| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... |
OMIM:604213 |
| Polyrrhinia |
|
Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
| Unilateral Hemispheric Polymicrogyria |
|
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia |
ORPHA:101071 |
| Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum |
OMIM:300864 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy |
ORPHA:363654 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent meningococ... |
OMIM:614372 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal cerebral morphology, Simplif... |
ORPHA:329228 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Dilation of lateral ventricles, Polymicrogyria |
OMIM:300982 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Short stature, Failure to thrive, Recurrent otitis media, Recurre... |
OMIM:616022 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Megalencephaly, Ventriculomegaly |
OMIM:615938 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... |
OMIM:600348 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Ventriculomegaly, Hypoplasia of the corpus callo... |
OMIM:608716 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... |
OMIM:619517 |
| Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Failure to thrive, Recu... |
OMIM:613501 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:616816 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar gliosis, Gliosis, Bas... |
ORPHA:79243 |
| Alg2-Cdg |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity of cerebral whi... |
ORPHA:79326 |
| Martsolf Syndrome 2 |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
| Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Obesity, Recurrent re... |
OMIM:300310 |
| Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
| Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
| Lissencephaly 3 |
|
Lissencephaly, Ventriculomegaly, Pachygyria, Polymicrogyria, Agyria, Hypoplasia of the corpus cal... |
OMIM:611603 |
| Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hypoplastic hippocampus, Cerebral atro... |
ORPHA:85179 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Agenesis of corpus callosum, Microcephaly |
OMIM:618736 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:610031 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dilation of lateral ventricles, Cerebral cortical hemiatrophy |
ORPHA:306669 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Growth delay |
OMIM:615468 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dilation of lateral ventricles,... |
OMIM:617296 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Dilation of lateral ventricles, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy |
ORPHA:77299 |
| Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... |
OMIM:614039 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Lissencephaly 4 |
|
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:614019 |
| Mental Retardation, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Polymicrogyria, Dilation of lateral ventricles, Hypoplasia of the corpu... |
OMIM:617751 |
| Holoprosencephaly 5 |
|
Central diabetes insipidus, Dilation of lateral ventricles, Hydrocephalus, Microcephaly |
OMIM:609637 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts |
OMIM:600721 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Dilation of lateral ventricles, Microcephaly |
OMIM:619278 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
| Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Ventriculomegaly, Hydrocephalus,... |
ORPHA:2185 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilation of lateral ventricles, Agenesis of corpus callosum |
OMIM:300952 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Gliosis, Lewy bodies, Dilation of lateral ventricles, Cerebral cortical ... |
OMIM:607485 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Leukoencephalopathy, Abnormal cerebral white matter morphology, Bilateral gener... |
ORPHA:178469 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Ventriculomegaly, Abnormality of the ... |
ORPHA:255182 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebral white matter hypoplasia, Simplified gyral pattern, Primary microcephaly, Hypoplasia of t... |
ORPHA:284417 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, C... |
OMIM:607341 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Ventriculomegaly, Pro... |
ORPHA:488627 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventri... |
ORPHA:262767 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Ventriculomegaly, Agenesis of corpus callosum, Micr... |
OMIM:617090 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypo... |
ORPHA:208447 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly, Hydrocephalus, Perivent... |
ORPHA:500055 |
| Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
OMIM:303350 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
| X-Linked Intellectual Disability, Wilson Type |
|
Dilation of lateral ventricles, Microcephaly |
ORPHA:85290 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Hypoplastic hippocampus, Dilation of lateral ventricles, Hypoplasia of... |
OMIM:618606 |
| Glutamine Deficiency, Congenital |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Subependymal cysts |
OMIM:610015 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Pachygyria, Agyria, Dilation ... |
ORPHA:2148 |
| Paganini-Miozzo Syndrome |
|
Dilation of lateral ventricles |
OMIM:301025 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
OMIM:617669 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Colpocephaly, Abnormal corpus callosum morpho... |
ORPHA:397715 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Cavum septum pellucidum, Cerebral atrophy, Dilation of lateral ventricle... |
ORPHA:464738 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Deep white matter hypodensities, Abnormal corpus callosum morphology, Abnormal cerebral white mat... |
ORPHA:565624 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... |
ORPHA:300570 |
| Malan Overgrowth Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:420179 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Micro... |
ORPHA:2512 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification |
ORPHA:73256 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Failure to thrive, Decreased circulating anti... |
OMIM:601495 |
| Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebral white matter atrophy, Abnormal cerebral white matter morpholo... |
ORPHA:356961 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... |
OMIM:618492 |
| Cach Syndrome |
|
Dysgyria, Cerebral atrophy, Dilation of lateral ventricles, T2 hypointense thalamus, Microcephaly |
ORPHA:135 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly |
ORPHA:3078 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:304100 |
| Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
| Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cyst, Dandy-Walk... |
OMIM:304050 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy |
ORPHA:314404 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callo... |
OMIM:307000 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Gliosis, Neuronal loss in the cerebral cortex, Ventriculomegaly, Pachygyria, Cerebral hypoplasia,... |
ORPHA:168486 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Probst bundles |
OMIM:612863 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... |
OMIM:617542 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... |
ORPHA:1528 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Dilation of lateral ventricles, Hydrocephalus |
OMIM:619575 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus c... |
OMIM:225790 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... |
ORPHA:231144 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Primary microcephaly, Periventricular l... |
ORPHA:293725 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... |
ORPHA:2822 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum |
OMIM:618914 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral white matter hypoplasia, Dilated fourth ventricle, Leukoencephalopathy, Ventriculomegaly... |
ORPHA:572798 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:610498 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Ventriculomegaly, Pachygyria, Short corpus... |
ORPHA:255138 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Ventriculomegaly, Small basal ganglia, Periventricular leukomalacia, ... |
OMIM:616900 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level,... |
ORPHA:169079 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... |
OMIM:619302 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... |
ORPHA:238722 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Glutaric Acidemia I |
|
Dilation of lateral ventricles |
OMIM:231670 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly |
OMIM:619466 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... |
ORPHA:276 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... |
OMIM:240500 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614833 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia |
OMIM:306000 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:606843 |
| Cog5-Cdg |
|
Dilation of lateral ventricles, Cerebral white matter atrophy, Microcephaly, Diffuse cerebral atr... |
ORPHA:263487 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Cavum septum pellucidum, Dilation of lateral ventricles, Abnormal corpus callosum morphology, Abn... |
ORPHA:457279 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Dila... |
ORPHA:434179 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly |
OMIM:615219 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... |
ORPHA:572 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Decreased ... |
OMIM:607594 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
| Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Dysplastic corpus callosum, Ventriculomegaly, Progressive microcephal... |
ORPHA:2524 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis, Ventriculomegaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300215 |
| Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... |
OMIM:193670 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly |
OMIM:616342 |
| Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis |
ORPHA:2182 |
| Aicardi-Goutieres Syndrome 9 |
|
Diffuse leukoencephalopathy, Cerebral calcification, Basal ganglia calcification, Dilation of lat... |
OMIM:619487 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesi... |
OMIM:618603 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
| Cardiofaciocutaneous Syndrome 4 |
|
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology |
OMIM:615280 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:218670 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Mosaic Trisomy 1 |
|
Dilation of lateral ventricles, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:1692 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Failur... |
ORPHA:83471 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, C... |
OMIM:615287 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
| Distal Monosomy 10Q |
|
Cavum septum pellucidum, Dilation of lateral ventricles, Microcephaly |
ORPHA:96148 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Baraitser-Winter Syndrome 2 |
|
Ventriculomegaly, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:614583 |
| Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... |
OMIM:182230 |
| Microhydranencephaly |
|
Hydranencephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:605013 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Simplified gyral pattern, Ventriculomegaly, Pachygyria, Hypoplasia of... |
OMIM:619179 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Small pituitary gland, Ventric... |
OMIM:619479 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Kohlschutter-Tonz Syndrome-Like |
|
Dilation of lateral ventricles, Secondary microcephaly, Microcephaly, Ventriculomegaly |
OMIM:619229 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency |
OMIM:619518 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... |
ORPHA:331235 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
| Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent pneu... |
OMIM:617475 |
| Immunodeficiency 36 |
|
Recurrent bacterial infections, Growth delay, Short stature, Decreased circulating antibody level... |
OMIM:616005 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
| Bainbridge-Ropers Syndrome |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:615485 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Dilation of lateral ventricles, Hydrocephalus |
OMIM:612301 |
| Weaver Syndrome |
|
Dilation of lateral ventricles, Absent septum pellucidum |
OMIM:277590 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricu... |
OMIM:618476 |
| Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Absent septum pellucidum, Decreased response to growth hormone stimulation test, Ag... |
OMIM:609053 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Curry-Jones Syndrome |
|
Megalencephaly, Hemimegalencephaly, Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:601707 |
| Oculocerebrodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology |
ORPHA:557003 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Aqueductal stenosis |
ORPHA:1496 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
| Amish Lethal Microcephaly |
|
Lissencephaly, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
ORPHA:99742 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... |
ORPHA:70578 |
| Acute Lung Injury |
|
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of ... |
ORPHA:178320 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Primary microcephaly, Secondary microc... |
ORPHA:500144 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... |
ORPHA:331206 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly, Ventriculomegaly |
ORPHA:452 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dandy-Walker malformation, Dysplastic corpus callosum, Dilated fourth ventricle, Primary microcep... |
ORPHA:357058 |
| Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Failure to thrive in infancy, Severe varicella zoster infection, ... |
OMIM:606367 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Failure to thrive, Decre... |
OMIM:308230 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Dilation of lateral ventricles, Decreased response to growth hormo... |
ORPHA:177907 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613735 |
| Lissencephaly Type Iii And Bone Dysplasia |
|
Agenesis of corpus callosum, Microlissencephaly |
OMIM:601160 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Failure ... |
OMIM:603554 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Dilation of lateral ventricles, Pachygyria |
OMIM:263520 |
| Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Postnatal growth retardation, Large placent... |
ORPHA:254534 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corp... |
ORPHA:314679 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Recurrent otitis media, Abnormal sperm motility, Female infer... |
ORPHA:244 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
| Curry-Jones Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1553 |
| Vici Syndrome |
|
Recurrent bacterial infections, Growth delay, Failure to thrive, Recurrent fungal infections, Dec... |
OMIM:242840 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:300896 |
| Spondyloenchondrodysplasia |
|
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... |
ORPHA:1855 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Severe cytomegalovirus infection... |
OMIM:300291 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... |
OMIM:613179 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Focal polymicr... |
OMIM:619103 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Progressive ventriculomegaly, Abnormal cerebral cortex morphology, Si... |
ORPHA:500150 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... |
ORPHA:221139 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Immunodeficiency 23 |
|
Severe varicella zoster infection, Failure to thrive, Increased circulating IgG level, Chronic mu... |
OMIM:615816 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Cachexia, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... |
ORPHA:486 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... |
ORPHA:540 |
| Pgm3-Cdg |
|
Recurrent bacterial infections, Sepsis, Short stature, Increased circulating IgA level, Recurrent... |
ORPHA:443811 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
| Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Intrauterine growth retardation, Short stature, Recurrent... |
OMIM:617053 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... |
OMIM:102700 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:309801 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:261250 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Proportionate short stature, Intrauterine growth retardation, Bir... |
OMIM:244460 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Severe intrauterine growth retardation, Postnatal growth retardation |
OMIM:241410 |
| Aromatase Deficiency |
|
Growth delay, Eunuchoid habitus, Female infertility, Male infertility, Primary amenorrhea, Hyperg... |
ORPHA:91 |
| Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... |
ORPHA:158061 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency |
OMIM:110100 |
| Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Cortica... |
ORPHA:1136 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Growth delay, Failure to thrive, Recurrent respiratory in... |
OMIM:612541 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233710 |
| Choreoacanthocytosis |
|
Caudate atrophy, Abnormal putamen morphology, Frontal cortical atrophy, Hypoplastic hippocampus, ... |
ORPHA:2388 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Leukoencephalopathy, Microcephaly, Pachygyria, Polymicrogyria, Hydrocephalus, Dilation of lateral... |
OMIM:607872 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Severe short stature, Growth delay, Failure to thrive |
ORPHA:2176 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Recurrent Aspergillus infections, Recurrent pneumonia, Recurrent ba... |
OMIM:233690 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
| Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... |
ORPHA:48435 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Microcephaly, Agenesis of corpus callosum, Septo-optic dysplasia |
OMIM:301043 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Polymicrogyria, Secondary mic... |
OMIM:618820 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... |
OMIM:116920 |
| Sweet Syndrome |
|
Increased circulating interleukin 6, Recurrent infections, Abnormality of tumor necrosis factor s... |
ORPHA:3243 |
