| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
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 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
| Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Cerebellar atrophy, Reduced sperm motility, Difficulty walking, Decreased testi... |
ORPHA:320391 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... |
OMIM:301082 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
| Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... |
OMIM:607594 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163976 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... |
OMIM:607271 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgG level, Cerebellar atrophy, Seizure, Decreased circulating IgA level, At... |
OMIM:300861 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Pseudobulbar paralysis, Decreased serum testosterone concentration, Abnormal cerebellum morpholog... |
ORPHA:101006 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| 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 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Seizure, Tremor, Cerebellar hypoplasia, Ataxia, Scoliosis |
OMIM:213000 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... |
OMIM:618459 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Seizure, Neurodegeneration, Lymphopenia, Leukopenia, Splenomegal... |
OMIM:620210 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163971 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Cerebellar atrophy, Recurrent respirat... |
ORPHA:2585 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Scoliosis, Ataxia |
ORPHA:2802 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:261534 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Intrauterine... |
OMIM:300869 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
| Microlissencephaly |
|
Pneumonia, Cerebral cortical atrophy, Lissencephaly, Cerebellar atrophy, Polymicrogyria, Neuronal... |
ORPHA:1083 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... |
OMIM:607136 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral... |
OMIM:618973 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis |
OMIM:607080 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... |
OMIM:619752 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... |
ORPHA:599373 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... |
ORPHA:436159 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... |
OMIM:102700 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:613953 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... |
OMIM:618394 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Gordon Holmes Syndrome |
|
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... |
OMIM:212840 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Broad-based gait, Insulin-resistant diabetes mellitus, Microcytic anem... |
ORPHA:2959 |
| Developmental And Epileptic Encephalopathy 14 |
|
Cerebral cortical atrophy, Spasticity, Focal autonomic seizure, Hypoplasia of the corpus callosum... |
OMIM:614959 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| 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 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus... |
OMIM:619302 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po... |
OMIM:618276 |
| Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Seizure, Polymicrogyria, Epileptic spasm, Hemimegalencephaly, Myoclonus... |
ORPHA:99802 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ata... |
ORPHA:79243 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Aarskog-Scott Syndrome |
|
Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin... |
OMIM:305400 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Mannosidosis, Alpha B, Lysosomal |
|
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, G... |
OMIM:248500 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Myo... |
OMIM:225753 |
| Huntington Disease |
|
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... |
OMIM:143100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... |
OMIM:614069 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Tip-toe gait, Difficulty walking, Decreased ser... |
OMIM:609195 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections |
OMIM:610798 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Sneddon Syndrome |
|
Seizure, Lymphopenia, Hemiplegia, Ischemic stroke, Tremor, Impaired distal tactile sensation, Dec... |
OMIM:182410 |
| Perrault Syndrome 5 |
|
Primary amenorrhea, Elevated circulating creatine kinase concentration, Hypergonadotropic hypogon... |
OMIM:616138 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... |
OMIM:618433 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Microcephaly, Neutropenia, Abnormal rib morphology, Decreased ci... |
ORPHA:2643 |
| Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Chudley-Mccullough Syndrome |
|
Seizure, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dysplastic corp... |
OMIM:604213 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Edema, Microphthalmia |
OMIM:616570 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia |
ORPHA:276183 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Broad-based gait, Crohn's disease, Agammaglobulinemia, Absent ci... |
OMIM:619705 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Leukoencephalopathy, Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunctio... |
OMIM:221820 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Focal impaired awa... |
ORPHA:330050 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Spastic tetraplegia, Myoclonic seizure, Hypoplasia of the pons, Infantile spasms, Focal-onset sei... |
OMIM:619301 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Hemiplegia/hemiparesis, Spastic ataxia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, A... |
ORPHA:2572 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic seizure, Cerebellar atrophy, Cerebral hypoplasia, Seizure, Abnormal astrocy... |
ORPHA:168486 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility, Elevated circulat... |
OMIM:619518 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... |
ORPHA:157941 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... |
OMIM:610185 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... |
OMIM:615401 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility |
OMIM:613909 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... |
OMIM:618369 |
| Immunodeficiency 104 |
|
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... |
OMIM:608971 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Typical absence seizure, Limb myoclonus, Seizure, Difficulty walk... |
ORPHA:2590 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:146110 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Se... |
OMIM:256731 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... |
OMIM:201100 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... |
OMIM:614946 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... |
OMIM:607317 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... |
ORPHA:90796 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Cerebellar atrophy, Cerebral atrophy, Seizure... |
OMIM:620603 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... |
ORPHA:521406 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... |
OMIM:243700 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Aspiration pneumonia, Neuronal loss in the cerebral cortex, Ataxia, Hepatomegaly, Bab... |
OMIM:301072 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Impaired vibration sensati... |
OMIM:159550 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, In... |
ORPHA:508533 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Seizure, Subcortical white matter calcifications, Diffuse cerebral atrophy, Ce... |
ORPHA:3240 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Generalized myoclonic seizure, Decreased circulating total IgG... |
ORPHA:221139 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Recurr... |
ORPHA:397596 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ... |
OMIM:300988 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... |
OMIM:400044 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Seizure, Gait disturbance, Ataxia, Decreased circulating antibody level, Scol... |
ORPHA:85317 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG, Recurrent ... |
OMIM:613495 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Seizure, Tetraparesis, Generalized-onset seizure, Polymicrogyria, I... |
OMIM:610031 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Seizure, Inability to walk... |
OMIM:620317 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... |
ORPHA:465508 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... |
OMIM:300755 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... |
OMIM:619220 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Recurrent pneumonia, Cerebellar atrophy, Seizure, Neurodegeneration, Basal ganglia calcification,... |
OMIM:214150 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocytosis, Myoclonus, A... |
ORPHA:204 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebe... |
ORPHA:457240 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukoencephalopathy, Spasticity, Seizure, Hemiplegia, Cerebral calcification, Tremor, Abnormality... |
OMIM:614561 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormali... |
OMIM:615362 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Microcephaly, Absence of lymph node ge... |
OMIM:235550 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis ... |
OMIM:615095 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| 47,Xyy Syndrome |
|
Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Cryptorchidis... |
ORPHA:8 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Gestational Choriocarcinoma |
|
Metrorrhagia |
ORPHA:99926 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Seizure, Abnorma... |
OMIM:221770 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Cryptorchidism... |
OMIM:300957 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| L-2-Hydroxyglutaric Aciduria |
|
Leukoencephalopathy, Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyram... |
OMIM:236792 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Short neck, Clonus, Ataxia, Hepatomegaly, Choreoathetosis, Chorea, Dystonia, ... |
OMIM:615673 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Seizure, Hypoplasia of the corpus callosum, Babinski sign, Mi... |
OMIM:612936 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cerebral cortical atrophy, Cryptorchidism, Tremor, Photosensitive myoclonic seizure, Gait disturb... |
ORPHA:1192 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Seizure, Inability to walk, Epileptic spasm... |
OMIM:617193 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin |
OMIM:614962 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Kyphosis, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrop... |
OMIM:617435 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... |
OMIM:614878 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion |
OMIM:613885 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Impaired pain sensation, Cerebellar verm... |
OMIM:616719 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Short neck, Thrombocytopenia, Anemia,... |
ORPHA:3319 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Atrophy/Degenerat... |
OMIM:619971 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Seizure, Hepatosplenomegaly, Decreased circulating IgA level, De... |
ORPHA:79330 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... |
OMIM:618986 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Neuro... |
ORPHA:275872 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Difficulty walking, Lymphopenia, Decreased circulating IgA level... |
OMIM:612782 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Inflammatory abnor... |
ORPHA:277 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Roifman Syndrome |
|
Recurrent pneumonia, Biconvex vertebral bodies, Eczematoid dermatitis, Hippocampal atrophy, Recur... |
ORPHA:353298 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Seizure, Hypersplenism, Bilateral tonic-clonic seizure with focal ... |
OMIM:610539 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:615758 |
| Aicardi-Goutieres Syndrome 6 |
|
Cerebral calcification, Splenomegaly, Tremor, Rigidity, Loss of ambulation, Chilblains, Microceph... |
OMIM:615010 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
| Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, Seizure, Reticulocytosis, Tremor, Splenomegaly, Ataxia, Dystonia, Hemolytic ane... |
OMIM:612126 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618117 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... |
OMIM:619773 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Bilateral ton... |
OMIM:616540 |
| Immunodeficiency 27A |
|
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... |
OMIM:209950 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Neuroectodermal Melanolysosomal Disease |
|
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral... |
ORPHA:33445 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Seizure, Action tremor, Hypoplasia of th... |
OMIM:300423 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Rosaï-Dorfman Disease |
|
Seizure, Paraplegia, Paresthesia, Dysgammaglobulinemia, Lymphadenopathy, Anemia |
ORPHA:158014 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| 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 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Chorea, Abnormal periventricular whit... |
OMIM:277470 |
| Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Spasticity, Generalized myoclonic seizure, Abnormal cortical gyrati... |
ORPHA:2524 |
| Lead Poisoning |
|
Somatic sensory dysfunction, Imbalanced hemoglobin synthesis, Decreased male libido, Abnormality ... |
ORPHA:330015 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... |
ORPHA:90362 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Seizure, Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis ... |
ORPHA:89844 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... |
OMIM:615957 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia |
OMIM:616187 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Ataxia-Telangiectasia |
|
Spasticity, Aplasia/Hypoplasia of the thymus, Seizure, Lymphopenia, Tremor, Polycystic ovaries, G... |
ORPHA:100 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pancytopenia... |
ORPHA:562 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
| Immunodeficiency 32B |
|
Pneumonia, Cerebral calcification, Impaired oxidative burst, Abnormal circulating IgG level, Sple... |
OMIM:226990 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased response to growth hormone stimul... |
OMIM:615577 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... |
OMIM:617241 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... |
OMIM:109150 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Leigh Syndrome |
|
Spasticity, Neuronal loss in basal ganglia, Hypoplasia of the corpus callosum, Agenesis of corpus... |
ORPHA:506 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Microcephaly, Thrombocytopenia, B lymphocytope... |
ORPHA:169079 |
| Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... |
OMIM:300200 |
| Kennedy Disease |
|
Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy... |
ORPHA:481 |
| Meningioma |
|
Increased circulating prolactin concentration, Hemifacial spasm, Difficulty walking, Hemiparesis,... |
ORPHA:2495 |
| Tay-Sachs Disease |
|
Aspiration pneumonia, Incoordination, Poor fine motor coordination, Global brain atrophy, Inabili... |
ORPHA:845 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Microcephaly, Progre... |
OMIM:614498 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly... |
OMIM:620632 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... |
ORPHA:79262 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma... |
ORPHA:2578 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Abnormal pyramidal sign, Abnorm... |
OMIM:256600 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:300068 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... |
ORPHA:3085 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... |
OMIM:105550 |
| Classic Galactosemia |
|
Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Cryptorchidism, P... |
ORPHA:79239 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Clonus, Poikilo... |
OMIM:301310 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... |
ORPHA:95619 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... |
ORPHA:93952 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren... |
OMIM:208900 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Cerebral cortical atrophy, Bronchiolitis, Periodonti... |
OMIM:266265 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Generalized dystonia, Neurodegeneration, Seizure, Chorea, Pancytopenia, Gait at... |
OMIM:618321 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... |
OMIM:601457 |
| Ring Chromosome 21 Syndrome |
|
Spasticity, Thoracic hemivertebrae, Azoospermia, Amenorrhea, Gait disturbance, Fused thoracic ver... |
ORPHA:1445 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... |
OMIM:613162 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Seizure, Hypersegmentation of neutrophil nuclei, Lymp... |
OMIM:617780 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ... |
OMIM:313200 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Placental Site Trophoblastic Tumor |
|
Amenorrhea, Metrorrhagia |
ORPHA:99928 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... |
ORPHA:79263 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Seizure, Abnormal circulating IgM level, Neutrophilic inf... |
OMIM:618048 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory... |
OMIM:613179 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Elevated creatine kinase after exercise |
ORPHA:352470 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Scoliosis, Somatic sensory dysfunction, Eczematoid dermatitis, Chronic mucocut... |
OMIM:615816 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Seizure, Tremor, Short neck, Abnormal cerebral white matter morphology, Ataxia |
OMIM:618951 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... |
ORPHA:909 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Lateral ventricle dilatation, Decreased cir... |
OMIM:612301 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... |
ORPHA:98762 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Skin rash, Anemia... |
ORPHA:33355 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media, Skin r... |
ORPHA:229717 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Short neck, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypergona... |
ORPHA:2183 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Secondary microcephaly, Action tremor, Lingual dystonia, Hepatomegaly, Cerebral atrophy, Generali... |
ORPHA:404454 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Seizure, Periventricular leukomalacia, Microcephaly, Gliosis, Scoliosis |
ORPHA:357225 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... |
OMIM:604484 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Hypoplasia of the corpus callosum, Ag... |
OMIM:616239 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Microcephaly, Thrombocytopenia, A... |
OMIM:618116 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... |
OMIM:614018 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... |
ORPHA:90795 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Paraplegia, Pancytopenia, Pulmonary h... |
ORPHA:79124 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Seizure, Generalized-onset seizure, Secondary microcephaly, Periven... |
OMIM:619737 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Abnormal form of the vertebral bodies, Hypogonadism, Decreased testicular size, Ab... |
ORPHA:2234 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Recurren... |
OMIM:159950 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... |
ORPHA:500166 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... |
ORPHA:572 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... |
OMIM:615767 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:610628 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Head tremor, Azoospermia, Torticollis, Intention tremor, Hypergonad... |
OMIM:613724 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia, Hypoplasia of the corpus callosum, Opisthotonus, Progressive spastic quadri... |
ORPHA:95232 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... |
OMIM:604218 |
| Frasier Syndrome |
|
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Seizure, Febrile seiz... |
OMIM:619847 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... |
OMIM:300972 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
| Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal form of the vertebral bodies, Splenomegaly |
ORPHA:1802 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Cerebral calcif... |
ORPHA:101110 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... |
OMIM:268020 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Poor hand-eye coordination, Bron... |
ORPHA:420741 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bilateral basal ganglia lesions, Hepatic steatosis, Microcephaly, Lower limb spasticity, Gliosis |
OMIM:615119 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Short neck, Hypothyroidism, Lymphaden... |
OMIM:619750 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Striatal T2 hyperintensity, Seizure, Decreased response to growth hormone sti... |
ORPHA:289494 |
| Aspergillosis |
|
Pneumonia, Keratitis, Abnormality of the vertebral column, Seizure, Hepatitis, Increased circulat... |
ORPHA:1163 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Short neck, Ambiguous genitalia, Short stature, Primary gonadal insufficiency, Scoli... |
ORPHA:261519 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Spasticity, Dysgenesis of the basal ganglia, Polymicrogyria, Dilate... |
ORPHA:171680 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Secondary microcephaly, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-... |
OMIM:617013 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... |
OMIM:312080 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Corpus callosu... |
OMIM:169500 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... |
OMIM:618282 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Abnormal basal ganglia morphology, Hemiparesis, Bilateral tonic-clonic seizure with... |
ORPHA:1929 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Bronchiectasis, Cerebellar atrophy, Kyphosis, Seizure, Hypop... |
OMIM:619708 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... |
ORPHA:217390 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... |
OMIM:620184 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Cerebellar vermis hypoplasia, Abnormal natural killer cell morphology, Seizure, Recurrent aphthou... |
OMIM:615966 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... |
OMIM:617810 |
| X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Abnormality of the Leydig cells, Inability to walk, Myoclonus, Cryptorchid... |
ORPHA:3063 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Basal ganglia calcification, Myoclonus, Gait ataxia, Dysmetria, Distal sensor... |
OMIM:616505 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Seizure, H... |
ORPHA:300573 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis... |
OMIM:616740 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... |
OMIM:614831 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Seizure, Incoordination, Cryptorchidism, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, ... |
OMIM:618060 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, A... |
OMIM:301000 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, An... |
OMIM:620546 |
| Cowden Syndrome 1 |
|
Dysplastic gangliocytoma of the cerebellum, Kyphosis, Seizure, Goiter, Lymphopenia, Hemimegalence... |
OMIM:158350 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Cerebral atrophy, Tetraparesis, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, ... |
OMIM:615924 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Seizure, Simplified gyral pattern |
OMIM:618328 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... |
OMIM:193670 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... |
ORPHA:37748 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Gliosis, Seizure, Hemiparesis |
OMIM:613002 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Mevalonic Aciduria |
|
Cerebellar atrophy, Fluctuating splenomegaly, Cerebral atrophy, Agenesis of cerebellar vermis, Mo... |
OMIM:610377 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Cerebellar dentate nucleus calcification, Seizure, Basal ganglia calcification, Chorea, Limb dysm... |
OMIM:213600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Neuronal loss in basal ganglia, Cerebellar atrophy, Focal cortical dysplasia, Cerebral atrophy, L... |
OMIM:604377 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Recurrent sinopulmonary infections, Decreased circulating IgA level |
OMIM:609529 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... |
OMIM:619381 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... |
OMIM:606367 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
| Rigid Spine Syndrome |
|
Pneumonia, Hyperlordosis, Waddling gait, Scoliosis, Spinal rigidity |
ORPHA:97244 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Tongue fasciculations, Seizure, Cerebral atrophy, Microcephaly, Hypothyroidism, B lymphocytopenia... |
OMIM:619851 |
| Immunodeficiency 37 |
|
Seizure, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious ence... |
OMIM:616098 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Leigh Syndrome, Nuclear |
|
Spasticity, Seizure, Hepatocellular necrosis, Focal substantia nigra T2 hyperintensity, Gliosis, ... |
OMIM:256000 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Seizure, Cerebral atrophy, Small basal ganglia, Abnormal periventri... |
OMIM:616900 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Leukoencephalopathy, Spasticity, Cessation of head growth, Seizure, Gait disturbance, Gliosis, Un... |
OMIM:603896 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... |
OMIM:611302 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... |
OMIM:615234 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... |
OMIM:616421 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis |
OMIM:300857 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... |
ORPHA:3044 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tetraparesis, Neuronal loss in central nervous system, Ataxia, Hepatomegaly, Jaundice, Bile duct ... |
OMIM:203700 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Cerebral atrophy, Seizure, Tremor, Cerebellar hypoplasia, Posterior atrophy of corpus callosum, L... |
OMIM:619422 |
| Aicardi-Goutieres Syndrome 7 |
|
Tetraparesis, Basal ganglia calcification, Pancytopenia, Hepatic steatosis, Chilblains, Increased... |
OMIM:615846 |
| Mirage Syndrome |
|
Seizure, Aspiration pneumonia, Lymphopenia, Paraplegia, Leukopenia, Decreased testicular size, Cr... |
OMIM:617053 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Spasticity, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Cerebral calcification, In... |
OMIM:607944 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
OMIM:604367 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum... |
ORPHA:453521 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cerebellar vermis hypoplasia, Broad-based gait, Hypoplasia of the pons, Decreased serum testoster... |
ORPHA:495875 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Seizure, Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the corpus... |
ORPHA:85179 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus cal... |
ORPHA:137898 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Focal T2 hypointense basal ganglia lesion, Abnorm... |
ORPHA:139485 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Hypoplasia of the co... |
OMIM:617916 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Microceph... |
OMIM:616910 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Leukoencephalopathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremo... |
OMIM:618387 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Chiari malformatio... |
ORPHA:95699 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Spasticity, Seizure, Inability to walk, Generalized-onset seizure, ... |
ORPHA:357058 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:607143 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Bone Marrow Failure Syndrome 5 |
|
Growth delay, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Short stature, T... |
OMIM:618165 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
| Robinow Syndrome |
|
Webbed penis, Small scrotum, Decreased serum testosterone concentration, External genital hypopla... |
ORPHA:97360 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatiti... |
ORPHA:435651 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... |
ORPHA:98763 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypog... |
OMIM:308750 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... |
OMIM:235200 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Abnormal cerebral ... |
OMIM:618587 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Basal ganglia calcificat... |
OMIM:620371 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Impotence, Amenorrhea |
OMIM:604250 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Leukoencephalopathy, Spasticity, Cerebellar dentate nucleus calcification, Seizure, Intracerebral... |
ORPHA:542310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Spasticity, Bronchiectasis, Reduced cerebral white matter volume, Seizure, Aspiration pneumonia, ... |
OMIM:618253 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Leukoencephalopathy, Cerebellar atrophy, Cerebral atrophy, Seizure, Tremor, Dysmetria, Diffuse ce... |
OMIM:617710 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Microcephaly, Dystonia, Spastic te... |
OMIM:252650 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... |
ORPHA:3095 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... |
ORPHA:911 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... |
OMIM:615122 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Abnormal corpus callosum morphology, Polymicrogyria, Aspiration pneumonia, Progressive microcepha... |
OMIM:609528 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Spasticity, Hepatitis, Seizure, Leukopenia, Splenomegaly, Lymphadeno... |
ORPHA:381 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... |
OMIM:620005 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Lower limb spasticit... |
ORPHA:280210 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Seizure, Decreased testicular size, Agenesis of corpus callosum, Gliosis, Pachygyria,... |
OMIM:300215 |
| Wolfram Syndrome 1 |
|
Growth delay, Sideroblastic anemia, Tremor, Hypothyroidism, Megaloblastic anemia, Thrombocytopeni... |
OMIM:222300 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Stillbirth, Prominent ... |
OMIM:152800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... |
OMIM:615285 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... |
ORPHA:100024 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Hepatosplenomegaly, Pancytopenia, Clums... |
ORPHA:309288 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Cerebellar cyst, Azoospermia, Abnormal rib morphology, Short... |
OMIM:601076 |
| Bloom Syndrome |
|
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Bronchitis, Decreas... |
ORPHA:125 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Myoclonic seizure, Seizure, Status epilepticus, F... |
OMIM:618067 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticollis, Unsteady gait, Erratic ... |
ORPHA:397946 |
| Sialidosis Type 2 |
|
Seizure, Splenomegaly, Tremor, Ataxia, Hepatomegaly, Kyphosis |
ORPHA:87876 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera... |
OMIM:618093 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... |
ORPHA:540 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... |
OMIM:617006 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... |
OMIM:612016 |
| Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
| Hydrolethalus |
|
Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| D-Bifunctional Protein Deficiency |
|
Cerebral hypoplasia, Cerebellar atrophy, Seizure, Polymicrogyria, Cholestasis, Primary adrenal in... |
OMIM:261515 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Seizure, Aspiration pneumonia, Foc... |
ORPHA:79264 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... |
OMIM:619028 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:3469 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Thoracolumbar kyphosis, Seizure, Lymphopenia, Hepatic cysts, Kyphoscoliosis, Eosin... |
OMIM:617425 |
| Trisomy 13 |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy... |
ORPHA:3378 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Pneumonia, Spasticity, Granuloma, Hepatitis, Seizure, Decreased response to growth... |
ORPHA:1855 |
| Gapo Syndrome |
|
Abnormal form of the vertebral bodies, Hypogonadism, Dysmenorrhea, Amenorrhea, Oligozoospermia, S... |
ORPHA:2067 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Seizure, Conjunctivitis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy... |
OMIM:603552 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Ce... |
ORPHA:306669 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic steatosis, Ataxia, Hepatomegaly, Cerebellar vermis hypoplasia, Generalized-onset seizure,... |
OMIM:212065 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Hepatosplenomegaly, Oligozoospermia, Abnormal testis morphology, Anemia, Primary te... |
ORPHA:85450 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Gm1 Gangliosidosis |
|
Spasticity, Aspiration pneumonia, Hepatosplenomegaly, Bilateral tonic-clonic seizure with general... |
ORPHA:354 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice, Epididym... |
OMIM:620376 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia |
OMIM:218670 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Recurrent respiratory infections, In... |
OMIM:617303 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... |
OMIM:202110 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Seizure, Tetraplegia, Hypertonia, Gliosis, Cerebral edema, Spastic tetraplegia |
OMIM:608033 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... |
ORPHA:169154 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Seizure, Tremor, Rigidity, Dystonia, P... |
ORPHA:329284 |
| 8P11.2 Deletion Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Growth delay, Hypogonadism, Azoospermia, Splenome... |
ORPHA:251066 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seiz... |
ORPHA:51636 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Cholelithiasis, Pulmonary hypoplasia, Pancreatic hypoplasia, Eczematoid dermatitis, Cr... |
ORPHA:83617 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:244200 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:101075 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... |
OMIM:615952 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ata... |
OMIM:620451 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Seizure, Myoclonus, Dysmetria... |
OMIM:250620 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Cerebral atrophy, Seizure, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochr... |
OMIM:616084 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Panhypogammaglobulinemia, Pancytopenia, Ataxia, Hepatomegaly, Progressive spasticity |
ORPHA:251009 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... |
OMIM:615400 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Seizure, Aspiration pneumonia, H... |
ORPHA:431361 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Focal-onset seizur... |
OMIM:619092 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
| Japanese Encephalitis |
|
Increased circulating antibody level, Pulmonary edema, Opisthotonus, Neutrophilia, Paucity of ant... |
ORPHA:79139 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, Skin ras... |
ORPHA:47 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males, Progressive spastic paraplegia |
ORPHA:2826 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Spasticity, Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, ... |
OMIM:614833 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Abnormal central motor function, Hypogonadism, Pan... |
ORPHA:91351 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Falls, Inability to walk, Decreased response to growth hormone... |
ORPHA:273 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... |
OMIM:618187 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... |
OMIM:302800 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Bilateral ... |
OMIM:617836 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Global brain atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Abnormal lung ... |
ORPHA:369837 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, T... |
OMIM:242900 |
| Sialidosis Type 1 |
|
Abnormal form of the vertebral bodies, Seizure, Myoclonus, Splenomegaly, Tremor, Gait disturbance... |
ORPHA:812 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Pancreatit... |
ORPHA:79083 |
| Behr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Periventricular leukomalacia, Dysmetria, Tremor, B... |
OMIM:210000 |
| Cockayne Syndrome |
|
Spasticity, Difficulty walking, Basal ganglia calcification, Cerebral calcification, Action tremo... |
ORPHA:191 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Seizure, Polymicrogyria, Cerebellar vermis atrophy, Decreased testicular size, Gait ataxia, Crypt... |
OMIM:300354 |
| Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:502430 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,... |
ORPHA:95496 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Seizure, Decreased proportion of CD4-positive T cells, Progressive microcephaly, Thin corpus call... |
ORPHA:477814 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Abnormal periventricular ... |
OMIM:615838 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Abnormal cortical gyration, Cerebellar atrophy, Decreased sp... |
OMIM:614576 |
| Myotonic Dystrophy 2 |
|
Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine kinase concentration, Elev... |
OMIM:602668 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... |
OMIM:301045 |
| Alg12-Cdg |
|
Recurrent pneumonia, Seizure, Cavum septum pellucidum, Abnormal circulating IgM level, Complete o... |
ORPHA:79324 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... |
ORPHA:391411 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Prolo... |
OMIM:227645 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Aspiration pneumonia, Aplasia/Hypoplasia of the corpus callosum, Action... |
ORPHA:99027 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, T... |
OMIM:607694 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Tremor, Kyphosc... |
OMIM:300055 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Recurrent pneumonia, Cerebellar atrophy, Cerebral atrophy, Seizure, Leukopenia, Myocl... |
OMIM:616271 |
| Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
| Spinocerebellar Ataxia Type 42 |
|
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... |
ORPHA:458803 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Hepatosplenomegaly, Azoospermia, Adrenal insufficiency, Reticulocytopenia, Dysplast... |
ORPHA:300298 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:101078 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... |
OMIM:617145 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hypoplasia of the corpus callosum, Decreased mean corpuscular volume, Tetrapl... |
OMIM:618278 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Cerebellar hypoplasia, Microcephaly, Colitis, Decreased ... |
OMIM:615190 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Hypoplas... |
ORPHA:646 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Spasticity, Cerebellar atrophy, Seizure, Aspiration pneumonia, Eye of the tiger anomaly o... |
ORPHA:35069 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Hyperg... |
OMIM:227650 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... |
OMIM:242860 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia |
ORPHA:1528 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Kyphosis, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, Appendicul... |
OMIM:617988 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Growth delay, Hypoplastic sacrum, Breast hypoplasia, Oligozoospermia, Diabetes mellit... |
OMIM:614813 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Secondary microcephaly, Abnorma... |
OMIM:619835 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Kyphosis, Generalized dystonia, Inability to walk, Tremor, Bab... |
OMIM:128100 |
| Omenn Syndrome |
|
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... |
ORPHA:39041 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Seizure, Tetraparesis, Leukopenia, Macrocytic anemia, Hepatomegaly, Paraparesis, Pancreatitis, Th... |
ORPHA:27 |
| Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Abnormality of the liver, Decreased circulatin... |
ORPHA:1572 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... |
OMIM:300511 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Recurrent respiratory infections, Pancytopenia, Decreased circulating IgA level, Hyper... |
OMIM:613385 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Spasticity, Septic arthritis, Seizure, Secondary microcephaly, Osteomyelitis, Dysplastic corpus c... |
OMIM:619423 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... |
OMIM:158330 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Lymphopenia, Hemiparesis, Focal hemiclonic seizure, Abnormal l... |
ORPHA:1830 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Seizure, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dystoni... |
ORPHA:79312 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Leukocytosis, Distal sens... |
ORPHA:206594 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
| Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... |
ORPHA:37202 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Seizure, Cerebral calcification, Leukocytosis, Cerebellar hypoplasia, Abnormal cer... |
OMIM:618886 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Decreased testicular size, Decreased circulating IgA level, Micr... |
OMIM:620040 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr... |
ORPHA:83471 |
| Even-Plus Syndrome |
|
Atopic dermatitis, Agenesis of corpus callosum, Dysplastic corpus callosum, Short neck, Vertebral... |
OMIM:616854 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Hemochromatosis, Type 2B |
|
Anemia, Secondary amenorrhea, Splenomegaly, Hypogonadism |
OMIM:613313 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Tremor, Kyphoscoliosis, Microcephaly,... |
OMIM:617664 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Intrauterine growth retardation, Cryptorchidism, Neonatal... |
OMIM:608104 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... |
ORPHA:1170 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Abnormal medulla oblongata morphology, Myelitis, Somatic sensory dysfuncti... |
ORPHA:297 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:210900 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Leukoencephalopathy, Decreased circulating IgA level, Recurrent skin infections, Tremor, Recurren... |
OMIM:617744 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Hepatic fibrosis, Involuntary movements, Myoclonic seizure, Seizure, Chorea, ... |
OMIM:615273 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere... |
ORPHA:529665 |
| Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... |
OMIM:603554 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Abnormal corpus striatum morp... |
ORPHA:48818 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Trichothiodystrophy |
|
Diffuse cerebellar atrophy, Spasticity, Cryptorchidism, Abnormal pyramidal sign, Neutropenia, Cer... |
ORPHA:33364 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent respiratory infections, Abnormal lymp... |
ORPHA:47612 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616171 |
| Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Global brain atrophy, Generalized dystonia, Aspiration pneumonia, Inability to wa... |
ORPHA:52368 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Abnormal caudate nucleus morphology, Tremor, Rigidity, Diffuse cerebr... |
ORPHA:314632 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Seizure, Abn... |
ORPHA:284 |
| Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
| Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Anophthalmia, Increased nuchal translucency |
ORPHA:261344 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati... |
OMIM:600955 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Hypoplasia of the corpus callosum, Ataxia |
OMIM:616494 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Pontocerebellar atroph... |
OMIM:606002 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Diffuse white matter abnormalities, Spasticity, T2 hypointense basal ganglia, Seiz... |
ORPHA:79255 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... |
ORPHA:282166 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Decreased testicular size, Postnatal growth retardation, Intraute... |
OMIM:610198 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia of the corpus callos... |
OMIM:300868 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Difficulty walking, Speech apraxia, Chorea, Inabil... |
OMIM:615356 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Seizure, Secondary microcephaly, Splenomegaly, Pontocerebellar atrophy, Tremor, Ataxia, Hepatomegaly |
OMIM:608799 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Microcephaly, Oculomotor apraxia, Atax... |
OMIM:612438 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Seizure, Myoclonus, Gait ata... |
ORPHA:363400 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Clitoral hypertrophy, Ambiguous genitalia |
ORPHA:543470 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Spasticity, Cholelithiasis, Kyphosis, Cerebral atrophy, Splenomegaly, Macrocyt... |
OMIM:615512 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... |
OMIM:600363 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonus, Appendicu... |
OMIM:617669 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatati... |
ORPHA:572798 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Symmetric lesions of the basal ganglia, Tremor, Rigidity, Gait dist... |
OMIM:609161 |
| Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Lateral ventricle dilatation, Basal ganglia calcification, Hepatosplenomegaly, Cerebr... |
OMIM:619487 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Lymphadenopathy, Thromb... |
ORPHA:83313 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Tremor, Abnormal immuno... |
ORPHA:3162 |
| Congenital Toxoplasmosis |
|
Ascites, Intrauterine growth retardation, Microphthalmia |
ORPHA:858 |
| Dermotrichic Syndrome |
|
Anemia, Hypohidrosis, Abnormal vertebral morphology, Seizure |
ORPHA:99688 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure |
OMIM:612437 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Chiari malformation, Annular pancreas, Seizure, Eczematoid dermatitis, Decreas... |
OMIM:618162 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Testicular atrophy, Growth delay |
OMIM:613987 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, ... |
ORPHA:77259 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... |
ORPHA:33110 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Seizure, Pancytopenia, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebra... |
OMIM:607426 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Seizure, Cerebral palsy, Appendicular spasticity, Dysplastic corpus... |
OMIM:620001 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Spasticity, Kyphosis, Seizure, Difficulty walking, Neuro... |
OMIM:618476 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Lewy bodies, Rigidity, Loss of a... |
OMIM:168601 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... |
OMIM:618963 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Decreased circul... |
OMIM:620321 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... |
ORPHA:293978 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Seizure, Pancytopenia, Cerebral calcification, Eosinophilia, Megaloblastic anemia, Thr... |
ORPHA:90045 |
| Xq28 (MECP2) duplication |
|
Seizure, Inability to walk, Decreased circulating IgA level, Gait ataxia, Hypoplasia of the corpu... |
DECIPHER:45 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ata... |
ORPHA:167 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... |
ORPHA:486 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Primary amenorrhea, Parkinsonism, Parkinsonis... |
OMIM:157640 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Dysplastic corpus callosum, Cryptorchidism |
OMIM:620135 |
| Lambert Syndrome |
|
Cholestasis, Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cerebellum, Jaundice, Decrea... |
ORPHA:1296 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... |
OMIM:183090 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Adducted Thumbs Syndrome |
|
Microcephaly, Myelin-dependent gliosis, Cerebral dysmyelination |
OMIM:201550 |
| Cofs Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1466 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Hoyeraal-Hreidarsson Syndrome |
|
Ataxia, Cerebral cortical atrophy, Bone marrow hypocellularity, Cerebral calcification, Abnormal ... |
ORPHA:3322 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Ce... |
OMIM:300514 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Spasticity, Hypoplasia of the pons, Seizure, Secondary microcephaly, E... |
ORPHA:500144 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Seizure, Hepatic periportal necrosis, Inability to walk, Hyperlordosis, Gliosis, Hepatomegaly, Ac... |
ORPHA:26791 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Leukopenia, Microcephaly, Thrombocytopenia, Anemia |
OMIM:615715 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... |
OMIM:618042 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| 4Q21 Microdeletion Syndrome |
|
Seizure, Tremor, Agenesis of corpus callosum, Cerebellar hypoplasia, Short neck, Scoliosis, Kyphosis |
ORPHA:238750 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Seizure, Rigidity, Abnormal putamen morphology, Gait disturbance, Gliosis, Hypertonia... |
ORPHA:88619 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Seizure, Neurodegeneration, Leukopenia, Giant neutrophil granule... |
OMIM:214500 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Microcephaly, Crani... |
OMIM:617284 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... |
OMIM:619738 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutro... |
OMIM:600901 |
| Listeriosis |
|
Arteritis, Abscess, Hemiparesis, Pustule, Ataxia, Jaundice, Endocarditis, Somatic sensory dysfunc... |
ORPHA:533 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... |
OMIM:102200 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio... |
OMIM:609053 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo... |
ORPHA:169105 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Seizure, Agenesis of corpus callosum, Hemiparesis, Unsteady gait, Scolios... |
OMIM:617542 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea |
ORPHA:2975 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Seizure, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expre... |
OMIM:304790 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:195 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Eye of the... |
OMIM:300894 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Kypho... |
ORPHA:79329 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Proportionate short stature, Hemiv... |
OMIM:620331 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Seizure, Decreased proportion of CD8-positive T cells, Abnormal astr... |
ORPHA:217260 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo... |
ORPHA:683 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Pancreatitis, Ovaria... |
ORPHA:370348 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... |
OMIM:601495 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Ataxia, ... |
OMIM:615688 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hypo... |
OMIM:619179 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Chiari type I malformation, Microcephaly, Anemia, Scoliosis |
OMIM:617244 |
| Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Seizure, Aplasia/Hypoplasia of the corpus callosum, Portal hyperten... |
ORPHA:1454 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Spasticity, Seizure, Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia, Hepatomeg... |
OMIM:618810 |
| Multiple Myeloma |
|
Paresthesia, Pleural effusion, Splenomegaly, Increased circulating IgA level, Lymphadenopathy, An... |
ORPHA:29073 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Aut... |
OMIM:243150 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Focal sensory seizure with somatose... |
ORPHA:247691 |
| Molybdenum Cofactor Deficiency, Type B |
|
Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum, Neonatal death, Diffuse cerebral at... |
OMIM:252160 |
| Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Basal ganglia calcification, Cerebra... |
OMIM:617281 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:618014 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Follicu... |
ORPHA:228123 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ... |
OMIM:307200 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Spasticity, Non-convulsive status epilepticus without coma, Lateral ventricle dilatation, Seizure... |
ORPHA:544488 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Polymicrogyria, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosu... |
ORPHA:250972 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis |
ORPHA:99014 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Reduced cerebral white matter volume, Seizu... |
OMIM:617237 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... |
OMIM:617106 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Aspiration pneumonia, Inability to walk, Limb fasciculations, Tremor... |
ORPHA:90117 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Seizure, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly, Abnormal cerebra... |
ORPHA:261652 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphopenia, Decreased circulatin... |
ORPHA:90363 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Seizure, Abnormality of the liver, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, ... |
OMIM:614307 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Seizure, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, ... |
ORPHA:447753 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Hepatosplenomegaly, Anemia, Back pain |
ORPHA:210110 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Dysplastic corpus callosum, Microcephaly, Hypertonia, Hepatomegaly |
OMIM:604273 |
| Pick Disease Of Brain |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:172700 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukoencephalopathy, Bone marrow hypocellularity, Spasticity, Seizure, Hemiplegia, Cerebral calci... |
OMIM:612199 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Speech apraxia, Lymphopenia, Decreased circulating antibody level, Spleno... |
OMIM:605309 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Fusariosis |
|
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia... |
ORPHA:228119 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Dysmenorrhea, Elevated circulating creatine kinase concentration, Polycys... |
ORPHA:79240 |
| Glanzmann Thrombasthenia |
|
Menometrorrhagia, Menorrhagia |
ORPHA:849 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Microcephaly, Scoliosis, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Hypertonia |
OMIM:254120 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:2547 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Myoclonus, Cerebral atrophy, Rigidity |
OMIM:619057 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Neuroferritinopathy |
|
Resting tremor, Difficulty walking, Abnormal basal ganglia morphology, Parkinsonism, Bradykinesia... |
ORPHA:157846 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal corpus callosum morphology, Spasticity, Involuntary movements, Cerebral atrophy, Seizure... |
ORPHA:442835 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Spastic paraparesis, Eczematoid dermatitis, Cryptorchidism, Tran... |
ORPHA:3132 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Inability to walk, Hepatosplenomega... |
ORPHA:505248 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Wilson Disease |
|
Hepatitis, Difficulty walking, Acute hepatitis, Splenomegaly, Hepatic steatosis, Clumsiness, Hepa... |
ORPHA:905 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Seizure, Hemiplegia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly... |
OMIM:603553 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr... |
OMIM:614381 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Seizure, Tremor, Kyphoscoliosis, Parkinsonism, ... |
ORPHA:3077 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Seizure, Inability to walk, Respiratory tract infection, Trem... |
OMIM:218000 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait ... |
OMIM:601104 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Microcephaly, Spasticity, Decreased circulating antibody level, Ataxia |
OMIM:613078 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Abnormal medulla oblongata morphology, Abnormal cerebr... |
ORPHA:68 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadi... |
ORPHA:848 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesi... |
ORPHA:2357 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Disproportionate short-limb short stature, Cerebellar vermis atrophy, Lymphopen... |
OMIM:616541 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Menorrhagia |
ORPHA:168816 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Endocarditis, Granuloma, ... |
ORPHA:781 |
| Lig4 Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Micropenis |
OMIM:606593 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated... |
OMIM:620642 |
| Lesch-Nyhan Syndrome |
|
Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus, Megaloblastic anemia, Tes... |
OMIM:300322 |
| Cockayne Syndrome Type 1 |
|
Male hypogonadism, Difficulty walking, Postnatal growth retardation, Cryptorchidism, Tremor, Lowe... |
ORPHA:90321 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Dysmenorrhea, Elevated circulating creatine kinase concentration, Polycys... |
ORPHA:264580 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:612736 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:261272 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... |
ORPHA:275 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A... |
OMIM:614742 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis... |
OMIM:615482 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia |
ORPHA:2117 |
| Rift Valley Fever |
|
Hepatitis, Skin rash, Hemiparesis, Infectious encephalitis, Paralysis, Jaundice, Paraparesis, Thr... |
ORPHA:319251 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... |
OMIM:209920 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Seizure, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Short neck, Colpo... |
OMIM:619955 |
| Zika Virus Disease |
|
Congenital intracerebral calcification, Myelitis, Skin rash, Maculopapular exanthema, Infectious ... |
ORPHA:448237 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Febrile seizure (within the age range of 3 months to ... |
OMIM:170100 |
| Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Hypothyroidism, Thrombocytosis... |
OMIM:226300 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... |
OMIM:500013 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Skin rash, Pustule, M... |
OMIM:615934 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Cerebellar vermis hypoplasia, Chronic mucocuta... |
OMIM:242840 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... |
OMIM:613673 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypospadias, Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Pos... |
ORPHA:96179 |
| Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Spastic paraplegia, Cerebral cortical atrophy, Pneumonia, Cerebellar atrophy, Chia... |
ORPHA:309282 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Facial paralysis, Seizure, Sandwich appearance of vertebral bodies, Osteomyelitis, Pancytopenia, ... |
OMIM:259700 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... |
ORPHA:238459 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios |
ORPHA:3412 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le... |
OMIM:603467 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Age... |
ORPHA:220493 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Rigidity, Opisthotonus, Hyperhidrosis, Myoclonic spasms, Exaggerated startl... |
OMIM:184850 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Cerebellar atrophy, Seizure, Secondary microcephaly, Abnormal cerebellum morp... |
OMIM:618056 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor, Increased circulating antibody level, Eosinophilia, Atrophy of the spinal... |
ORPHA:99965 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex I |
OMIM:615578 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Cryptorchidism, Hypoplasia of the corpus callosum, Ataxia, Posterior pituitary ... |
ORPHA:268261 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficulty walking, D... |
ORPHA:502423 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Smith-Kingsmore Syndrome |
|
Reduced cerebral white matter volume, Seizure, Hemimegalencephaly, Decreased circulating IgA leve... |
OMIM:616638 |
| Icf Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ... |
ORPHA:2268 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... |
OMIM:600116 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... |
OMIM:613490 |
| Gaucher Disease, Type Ii |
|
Spasticity, Bronchiolitis, Cerebral atrophy, Seizure, Splenomegaly, Rigidity, Hepatomegaly, Oculo... |
OMIM:230900 |
| 12Q14 Microdeletion Syndrome |
|
Chiari malformation, Abnormality of the spleen, Tremor, Microcephaly, Scoliosis |
ORPHA:94063 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Decr... |
ORPHA:1493 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Decreased circulating IgG level, Chiari malformation, Lumbar hyperlordosis, Congen... |
OMIM:271510 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Cerebral atrophy, Seizure, Inability to walk, Polymicrogyria, Myoclonu... |
OMIM:618877 |
| Aicardi-Goutières Syndrome |
|
Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Degeneration of the striat... |
ORPHA:51 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... |
OMIM:602481 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:615665 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal form of the vertebral bodies, Seizure, Aplasia/Hypoplasia ... |
ORPHA:475 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mildly elevated creatine kinase, Mitochondrial swelling |
ORPHA:397744 |
| Kaposiform Lymphangiomatosis |
|
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Abnormal t... |
ORPHA:464329 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tr... |
OMIM:254900 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... |
ORPHA:53351 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo... |
OMIM:230800 |
| Melioidosis |
|
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Parotitis, Foot osteomyelitis, Abnormalit... |
ORPHA:31202 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... |
OMIM:233600 |
| Ataxia With Vitamin E Deficiency |
|
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... |
ORPHA:96 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Immotile sperm, Absent i... |
OMIM:613807 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Angiostrongyliasis |
|
Hyperesthesia, Seizure, Hypereosinophilia, Paresthesia, Increased circulating specific IgE antibo... |
ORPHA:74 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Abnormal pulmonary interstitial morphology, Pancyto... |
OMIM:613990 |
| Familial Afibrinogenemia |
|
Menometrorrhagia |
ORPHA:98880 |
| Typhoid |
|
Splenomegaly, Tremor, Skin rash, Infectious encephalitis, Hypertonia, Ataxia, Hepatomegaly, Abnor... |
ORPHA:99745 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia |
ORPHA:141152 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Lewy bodies, Rigidity, Dysto... |
ORPHA:411602 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... |
OMIM:615468 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Alström Syndrome |
|
Testicular fibrosis, Incoordination, Decreased circulating T4 concentration, Hepatosplenomegaly, ... |
ORPHA:64 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Seizure, Cerebral atrophy, Decreased circulating IgA level, Hypoplasia of the corpus callosum, Th... |
OMIM:606056 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Posterior scallopi... |
ORPHA:3042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Central hypothyroidism, Seizure, Febrile seizure (within the age range of 3 months to 6 years), B... |
OMIM:300998 |
| Dpagt1-Cdg |
|
Cerebral cortical atrophy, Global brain atrophy, Seizure, Inability to walk, Epileptic spasm, Aki... |
ORPHA:86309 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis, Microcephaly, Ataxia |
OMIM:611943 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... |
ORPHA:96181 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Osteomyelitis, Dysplastic... |
OMIM:618010 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Agenesis of corpus callosum, Oculo... |
ORPHA:220497 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... |
OMIM:619693 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anhidrosis, Hepatomegaly, Hemolytic a... |
ORPHA:169090 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physi... |
ORPHA:99867 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Acne, Inflammation of the large intestine, Osteomyelitis, Psoriasi... |
ORPHA:324964 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Butterfly vertebrae, Cryptorchidism, Missing ribs, Hypogonadotropic... |
OMIM:206900 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci... |
OMIM:617099 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Seizure, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Periv... |
ORPHA:158048 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ... |
ORPHA:36238 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Spasticity, Periportal fibrosis, Cerebellar atrophy, Seizure, Cerebral atrophy, Cholestasis, Hepa... |
OMIM:124000 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:48431 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Hepatomegal... |
OMIM:617591 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Hypoplasia of the pons, Generalized ... |
OMIM:620455 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Abnormal pyramid... |
OMIM:608768 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:899 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar v... |
ORPHA:397715 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Spasticity, Hypoplasia of the corpus callosum, Short neck, Prominent coccyx, Ataxia, Chronic otit... |
OMIM:300966 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Prolonged G2 phase o... |
OMIM:227646 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Cerebellar atrophy, Generalized dystonia, Eye of the tiger anomaly of globus pallidus... |
OMIM:614298 |
| Scrub Typhus |
|
Seizure, Splenomegaly, Tremor, Skin rash, Infectious encephalitis, Hyperhidrosis, Lymphadenopathy... |
ORPHA:83317 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Scoliosis, Gliosis, Seizure |
OMIM:120330 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Pancreatic cysts, Neoplasm of the pancrea... |
ORPHA:892 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... |
ORPHA:99750 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Diffuse white matter abnormalities, Stillbirth, Extramedullary hematopoiesis, Cerebral atrophy, G... |
OMIM:259720 |
| Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, ... |
OMIM:609454 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Seiz... |
OMIM:615895 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Seizure, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonat... |
ORPHA:499009 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Keratitis, Goiter, Episcleritis, Splenomegaly, Tremor, Increased circulating free... |
ORPHA:525731 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar a... |
OMIM:620327 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Difficulty walking, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Abn... |
ORPHA:309854 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Seizure, Hemiplegia, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatom... |
OMIM:267700 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia |
OMIM:617255 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Glioma, Neurodegeneration, Recurrent otitis media, Autoimmune hemolytic anem... |
OMIM:251260 |
| Pneumocystosis |
|
Pleural effusion, Interstitial pneumonitis, Increased circulating antibody level, Multiple pulmon... |
ORPHA:723 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Spontaneous pain sensation, Seizure, Paraprot... |
ORPHA:91139 |
| Oculoskeletodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum, Hyperlordosis, Scoliosis, Thoracic kyphosis |
ORPHA:557003 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Cerebral cortical atrophy, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Seizure, Osteomyelitis,... |
OMIM:259710 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Leukoencephalopathy, Global brain atrophy, Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigi... |
OMIM:617186 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyroidism, Hepatomegaly, Hypoplast... |
ORPHA:699 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Pachygyria, Hepatic steatosis, Neonatal death, Gliosis, Hepatomegaly... |
OMIM:231680 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... |
OMIM:256500 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Difficulty walking, Gait imbala... |
ORPHA:488627 |
| Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Eczematoid dermatitis, Seizure, Decreased circulating IgA level, Recurrent aphthous stoma... |
OMIM:212750 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Generalized myoclonic seizure, Cerebral atrophy, Epileptic spasm, Tremor, Hyp... |
OMIM:612164 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis |
ORPHA:930 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Generalized dystonia, Seizure, Inability to walk, Aspiration pneumonia,... |
ORPHA:216866 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Cerebral hypoplasia, E... |
ORPHA:508542 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Recurrent pneumonia, Keratitis, Cerebral atrophy, Seizure, Microcytic anemia, Recurrent o... |
ORPHA:99843 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Leukoencephalopathy, Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morph... |
ORPHA:83629 |
| Asparagine Synthetase Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Clonus, Clonic seizure, Spastic tetrap... |
OMIM:615574 |
| Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Diffuse white matter abnormalities, Seizure, Bilateral crypt... |
ORPHA:1600 |
| Molybdenum Cofactor Deficiency, Type A |
|
Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum, Opisthotonus, Microcephaly, Gliosis... |
OMIM:252150 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Chromosome 18Q Deletion Syndrome |
|
Atopic dermatitis, Broad-based gait, Seizure, Recurrent respiratory infections, Decreased respons... |
OMIM:601808 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, Seiz... |
OMIM:253200 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Spasticity, Aspiration pneumonia, Loss of ambulation, Abnormal pyramidal sign... |
ORPHA:581 |
| Gracile Bone Dysplasia |
|
Thin ribs, Asplenia, Hypoplastic spleen, Seizure |
OMIM:602361 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased circulating prolactin concentration, Difficulty walking, Inability to walk, Limb ataxia... |
OMIM:617675 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Oligohydramnios, Microphthalmia |
OMIM:619053 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tre... |
OMIM:137440 |
| Parkinson-Dementia Syndrome |
|
Tremor, Kyphoscoliosis, Rigidity, Parkinsonism, Abnormal pyramidal sign, Abnormal pyramidal tract... |
OMIM:260540 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Spasticity, Seizure, Generalized-onset seizure, Simplified gyral pa... |
OMIM:220111 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... |
OMIM:620296 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility |
OMIM:614874 |
| Avian Influenza |
|
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious encephaliti... |
ORPHA:454836 |
| Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... |
OMIM:613280 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Hepatosplenomegaly,... |
ORPHA:39812 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Ap... |
OMIM:607485 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Ataxia, Recurrent lower respira... |
OMIM:619229 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... |
OMIM:612387 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Cavitation of the basal ganglia, Laryngeal dystonia, Neurodegeneration... |
OMIM:606159 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... |
OMIM:610489 |
| Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Flaring of lower rib cage, Sacr... |
ORPHA:175 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Seizure, Microcephaly, Scoliosis |
ORPHA:2135 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:314679 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... |
ORPHA:98773 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia |
ORPHA:228390 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Hyperlordo... |
OMIM:613327 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... |
OMIM:618131 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Seizure, Cervical ribs, Hepatosplenomegaly, Decreased circulating a... |
OMIM:274000 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... |
OMIM:606693 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Seizure, Spastic tetraparesis, Cholestasis, Hypoplasia of the corpus callosu... |
OMIM:614924 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Seizure, Focal polymicrogyria, Cryptorchidism, Dysplastic corpus callosum, Mi... |
OMIM:619103 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Patent ductus arteriosus |
ORPHA:90308 |
| Zttk Syndrome |
|
Spasticity, Kyphosis, Seizure, Cervical ribs, Absent gallbladder, Periventricular leukomalacia, H... |
OMIM:617140 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Secondary microcephaly, Abnormality of coordination, Limb dyst... |
ORPHA:352649 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ... |
OMIM:615607 |
| Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Febrile seizure (within the age range of 3 months t... |
ORPHA:810 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
| Gaucher Disease |
|
Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Ataxi... |
ORPHA:355 |
| Malakoplakia |
|
Abnormality of the menstrual cycle, Prostate neoplasm, Orchitis |
ORPHA:556 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Alexander Disease |
|
Spasticity, Seizure, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Infecti... |
ORPHA:58 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Spasticity, Chiari malformation, Lateral ventricle dilatation, Absent gallbladder, Hypoplasia of ... |
ORPHA:500150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema |
ORPHA:2526 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... |
ORPHA:168569 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... |
OMIM:244400 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137100 |
| Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, T2 hypointense basal ganglia, Open operculum, Seizure, Chorea, Pallidal ... |
ORPHA:25 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Seizure, Speech apraxia, Cryptorchidism, Tremor, Kyphoscoliosis, Dysplastic corpus callosum, Cere... |
OMIM:300967 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Irregular ossificat... |
OMIM:260400 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Infectious encephalitis, Abscess, Skin rash, Resp... |
ORPHA:36234 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Loss of ambulation, Pneumonia, Scoliosis, Hyperlordosis |
OMIM:253700 |
| Immunodeficiency 31C |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu... |
OMIM:614162 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia |
OMIM:136760 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Microcephaly, Hypertonia |
OMIM:250800 |
| Alg9-Cdg |
|
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
| Lassa Fever |
|
Seizure, Jaundice, Conjunctivitis, Increased circulating IgM level, Back pain |
ORPHA:99824 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1438 |
| Helsmoortel-Van Der Aa Syndrome |
|
Typical absence seizure, Lateral ventricle dilatation, Seizure, Decreased response to growth horm... |
OMIM:615873 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Difficulty walking, Impaired tactile sensation, Impaired vibratory sensation, Tongue tremor, Soma... |
ORPHA:466768 |
| Wolfram Syndrome 2 |
|
Diabetes insipidus, Oligomenorrhea, Diabetes mellitus, Primary amenorrhea |
OMIM:604928 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:610756 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Abnormal corpus callosum morphology, Seizure, Polymicrogyria, Generalized-onset seizure, Decrease... |
ORPHA:457485 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Umbilical hernia |
ORPHA:1101 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
| Tetrasomy 9P |
|
Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Missing ribs, Short neck, Ol... |
ORPHA:3310 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99226 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:881 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Hypoplasia of the ... |
ORPHA:2072 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O... |
ORPHA:31205 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... |
OMIM:615207 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Hypoplasia of the corpus callosum, Choreoathetosis, Generalized non-motor (absence) s... |
ORPHA:1934 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:611134 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Wolfram Syndrome |
|
Male hypogonadism, Hypogonadism, Delayed puberty, Ataxia, Anemia, Diabetes insipidus, Diabetes me... |
ORPHA:3463 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Parkinsonism, Cerebral cortex with spongiform changes, Gliosis, Neurofibrillary tangles |
OMIM:606688 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Recurrent aspiration pneu... |
ORPHA:98897 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Monosomy 18P |
|
Microphthalmia, Lymphedema |
ORPHA:1598 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
| Adams-Oliver Syndrome 2 |
|
Oligohydramnios, Microphthalmia |
OMIM:614219 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Seizure, Aspiration pneumonia, Secondary microcephaly, Myoclonus, Neonatal death, Ataxia, Hepatom... |
OMIM:619167 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Epididymal cyst, Papillary cysta... |
OMIM:193300 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| Cryptococcosis |
|
Pneumonia, Cerebral cortical atrophy, Seizure, Osteomyelitis, Nodular pattern on pulmonary HRCT, ... |
ORPHA:1546 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency, P... |
OMIM:137920 |
| Hennekam Syndrome |
|
Chylothorax, Erysipelas, Seizure, Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmo... |
ORPHA:2136 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Meckel Syndrome |
|
Oligohydramnios, Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Ane... |
ORPHA:564 |
| X-Linked Centronuclear Myopathy |
|
Inability to walk, Recurrent respiratory infections, Pneumonia |
ORPHA:596 |
| Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Hepatitis, Ec... |
ORPHA:391487 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Pyruvate Carboxylase Deficiency |
|
Tip-toe gait, Seizure, Increased caudate lactate level, Periventricular cysts, Infantile spasms, ... |
ORPHA:3008 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Global brain atrophy, Eye of the tiger anomaly of globus pallidus, Neu... |
OMIM:234200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Seizure, Difficulty walking, Ankle clonus, Gliosis, Dystonia |
OMIM:618222 |
| Lafora Disease |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca... |
ORPHA:501 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Gait disturbance,... |
ORPHA:77261 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Oligohydramnios, Increased nuchal translucency, Microphthalmia |
OMIM:618494 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Brain abscess, Seizure... |
ORPHA:544482 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:300863 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Seizure, Goiter, Abnormality of the liver, Cogwheel rigidity,... |
ORPHA:254892 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... |
ORPHA:90790 |
| Holoprosencephaly |
|
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia |
ORPHA:2162 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormality of the pan... |
ORPHA:935 |
| Chops Syndrome |
|
Aspiration pneumonia, Splenomegaly, Cryptorchidism, Cervical C2/C3 vertebral fusion, Microcephaly... |
OMIM:616368 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Edema, Umbilical hernia |
ORPHA:2505 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Seizure, Lymphopenia, Interstitial pneumonitis, Thrombocyto... |
ORPHA:454831 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Seizure, Increased circulating IgE level, Emphysema, Skin rash, Erythroder... |
ORPHA:634 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Camurati-Engelmann Disease |
|
Abnormality of the vertebral column, Hypogonadism, Leukopenia, Splenomegaly, Delayed puberty, Hyp... |
ORPHA:1328 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Panhypogammaglobulinemia, Lymphopenia, Ab... |
ORPHA:84064 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Seizure, Bilateral cryptorchidism, Hypoplasia of the corpus callosum, Kyphoscoliosis, Pneumothora... |
OMIM:617403 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Recurrent upper respiratory tract infections, Hypoplasia of the odontoi... |
OMIM:602535 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Involuntary movements, Bilateral tonic-clonic seizure on awakening, Seizure, In... |
ORPHA:438213 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Decreased circulating IgG level, Decreased circulating IgA level, Microcephaly, Atonic se... |
OMIM:617062 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... |
ORPHA:178320 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht... |
OMIM:153400 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Short neck, Generalized myoclonic seizure, Arthritis |
OMIM:613328 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Cholestasi... |
OMIM:620233 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Basal ganglia calcification, Anhidrosis, Splenomeg... |
OMIM:216400 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Breast hypoplasia, Cryptorchidism, Tremor,... |
ORPHA:506358 |
| Osteogenesis Imperfecta |
|
Thin ribs, Cervical kyphosis, Somatic sensory dysfunction, Abnormal form of the vertebral bodies,... |
ORPHA:666 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Scoliosis, Cryptorchidism |
ORPHA:98905 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Seizure, Aspiration pneumonia, Speech apraxia, Epileptic spasm, Myoclonus, B... |
ORPHA:314655 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... |
ORPHA:2298 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Seizure, Pseudobulbar paralysis, Supernumerary nipple, Speech apraxia, Bilateral cryptorchidism, ... |
ORPHA:466791 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Sponastrime Dysplasia |
|
Platyspondyly, Recurrent pneumonia, Chiari malformation, Abnormality of the vertebral column, Lum... |
ORPHA:93357 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:618804 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... |
OMIM:612953 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Microphthalmia |
OMIM:169550 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Seizure, Cryptorchidism, Otitis media, Supernumerary ribs, Short sternum, Hypoplastic ... |
OMIM:122470 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym... |
ORPHA:99827 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Generalized non-motor (absence) seizure, Hypersplenism, Abnormal cerebellum morph... |
ORPHA:77293 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
| Renal Nutcracker Syndrome |
|
Varicocele, Dysmenorrhea, Vulval varicose vein, Dyspareunia, Anemia, Infertility |
ORPHA:71273 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... |
ORPHA:449280 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Seizure, Basal ganglia calcification, Anhidrosis, Splenomegaly, Tremor, Cryptor... |
OMIM:133540 |
| Miller-Dieker Lissencephaly Syndrome |
|
Lissencephaly, Midline brain calcifications, Seizure, Progressive spastic paraplegia, Epileptic s... |
OMIM:247200 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
| Nocardiosis |
|
Pneumonia, Brain abscess, Lymphadenitis, Cutaneous abscess, Seizure, Keratitis, Osteomyelitis, Em... |
ORPHA:31204 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Postnatal growth retardation, Cryptorchidism, Kyp... |
OMIM:163950 |
| Digeorge Syndrome |
|
Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Hemiparesis, Hepatic stea... |
OMIM:188400 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:163966 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Increased circulating interleukin 6 concentration, Leukocytosis, Tubulointerstitial ne... |
ORPHA:340 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Spasticity, Seizure, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,... |
OMIM:618569 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En... |
ORPHA:73263 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Short neck, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia |
ORPHA:370959 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Umbilical hernia, Streak ovary, Micropenis, Hypospadias... |
ORPHA:798 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Bilateral cryptorchidism, Agenesis of corpus callosum, Short neck, Thoracolu... |
OMIM:300472 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Lysinuric Protein Intolerance |
|
Abnormality of humoral immunity, Intraalveolar phospholipid accumulation, Hemophagocytosis, Hepat... |
ORPHA:470 |
| Timothy Syndrome |
|
Pneumonia, Hypothyroidism, Bronchitis, Seizure |
OMIM:601005 |
| Methylmalonic Aciduria, Cbla Type |
|
Seizure, Pancytopenia, Tremor, Hepatomegaly, Neutropenia, Thrombocytopenia, Anemia |
OMIM:251100 |
| Rere-Related Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:494344 |
| Wilson Disease |
|
Limb dystonia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism, Hepatomegaly, Jaundice, Portal f... |
OMIM:277900 |
| Doors Syndrome |
|
Aspiration pneumonia, Polymicrogyria, 11 pairs of ribs, Congenital hypothyroidism, Myoclonus, Adr... |
ORPHA:79500 |
| Degcags Syndrome |
|
Pneumonia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Agenesis of... |
OMIM:619488 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Spasticity, Broad-based gait, Lateral ventricle dilatation, Recurrent otitis media, Secondary mic... |
ORPHA:261537 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hyperesthesia, Pain insensitivity, Aplasia of the sweat glands, Abnormality of humoral immunity, ... |
ORPHA:642 |
| Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Microphthalmia |
OMIM:616920 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2538 |
| Yellow Fever |
|
Pancreatic hyperplasia, Seizure, Leukocytosis, Skin rash, Low back pain, Thrombocytopenia, Neutro... |
ORPHA:99829 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Intrauterine gr... |
OMIM:305000 |
| Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Seizure, Aspiration pneumonia, Cryptorchidism, Agen... |
ORPHA:1465 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Broad-based gait, Growth delay, Speech apraxia, 11 pairs of ribs,... |
ORPHA:2044 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Tip-toe gait, Seizure, Incoordination, Periventricular leukomalacia,... |
ORPHA:512 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Inflammation of the large intestine, Abnormal pulmonary interstitial mo... |
OMIM:181000 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Pneumonia, Chiari malformation, Cryptorchidism, Agenesis of corpus callosum, Hypoplasi... |
OMIM:264090 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis |
OMIM:615561 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Trichothiodystrophy 3, Photosensitive |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:99889 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Broad ribs, Cryptorchidism, Agenesis of corpus callosum, Dysplastic co... |
OMIM:151050 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Decreased circulating Ig... |
OMIM:223370 |
| Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
OMIM:251230 |
| Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Retroperitoneal fibrosis, Increased circulating IgG4 level,... |
ORPHA:79078 |
| Galloway-Mowat Syndrome 3 |
|
Intrauterine growth retardation, Oligohydramnios, Edema, Microphthalmia |
OMIM:617729 |
| Wiedemann-Rautenstrauch Syndrome |
|
Spasticity, Increased circulating prolactin concentration, Increased serum estradiol, Type II dia... |
ORPHA:3455 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration, Anhidrosis, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Par... |
OMIM:146500 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra... |
ORPHA:186 |
| Charge Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Anophthalmia, Microphthalmia, Polyhydramnios |
ORPHA:138 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Elevated ... |
ORPHA:97287 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Lewy bodies, Tremor, Rigidity, Dystonia, Substantia... |
OMIM:168600 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Seizure, Secondary microcephaly, Tremor, Neonatal death, Hypoplasia of the corp... |
OMIM:617248 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1915 |
| Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Uveitis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hyp... |
ORPHA:171 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Recurrent aspiration pneumonia, Abnormal form of the vertebral bodies, Hepatomegaly, H... |
ORPHA:73230 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, D... |
OMIM:222470 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Blepharitis, Cerebellar atrophy, Seizure, Tremor, Hypoplasi... |
ORPHA:280633 |
| Floating-Harbor Syndrome |
|
Varicocele, Glandular hypospadias, 11 pairs of ribs, Cryptorchidism, Kyphoscoliosis, Short neck, ... |
OMIM:136140 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Myhre Syndrome |
|
Platyspondyly, Seizure, Broad ribs, Enlarged vertebral pedicles, Cryptorchidism, Microcephaly, Sh... |
OMIM:139210 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Aspiration pneumonia, Extrapyramidal muscular rigidity, Chorea, Leukocytosis, ... |
ORPHA:94093 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, H... |
ORPHA:99776 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Aspiration pneumonia |
OMIM:616430 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
| Proximal Spinal Muscular Atrophy |
|
Tongue fasciculations, Difficulty walking, Inability to walk, Recurrent infections due to aspirat... |
ORPHA:70 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... |
ORPHA:562639 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Frontonasal Dysplasia 2 |
|
Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia |
OMIM:613451 |
| Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Scoliosis, Focal impaired awareness seizure, Lateral ventricle dil... |
OMIM:147920 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Tremor, Schistocytosis, Thrombocytopenia, Pro... |
OMIM:274150 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... |
ORPHA:48435 |
| Opitz Gbbb Syndrome |
|
Abnormal corpus callosum morphology, Cryptorchidism, Hypoplasia of the corpus callosum, Vertebral... |
ORPHA:2745 |
| Meckel Syndrome 14 |
|
Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia |
OMIM:619879 |
| African Trypanosomiasis |
|
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Hepatomegaly, Jaundice, Choreoathetosis, Abn... |
ORPHA:3385 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Spasticity, Broad-based gait, Hypoplastic anterior commissure, Lateral ventricle dilatation, Recu... |
ORPHA:261552 |
| Mowat-Wilson Syndrome |
|
Spasticity, Broad-based gait, Recurrent otitis media, Enlarged cerebellum, Cryptorchidism, Hypopl... |
ORPHA:2152 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Decreased testicular size, Microcephaly, Cryptorchidism |
ORPHA:1867 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Semilobar Holoprosencephaly |
|
Spasticity, Central hypothyroidism, Seizure, Aspiration pneumonia, Inability to walk, Abnormal ce... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Spasticity, Central hypothyroidism, Seizure, Aspiration pneumonia, Inability to walk, Abnormal ce... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Spasticity, Central hypothyroidism, Seizure, Aspiration pneumonia, Inability to walk, Abnormal ce... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Spasticity, Central hypothyroidism, Seizure, Aspiration pneumonia, Inability to walk, Abnormal ce... |
ORPHA:93924 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2556 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Edema, Microphthalmia |
OMIM:302960 |
| Adams-Oliver Syndrome |
|
Ascites, Encephalocele, Microphthalmia |
ORPHA:974 |
| Mercury Poisoning |
|
Seizure, Interstitial pneumonitis, Tremor, Abnormal cerebral white matter morphology, Dystonia |
ORPHA:330021 |
| Marden-Walker Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:248700 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1352 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia |
OMIM:610829 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Microphthalmia |
OMIM:614424 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ... |
OMIM:609049 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Umbilical hernia |
ORPHA:369891 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:2728 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Fumarase Deficiency |
|
Mitochondrial swelling |
OMIM:606812 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... |
ORPHA:199351 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... |
OMIM:619991 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Tremor, Otitis media, Chronic rhinitis, Hepatomegaly, Pulmonary artery stenosis, Ly... |
ORPHA:667 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Garg-Mishra Progeroid Syndrome |
|
Microphthalmia |
OMIM:620601 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:821 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Microphthalmia, Syndromic 2 |
|
Umbilical hernia, Anophthalmia, Microphthalmia |
OMIM:300166 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Decreased circulating antibody level, Recurrent skin infections |
ORPHA:79396 |
| Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Hepatomegaly, Tubul... |
ORPHA:797 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Frontorhiny |
|
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia |
ORPHA:391474 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos |
OMIM:610758 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Rachitic rosary, Growth delay, Exocrine pancreatic insufficiency, Splenomegaly... |
OMIM:219800 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
| Micro Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:2510 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
| Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Seizure |
ORPHA:1951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Inflamm... |
ORPHA:707 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Anemia, Jaundice, Decreased cir... |
ORPHA:247598 |
| Kapur-Toriello Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:244300 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir... |
OMIM:610910 |
| Diets-Jongmans Syndrome |
|
Gliosis, Cryptorchidism, Seizure, Thick corpus callosum |
OMIM:618846 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia |
ORPHA:2052 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
ORPHA:364577 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Microphthalmia |
ORPHA:1692 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
OMIM:251300 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov... |
OMIM:613070 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Encephalocele, Microphthalmia |
OMIM:619148 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Charge Syndrome |
|
Umbilical hernia, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Polyhydramnios |
OMIM:214800 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Facial paralysis, Tetraparesis, Dysesthesia, Respiratory tract infection, Babinski sig... |
ORPHA:79138 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Microphthalmia |
ORPHA:1106 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| Trisomy 18 |
|
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Anencephaly |
ORPHA:3380 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Chiari malformation, Seizure, Secondary microcephaly, Cryptorchidism, Otitis media, Ab... |
ORPHA:353281 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Ascites, Intrauterine growth retardation, Increased nuchal translucency, Microphthalmia, Polyhydr... |
ORPHA:1052 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T... |
OMIM:615530 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Microphthalmia |
ORPHA:268249 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Fryns Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:2059 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Abnormal corpus callosum morphology, Chiari malformation, Seizure, Secondary microceph... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Abnormal corpus callosum morphology, Chiari malformation, Seizure, Secondary microceph... |
ORPHA:353277 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
| Cohen Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:193 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Seizure, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent skin... |
ORPHA:79404 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
| Oculo-Palato-Cerebral Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:2714 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Microphthalmia, Encephalocele, Umbilical hernia |
ORPHA:2166 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Encephalocele, Microphthalmia |
OMIM:614643 |
| Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Microphthalmia |
OMIM:113620 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
| Witteveen-Kolk Syndrome |
|
Poor motor coordination, Eczematoid dermatitis, Seizure, Decreased response to growth hormone sti... |
OMIM:613406 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Cerebellar vermis hypoplasia, Absent nipple, Cryptorchidism, Hypoplasia of the cor... |
OMIM:612289 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Microphthalmia |
OMIM:601707 |
| Pmm2-Cdg |
|
Platyspondyly, Cerebellar vermis hypoplasia, Hepatic fibrosis, Seizure, Increased circulating pro... |
ORPHA:79318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia |
OMIM:236670 |
| Orofaciodigital Syndrome Ix |
|
Microcephaly, Recurrent aspiration pneumonia, Brain atrophy |
OMIM:258865 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Seizure, Aspiration pneumonia, Difficulty walking, Scoliosis, Kyphosis |
OMIM:619482 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Spina bifida, Bilateral microphthalmos |
ORPHA:2839 |
| 1Q21.1 Microdeletion Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:250989 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia |
ORPHA:2092 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Absent vas deferens, Male infertility |
ORPHA:586 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Fraser Syndrome 2 |
|
Oligohydramnios, Microphthalmia |
OMIM:617666 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Aspiration pneumonia, Decreased response to growth hormone stimula... |
ORPHA:444077 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Recurrent upper respiratory tract infections, Pleural effusion, Cryptorchidism, Hypothyroidism, D... |
OMIM:618183 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Xerostomia, Keratitis, Skin rash, Keratoconjunct... |
ORPHA:95455 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... |
OMIM:219700 |
| Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:606519 |
| Jacobsen Syndrome |
|
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia |
OMIM:147791 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Microphthalmia |
OMIM:234100 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Congenital aphakia, Microphthalmia |
ORPHA:137675 |
| Stromme Syndrome |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:243605 |
| Fanconi Anemia, Complementation Group N |
|
Microphthalmia |
OMIM:610832 |
| Cousin Syndrome |
|
Hydranencephaly, Microphthalmia |
OMIM:260660 |
| 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 |
| Viss Syndrome |
|
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le... |
OMIM:619472 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia |
OMIM:616300 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Oligohydramnios, Microphthalmia |
OMIM:608670 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
| Pallister-Hall Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:146510 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Fanconi Anemia, Complementation Group L |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:614083 |
| Roberts Syndrome |
|
Polyhydramnios, Microphthalmia, Severe intrauterine growth retardation |
ORPHA:3103 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Recurrent otitis media, Hypothyroidism |
OMIM:619426 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... |
OMIM:256520 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Kyphoscoliosis, Hyperlordosis, Recurrent respiratory infections, Scoliosis |
ORPHA:2020 |
| Distal Deletion 19P |
|
Decreased circulating antibody level, Seizure |
ORPHA:96129 |
| Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Microphthalmia |
OMIM:109400 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Fanconi Anemia |
|
Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Aplasia/Hypoplasia of the iri... |
ORPHA:84 |
| Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Microphthalmia |
OMIM:608940 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microphthalmia |
ORPHA:508498 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Joint swelling, Microphthalmia, Buphthalmos, Dehydration |
ORPHA:534 |
| Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia |
OMIM:617809 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligohydramnios, Microp... |
OMIM:249000 |
| Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Seizure, Bilateral cryptorchidism, Recurrent otitis media, Recurr... |
OMIM:616268 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Polyhydramnios, Intrauterine growth retardation, Branchial cyst, Microphthalmia |
OMIM:620186 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Fryns Syndrome |
|
Polyhydramnios, Chylothorax, Microphthalmia |
OMIM:229850 |
| 22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Polyhydramnios, ... |
ORPHA:567 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616975 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:263650 |
| Cholera |
|
Seizure, Aspiration pneumonia |
ORPHA:173 |
| Craniofacial Microsomia 1 |
|
Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164210 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Monosomy 13Q14 |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:1587 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Bilateral microphthalmos, Microphthalmia |
OMIM:610828 |
| Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Increased nuchal translucency, Microphthalmia, Polyhydramnios, Hydrops ... |
ORPHA:3472 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia |
ORPHA:1018 |
| Aicardi Syndrome |
|
Spina bifida, Microphthalmia |
OMIM:304050 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia |
OMIM:268400 |
| Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Absent nipple, Aspiration pneumonia, Cryptorchidism, Anterior conca... |
OMIM:216340 |
| Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia |
ORPHA:90324 |
| Phace Syndrome |
|
Lens coloboma, Optic nerve hypoplasia, Microphthalmia |
ORPHA:42775 |
| Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Intrauterine growth retardation, Anencephaly, Microphthalmia |
OMIM:236680 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia |
OMIM:309801 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia |
OMIM:259770 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia |
OMIM:309800 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:613884 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Intrauterine growth retardation, Bilateral microphthalmos |
ORPHA:93325 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
| Neuroocular Syndrome 1 |
|
Hypoplasia of the fovea, Lens coloboma, Microphthalmia, Umbilical hernia |
OMIM:619539 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Bilateral microphthalmos, Intrauterine growth retardation, Oligohydramnios, Spina... |
ORPHA:508488 |
| Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Oligohydramnios, Umbilical hernia |
ORPHA:672 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia |
ORPHA:99103 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia |
OMIM:273395 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation |
OMIM:268300 |
| Norrie Disease |
|
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:649 |
| Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
| Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
