Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Gemignani Syndrome |
|
Hypoplasia of penis, Ataxia, Short stature, Impaired pain sensation, Hypopigmented skin patches, ... |
ORPHA:2074 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Short stature, Microcephaly, Hypopigmented skin patches, Melanocytic nevus, Irregular hyperpigmen... |
ORPHA:2435 |
Dyschromatosis Universalis Hereditaria |
|
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... |
ORPHA:241 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Growth delay, Athetosis, Hypopigmentation of the skin, Dandy-Walker malformation |
OMIM:257800 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... |
ORPHA:2779 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Gombo Syndrome |
|
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Lissencephaly 8 |
|
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Hypoplasia of the cor... |
OMIM:617255 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
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Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Subco... |
ORPHA:33445 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
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Gait disturbance, Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai... |
OMIM:607624 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Highly arched eyebrow, Microcephaly, Synophrys, Simplified gyral pattern, Cerebral atro... |
OMIM:619286 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Lateral ventricle dilatation... |
ORPHA:79326 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Microcephaly, Decreased LDL cholesterol concentration, D... |
OMIM:616834 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism |
OMIM:606574 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt... |
ORPHA:411515 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral white matter atrophy, Microcephaly, Corpus callosum atrophy, CNS hypomyelination, Cerebr... |
ORPHA:369939 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim... |
ORPHA:3453 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... |
ORPHA:189 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystrophy, Hyperin... |
ORPHA:527497 |
Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination, Developmental cataract |
ORPHA:85163 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Nephrolithiasis, Decreased fertility, Delayed pu... |
ORPHA:1816 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus c... |
OMIM:300067 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Microcephaly, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
4H Leukodystrophy |
|
Cataract, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to... |
ORPHA:289494 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Hypoplasia of the corpus callosum, Leukodystrophy, CNS hypomyelination |
OMIM:616494 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Warburg Micro Syndrome 1 |
|
Delayed CNS myelination, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Developmenta... |
OMIM:600118 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
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 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ce... |
OMIM:614482 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Leukodystrophy, Hypomyelinating, 10 |
|
Reduced cerebral white matter volume, Prominent eyelashes, Cerebral atrophy, CNS hypomyelination,... |
OMIM:616420 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iri... |
OMIM:610023 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cerebral calcification, Microcephaly, Growth delay, Attention deficit h... |
ORPHA:79254 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Cessation of head growth, Cerebral hypomyelination, Leukoence... |
OMIM:603896 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Microcephaly, Delayed myelination, Temporal cortical atrophy, Cerebral... |
ORPHA:621 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Delayed CNS myelination, Reduced cerebral white matter volume, Dysplastic corpus callosum, Synoph... |
OMIM:620317 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Fine hair, Abnormal cerebr... |
ORPHA:500166 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Cataract, Small for gestational age, Hirsutism |
ORPHA:85288 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Developmental And Epileptic Encephalopathy 5 |
|
Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypopl... |
OMIM:613477 |
Phenylketonuria |
|
Cerebral calcification, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic... |
OMIM:261600 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Abnormal hair whorl, Delayed myelination, Simplified gyral pattern, Ce... |
OMIM:614261 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Microcephaly, Postnatal gro... |
ORPHA:391417 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Fa... |
OMIM:616577 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma |
OMIM:616428 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol concentratio... |
OMIM:618156 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Microcephaly, Delayed myelination, Hypoplasia of the corpus callosum, ... |
OMIM:610883 |
Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination, Frontotemporal cerebral atrophy, Secondary microcephaly, Hypoplasia of the c... |
OMIM:618559 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
Developmental And Epileptic Encephalopathy 86 |
|
Microcephaly, Small for gestational age, CNS hypomyelination |
OMIM:618910 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Delayed CNS myelination, Cataract, Synophrys, Leukoencephalopathy, Cerebral atrophy, CNS hypomyel... |
OMIM:619260 |
Leukodystrophy, Hypomyelinating, 15 |
|
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodyst... |
OMIM:617951 |
Griscelli Syndrome Type 1 |
|
Cerebral calcification, Ataxia, Partial albinism, White hair, Premature graying of hair, Iris hyp... |
ORPHA:79476 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Hypertriglyceridemia, Primary microcephaly |
OMIM:618010 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism |
ORPHA:2786 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination, Failure to thrive, Cerebral atrophy, Microcephaly |
OMIM:300475 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Delayed CNS myelination, Cataract, Microcephaly, Retinal pigment epitheli... |
OMIM:614105 |
Leukodystrophy, Hypomyelinating, 5 |
|
Cerebral white matter atrophy, Developmental cataract, CNS hypomyelination, Leukodystrophy, Onion... |
OMIM:610532 |
Developmental And Epileptic Encephalopathy 93 |
|
Microcephaly, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the corpus callosum, Iris colo... |
OMIM:618012 |
Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, CNS hypomyelination, Pili canaliculi |
ORPHA:643 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Infantile spasms |
OMIM:278780 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive, Abnormal fingernail morphology, Cataract |
ORPHA:2278 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Hypoplasia of the corpus callosum, Hyperglycinemia, Leukodystrophy |
OMIM:616859 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Precocious ... |
ORPHA:79414 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, CNS hypomyelination, Hypomagnesemia, Hypothyroidism, Thin corpus callosum |
OMIM:619908 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... |
OMIM:619165 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter atrophy, Hypoglycinemia, Abnormal cortical gyration, Abnormality of hair te... |
ORPHA:79351 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, CNS hypomyelination, Cerebral cortical atrophy, Hypoplasia of the ... |
OMIM:607694 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Diabetes mellitus, Highly arched eyebrow, Microcephaly, Low anterior hairline, Simplified gyral p... |
OMIM:618622 |
Mucolipidosis Iv |
|
Corneal opacity, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastrine... |
OMIM:252650 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Microcephaly, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Hypoplasia of the ... |
OMIM:615760 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phal... |
OMIM:615297 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation... |
OMIM:214400 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Short stature |
OMIM:610798 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... |
ORPHA:79397 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Severe demyelination of the white matter, CNS hypomyelination, Progressive microcephaly, Hypoplas... |
ORPHA:481152 |
Kaya-Barakat-Masson Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy, CNS hypomyelination |
OMIM:619125 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal basal ganglia morphology, CNS hypomyelination, Cerebral c... |
ORPHA:447896 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism, CNS hypomyelination |
ORPHA:88637 |
Al-Raqad Syndrome |
|
Inability to walk, Microcephaly, Hypopigmentation of the skin, Gait ataxia |
OMIM:616459 |
Leukodystrophy, Hypomyelinating, 22 |
|
Astigmatism, CNS hypomyelination |
OMIM:619328 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Thin corpus callosum, CNS hypomyelination |
OMIM:619688 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Microcephaly, Delayed myelination, Pigmentary... |
OMIM:617613 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Developmental cataract, Hypocholesterol... |
OMIM:618810 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, CNS hypomyelination, Lateral ventricle dilatation, Hypoplasia o... |
OMIM:610015 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Diffuse white matter abnormalities, Secondary microcephaly, Leukodystrophy, Microcephaly |
OMIM:616763 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism |
ORPHA:3434 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebr... |
OMIM:616171 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid... |
ORPHA:139471 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Lissencephaly, Polymicrogyria, CNS hypomyelination |
OMIM:614883 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Low anterior hairl... |
OMIM:613153 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Phakomatosis Pigmentovascularis |
|
Cerebral calcification, Generalized hyperpigmentation, Hypopigmented skin patches, Paresthesia, C... |
ORPHA:2875 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum, CNS hypomyelin... |
OMIM:619423 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:89838 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Hypopigmentation of the s... |
ORPHA:177910 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Abnormal periventricular white matter morphology, Leukodystrophy |
OMIM:616370 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Hypopigmentation of the skin |
OMIM:617294 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Seizure |
OMIM:274270 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Ddost-Cdg |
|
Failure to thrive, Primary hypothyroidism, CNS hypomyelination |
ORPHA:300536 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Seizure, Abnormality of retinal pigmentation |
OMIM:251270 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Microcephaly, Sudanophilic leukodystrophy, CNS hypomyelination, Abnormal... |
OMIM:312080 |
Null Syndrome |
|
Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growth, Mild microcephaly, ... |
ORPHA:411511 |
Developmental And Epileptic Encephalopathy 1 |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Focal motor seizure, Erratic myoclonus, Gen... |
OMIM:308350 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, CNS hypomyelination, Hypoplasia of the corpus callosum, Leukodystr... |
OMIM:614381 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Alopecia, Anophthalmia, Seizure |
OMIM:164180 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Microcephaly, Thin corpus callosum, CNS hypomyelination |
OMIM:620023 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Microcephaly, Azoospermia, Agenesis of corpus callosum, Hypopigmentation of the skin |
ORPHA:261519 |
Developmental And Epileptic Encephalopathy 75 |
|
CNS hypomyelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Frontal cortical ... |
OMIM:618437 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cerebral calcification, Cataract, Microcephaly, Hypogonadism... |
ORPHA:1466 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Microcephaly, CNS hypomyelination, Hypoplasia... |
OMIM:616239 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Decreased... |
OMIM:234050 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Hypoplasia of the corpus callosum, Leukoencephalopathy, CNS hypomyelination |
OMIM:615281 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Basal ganglia calcification, Paresthesia |
OMIM:615361 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Microcephaly, CNS hypomyelination, Astigmatism, Leukodystrophy, Pachygyria, Cerebral cortical atr... |
OMIM:619576 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Delayed myelination, Cerebral white matter atrophy |
ORPHA:599373 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Cessation of head growt... |
ORPHA:98794 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Microcephaly, Hypoplasia of the corpus callosum, Cachexia, CNS hypomyelination |
OMIM:618186 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Developmental And Epileptic Encephalopathy 78 |
|
Microcephaly, CNS hypomyelination |
OMIM:618557 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617560 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:618276 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Long eyelashes, Mi... |
ORPHA:48431 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, CNS hypomyelination, Pigmentary retinopathy, Hypoplasia of the corpus cal... |
OMIM:614230 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Cerebral white ... |
ORPHA:3008 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, CNS hypomyelination |
OMIM:613206 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... |
ORPHA:90793 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Ataxia, White eyebrow, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Irregular hyperpigmentation, Hetero... |
ORPHA:2885 |
Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination, Decreased body weight |
OMIM:617926 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Cerebral calcification, Leukoencephalopathy, Leukodystrophy |
OMIM:614561 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Growth delay, Delayed puberty, Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... |
OMIM:615771 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Corneal opacity, Hypermelanotic macule, Cataract, Microcephaly, Abno... |
ORPHA:317 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Cataract, Small for gestational age, Microcephaly, Basal ganglia calcif... |
OMIM:214150 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Abnormal rib morphology, Iris coloboma |
ORPHA:195 |
Adenylosuccinase Deficiency |
|
Microcephaly, Cerebral atrophy, CNS hypomyelination, Inappropriate laughter, Cerebral hypomyelina... |
OMIM:103050 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Cerebral hypomyelination, Delayed myelination |
ORPHA:79097 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot |
OMIM:616570 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Split foot, Cryptorchidism |
OMIM:601349 |
Pierpont Syndrome |
|
Cryptorchidism, Short toe, Microcornea, Short finger, Prominent fingertip pads, Microphthalmia, H... |
ORPHA:487825 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Bilateral microphthal... |
ORPHA:77299 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Short stature, Microcephaly, Inability to walk, Cortical dysplasia... |
ORPHA:356961 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Microcephaly, Simplified gyral pattern, CNS hypomyelination, Hypoplasia of the corpus callosum, P... |
OMIM:615966 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... |
ORPHA:1942 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Cessation of head growth, Secondary microcephaly, Gai... |
ORPHA:98795 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Hypointensity of cerebral white matter on MRI, Leukodystrophy |
OMIM:619196 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Spars... |
OMIM:617193 |
Hartnup Disease |
|
Abnormal urinary color, Ataxia, Short stature, Hypopigmented skin patches, Irregular hyperpigment... |
ORPHA:2116 |
Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy, Cerebral atrophy |
OMIM:608804 |
Pierpont Syndrome |
|
Cryptorchidism, Short toe, Microcornea, Short foot, Short finger, Short palm, Prominent fingertip... |
OMIM:602342 |
Rodrigues Blindness |
|
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia |
OMIM:268320 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Down-sloping shoulders, Astigmatism, Camptodactyly, Microphthalmia, Sparse lateral eyebrow |
OMIM:619694 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Cryptorchidism, Blue irides, Short metatarsal, Advanced ossi... |
OMIM:614613 |
Congenital Primary Aphakia |
|
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... |
ORPHA:83461 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule |
ORPHA:69125 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hypothyroidism, Cerebral atr... |
OMIM:618922 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Delayed CNS myelination, Cataract, Failure to thrive in infancy, Hypoalbuminemia, Microphthalmia |
OMIM:618805 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Cataract, Proximal placement of thumb, Abnormal rib morphology, Abnorma... |
ORPHA:93267 |
Methionine Malabsorption Syndrome |
|
Seizure, White hair, Blue irides |
OMIM:250900 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hypopigmentation of the skin, Microcephaly |
ORPHA:261304 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Growth delay, Reduced renal corticomedullary differentia... |
OMIM:618541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Elevated circulating creatine kinase concentration, Microcephaly, Developmental cataract, Hypopla... |
OMIM:613155 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Secondary microcephaly, Primary microcephaly, Cerebral hypomyelination, Frontal hirsutism, Genera... |
OMIM:612949 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Hyperinsulinem... |
ORPHA:79237 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys, Seizure |
ORPHA:261272 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Ataxia, White eyebrow, Microcephaly, Piebaldism, Hypop... |
ORPHA:2884 |
Developmental And Epileptic Encephalopathy 29 |
|
Microcephaly, Failure to thrive, Cerebral atrophy, CNS hypomyelination |
OMIM:616339 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Cataract |
OMIM:611040 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Leukodystrophy, Microcephaly |
OMIM:612438 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Hypopigmentation of the skin, Cerebral atrophy |
OMIM:269920 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h... |
OMIM:615830 |
Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral at... |
OMIM:612164 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Microcephaly, Cerebral atrophy, Colpocephaly, Hyperlysinuria, Leukodystr... |
OMIM:616034 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop... |
ORPHA:1553 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, Microcephaly, Paroxysmal bursts of laughter, CNS hypomyelination, Thin c... |
OMIM:619580 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots |
OMIM:614082 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt... |
OMIM:619339 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Hawkinsinuria |
|
Sparse hair, Microcephaly, Failure to thrive, Hypertyrosinemia |
OMIM:140350 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, CNS hypomyelination, Hypoplasia of the corpus callosum, Pachygyria, Cerebral... |
OMIM:614922 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Microcephaly, Sacral hypertrichosis, High nonceruloplasmin-bound serum cop... |
ORPHA:457351 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Diffuse cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Hyperintensity of cere... |
ORPHA:438114 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea |
OMIM:202110 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Cryptorchidism, Cerebral atrophy, Choreoathetosis, Hypoplasia of ... |
OMIM:614969 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Sparse hair, Micro... |
OMIM:610756 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Microcephaly, Delayed myelination, Nail dystrophy, Hypoplasia of the corpu... |
OMIM:300887 |
Vogt-Koyanagi-Harada Disease |
|
Short stature, Poliosis, Hypopigmented skin patches, Premature graying of hair, Cognitive impairm... |
ORPHA:3437 |
Piebald Trait With Neurologic Defects |
|
Absent pigmentation of the ventral chest, White forelock, Ataxia |
OMIM:172850 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Hyperintensity of cerebral white matter on MRI, Abnormal corpus callosum morphology, CNS hypomyel... |
ORPHA:280229 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Sandestig-Stefanova Syndrome |
|
Delayed CNS myelination, Laterally extended eyebrow, Small for gestational age, Highly arched eye... |
OMIM:618804 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Hypopigmented skin patches, Abnormal localization of kidney, Delayed puberty |
ORPHA:1825 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Leukoenceph... |
OMIM:615181 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination |
ORPHA:320401 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... |
ORPHA:290 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Cerebral atrop... |
ORPHA:309246 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Brachydactyly |
OMIM:602361 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Subcortical cerebral atrophy... |
ORPHA:79321 |
Congenital Toxoplasmosis |
|
Microphthalmia, Seizure, Abnormality of retinal pigmentation |
ORPHA:858 |
Temtamy Syndrome |
|
Brachydactyly, Short toe, Clinodactyly of the 5th finger, Microphthalmia, Iris coloboma, Genu varum |
ORPHA:1777 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2251 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Metaphyseal widening, Abnorma... |
ORPHA:2788 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Hypoplasia of the pons, Ureteral atresia, Ren... |
ORPHA:1493 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Delayed CNS myelination, Cataract, Small for gestational age, Reduced cerebral white matter volum... |
OMIM:615095 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Secondary microcephaly, Fair hair... |
OMIM:105830 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Pachygyria, Delayed myelination, Low ... |
ORPHA:79324 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Short stature, Proteinuria, Microcephal... |
OMIM:251300 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Leukodystrophy, Hypomyelinating, 17 |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Hirsutism |
OMIM:618006 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, Microcephaly, Cerebral atrophy, Leukodystrophy, Hypothyroidism, Thin corpus callosum |
OMIM:619851 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Microcephaly, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:148820 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Small for gestational age, Cataract, Microcephaly, Fine hair, Microc... |
OMIM:601675 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Abnormal myelination, Cereb... |
ORPHA:280210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Kaufman Oculocerebrofacial Syndrome |
|
Microcephaly, Sparse eyebrow, Microcornea, Astigmatism, Hypoplasia of the corpus callosum, Hypoch... |
OMIM:244450 |
Cystinosis, Nephropathic |
|
Cerebral calcification, Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndro... |
OMIM:219800 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,... |
ORPHA:171680 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ne... |
ORPHA:35173 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Trichothiodystrophy 3, Photosensitive |
|
Delayed CNS myelination, Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger ta... |
OMIM:616395 |
Frontonasal Dysplasia 1 |
|
Cataract, Postaxial hand polydactyly, Widow's peak, Radial deviation of finger, Camptodactyly, Mi... |
OMIM:136760 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Microcephaly, Cachexia, CNS hypomyelination |
ORPHA:300605 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis... |
ORPHA:999 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Elevated circulating creatine kinase concentration, Sparse eyebrow, Secondary microcephaly, Hypop... |
ORPHA:496641 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Abnormally large glob... |
OMIM:615249 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Leukodystrophy, Childhood-Onset, Remitting |
|
Abnormal cerebral white matter morphology, Leukodystrophy |
OMIM:619864 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Seizure |
OMIM:613730 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Abnormal pelvic girdle bone... |
OMIM:157900 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Leukodystrophy, Hypomyelinating, 12 |
|
Microcephaly, Delayed myelination, Secondary microcephaly, Hypoplasia of the corpus callosum, Cer... |
OMIM:616683 |
Retinal Dystrophy With Leukodystrophy |
|
Progressive microcephaly, CNS hypomyelination |
OMIM:618863 |
Porphyria Variegata |
|
Somatic sensory dysfunction, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased... |
ORPHA:79473 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Combined Saposin Deficiency |
|
CNS demyelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus cal... |
OMIM:611721 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Decreased serum insulin-like growth factor 1, Short stature, Elevated circu... |
OMIM:608747 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Cerebral calcification, Microcephaly, Leukoencephalopathy, Abnormal CNS myelination, Focal white ... |
OMIM:612951 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Microcephaly, Low anterior hairline, Cerebral atrophy, Developmental cataract, Lateral ... |
OMIM:614219 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Seizure, Highly arched eyebrow |
OMIM:614583 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Cerebral atrophy, CNS... |
OMIM:615356 |
Menkes Disease |
|
Intrauterine growth retardation, Short stature, Hypopigmentation of the skin, Microcephaly |
OMIM:309400 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Unilateral cryptorchidism, Toe syndactyly, Sandal gap, Abnormal eyelash morphology,... |
OMIM:206920 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Warburg Micro Syndrome 3 |
|
Cataract, Microcephaly, Low anterior hairline, Developmental cataract, Microcornea, Shallow anter... |
OMIM:614222 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Abnormal cer... |
OMIM:614877 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Short stature, Proteinu... |
ORPHA:2715 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body w... |
OMIM:614833 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, Dysplast... |
OMIM:619955 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Leukodys... |
ORPHA:3455 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Cerebral atrophy, Hyperglycinemia, Leukodystrophy, Hypoplasia of the corpus callosu... |
OMIM:615330 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Abnormality of skin pigmentation, Microphthalmia, Failure to thrive, Polymicrogyria, Hy... |
OMIM:612379 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe... |
ORPHA:352731 |
Bresek Syndrome |
|
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:85284 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Aplasia/Hypoplasia of the corpus callosum, Abnormal cornea morpholog... |
ORPHA:2611 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microcephal... |
ORPHA:370959 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Increased circulating very long-chain fatty ... |
OMIM:617916 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Tyrosinemia, Type Ii |
|
Hypertyrosinemia, Herpetiform corneal ulceration |
OMIM:276600 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Fucosidosis |
|
Cerebral atrophy, Tortuosity of conjunctival vessels, CNS hypomyelination, Failure to thrive, Thi... |
OMIM:230000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Ataxia, Short stature, White hair, Ocular albinism, Aplasia/Hyp... |
ORPHA:2720 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... |
OMIM:229200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Temtamy Syndrome |
|
Highly arched eyebrow, Lens luxation, Ectopia lentis, Thick corpus callosum, Microphthalmia, Agen... |
OMIM:218340 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopi... |
OMIM:615877 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity |
OMIM:620195 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cataract, Small for gestational age, Decreased response to growth hormone stimulation test, Prema... |
ORPHA:268261 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cataract, Elevated circulating creatine kinase concentration, Buphthalmos... |
OMIM:616538 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Microphthalmia, Cavu... |
OMIM:617306 |
Megalocornea |
|
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... |
OMIM:309300 |
Walker-Warburg Syndrome |
|
Anophthalmia, Corneal opacity, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly... |
ORPHA:899 |
Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contrac... |
ORPHA:2712 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Abnormal hair morphology, Hyperornithinemia, Aminoaciduria, Subcapsular cataract |
ORPHA:414 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail p... |
OMIM:308300 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Seizure |
OMIM:602501 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Failure to thrive, ... |
ORPHA:14 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... |
ORPHA:98754 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Severe short stature, Hypopigmented skin patches |
ORPHA:3239 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Op... |
OMIM:609053 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Short metacarpal, Cataract |
ORPHA:627 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypogonadotropic hypogonadism, Im... |
OMIM:176270 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Supernumerary nipple, Highly arched eyebrow, Shallow anterior chamber, Small nail, Cerebral hypom... |
ORPHA:247262 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Microcephaly, Myopic astigmatism, Simplified gyral pattern, Microcorne... |
OMIM:152950 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Localized Epidermolysis Bullosa Simplex |
|
Paresthesia, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Low anterior hairline, Developmental cataract, Microcornea, Secondary... |
OMIM:615663 |
Dpagt1-Cdg |
|
Microcephaly, CNS hypomyelination, Developmental cataract, Astigmatism, Hypoplasia of the corpus ... |
ORPHA:86309 |
Marbach-Rustad Progeroid Syndrome |
|
Hyperintensity of cerebral white matter on MRI, Microcephaly, CNS hypomyelination |
OMIM:619322 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... |
ORPHA:98793 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, CNS hypomyelination |
ORPHA:309155 |
Dubowitz Syndrome |
|
Sparse scalp hair, Microcephaly, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Meg... |
OMIM:223370 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:477673 |
Galactosemia I |
|
Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Aminoaciduria,... |
OMIM:230400 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... |
ORPHA:177904 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Limbal dermoid, Microcornea, Hypoplasia of the corpus callosum, Micro... |
ORPHA:1791 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Lissencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:1528 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, Microcephaly, Cryptorchidism, Spotty hypopigmentation, Growth delay, Decreased tes... |
ORPHA:1867 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Impaired temperature sens... |
ORPHA:177901 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Dysplastic corpus callosum, Developmental cataract, Abnormality of the frontal hai... |
ORPHA:557003 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microcorn... |
ORPHA:3301 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Type ... |
ORPHA:100 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Cerebral dysmyelination, Microcephaly, Inability to walk, Delayed menar... |
ORPHA:72 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
CNS hypomyelination, Leukodystrophy, Hyperintensity of cerebral white matter on MRI, Polymicrogyr... |
OMIM:619708 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Hypoplasia of the corpus callo... |
OMIM:618193 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Cryptorchidism, Low anterior hairline, Developmental cataract, Microco... |
OMIM:614225 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Microcephaly, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:300523 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, 4-5 finge... |
OMIM:257850 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:77298 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Macrocephaly, Cerebral atrophy, Microcephaly |
OMIM:300337 |
Martsolf Syndrome 1 |
|
Short metacarpal, Cataract, Hypogonadotropic hypogonadism, Metatarsus adductus, Cryptorchidism, S... |
OMIM:212720 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Highly arched eyebrow, Microcephaly, Low posterior hairline, Lissencephaly, Mi... |
OMIM:243310 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... |
ORPHA:2399 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Decrease... |
ORPHA:739 |
Fanconi Anemia, Complementation Group S |
|
Proximal placement of thumb, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian car... |
OMIM:617883 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Abnormal cerebral white matter morphology, Small for gestational age, Hypoplasia of the corpus ca... |
OMIM:614501 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination, Obesity, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Rocker bottom foot, Adducted thumb |
ORPHA:89844 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Microcornea, Premature graying of hair, Short palm, Sparse hair, Abse... |
OMIM:268400 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize... |
ORPHA:158681 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Short stature, Horseshoe kidney, Hemimegalencephaly, Growth delay, Hypopigment... |
OMIM:163200 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior... |
OMIM:221900 |
Ruvalcaba Syndrome |
|
Microcephaly, Cryptorchidism, Hypopigmented skin patches, Abnormal localization of kidney, Hematu... |
ORPHA:3121 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, CNS hypomyelina... |
OMIM:619306 |
Bloom Syndrome |
|
Microcephaly, Postnatal growth retardation, Cryptorchidism, Decreased fertility in females, Spott... |
OMIM:210900 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Delayed CNS myelination, Microcephaly, CNS hypomyelination, Lateral ventricle dilatation, Hypopla... |
OMIM:618367 |
Rere-Related Neurodevelopmental Syndrome |
|
CNS demyelination, Astigmatism, Hypoplasia of the corpus callosum, Peters anomaly, Microphthalmia... |
ORPHA:494344 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, CNS demyelination, Leukodystrophy |
OMIM:264470 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Aminoaciduria, Failure to thrive, Microcephaly |
OMIM:604273 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Mi... |
ORPHA:85194 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Iris hypopigmenta... |
ORPHA:79477 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ... |
ORPHA:2839 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentati... |
ORPHA:90354 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... |
ORPHA:163966 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:2510 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Mi... |
OMIM:618727 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Sparse hair, Failure to thrive |
OMIM:620001 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypergonadotropic hypogonadism, Microcephaly, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, ... |
OMIM:212065 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal... |
OMIM:616854 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Microcephaly, Basal ganglia calcification, Pigmentary retinopathy, Abnormal CNS myelina... |
OMIM:610651 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes |
OMIM:613456 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism |
OMIM:619318 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Corneal opacity, Thick hair, Dysplastic corpus callosum, Abnormal cornea m... |
ORPHA:357058 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Basal ganglia calcification, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:612462 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri... |
OMIM:619737 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Hypopigmented skin patch... |
ORPHA:2115 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
CNS hypomyelination |
OMIM:618527 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Cl... |
ORPHA:251014 |
Cousin Syndrome |
|
Hypoplastic scapulae, Dislocation of the femoral head, Hypoplastic ischia, 4-5 toe syndactyly, Hu... |
OMIM:260660 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Megalencephaly, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Gait ... |
ORPHA:457485 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cerebral calcification, Cataract, Decreased circulating parathyroid hormone l... |
OMIM:146200 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Sclerocornea, Cortical dysplasia, Porencephalic cyst, Hypopla... |
OMIM:613001 |
Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, Finger sy... |
ORPHA:464 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Primary ... |
ORPHA:398069 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... |
ORPHA:65759 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Cataract, Alopecia, Hypoplastic fingernail, Absent toe, Split h... |
ORPHA:974 |
Cohen Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Arachnodactyly, Sandal gap, Thick hair, T... |
ORPHA:193 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Coxa valga, Flat acetabular roof, Flattened epiphysis, Abnormal femoral neck/head morph... |
ORPHA:163649 |
Nance-Horan Syndrome |
|
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ... |
OMIM:302350 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Leukodystrophy |
OMIM:613163 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Abnormality of the subungual region, Developmental cataract, Clubbing o... |
ORPHA:335 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Thick eyebrow |
OMIM:301018 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch... |
OMIM:160980 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Widow's peak, Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Hypoplasia of the corp... |
ORPHA:370997 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus cal... |
OMIM:616900 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Slender long bone, Congenital adrenal hyperplasia, Increased serum testosterone... |
ORPHA:96181 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Griscelli Syndrome |
|
Ataxia, Short stature, Silver-gray hair, White hair, Hypopigmented skin patches, Premature grayin... |
ORPHA:381 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination, Confluent hyperintensity of cerebral white matter on MRI |
ORPHA:280219 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity |
ORPHA:3191 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcephaly, Microphthalmia, Cerebral atrophy, Microcornea, Hypoplasia of the corpus c... |
OMIM:616449 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Seizure |
ORPHA:1438 |
Hengel-Maroofian-Schols Syndrome |
|
Microcephaly, Synophrys, Cerebral atrophy, Abnormal CNS myelination, Thin corpus callosum, Thick ... |
OMIM:619641 |
Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinopathy, Microphthalmia |
OMIM:193220 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Cryptorchidism, Sparse hair, Microphthalmia, Decreased testicular size |
OMIM:619185 |
Leukodystrophy, Hypomyelinating, 16 |
|
Delayed CNS myelination, Failure to thrive, Hypoplasia of the corpus callosum, Leukodystrophy |
OMIM:617964 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hyperpigmentation, Spotty hypopigmentation |
ORPHA:79133 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
CNS demyelination, Failure to thrive |
OMIM:618237 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-choleste... |
OMIM:302960 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht... |
ORPHA:91495 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia |
ORPHA:31150 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Hypermethioninemia |
OMIM:250850 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Leukodystrophy |
OMIM:614932 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorc... |
ORPHA:398079 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Cryptorchidi... |
ORPHA:284160 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... |
ORPHA:53271 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Methioninuria, Homocystinuria |
OMIM:236200 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... |
ORPHA:79431 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Seizure |
OMIM:618652 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Short stature, Cryptorchidism, Hypopigmented skin patches, Agenesis of... |
ORPHA:96061 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Delayed CNS myelination, Cataract, Small for gestational age, Microcephaly, Hyperammonemia, Cereb... |
OMIM:615471 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MR... |
ORPHA:206436 |
Spinocerebellar Ataxia 23 |
|
CNS demyelination, Agenesis of corpus callosum |
OMIM:610245 |
Leukodystrophy, Hypomyelinating, 3 |
|
Microcephaly, Corpus callosum atrophy, Sudanophilic leukodystrophy, Diffuse cerebral sclerosis, L... |
OMIM:260600 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Microphthalmia |
ORPHA:228390 |
Frontorhiny |
|
Cataract, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Microphthalmia, Hypopituita... |
ORPHA:391474 |
Xeroderma Pigmentosum |
|
Decreased testicular size, Short stature, Ataxia, Hypermelanotic macule, Microcephaly, Cryptorchi... |
ORPHA:910 |
Sandhoff Disease |
|
CNS hypomyelination |
OMIM:268800 |
Kapur-Toriello Syndrome |
|
Failure to thrive, Dysplastic corpus callosum, Microphthalmia, Iris coloboma, Pachygyria, Polymic... |
ORPHA:2328 |
Hartsfield Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand |
ORPHA:2117 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Simplified gyral pattern |
OMIM:618328 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Hammertoe, Abnormal epiphysis mo... |
ORPHA:773 |
Monosomy 18P |
|
Alopecia, Low posterior hairline, Microphthalmia, Hypothyroidism, Brachydactyly |
ORPHA:1598 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Cryptorchidism, Ulnar bowing, Shortening of all di... |
OMIM:619135 |
Kapur-Toriello Syndrome |
|
Cataract, Overlapping fingers, Camptodactyly of finger, Short thumb, Cryptorchidism, Low posterio... |
OMIM:244300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Delayed CNS myelination, Brittle hair, Cataract, Cerebral atrophy, Aminoaciduri... |
OMIM:124000 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Alg8-Cdg |
|
Hyponatremia, Cataract, Small for gestational age, Leukoencephalopathy, Leukodystrophy, Hypoplasi... |
ORPHA:79325 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Sclerocornea, Hyperpigmented streaks, Lateral ventricle dilatation, M... |
OMIM:300952 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct proli... |
OMIM:611561 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Few cafe-au-lait spots |
OMIM:606744 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior... |
OMIM:612109 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Seizure |
OMIM:614526 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Microcephaly, Leukoencephalopathy, Leukodystrophy, Focal T2 hyperintense basal ganglia lesion, Fa... |
OMIM:618226 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Polydactyly |
OMIM:613885 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Generalized h... |
ORPHA:2221 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Hyperintensity of cerebral white matter on MRI, Leukodystrophy, Microce... |
OMIM:619224 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... |
OMIM:206900 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Abnormality of the kidney, Hypogonadotropic hypogonadism... |
ORPHA:177907 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Delayed CNS myelination, Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Thi... |
OMIM:620269 |
Aicardi-Goutieres Syndrome 5 |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Deep whi... |
OMIM:612952 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Alopecia, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Ectopia le... |
ORPHA:2092 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Pachygyria,... |
OMIM:614643 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral... |
OMIM:607597 |
Canavan Disease |
|
CNS demyelination, Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylas... |
OMIM:271900 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin |
OMIM:601957 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of h... |
ORPHA:369891 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Camptodactyly of finger, Cryptorchidism, Microcornea, Abnormal shoul... |
ORPHA:568 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmi... |
ORPHA:251038 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Decreased ... |
ORPHA:125 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Corpus callosum atrophy, CNS demyelination, Leukoencephalopathy, Abnormal cerebral white matter m... |
OMIM:221820 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Small ha... |
ORPHA:2108 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Microcornea, Microphthalmia, Irregular hyperpigmentation, Generalized hirsutism |
ORPHA:2505 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cerebral calcification, Cataract, Abnormal circulating calcium-phosphate regu... |
ORPHA:2238 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Delayed CNS myelination, Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus ... |
OMIM:614924 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Abnormal circulating carnitine concent... |
ORPHA:431361 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... |
ORPHA:544488 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, T... |
OMIM:601812 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Peters anomaly, Bupht... |
OMIM:613150 |
Leigh Syndrome |
|
Pigmentary retinopathy, CNS demyelination, Focal substantia nigra T2 hyperintensity, Failure to t... |
OMIM:256000 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal hair pattern |
ORPHA:2717 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Neuronal loss in the cerebral cortex, Leukodystrophy, Hyperalaninemia, ... |
OMIM:266150 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Cataract, Optic disc hypoplasia, Broad hallux phalanx,... |
ORPHA:959 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Short stature, Postnatal growth retardation, Cerebellar hy... |
OMIM:616113 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Macroorchidism, C... |
OMIM:618874 |
Cockayne Syndrome B |
|
Dry hair, Small for gestational age, Abnormal peripheral myelination, Microcephaly, Abnormal hair... |
OMIM:133540 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Low anterior hairline, Seizure, Microphthalmia, Febrile seizure (within th... |
ORPHA:404440 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigmentation of hair, Ataxi... |
ORPHA:167 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger, Joint contrac... |
OMIM:618914 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Optic nerve hypopl... |
OMIM:236670 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... |
OMIM:601552 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal ganglia, Cataract, ... |
ORPHA:506 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Sparse eyebrow, Synophrys, Seizure, Microphthalmia, High anterior hairline,... |
OMIM:620098 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Trichothiodystrophy |
|
Ridged nail, Brittle hair, Partial agenesis of the corpus callosum, Microcornea, Conjunctivitis, ... |
ORPHA:33364 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Syndactyly,... |
OMIM:263650 |
Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2584 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Aicardi-Goutieres Syndrome 6 |
|
Cerebral calcification, Leukodystrophy, Microcephaly |
OMIM:615010 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Failure to thrive, Microcephaly, Increased axial length of the globe, Pineal cyst, Hypoplasia of ... |
ORPHA:513456 |
Sjogren-Larsson Syndrome |
|
CNS demyelination, Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camptodactyly of finger,... |
ORPHA:1692 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol... |
OMIM:601707 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulating ferritin conc... |
OMIM:619534 |
Mend Syndrome |
|
Cataract, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation, Abno... |
ORPHA:401973 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Seizure |
OMIM:611961 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, C... |
ORPHA:2719 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukoencephalopathy, Leukodystrophy |
OMIM:618242 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Abnormality of the upper urinary tract |
ORPHA:1807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agyria, Cataract, Hypoplasia of the pyramidal tract, Elevated circulating creatine kinase concent... |
OMIM:253800 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age |
OMIM:620135 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia |
OMIM:276710 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk... |
ORPHA:69087 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Cataract, Microcephaly, Precocious puberty, Partial agenesis of the cor... |
OMIM:270400 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi... |
OMIM:614077 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, Overlapping toe, Cryptorchidism, Hip dysplasia, Prominent fingertip pads, Mi... |
OMIM:618494 |
Dowling-Degos Disease |
|
Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Penile freckling, Hypermelanot... |
ORPHA:79145 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly |
OMIM:120200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Sparse scalp hair, Overlapping fingers, Overlapping toe, Sparse eyebrow, Devia... |
ORPHA:464738 |
Oculodentodigital Dysplasia |
|
Dry hair, Cataract, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hair, Microco... |
OMIM:164200 |
Cockayne Syndrome |
|
Dry hair, Cerebral calcification, Basal ganglia calcification, Lentiglobus, Cerebral dysmyelinati... |
ORPHA:191 |
Intellectual Disability And Myopathy Syndrome |
|
Periventricular white matter hyperintensities, Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Melanocytic nevus, Seizure, Microphthalmia, Irregular hyperpigmentation |
ORPHA:2612 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Partial albinism, Menometrorrhagia, Ocular albinis... |
ORPHA:79430 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Hyperpigmentation of th... |
ORPHA:96253 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Microcephaly, Cerebral atrophy, CNS demyelination, Hyperbilirubinemia, Decreased body weight, Ele... |
OMIM:614886 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ... |
ORPHA:1352 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis... |
OMIM:610758 |
Vici Syndrome |
|
Hypopigmentation of hair, Schizencephaly, Cerebellar vermis hypoplasia, Albinism, Postnatal growt... |
OMIM:242840 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Porphyria Cutanea Tarda |
|
Stage 5 chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Hypopigmentatio... |
ORPHA:101330 |
Frontal Encephalocele |
|
Cerebral calcification, Leukodystrophy, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:1931 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Bile duct proliferation, Polydactyly, Micro... |
OMIM:603194 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Prominent eyelashes, Simplified gyra... |
OMIM:619179 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Hypospadias, Brushfield spots, Hypopigmented skin patches, Cerebral cortical atrophy |
ORPHA:1784 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Abnormal periventricular white matter morphology, Peripheral demyelination |
OMIM:249900 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Small nail, Micropht... |
OMIM:201180 |
Krabbe Disease |
|
CNS demyelination, Diffuse cerebral atrophy, Failure to thrive, Peripheral demyelination |
OMIM:245200 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Leukodystrophy |
OMIM:618225 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Cataract, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination, Microcephaly, Synophrys, Cafe-au-lait spot, Thin... |
ORPHA:364577 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Brittle hair, Os... |
OMIM:305600 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Overlapping toe, Astigmatism, Horizontal eyebrow, Microphthalmia |
OMIM:618571 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Aminoaciduria, Lentiglobus, Hypona... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Short tibia, Squared iliac bones, Preaxial... |
OMIM:616300 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Thick hair, Onychauxis, Precocious puberty, Insulin-resistant diabetes m... |
ORPHA:769 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... |
OMIM:227650 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Testicular neoplasm, Microcephaly, Po... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Fair hair, Hypospadias, Testicular neoplasm, Microcephaly, Po... |
ORPHA:363958 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcornea, Peters anomaly... |
OMIM:243605 |
Crouzon Syndrome |
|
Cerebellar hypoplasia, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Corneal crystals, Pigmentary... |
ORPHA:411629 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
Papillorenal Syndrome |
|
Microphthalmia, Cataract, Elevated circulating creatinine concentration, Lens luxation |
OMIM:120330 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Basal ganglia calcific... |
OMIM:127000 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Hyperconvex fingernails, Hashimoto thyroiditis, Short 5th metacarpal, Hyper... |
ORPHA:881 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract, Adrenal gland agenesis, Hypoplastic pelvis |
OMIM:273395 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin, Microcephaly |
OMIM:620237 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Thrombocytopenia, Leukopenia, Overlapping fingers, Hypoplas... |
OMIM:617053 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short attention span, Broad-based gait, Ataxia, Hypospadias, Microcephaly, Melanocytic nevus, Hem... |
OMIM:619475 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Spotty hypopigmentation, Horseshoe kidney, Macroce... |
OMIM:300860 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Microphthalmia, Bilateral tonic-clonic seizure, Generalized non-mo... |
ORPHA:435638 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Cataract, Optic disc hypoplasia, Sandal gap, Short humerus, A... |
OMIM:607323 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Ataxia, Abnorm... |
ORPHA:636 |
Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b... |
ORPHA:3103 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Hypopl... |
OMIM:184705 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Seizure, Small nail, Microphthalmia |
OMIM:612530 |
Pitt-Hopkins Syndrome |
|
Ataxia, Microcephaly, Postnatal growth retardation, Cryptorchidism, Hypopigmented skin patches, G... |
ORPHA:2896 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast... |
ORPHA:488627 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Cryptorchidism, Postaxial... |
ORPHA:3380 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebral atrophy, Progressive microcephaly, Cerebral calcification, Leukodystrophy |
OMIM:610333 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Synophrys, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Cereb... |
ORPHA:447997 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Short foot, Hand polydactyly, Bro... |
ORPHA:250989 |
Hydrolethalus |
|
Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
Basal Cell Nevus Syndrome 1 |
|
Cataract, Ovarian fibroma, Down-sloping shoulders, Polydactyly, Short ribs, Bifid ribs, Short dis... |
OMIM:109400 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Metaphyseal wideni... |
OMIM:234100 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin |
ORPHA:35125 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Heart And Brain Malformation Syndrome |
|
Delayed CNS myelination, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Micro... |
OMIM:616920 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Microcephaly, Disproportionate short stature, Hypopigmented skin patches, Attention deficit hyper... |
ORPHA:2637 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Cockayne Syndrome Type 3 |
|
Dry hair, Cerebral white matter atrophy, Cataract, Basal ganglia calcification, Premature graying... |
ORPHA:90324 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
CNS demyelination, Delayed CNS myelination, Partial agenesis of the corpus callosum, Thin corpus ... |
OMIM:619653 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di... |
ORPHA:233 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Short stature, Cryptorchidism, Growth delay, Hypogonadism, Atten... |
ORPHA:221008 |
Mucolipidosis Ii Alpha/Beta |
|
Growth delay, Severe postnatal growth retardation, Thin corpus callosum, Mucopolysacchariduria, T... |
OMIM:252500 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... |
OMIM:603467 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Hepatoerythropoietic Porphyria |
|
Red-brown urine, Red urine, Paresthesia, Hypopigmentation of the skin, Purple urine, Hyperpigment... |
ORPHA:95159 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microph... |
OMIM:600901 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
3Q29 Microdeletion Syndrome |
|
Cataract, Microcephaly, Abnormality of skin pigmentation, Microphthalmia, Failure to thrive |
ORPHA:65286 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Long fingers, Hypoplastic nipples |
OMIM:156610 |
Porphyria, Congenital Erythropoietic |
|
Short stature, Red urine, Hypopigmentation of the skin, Pink urine, Hyperpigmentation of the skin |
OMIM:263700 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Small hand, Leukocoria, Short foot, Microphthalmia, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Slow-growing hair, Rocker bottom foot, Highly arched eyebrow, Metatarsus adductus, Lo... |
OMIM:272950 |
Gapo Syndrome |
|
Short stature, Dysmenorrhea, Hypopigmented skin patches, Nephrolithiasis, Oligozoospermia, Growth... |
ORPHA:2067 |
Mosaic Trisomy 9 |
|
Corneal opacity, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism, Hip dislocation, Fi... |
ORPHA:99776 |
Jacobsen Syndrome |
|
Missing ribs, Abnormal eyelash morphology, Cryptorchidism, Microcornea, Macular hypoplasia, Clino... |
OMIM:147791 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks |
ORPHA:254478 |
Doors Syndrome |
|
11 pairs of ribs, Cataract, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal fingerna... |
ORPHA:79500 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Pancreatic islet-cell hyp... |
OMIM:276700 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia of the corp... |
OMIM:618569 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c... |
ORPHA:42775 |
Myhre Syndrome |
|
Thick eyebrow, Cataract, Overlapping toe, Cryptorchidism, Short toe, 2-3 toe syndactyly, Fine hai... |
OMIM:139210 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Short stature, Galactosuria, Cognitive impairment, Intrauterine growth retardation, ... |
OMIM:222470 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Absent septum pellucidum, Sclerocornea, Microcephaly, Pigmentary retinopathy, Colpoceph... |
OMIM:309801 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypopigmented skin patches |
ORPHA:1295 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndact... |
OMIM:264480 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h... |
OMIM:613451 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypogonadism, Hypopigmented skin patches |
ORPHA:3143 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Aplasia/Hypoplasia of the corpus callosum, Cerebellar... |
ORPHA:1647 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Microphthalmia, Annular pancreas |
ORPHA:2470 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly |
OMIM:611134 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Microcephaly, Abnormality of hair texture, Aplasia/Hypoplasia... |
ORPHA:96169 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of the hairline |
OMIM:248450 |
Microcephaly-Micromelia Syndrome |
|
Absent thumb, Absent radius, Missing ribs, Short tibia, Humeroradial synostosis, Forearm undergro... |
OMIM:251230 |
Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of skin pigmentation, Triphalangeal thumb, Clinodactyly of... |
ORPHA:84 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Missing ribs, Precocious puberty, Rib fusion, Small hand, Ab... |
ORPHA:50 |
Ohdo Syndrome, X-Linked |
|
Overlapping toe, Sparse eyebrow, Short thumb, Cryptorchidism, Long thumb, High anterior hairline,... |
OMIM:300895 |
Peroxisome Biogenesis Disorder 6B |
|
Abnormal cerebral white matter morphology, Delayed menarche, Elevated circulating phytanic acid c... |
OMIM:614871 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypopigmented skin patches, Hematuria, Tubuloin... |
ORPHA:183 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoalbuminemia, Lis... |
OMIM:617729 |
Aicardi Syndrome |
|
Delayed CNS myelination, Cataract, Microcephaly, Precocious puberty, Partial agenesis of the corp... |
OMIM:304050 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Growth delay... |
ORPHA:79396 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Schilder Disease |
|
Hyperintensity of cerebral white matter on MRI, CNS demyelination |
ORPHA:59298 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Tapered finger, Short thumb, Cryptorchidism, Cutaneous syndactyly, Camptodactyly... |
OMIM:619148 |
Orofaciodigital Syndrome Xiv |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, CNS hypomyelinat... |
OMIM:615948 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Thick eyebrow, Leukodystrophy |
OMIM:617762 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed CNS myelination, Secondary microcephaly, Leukodystrophy, Abnormal periventricular white m... |
OMIM:616881 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u... |
OMIM:153400 |
Marden-Walker Syndrome |
|
Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Camptodactyly, Microphthalmia |
OMIM:248700 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Microcephaly, Ocular albinism, Generalized hypopigmenta... |
OMIM:608233 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, Ataxia, White eyebrow, Cerebral dysmyelination, Cryptorchidism, Hypopigmented sk... |
OMIM:609136 |
Cowden Syndrome |
|
Abnormal penis morphology, Short stature, Ataxia, Abnormality of the kidney, Hypopigmented skin p... |
ORPHA:201 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Abnormal circulating fatty-acid concentration, Primary adre... |
ORPHA:139396 |
Mismatch Repair Cancer Syndrome 1 |
|
Multiple cafe-au-lait spots, Agenesis of corpus callosum, Axillary freckling, Hypopigmentation of... |
OMIM:276300 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic b... |
OMIM:617925 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... |
ORPHA:1969 |
Meckel Syndrome |
|
Bowing of the long bones, Cataract, Anophthalmia, Pancreatic fibrosis, Sclerocornea, Pancreatic c... |
ORPHA:564 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract, Microcephaly |
ORPHA:891 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcephaly, Microcoria, Uveal ectropi... |
OMIM:609049 |
Atelis Syndrome 2 |
|
Microcephaly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, D... |
OMIM:620185 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Microcephaly, Polymicrogyria, Hyperammonemia, Leukodystrophy |
OMIM:610678 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Diabetes insipidus, Microcephaly, Basal ganglia cal... |
OMIM:225750 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Cli... |
OMIM:619539 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthalmia, Iris coloboma, Bro... |
ORPHA:1236 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:618688 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Generalized hirsutism |
ORPHA:1915 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Abnorm... |
ORPHA:3186 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Nonketotic hyperglycinemia, Leukodystrophy |
ORPHA:401866 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Anophthalmia, Highly arched eyebro... |
ORPHA:2162 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Congenital Erythropoietic Porphyria |
|
Red-brown urine, Porphyrinuria, Increased urinary porphobilinogen, Paresthesia, Hypopigmentation ... |
ORPHA:79277 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microcornea, Microphthalmia |
ORPHA:3412 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia, Hypoplasia of the ovary, I... |
OMIM:619321 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Cryptorchidism, Short... |
OMIM:229850 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Ke... |
OMIM:269200 |
Leukodystrophy, Hypomyelinating, 9 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Leukodystrophy, Microcephaly |
OMIM:616140 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microph... |
OMIM:227645 |
Phace Association |
|
Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua... |
OMIM:606519 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Hypopigmentation of the skin, Macrocephaly |
OMIM:301066 |
Momo Syndrome |
|
Hyperconvex nail, Abnormality of the thyroid gland, Bilateral microphthalmos, Femoral bowing, Sho... |
ORPHA:2563 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypopigmentation of hair, Hypospadias, Bilateral renal dyspla... |
OMIM:619488 |
Fryns Syndrome |
|
Hypoplastic fingernail, Corneal opacity, Cryptorchidism, Clinodactyly of the 5th finger, Micropht... |
ORPHA:2059 |
Abetalipoproteinemia |
|
CNS demyelination, Abetalipoproteinemia, Peripheral demyelination |
OMIM:200100 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Absent thumb |
OMIM:617244 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Basal ganglia calcification, Bilateral microphthalmos, Developmental cataract, Hyperphosphatemia,... |
ORPHA:93325 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Broad hallux, Optic nerve hypoplasia, Overlapping toe, Preaxial h... |
ORPHA:508498 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Corneal opacity, Elevated circulating creatine kinase concentration, Cortical dys... |
OMIM:175780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hyperalaninemia, Hyperammonemia, Leukodystrophy |
OMIM:619051 |
Short Stature With Microcephaly And Distinctive Facies |
|
Severe short stature, Microcephaly, Spotty hypopigmentation, Hypoplasia of the corpus callosum, S... |
OMIM:615789 |
Leukodystrophy, Hypomyelinating, 4 |
|
Secondary microcephaly, Leukodystrophy |
OMIM:612233 |
Rothmund-Thomson Syndrome |
|
Hypopigmentation of the skin, Short stature, Infertility, Reticular hyperpigmentation |
ORPHA:2909 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Microcephaly, Postnatal growth retardation, Disproportionate short stature, Areas of... |
OMIM:210720 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Abnormal CNS myelination |
OMIM:619053 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Delayed CNS myelination, Corneal opacity, Microcephaly, Synophrys, Cafe-au-lait spot, Thin eyebro... |
OMIM:608670 |
X-Linked Agammaglobulinemia |
|
Short stature, Hypopigmented skin patches |
ORPHA:47 |
Marchiafava-Bignami Disease |
|
CNS demyelination, Abnormal basal ganglia morphology, Abnormal corpus callosum morphology |
ORPHA:221074 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Preaxia... |
OMIM:227646 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic corpus callosum, Lo... |
OMIM:617281 |
Joubert Syndrome 14 |
|
Highly arched eyebrow, Microphthalmia, Postaxial polydactyly |
OMIM:614424 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Corneal opacity, Absent... |
ORPHA:2556 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Cerebral atrophy, CNS demyelination, Abnormal periventricular white matter morph... |
OMIM:272200 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndactyly, Phthisis bu... |
OMIM:300166 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Delayed CNS myelination, Microcephaly, Peters anomaly, Widow's peak, Hypoplastic anterior commiss... |
OMIM:616975 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Abnormality o... |
ORPHA:1052 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Cataract, Tapered finger, Cryptorchidism, Small hand, Hip dysplasia, Sparse hai... |
OMIM:620005 |
Hurler Syndrome |
|
Opacification of the corneal stroma, Abnormal CNS myelination, Corneal opacity, Hirsutism |
OMIM:607014 |
Treacher-Collins Syndrome |
|
Cataract, Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Abnormality of the a... |
ORPHA:861 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Failure to thrive, Cerebral calcification, Small for gestational age, Mic... |
OMIM:620024 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Abnormal eyelash morphology, Abn... |
ORPHA:2526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Microcephaly, Pachygyria, Aplasia/H... |
OMIM:253280 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Delayed CNS myelination, Cataract, Small for gestational age, Hype... |
OMIM:613406 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Corpus callosum atrophy, Diffuse leukoencephalopathy, Symmetric peripheral demyelination, Leukody... |
OMIM:169500 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Female hypogonadism, Toe syndactyly, Scleroco... |
OMIM:607932 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... |
ORPHA:2538 |
Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination, Subcortical cerebral atrophy, Steatorrhea |
ORPHA:440713 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Tapered finger, Cryptorchidism, Long fingers, Synophrys, Low anterior hairline, 2-3 toe syndactyl... |
OMIM:616734 |
Monosomy 9P |
|
Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones, C... |
ORPHA:261112 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Mesoaxial polydactyly, Radial bowing, Precocious pub... |
ORPHA:672 |
Rothmund-Thomson Syndrome Type 2 |
|
Short stature, Cryptorchidism, Growth delay, Hypopigmentation of the skin, Hyperpigmentation of t... |
ORPHA:221016 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypogonadism, Microce... |
OMIM:129900 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Leukodystrophy |
ORPHA:444013 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Synophrys, Primary amenorrhea, Microphth... |
OMIM:603457 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Absent nipple, Broad hallux, Aplasia of the thymus, Sparse eyebrow, Congenita... |
OMIM:620186 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Ataxia, Hypopigmented skin patches, Premature graying of hair, Hypogona... |
ORPHA:163746 |
Lichen Planopilaris |
|
Hypopigmented skin patches |
ORPHA:525 |
Mosaic Trisomy 20 |
|
Abnormality of the kidney, Cryptorchidism, Depigmentation/hyperpigmentation of skin, Horseshoe ki... |
ORPHA:1724 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinoda... |
ORPHA:306542 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Microphthalmia, Megalocornea, Failure to thrive, Agenesis of corpus callosum, Co... |
ORPHA:137675 |
Norrie Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Cachexia, Microcephaly, Scler... |
ORPHA:649 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hyperglycinemia, Leukodystrophy |
OMIM:614299 |
Cerebrofacioarticular Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Absence of pubertal development, Hypoplasia of the corp... |
ORPHA:314679 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Hypopigmentation of hair, Cataract, Sclerocornea, Proximal placement of thumb,... |
ORPHA:818 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypo... |
OMIM:604292 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor... |
ORPHA:1974 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Microcephaly, Leukoencephalopathy, Leukodystrophy, F... |
ORPHA:2609 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Foot polydactyly, Short palm, Microphthalmia, Iris coloboma |
ORPHA:268249 |
Monosomy 9Q22.3 |
|
Cataract, Ovarian fibroma, Abnormal rib morphology, Polydactyly, Microphthalmia |
ORPHA:77301 |
Sotos Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Increased head circumference, Vesicoureteral ... |
ORPHA:821 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Dyskeratosis Congenita |
|
Cerebral calcification, Short stature, Displacement of the urethral meatus, Hypermelanotic macule... |
ORPHA:1775 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, High anterior hairline |
ORPHA:363444 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Sparse hair, Failure to ... |
OMIM:151050 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Adult Krabbe Disease |
|
Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology, CNS demyelination, ... |
ORPHA:206448 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Cerebral calcification, Leukoencephalopathy, Fine hair, Premature graying of hair, Nail dystrophy... |
OMIM:612199 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Clinodactyly of the 5th finger, Mic... |
ORPHA:1587 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Synophrys, Broad medial eyebrow, Obesity, Long eyelashes, Horizontal ... |
OMIM:619426 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Short stature, Renal hypoplasia, Polycystic kidney dysplasia, Intrauter... |
ORPHA:84064 |
Joubert Syndrome 2 |
|
Microphthalmia, Seizure |
OMIM:608091 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Microphthalmia, Abnormality of th... |
ORPHA:2166 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas... |
ORPHA:141099 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism |
ORPHA:2728 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Microcephaly, Cortical dysplasia, Bilateral microphthalmos, Simplified gy... |
ORPHA:468631 |
Localized Scleroderma |
|
Hypopigmented skin patches, Abnormality of the kidney, Hyperpigmentation of the skin, Vitiligo |
ORPHA:90289 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormal CNS myelination |
ORPHA:206443 |
Tetragametic Chimerism |
|
Cryptorchidism, Hypopigmented skin patches, Perineal hypospadias, Micropenis, Abnormal testis mor... |
ORPHA:199310 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Absent anterior cham... |
OMIM:259770 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma |
OMIM:229400 |
Holoprosencephaly 7 |
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Microcephaly, Synophrys, Partial agenesis of the corpus callosum, Panhypopituitarism, Bilateral m... |
OMIM:610828 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Posterior embryotoxon, Hyperthyroidism, Cataract, Microcephaly, Hypopigmented... |
ORPHA:567 |
Eec Syndrome |
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Short stature, Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Ge... |
ORPHA:1896 |
De Sanctis-Cacchione Syndrome |
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Hypermelanotic macule, Microcephaly, Keratitis, Basal ganglia calcification, Cerebral atrophy, Co... |
OMIM:278800 |
Chromosome 13Q14 Deletion Syndrome |
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Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation, Clinodactyly of the 5th f... |
OMIM:613884 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Cerebral atrophy, Cerebral edema, Leukodystrophy, Microcephaly |
OMIM:614462 |
X-Linked Intellectual Disability, Snyder Type |
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Short stature, Hypospadias, Ectopic kidney, Megalencephaly, Inability to walk, Cryptorchidism, Un... |
ORPHA:3063 |
Meckel Syndrome, Type 1 |
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Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Adrenal hyp... |
OMIM:249000 |
Charge Syndrome |
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Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Abnormal tibi... |
ORPHA:138 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Cerebral calcification, Short stature, Hypermelanotic macule, Hypopigmented skin patches on arms,... |
OMIM:607944 |
Acute Disseminated Encephalomyelitis |
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Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal basal... |
ORPHA:83597 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus, Microphthalmia, Low anterior hairline, Cutaneous syndactyly |
OMIM:617666 |
Systemic Sclerosis |
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Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... |
ORPHA:90291 |
Diffuse Cutaneous Mastocytosis |
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Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79456 |
Genitourinary And/Or Brain Malformation Syndrome |
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Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Astigmatism, Se... |
OMIM:618820 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Brachydactyly, Cataract, Overlapping toe, Sutural cataract, Broad hallux, Mesoaxial foot polydact... |
OMIM:612474 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Cataract, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly, Partia... |
ORPHA:857 |
Charge Syndrome |
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Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Han... |
OMIM:214800 |
Hereditary Acrokeratotic Poikiloderma |
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Short stature, Abnormal preputium morphology, Abnormality of the urethra, Hypopigmented skin patc... |
ORPHA:2907 |
Zttk Syndrome |
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Curly hair, Periventricular leukomalacia, Sparse eyebrow, Dysplastic corpus callosum, Abnormal ce... |
OMIM:617140 |
Renpenning Syndrome 1 |
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Cataract, Brittle hair, Sparse hair, Synostosis of the proximal phalanx of the thumb with the 1st... |
OMIM:309500 |
Mowat-Wilson Syndrome |
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Cataract, Supernumerary nipple, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, La... |
OMIM:235730 |
Fontaine Progeroid Syndrome |
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Sparse scalp hair, Failure to thrive, Absent nipple, Small for gestational age, Microcephaly, Syn... |
OMIM:612289 |
Immunodeficiency 23 |
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Abnormal CNS myelination, Failure to thrive |
OMIM:615816 |
Adams-Oliver Syndrome 1 |
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Alopecia, Supernumerary nipple, Seizure, Small nail, Microphthalmia |
OMIM:100300 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Proximal placement of thumb, Supernumerary nipple, Cryptorchidism, Short ... |
OMIM:113620 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Overweight, Lateral ventricle dilatation, Leukodystrophy, Anterior polar cataract, Failure to thrive |
OMIM:619575 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci |
ORPHA:309256 |
Roberts-Sc Phocomelia Syndrome |
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Syndactyly, Hypoplasia of the ulna, Cataract, Corneal opacity, Short humerus, Aplasia of the ulna... |
OMIM:268300 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Highly arched eyebrow, ... |
OMIM:303600 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Absent eyelashes, Cryptorchidism... |
OMIM:256520 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci |
ORPHA:309263 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Cat Eye Syndrome |
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Absent radius, Microphthalmia, Iris coloboma |
OMIM:115470 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Anterior pituitary hypoplasia, Supernumerary nipple, Shyness, Dysplastic corpus callosum, Hypopla... |
ORPHA:466791 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Diabetes mellitus, Microcephaly, Developmental glaucoma, Porencephalic cy... |
ORPHA:51 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Hypospadias, Hypoplasia of the pons, Cryptorchidis... |
ORPHA:163956 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Failure to thrive in infancy, Optic nerve hypoplasia, Sparse eyebrow, Dysplastic corp... |
ORPHA:500150 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes,... |
OMIM:219000 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Inappropriate antidiuretic hormone secretion, Failure to thrive in infancy, Leukodystrophy, Micro... |
ORPHA:79124 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalopathy, Leukodystrophy, Foc... |
OMIM:252010 |
Glycogen Storage Disease Ii |
|
Abnormal CNS myelination, Increased circulating NT-proBNP concentration, Elevated circulating cre... |
OMIM:232300 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Papillon-Lefèvre Syndrome |
|
Cerebral calcification, Hypopigmented skin patches |
ORPHA:678 |
Fanconi Anemia, Complementation Group L |
|
Absent radius, Microphthalmia, Cafe-au-lait spot, Absent thumb |
OMIM:614083 |
Sarcoidosis |
|
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephri... |
ORPHA:797 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hypopigmented skin patches |
ORPHA:53715 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormal social behavior, Leukodystrophy, Punctate periventricular T2 hyperintense foci |
ORPHA:309271 |
Atypical Werner Syndrome |
|
Renal neoplasm, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Short statu... |
ORPHA:79474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Highly arched eyebrow, Microcephaly, Partial agenesis of the corpus ca... |
OMIM:220111 |
Secondary Syringomyelia |
|
Fatigable weakness, CNS demyelination |
ORPHA:99857 |
Menkes Disease |
|
Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Sparse hair, Woolly hair, ... |
ORPHA:565 |
Niemann-Pick Disease Type C |
|
Cerebral atrophy, Abnormal CNS myelination, Hypoplasia of the corpus callosum, Leukodystrophy, Fr... |
ORPHA:646 |
Cerebrotendinous Xanthomatosis |
|
Abnormal globus pallidus morphology, Hypermyelinated retinal nerve fibers, Hyperintensity of cere... |
ORPHA:909 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Ectopic posterior pituitary, Congenital hip dislocation, Short femur, Optic nerve hypop... |
ORPHA:508488 |
Mend Syndrome |
|
Short stature, Cryptorchidism, Spotty hypopigmentation, Crossed fused renal ectopia, Dandy-Walker... |
OMIM:300960 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Large basal ganglia, Microcornea, Agenesis of corpus callosum, Iris co... |
ORPHA:261552 |
Pallister-Killian Syndrome |
|
Relative macrocephaly, Rhizomelia, Hypospadias, Mesomelic/rhizomelic limb shortening, Inability t... |
OMIM:601803 |
Progressive Multifocal Leukoencephalopathy |
|
CNS demyelination |
ORPHA:217260 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, Delayed puberty, Slender build |
OMIM:300967 |
Trigeminal Neuralgia |
|
CNS demyelination, Peripheral demyelination |
ORPHA:221091 |
Fraser Syndrome |
|
Finger syndactyly, Anophthalmia, Toe syndactyly, Abnormal hair pattern, Cryptorchidism, Microphth... |
ORPHA:2052 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Cataract, Microcephaly, Iris coloboma, Large basal ganglia, Abnormal ce... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Lateral ventr... |
ORPHA:261537 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Down-sloping shoulders, Cryptorchidism, Clinodactyly, Microcornea, Cili... |
OMIM:309800 |
Holoprosencephaly 1 |
|
Microphthalmia, Seizure |
OMIM:236100 |
Holoprosencephaly 2 |
|
Diabetes insipidus, Adrenal hypoplasia, Microcephaly, Microphthalmia, Agenesis of corpus callosum... |
OMIM:157170 |
Kindler Syndrome |
|
Spotty hyperpigmentation, Urethral stenosis, Spotty hypopigmentation, Phimosis |
OMIM:173650 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morpholo... |
OMIM:154500 |
Bickerstaff Brainstem Encephalitis |
|
Acute demyelinating polyneuropathy, CNS demyelination, Anisocoria, Mydriasis |
ORPHA:79138 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Leukodystrophy |
OMIM:601539 |
Acute Transverse Myelitis |
|
CNS demyelination, Decreased circulating copper concentration |
ORPHA:139417 |
Maternal Phenylketonuria |
|
Microcephaly, Abnormal renal morphology, Hypoplasia of the corpus callosum, Intrauterine growth r... |
ORPHA:2209 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Cervical ribs, Limbal dermoid, M... |
OMIM:164210 |