIM:618476 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... |
ORPHA:37042 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebellar vermis hypoplasia, Cerebral palsy, Microcephaly, Dysplastic c... |
OMIM:620001 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Tremor, Splenomegaly, Ly... |
ORPHA:3162 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epile... |
OMIM:607426 |
| Lambert Syndrome |
|
Jaundice, Cholestasis, Decreased circulating antibody level, Intrahepatic biliary atresia, Aplasi... |
ORPHA:1296 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Pancytopenia, Cerebellar vermis hypoplasia, Hypospadias, Proportionate short st... |
OMIM:210600 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neoplasm of the scr... |
ORPHA:370348 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Cerebral calcification, Ataxia, Microcephaly, Anemia, Hypertonia, ... |
ORPHA:3322 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Cerebral calcification, Eosinophilia, Megaloblast... |
ORPHA:90045 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... |
OMIM:600955 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal... |
ORPHA:500144 |
| Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1466 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Microcephaly, Inability to walk, Gait ataxia, Seizure, Hypoplas... |
DECIPHER:45 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Seizure, Cerebellar hypoplasia, Scoliosis, Agenesis of corpus callosum |
ORPHA:238750 |
| Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Short neck, Micr... |
OMIM:609053 |
| Bone Marrow Failure Syndrome 2 |
|
Microcephaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:615715 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia |
OMIM:616490 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Anemia, Choreoathet... |
ORPHA:289916 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Hemiparesis, Seizu... |
OMIM:617542 |
| Lesch-Nyhan Syndrome |
|
Short stature, Megaloblastic anemia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal... |
OMIM:300322 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Rib fusion, Perivent... |
ORPHA:544488 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Cerebral atrophy, Respiratory failure, Myoclonus, Aspira... |
OMIM:619057 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic ... |
OMIM:619738 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dyston... |
OMIM:617284 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... |
ORPHA:228123 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Mediastinal lymph... |
OMIM:614742 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Microcephaly, Seizure, Abnormal cerebral white matter morphology, Gliosis, Cerebellar hypoplasia,... |
ORPHA:261652 |
| Cat-Eye Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:195 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Lumbar hyperlordosis, Cerebral calcificat... |
ORPHA:505248 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Leukocytosis, Hepat... |
OMIM:615688 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress,... |
OMIM:312170 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... |
ORPHA:811 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis,... |
OMIM:127550 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified g... |
OMIM:619179 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Pulmonary fib... |
OMIM:619767 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Generalized-onset seizure, Skin rash, Pneumonia, Cerebral calcification, Focal... |
ORPHA:247691 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Chiari type I malformation, Bone marrow hypocellularity, Scoliosis, Anemia |
OMIM:617244 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine ... |
ORPHA:263297 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Ataxia, Tremor, Abnormal form of the ver... |
ORPHA:475 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cereb... |
OMIM:617281 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Microcephaly, Spastic tetraplegia, Cere... |
OMIM:252160 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis |
ORPHA:99014 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... |
ORPHA:228119 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Dysplastic corpus callosum, Hydrocele testis, Seizure, Cerebellar hypoplasia, Neona... |
OMIM:618810 |
| Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Bronchogenic Cyst |
|
Back pain, Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology,... |
ORPHA:2357 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... |
ORPHA:293978 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Seizure, Agenesis of corpus callosum, Gait d... |
ORPHA:220493 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Abnormality of the liver, Status epile... |
OMIM:614307 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Scoliosis, Microcephaly |
OMIM:251240 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski sign, Ab... |
ORPHA:447753 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Irregular menstruation, Polycys... |
ORPHA:79240 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
| Q Fever |
|
Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He... |
ORPHA:781 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
| Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc... |
OMIM:616433 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Microcephaly, Dysplastic corpus callosum, Hypertonia |
OMIM:604273 |
| Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Sinusitis, Pneumonia, Ataxia, Respiratory tract infection,... |
ORPHA:68 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia |
OMIM:611490 |
| Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Aplastic anemia, Short neck, Patent ductus arteriosus, Growth del... |
OMIM:300514 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Hepatosplenomegaly, Anemia, Th... |
ORPHA:210110 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Rigidity, Splenomegaly, Oculomotor apraxia, Cerebral atrophy, Anemia, Seizur... |
OMIM:230900 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Tremor, Diffuse white matter abnormalities, Inability to walk, Limb ... |
OMIM:218000 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
| Wilson Disease |
|
Back pain, Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Clumsiness, Anemia, Arthritis, Cirrho... |
ORPHA:905 |
| Macrocephaly/Autism Syndrome |
|
Speech apraxia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testi... |
OMIM:605309 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Eczema, Microcephaly, Erythema nodosum, Cryptorchidism, Babinski sign, T... |
ORPHA:3132 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Acrodysostosis |
|
Hypogonadism, Cryptorchidism, Abnormality of female external genitalia, Irregular menstruation |
ORPHA:950 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... |
OMIM:230800 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Cerebral calcification, Ataxia, Dystonia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Leuk... |
OMIM:612199 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Apnea, Tremor, Abnormal cerebellum morphology, ... |
OMIM:618056 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste... |
ORPHA:442835 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibr... |
OMIM:601104 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hem... |
ORPHA:77298 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Skin rash, Ataxia, Reduced natural killer cell activity, Thrombocytop... |
OMIM:603553 |
| Lig4 Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea |
OMIM:606593 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia |
ORPHA:168816 |
| Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting e... |
OMIM:170100 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Seizure, Gait disturbance, Scoliosis, Oculom... |
ORPHA:220497 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular menstruation, Polycys... |
ORPHA:264580 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Microcephaly, Thrombocytopenia, Congenital intracerebral calc... |
ORPHA:448237 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Con... |
OMIM:271510 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Se... |
ORPHA:3077 |
| O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Increased circulat... |
ORPHA:99965 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia |
ORPHA:54251 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Decreased response to growth hormone stimulation test, Cryptorchidi... |
OMIM:603467 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pancytopenia, Osteomyelitis, Hepatomegaly, Splenomegaly,... |
OMIM:259700 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
| Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Epistaxis, Pancreatic cysts, Thrombocytopenia, Abnormal sacru... |
ORPHA:464329 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidism, Kyphosis, Reduced alph... |
OMIM:301040 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Cryptorchidism, Cerebellar vermis hypoplasia, Poorly ossified verte... |
OMIM:619135 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
| Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Thoracic scoliosis, Hepatomegaly, Cerebral atrophy, Decreased circulating antibo... |
OMIM:606056 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Follicular hyperplasia, Pustule, Increased... |
OMIM:615934 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
| Rift Valley Fever |
|
Back pain, Skin rash, Paralysis, Paraparesis, Jaundice, Hepatitis, Uveitis, Anemia, Increased cir... |
ORPHA:319251 |
| Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Vacuolated lymphocytes, Increased c... |
ORPHA:228346 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Ataxia, Postnatal growth retardation, Cryptorchidism, Tremor, Hypohidrosis... |
ORPHA:90321 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Short neck, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus c... |
OMIM:619955 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... |
ORPHA:99867 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Intestinal lymphangiectas... |
OMIM:226300 |
| Typhoid |
|
Hepatomegaly, Skin rash, Epistaxis, Ataxia, Tremor, Splenomegaly, Abnormal pulmonary interstitial... |
ORPHA:99745 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Cerebellar atrophy, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytope... |
OMIM:620133 |
| Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Pancytopenia, Thickened ribs, Ataxia, Pneumonia, Short neck, Spastic parapleg... |
ORPHA:309282 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Hyperhi... |
ORPHA:83317 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Schizencephaly, Cerebellar ver... |
OMIM:242840 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
| Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Increased circulating androgen concentration, Cerebellar h... |
ORPHA:79320 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... |
OMIM:206900 |
| Aicardi-Goutières Syndrome |
|
Myositis, Cerebral calcification, Tremor, Porencephalic cyst, Abnormal pyramidal sign, Increased ... |
ORPHA:51 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hyperthyroidism, Tremor, Dysmetria, Progressive cerebellar ataxia, D... |
ORPHA:502423 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Cerebral white matter atrophy, Torticollis, Ataxia, Tremor, Rigidity, Leukoence... |
OMIM:617186 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Hyperhidrosis, Myoclo... |
OMIM:184850 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
| Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
| Vici Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the pons, Decreased circulating IgG2 level, Seizu... |
ORPHA:1493 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Hypertonia, Gliosis, Hypothyroidism, Ataxi... |
ORPHA:268261 |
| 12Q14 Microdeletion Syndrome |
|
Microcephaly, Tremor, Abnormality of the spleen, Chiari malformation, Scoliosis |
ORPHA:94063 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
| Smith-Kingsmore Syndrome |
|
Reduced cerebral white matter volume, Megalencephaly, Cryptorchidism, Perisylvian polymicrogyria,... |
OMIM:616638 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Inability to walk, Trunc... |
OMIM:618877 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling g... |
ORPHA:411602 |
| Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... |
OMIM:602481 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling, Mildly elevated creatine kinase |
ORPHA:397744 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... |
ORPHA:2552 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
| Glutathionuria |
|
Eczema, Tremor, Asthma, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Short stature, Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregul... |
ORPHA:3042 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Short stature, Ataxia, Cryptorchidism, Abnormal pyramidal sign, Spastic tetraplegia, Growth delay... |
ORPHA:2719 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Spontaneous Periodic Hypothermia |
|
Skin rash, Ataxia, Tremor, Hyperhidrosis, Aplasia/Hypoplasia of the corpus callosum, Seizure, Gai... |
ORPHA:29822 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Ar... |
ORPHA:324964 |
| Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Generalized-onset seizure, Clonus, Micr... |
OMIM:259720 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
| Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... |
OMIM:619574 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Short stature, Short neck, Postnatal growth retardation, Cryptorchidi... |
OMIM:257300 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Abnormal c... |
ORPHA:158048 |
| Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti... |
ORPHA:169090 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Apnea, Tachypnea, Recurrent aspiration pneumonia, Dandy-Walker malf... |
ORPHA:397715 |
| 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 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... |
OMIM:254900 |
| Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Splenomegaly, Myocarditis, Mediastinal lymphadenopa... |
ORPHA:3452 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Resp... |
OMIM:620327 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase... |
OMIM:617099 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypospadias, Patent ductus arteriosus, Decreased activity of mitoch... |
ORPHA:17 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Ataxia, Pulmonary fibrosis, Microcephaly |
OMIM:611943 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy,... |
OMIM:612387 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Cryptorchidism, Growth delay, Anemia |
OMIM:613951 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Cerebral atrophy, Chol... |
OMIM:124000 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Microcephaly, Keratitis, Splenomegaly, Neonatal asphyxia, Jaundice, T... |
ORPHA:525731 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Short neck, Tremor, Prominent protruding coccyx, Abnormal septum pe... |
OMIM:300966 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I... |
OMIM:256500 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, P... |
OMIM:617591 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Seizure, Gliosis, Scoliosis |
OMIM:120330 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
| Dpagt1-Cdg |
|
Hepatomegaly, Epileptic spasm, Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morpho... |
ORPHA:86309 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo... |
OMIM:615574 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, Microcephaly, Bilateral cryptorchidism, Cryptorchidism, Pulmonary artery stenosis, Tremor... |
OMIM:300998 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Se... |
OMIM:615895 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ak... |
OMIM:609454 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... |
ORPHA:99750 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... |
OMIM:618131 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Cerebral calcification, Ataxia, Eczema, Thyroiditis, Seizure, Iron deficiency ... |
OMIM:212750 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Gliosis, Pulmonary hypoplasia, Neonatal death, Hepa... |
OMIM:231680 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Glioma, Recurrent bronchitis, Dysgammaglobulinemia, Micro... |
OMIM:251260 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal globus pallidus morphology, Abnormality of the liver, Hypertonia, Polycythemia, Hepatome... |
ORPHA:309854 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Cough, Inability to walk, Opisthotonus, Seizure, Tip-toe gait, Gait disturb... |
ORPHA:216866 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Seizure, Apneic episodes in infancy,... |
OMIM:618222 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the... |
ORPHA:314679 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Short stature, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes m... |
ORPHA:769 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
ORPHA:158061 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
| Oculoskeletodental Syndrome |
|
Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal white matter lesions |
ORPHA:557003 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior w... |
OMIM:253200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, Jaundice, Tetraplegia, Lymphadenopathy, Sei... |
OMIM:267700 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... |
ORPHA:488627 |
| Monosomy 18Q |
|
Astrocytoma, Kyphoscoliosis, Microcephaly, Bilateral cryptorchidism, Diffuse white matter abnorma... |
ORPHA:1600 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Ataxia, Microcytic anemia, Keratitis, Microceph... |
ORPHA:99843 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic ... |
ORPHA:892 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Broad-based gait, Decreased response to growth hormone stimulat... |
OMIM:601808 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level, Microcephaly |
OMIM:616910 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... |
ORPHA:39812 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Hepato... |
OMIM:260400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Generalized-onset seizure, Ataxia, Dystonia, Microcephaly, Tremor, ... |
OMIM:220111 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impair... |
OMIM:617675 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Microcephaly, Respiratory insufficiency, Seizure, Scoliosis, Mastocytosis |
ORPHA:2135 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure,... |
OMIM:252150 |
| Gracile Bone Dysplasia |
|
Asplenia, Seizure, Hypoplastic spleen, Thin ribs |
OMIM:602361 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Neuronal loss in ce... |
OMIM:607485 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of... |
ORPHA:175 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopath... |
OMIM:614924 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:603194 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytop... |
OMIM:274000 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, Hypertonia, Otitis m... |
ORPHA:581 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| 3Mc Syndrome |
|
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Postnatal growth retardation, Prom... |
ORPHA:293843 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Cavitation of the basal ganglia, Writer's cramp, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, ... |
OMIM:606159 |
| Lassa Fever |
|
Back pain, Dyspnea, Jaundice, Seizure, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Ataxia, Seizure, Upper limb spasticity, Myoclonus, Scoliosis, Global brain atrophy, Gener... |
OMIM:619229 |
| 3Mc Syndrome 2 |
|
Torticollis, Hypospadias, Postnatal growth retardation, Cryptorchidism, Abnormality of the verteb... |
OMIM:265050 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... |
OMIM:613280 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:228390 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... |
ORPHA:100026 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Lym... |
ORPHA:139402 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Anemia, Testicular neoplasm, Ovarian neoplasm |
ORPHA:83469 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Malakoplakia |
|
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle |
ORPHA:556 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Recurrent pneumonia, Scoliosis, Hepat... |
OMIM:613327 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Alexander Disease |
|
Cerebral calcification, Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Megalencephaly, Hypo... |
ORPHA:58 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Abnormality of the menstrual cycle |
ORPHA:90308 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... |
OMIM:209900 |
| Shigellosis |
|
Acute colitis, Pneumonia, Abscess, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative co... |
ORPHA:810 |
| Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Kyphosis, Dysplastic corpus callosum, Hemivertebrae... |
OMIM:617140 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypoplastic vertebral ... |
ORPHA:3455 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Hyperlordosis, Restrictive ventilatory defect, Scoliosis, Loss of ambulation |
OMIM:253700 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Generalized-onset seizure, Megalencephaly, Focal-onset seizure, Asthma, Cryptorchidism, Decreased... |
ORPHA:457485 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation |
ORPHA:290 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Unilateral lung agenesis, Hemivertebrae, Simplified gyral pattern, Cer... |
ORPHA:500150 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Growth delay, Supernumerary v... |
OMIM:263750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abn... |
OMIM:620233 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Seiz... |
ORPHA:466768 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Bilateral tonic-... |
ORPHA:2072 |
| Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2 hypointense basal ganglia, I... |
ORPHA:25 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
| Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Paraplegia, Restrictive ventilatory defect, Dif... |
ORPHA:98897 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Cerebral white matter atrophy, Ataxia, Infantile spasms, Generalized clonic seizure... |
ORPHA:3008 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Dysplastic corpus callosum, Cryptorchid... |
OMIM:300967 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... |
OMIM:614162 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spasti... |
ORPHA:83629 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Short stature, Short neck, Cryptorchidism, Long penis, Truncal ataxia, Thin ribs, Ch... |
OMIM:264090 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Anemia, Growth delay, Intrauterine growth retardatio... |
ORPHA:93325 |
| Rat-Bite Fever |
|
Back pain, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphad... |
ORPHA:31205 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
| Alg9-Cdg |
|
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Hyperlor... |
OMIM:615873 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Hyperthyroidism, Ataxia, Goiter, Hypothyroidism, Tremor, Rigi... |
ORPHA:254892 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation |
OMIM:611134 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis, Parkinsonism |
OMIM:606688 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:881 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology |
OMIM:215250 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
ORPHA:85284 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Pachygyria, Splenomegaly, Pulmonary lymphangiectasia, Respirato... |
ORPHA:2136 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul... |
ORPHA:70578 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137100 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
| Monosomy 18P |
|
Microphthalmia, Lymphedema |
ORPHA:1598 |
| Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria... |
ORPHA:1934 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia |
ORPHA:1101 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:614219 |
| Tetrasomy 9P |
|
Absent gallbladder, Sacral dimple, Short neck, Missing ribs, Cryptorchidism, Oligozoospermia, Inf... |
ORPHA:3310 |
| Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Epileptic spasm, Speech apraxia, Bilateral tonic-clonic se... |
ORPHA:314655 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Ataxia, Splenomegaly, Abnormal pulm... |
ORPHA:77261 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Meckel Syndrome |
|
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... |
ORPHA:564 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Seizure, Secondary microcephaly, Myoclonus, Aspiration pneumonia, Dystonia,... |
OMIM:619167 |
| Chops Syndrome |
|
Microcephaly, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumon... |
OMIM:616368 |
| Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6 concentration... |
ORPHA:544482 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Hypertonia, Thoracic kyphosis, Aspiration pn... |
OMIM:602535 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Aspiration pneumonia, Hypothyroidism, Hypoventilation, Absent septum pellucidum, Cryptorch... |
ORPHA:438213 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia |
ORPHA:2162 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Cerebellar hemangioblastoma, Papillary cystadenoma of... |
OMIM:193300 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Normochromic anemia, Cholecy... |
OMIM:611881 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Ataxia, Microcephaly, Simplified gyral pattern, Decreased circul... |
OMIM:617062 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Speech apraxia, Broad-based gait, Hypospadias, Short stature, Kyphoscoliosis, S... |
ORPHA:2044 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Ep... |
ORPHA:340 |
| Wilson Disease |
|
Hepatocellular carcinoma, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, ... |
OMIM:277900 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Edema |
ORPHA:2505 |
| Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Abnormalit... |
ORPHA:84064 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... |
ORPHA:935 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Short stature, Ataxia, Phimosis, Cryptorchidis... |
OMIM:305000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Cryptorchidism, Glandul... |
OMIM:136140 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Apnea, Clonus, Tremor, Jaundice, Cerebral atrophy, Hypopnea, Seizure, Respiratory failu... |
OMIM:617248 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... |
ORPHA:97287 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Seizure, Interstitial pneumonitis, Granulocytopenia, Lympho... |
ORPHA:454831 |
| Roifman-Chitayat Syndrome |
|
Generalized myoclonic seizure, Arthritis, Pneumonia, Short neck |
OMIM:613328 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Bilateral cryptorchidism, Pneumothorax, Seizure, Gliosis, Hypoplasia of the corpu... |
OMIM:617403 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Osteoarthritis, Abnormal form of the vertebral bodies, Hyperhidrosis, Loss of ... |
ORPHA:666 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Gaucher Disease |
|
Tremor, Osteoarthritis, Hepatomegaly, Ataxia, Hemiplegia/hemiparesis, Hepatitis, Respiratory insu... |
ORPHA:355 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Decreased response to growth hormone stimulation test, Tremor, Cryptorchidism, Hyp... |
ORPHA:506358 |
| Crimean-Congo Hemorrhagic Fever |
|
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... |
ORPHA:99827 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Anhidrosis, Ataxia, Microcephaly, Tremor, Splenomegaly, Basal g... |
OMIM:216400 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... |
OMIM:137920 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Ataxia, Anterior pituitary hypoplasia, Kyphoscoliosis, Supernumerary nipple, Bila... |
ORPHA:466791 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Kyphoscoliosis, Recurrent pneumonia, Decreased circulating antibody level, ... |
ORPHA:93357 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Short neck, Microcephaly, Cryptorchidism, Seizure, Hypertonia, Short sternum, Supernum... |
OMIM:122470 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... |
ORPHA:171 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Tremor, Anemia, Seizure, Neutropenia, Thrombocy... |
OMIM:251100 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Increased circulating IgG ... |
ORPHA:449395 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Compleme... |
ORPHA:470 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Degcags Syndrome |
|
Hepatomegaly, Sacral dimple, Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplasti... |
OMIM:619488 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Cockayne Syndrome B |
|
Hepatomegaly, Anhidrosis, Ataxia, Cerebellar calcifications, Microcephaly, Tremor, Splenomegaly, ... |
OMIM:133540 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria, Short neck |
ORPHA:2328 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Seizure, Pulmonary arterial hypertension, Hypothyroidism |
OMIM:601005 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Miller-Dieker Lissencephaly Syndrome |
|
Epileptic spasm, Sacral dimple, Infantile spasms, Microcephaly, Midline brain calcifications, Cry... |
OMIM:247200 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Neural tube defect, Umbilical hern... |
ORPHA:798 |
| Doors Syndrome |
|
Respiratory distress, 11 pairs of ribs, Small cerebellar cortex, Adrenal hyperplasia, Bilateral t... |
ORPHA:79500 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of the corpus c... |
OMIM:618569 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
| Wolfram Syndrome 2 |
|
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
| Yellow Fever |
|
Low back pain, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 c... |
ORPHA:99829 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Polyhydramnios |
OMIM:616920 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Chiari type I malformation, Abnormal... |
ORPHA:261537 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Pain insensitivity, Abscess, Somatic sensory dysfunction, I... |
ORPHA:642 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Recurrent pneumonia, Agenesis of c... |
OMIM:300472 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolyt... |
OMIM:274150 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration |
OMIM:615561 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
| Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Ab... |
ORPHA:330021 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... |
OMIM:168600 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Dubowitz Syndrome |
|
Sacral dimple, Aplastic anemia, Eczema, Microcephaly, Cryptorchidism, Acute lymphoblastic leukemi... |
OMIM:223370 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
| Coffin-Siris Syndrome |
|
Microcephaly, Cryptorchidism, Recurrent upper respiratory tract infections, Simplified gyral patt... |
ORPHA:1465 |
| Myhre Syndrome |
|
Vertebral fusion, Ataxia, Short neck, Microcephaly, Cryptorchidism, Respiratory insufficiency, Se... |
OMIM:139210 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616395 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Seizure, Ti... |
ORPHA:512 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Semilobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93924 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Short neck, Tremor, Partial absence of cerebellar vermis, Hydrocele testis, S... |
ORPHA:280633 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251230 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Hemivert... |
OMIM:151050 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Charge Syndrome |
|
Microphthalmia, Anophthalmia, Polyhydramnios, Intrauterine growth retardation |
ORPHA:138 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation, Edema, Oligohydramnios |
OMIM:617729 |
| Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Hypohidrosis, Bradykinesia, Ne... |
OMIM:146500 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Exertional dyspnea, Hypertonia, Cirrhosi... |
OMIM:616539 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios |
ORPHA:3301 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Leukocytosis, Ch... |
ORPHA:94093 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... |
ORPHA:562639 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Mosaic Trisomy 9 |
|
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... |
ORPHA:99776 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Abnormal form of the vertebral bodies, Thin ribs, Hepatic hemangioma, Recurrent asp... |
ORPHA:73230 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Opitz Gbbb Syndrome |
|
Enlarged ovaries, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Cryptorchidism, Stri... |
ORPHA:2745 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Cerebral atrophy, Cerebellar atrophy, Aspiration pneumonia |
OMIM:616430 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Apnea, Tremor, Splenomegaly, Pulmonary artery ste... |
ORPHA:667 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal ... |
ORPHA:3385 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Agenesis of corpus callosum, Agenesi... |
ORPHA:2152 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:613451 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Chiari type I malformation, Abnormal... |
ORPHA:261552 |
| Meckel Syndrome 14 |
|
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios |
OMIM:619879 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Lymphocytosis, Cough, Elevated hepatic iron c... |
OMIM:619991 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Polyhydramnios, Edema |
OMIM:302960 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Ascites |
ORPHA:974 |
| Marden-Walker Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele |
OMIM:614424 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Fumarase Deficiency |
|
Mitochondrial swelling |
OMIM:606812 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia, Microcephaly |
ORPHA:1867 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Autoimmune thrombocytopenia, M... |
OMIM:147920 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Astrocytoma, Tremor, Chronic otitis media, Cavum septum pellucidum,... |
ORPHA:821 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos |
OMIM:610758 |
| Plague |
|
Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymph... |
ORPHA:707 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Epilepsy-Telangiectasia Syndrome |
|
Seizure, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Umbilical hernia |
OMIM:300166 |
| Micro Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He... |
ORPHA:247598 |
| Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Increased circulating an... |
ORPHA:2976 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Short stature, Splenomegaly, Hypohidrosis, Growth delay, Pri... |
OMIM:219800 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Jaundice, Hepatitis, Biliary cirrhosis, Gas... |
ORPHA:186 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
ORPHA:364577 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:251300 |
| Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
| Diets-Jongmans Syndrome |
|
Seizure, Gliosis, Thick corpus callosum, Cryptorchidism |
OMIM:618846 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Hypopnea, Seizure, Restrictive ventilatory defect, Scoliosis, A... |
OMIM:619482 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Pneumonia, Episodic tac... |
ORPHA:26793 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... |
OMIM:613070 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly |
OMIM:619148 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Microphthalmia |
OMIM:214800 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Cystocele, Decreased fertility, Abnormality of the menstrual cycle |
ORPHA:285 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Abnormal curvature of the ve... |
ORPHA:353281 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
| Trisomy 18 |
|
Spina bifida, Anencephaly, Oligohydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3380 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Pneumonia, Cryptorchidis... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Pneumonia, Cryptorchidis... |
ORPHA:353277 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Microphthalmia, Ascites, Intrauterine growth retar... |
ORPHA:1052 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrops fetalis |
ORPHA:268249 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| Fryns Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2059 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hypothyroidism, Asthma, Pulm... |
ORPHA:444077 |
| Cohen Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:193 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios |
ORPHA:2166 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation |
OMIM:113620 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Kyphoscoliosis, Hyperlordosis, Hypercapnia, Respiratory insuffi... |
ORPHA:2020 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Absent nipple, Microcephaly, Cryptorchidism, Pneumothorax, Respirat... |
OMIM:612289 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Cerebellar vermis hypoplasia, Ataxia, Abnormality of coordina... |
ORPHA:79318 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
| Trichothiodystrophy 1, Photosensitive |
|
Microcephaly, Asthma, Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level |
OMIM:601675 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
| Witteveen-Kolk Syndrome |
|
Unilateral cryptorchidism, Eczema, Decreased response to growth hormone stimulation test, Microce... |
OMIM:613406 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:250989 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Fraser Syndrome 2 |
|
Microphthalmia, Oligohydramnios |
OMIM:617666 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Viss Syndrome |
|
Chronic gastritis, Eczema, Microcephaly, Kyphosis, Asthma, Pneumothorax, Hypereosinophilia, Dyspn... |
OMIM:619472 |
| Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly |
OMIM:617809 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... |
OMIM:618183 |
| Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:234100 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia |
OMIM:616300 |
| Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia |
ORPHA:464 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:146510 |
| White-Kernohan Syndrome |
|
Recurrent otitis media, Dysplastic corpus callosum, Hypothyroidism |
OMIM:619426 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
| Roberts Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios |
ORPHA:3103 |
| Cystic Fibrosis |
|
Male infertility, Hepatosplenomegaly, Pancreatitis, Exocrine pancreatic insufficiency |
OMIM:219700 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... |
OMIM:256520 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios |
OMIM:608670 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
| Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
| Cholera |
|
Seizure, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| Fanconi Anemia |
|
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... |
ORPHA:84 |
| Distal Deletion 19P |
|
Seizure, Decreased circulating antibody level |
ORPHA:96129 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... |
OMIM:249000 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Microphthalmia |
ORPHA:534 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical hernia, Micropht... |
ORPHA:567 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Microphthalmia, Polyhydramnios, Intrauterine growth retardation |
OMIM:620186 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Fryns Syndrome |
|
Microphthalmia, Chylothorax, Polyhydramnios |
OMIM:229850 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616975 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:263650 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Monosomy 13Q14 |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Microph... |
ORPHA:3472 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Aicardi Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:304050 |
| Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Absent nipple, Anterior concavity of thoracic vertebrae, Microcepha... |
OMIM:216340 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
| Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
| Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
| Hydrolethalus Syndrome 1 |
|
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation |
OMIM:236680 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
| Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine growth retardation... |
ORPHA:508488 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Umbilical hernia, Oligohydramnios |
ORPHA:672 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
| Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
| Roberts-Sc Phocomelia Syndrome |
|
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation, Polyhydramnios |
OMIM:268300 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
| Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
