| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, La... |
ORPHA:306669 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
| Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
| Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... |
ORPHA:363654 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Microcephaly, Vegetative state, Corpus callo... |
ORPHA:77299 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... |
OMIM:617862 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Ataxia, Gliosis, Increased CSF lactate, Ce... |
ORPHA:79243 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hypoglycorrhachia, Hemiparesis, Paroxysmal lethargy, Confusion,... |
OMIM:606777 |
| Lissencephaly 4 |
|
Hypertonia, Short stature, Babinski sign, Cerebellar hypoplasia, Primary microcephaly, Growth del... |
OMIM:614019 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Recurrent opportunisti... |
OMIM:608971 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, R... |
OMIM:300310 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Macrocephaly, Normal pressure hydrocephalus, Kinetic tremor, Tremor, Gait disturbance, Ventriculo... |
OMIM:611808 |
| Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis med... |
OMIM:613501 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Masa Syndrome |
|
Hydrocephalus, Macrocephaly, Short stature, Microcephaly, Spastic paraplegia, Paraplegia, Shuffli... |
OMIM:303350 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Macrocephaly, Cerebral atrophy, Ventriculomegaly, Cerebellar atrophy, Upper l... |
OMIM:613925 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Hemiplegia/hemiparesis, Macrocephaly, Cerebral palsy, Reduced consciousnes... |
ORPHA:99966 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Hypoplasia of the pons, Tetr... |
OMIM:618276 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased CSF lactate, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Choreoathetos... |
OMIM:312170 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Abnormal cerebellum morphology, Increased CSF lactate, Loss of ambulation, Cerebral... |
ORPHA:565624 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Stroke, Cerebral hemorrhage, Brain atrophy, Intracranial hemorrhage, Parkinsonism, Co... |
ORPHA:136 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... |
OMIM:615234 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Cerebral atrophy, Microcephaly, Lethargy, Growth delay, Agenesis of corpus callosum, ... |
OMIM:274270 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait imbalance, Cerebellar hypoplasia, Gait ataxia, Drowsiness, Cerebellar atrophy, Growth delay,... |
ORPHA:488635 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... |
OMIM:604213 |
| Dural Sinus Malformation |
|
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Poor coordination, Cer... |
ORPHA:97339 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Neuronal loss in central nervous system, Dysmetr... |
OMIM:607136 |
| Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Cerebral atrophy, Dysmetria, Limb ataxia, Sp... |
ORPHA:135 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hypoglycorrhachia, Confusion, Hemipares... |
ORPHA:71277 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Short stature, Cerebellar hypoplasia, Tremor, Gait ataxi... |
OMIM:213200 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness, Cerebellar atrophy |
OMIM:141500 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Central Neurocytoma |
|
Hydrocephalus, Ataxia, Coma, Babinski sign, Abnormal lateral ventricle morphology, Lethargy |
ORPHA:73256 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar verm... |
ORPHA:2703 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Arrhythmia, Head tremor, Gait ... |
OMIM:614860 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... |
OMIM:616022 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... |
OMIM:611252 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Microcephaly, Ventriculomegaly, Cerebellar atrophy, Progressive microcephaly |
OMIM:613402 |
| Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male infertil... |
OMIM:612444 |
| Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
| Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly, Spasticity, Agenesis of corpus callosum |
OMIM:600348 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebral palsy, Babinski sign, Microcephaly, Spastic paraplegia, Ventriculomegaly, Spast... |
OMIM:612936 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Coma, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Myoclonus, Gait disturbance, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Brain atrophy, Severe postnatal growth retardation, Myoclonus, Microcephaly, Dilated ... |
ORPHA:3078 |
| Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Microcephaly, Hydrocephalus, Lethargy |
ORPHA:26 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Abnormal morphology... |
OMIM:193670 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Intracranial hemorrhage, Ventriculomegaly, Spastic tetraplegia, Growth delay |
OMIM:614483 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Cerebral atrophy, Microcephaly, Myoclonus, Atrophy/Degeneration affecting the brainstem,... |
OMIM:614946 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Macrocephaly, Ataxia, Microcephaly, Ventriculomegaly |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:618369 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Recurrent bacte... |
OMIM:607594 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Microcephaly, Oromotor apraxia, Hemiparesis, Hypoplasia of the pons, Lateral ventricle dilatation... |
ORPHA:300573 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Secondary microcephaly, Dys... |
OMIM:617829 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Rhizomelia |
OMIM:166990 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Gliosis, Microcephaly, Cerebellar hypoplasia, Abnormal astrocyte morphology, Ventriculomegaly, Sp... |
ORPHA:168486 |
| Young Syndrome |
|
Recurrent bronchitis, Bronchiectasis, Azoospermia, Recurrent sinopulmonary infections, Congenital... |
OMIM:279000 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Neutropenia |
ORPHA:90023 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria... |
ORPHA:284332 |
| Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... |
OMIM:610245 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Microcephaly, Babinski sign, Frequent falls, Spasticity, Cerebellar atrophy, Spastic gait... |
OMIM:619742 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Brain Small Vessel Disease 3 |
|
Cerebral atrophy, Spastic tetraplegia, Cerebral hemorrhage |
OMIM:618360 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Cerebral atrophy, Microcephaly, Ventriculomegaly, Spastic tetraplegia, Cerebellar atr... |
OMIM:618730 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... |
ORPHA:98762 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia, Ce... |
OMIM:143100 |
| Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Growth delay, Short stature, Oculogyric crisis, Microcephaly, Lateral ventricle... |
ORPHA:208447 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Brain atrophy, Abnormal pyramidal sign, Ventriculomegaly, Hypertrophic cardiomyopathy, Lethargy |
OMIM:618228 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Latera... |
ORPHA:572798 |
| Huntington Disease-Like 1 |
|
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Cerebral cortical atr... |
ORPHA:157941 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Progressive spastic paraplegia, Scissor gait, ... |
ORPHA:101010 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Folate Malabsorption, Hereditary |
|
Malabsorption, Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive me... |
OMIM:229050 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Immunodeficiency 48 |
|
Recurrent candida infections, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Pneumo... |
OMIM:269840 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
| Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... |
OMIM:618449 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Cerebral atrophy, Microcephaly, Chorea, Involuntary movements, Ventric... |
OMIM:617804 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Hemiparesis |
ORPHA:101071 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Cerebral atrophy, Short stature, Oculogyric crisis, Microcephaly, Chorea, Later... |
ORPHA:178469 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Myoclonus, Intraventricular hemorrhage, Microcephaly, Neonatal death, Spas... |
OMIM:619055 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... |
OMIM:221820 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... |
ORPHA:101150 |
| Abeta Amyloidosis, Italian Type |
|
Coma, Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Macrocephaly, Aqueductal stenosis, Spastic paraplegia, Spasticity, Agenesis of cor... |
OMIM:307000 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
| Pineocytoma |
|
Hydrocephalus, Difficulty walking, Increased CSF protein, Episodic ataxia |
ORPHA:251912 |
| Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Oculogyric crisis, Parkinsonism, Rigidity, Ga... |
ORPHA:255 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Babinski s... |
ORPHA:204 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615938 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Babinski sign, Progressive spasticity, Difficulty walking, Progressive ... |
ORPHA:171622 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Stroke, CSF pleocytosis, Cerebral vasculitis, Intracranial hemorrhage, Parki... |
ORPHA:140989 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Microcephaly, Spasti... |
OMIM:614959 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Microcephaly, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Gr... |
OMIM:614322 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
| Cog5-Cdg |
|
Brain atrophy, Short stature, Microcephaly, Truncal ataxia, Atrophy/Degeneration affecting the br... |
ORPHA:263487 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Primary microc... |
ORPHA:284417 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Cerebral atrophy, Microcephaly, Cerebellar atrophy, Upper limb spasticity, Low... |
OMIM:618468 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Protein-losing enteropathy, Chronic sinusitis, Recur... |
OMIM:613502 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Macrocephaly, Normal pressure hydrocephalus, Postnatal growth reta... |
ORPHA:300570 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Developmental And Epileptic Encephalopathy 40 |
|
Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Intraute... |
OMIM:617065 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Slurred speech, Gait ataxia, Ventriculomegaly, Cerebellar atrophy |
OMIM:619323 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... |
OMIM:159550 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Patent ductus arteriosus, Mild fetal ventriculomegaly, Agenesis of corpus callosu... |
OMIM:610498 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Progressive macrocephaly, Subependymal nodules, Ataxia, Subdural hemorrhage, Pallidal degeneratio... |
ORPHA:25 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic d... |
OMIM:243700 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia |
OMIM:242870 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Thick eyebrow, Dysmetria, Limb ataxia, Intention tremor, Mi... |
OMIM:616127 |
| Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Microcephaly, Babinski sign, Spas... |
OMIM:614255 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Increased CSF lactate, Paralysis, Lethargy |
OMIM:613710 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... |
OMIM:613860 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Slc35A2-Cdg |
|
Inability to walk, Cerebral atrophy, Short stature, Microcephaly, Tetralogy of Fallot, Atrophy/De... |
ORPHA:356961 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myoclonus, Microcephaly, Hy... |
OMIM:225753 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Dysmetria, Babinski sign, Abnormal dentate nucleus morphology, Drowsiness,... |
OMIM:203450 |
| Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermat... |
OMIM:307200 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar ve... |
OMIM:300864 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Microlissencephaly |
|
Hypertonia, Cerebral cortical atrophy, Microcephaly, Ventriculomegaly, Cerebellar atrophy |
ORPHA:1083 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... |
ORPHA:183675 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Gliosis, Short stature, Microcephaly, Hyperkinetic movements, Gai... |
OMIM:300957 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,... |
OMIM:614831 |
| Hemimegalencephaly |
|
Gliosis, Macrocephaly, Myoclonus, Hemiparesis, Abnormal neuron morphology, Ventriculomegaly |
ORPHA:99802 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, B lymphocytopenia,... |
OMIM:601457 |
| Malan Overgrowth Syndrome |
|
Macrocephaly, Lateral ventricle dilatation, Ventriculomegaly, Low posterior hairline, Episodic at... |
ORPHA:420179 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Cerebellar hypoplasia, Difficulty walking, Progressive spastic paraplegia, Spast... |
ORPHA:401815 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Abnormal cerebellar cortex morphology, Coma, Cerebral hemorrhage, ... |
ORPHA:31825 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Cerebral atrophy, Microcephaly, Spasticity, Lethargy |
OMIM:617105 |
| Papilloma Of Choroid Plexus |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma |
ORPHA:2807 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... |
ORPHA:53719 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:615937 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Coma, Cerebral hemorrhage, Hyperglycorrhachia, ST segment d... |
ORPHA:90065 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, ... |
OMIM:602390 |
| Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Myelomeningocele, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Neurogen... |
ORPHA:1136 |
| Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness, Global brain atrophy |
ORPHA:324422 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... |
ORPHA:217390 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Microcephaly, Gait disturbance, Tremor, Choreoat... |
ORPHA:765 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... |
OMIM:615362 |
| Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Immotile sperm, Chronic bronchitis, Otitis media, Reduced sperm motility, Absent ... |
OMIM:613807 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Malabsorption, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormal lymphocyte morpholo... |
ORPHA:229717 |
| Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... |
ORPHA:331235 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... |
OMIM:619436 |
| Hemochromatosis, Type 3 |
|
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Purpura, Neutropenia, Anemia |
OMIM:604250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Myoclonus, Rigidity, Athetosis, Gait disturbance, Ventriculomegaly, Cerebellar... |
OMIM:618241 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Sneddon Syndrome |
|
Hemiplegia, Stroke, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke |
OMIM:182410 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Diarrhea, B lymphocytopenia, Recurrent bronchitis, Chronic sinusi... |
OMIM:612692 |
| Gaba-Transaminase Deficiency |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Lethargy |
OMIM:613163 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Short stature, Cerebellar atrophy, Spastic tetraparesis, Growth delay, Progres... |
ORPHA:438178 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly, Growth delay, Abnormal position of hair whorl |
ORPHA:85290 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... |
OMIM:613500 |
| Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Glycine Encephalopathy |
|
Myoclonus, Agenesis of corpus callosum, Lethargy |
OMIM:605899 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Short stature, Microcephaly, Babinski sign, Spasticity, Cerebellar atrophy, Wad... |
OMIM:619090 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Orth... |
ORPHA:2822 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Poor gross motor coordination, Cerebral palsy, Lateral ventricle dilatation, Secondary microcepha... |
ORPHA:2148 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Microcephaly, Cerebellar hypoplasia, Patent ductus arteriosus, Ve... |
OMIM:617397 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Severe short stature |
OMIM:302000 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Lymphopenia, Otitis media, Recurrent herp... |
ORPHA:169160 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebral cortical atrophy, Vegetative state, Cerebellar hypoplasia, Chorea, Athetosis, Spastic te... |
OMIM:619922 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Short stature, Neutropenia |
OMIM:610798 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Malabsorption, Colitis, Viral hepatitis, Recurrent fungal infecti... |
OMIM:209920 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sparse scalp hair, Dysplastic corpus callosum, Macrocephaly, Absent eyebrow, Sparse eyebrow, Alop... |
ORPHA:544488 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulm... |
ORPHA:486 |
| Omenn Syndrome |
|
Recurrent fungal infections, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Recurrent bact... |
OMIM:603554 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Immotile sperm, Absent central microtubular pair morphology of respiratory motile... |
OMIM:617091 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance |
OMIM:300660 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Dysplastic corpus callosum, Cerebral cortical atrophy, Gait disturbance, Lateral ... |
ORPHA:488627 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... |
ORPHA:399805 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Diarrhea, Pneumonia, Recurrent Haemophi... |
ORPHA:276 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Delayed puberty,... |
ORPHA:280679 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Macrocephaly, Cerebral atrophy, Abnormal bleeding, Microcephaly, Abnormal pyramida... |
OMIM:300884 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:79326 |
| Focal Facial Dermal Dysplasia Type Iv |
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Microcephaly, Hydrocephalus, Hemiparesis, Intracranial hemorrhage |
ORPHA:398189 |
| Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Hypertonia, Neuronal loss in central nervous system, Gliosis, Microcephaly, Babinski sign, Rigidi... |
OMIM:614498 |
| Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Splenomegaly, Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Mening... |
OMIM:240500 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
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Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| Distal Monosomy 10Q |
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Ataxia, Postnatal growth retardation, Poor fine motor coordination, Short stature, Microcephaly, ... |
ORPHA:96148 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebral atrophy, Microcephaly, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebellar at... |
OMIM:618973 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... |
OMIM:618801 |
| Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia |
ORPHA:211017 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
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Microcephaly, Cerebral atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:611726 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:614470 |
| Machado-Joseph Disease |
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Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Abnormality of extrapy... |
OMIM:109150 |
| Hydranencephaly |
|
Cerebral cortical atrophy, Postnatal growth retardation, Opisthotonus, Abnormal internal carotid ... |
ORPHA:2177 |
| Dandy-Walker Syndrome |
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Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Agenesis of cerebellar vermis, Partial a... |
OMIM:220200 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Hirsutism, Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, T... |
OMIM:610185 |
| Scedosporiosis |
|
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... |
ORPHA:449280 |
| Leukoencephalopathy With Vanishing White Matter |
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Macrocephaly, Gliosis, Cessation of head growth, Gait disturbance, Spasticity, Unsteady gait, Let... |
OMIM:603896 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Motor stereotypy, Gliosis, Short stature, Microcephaly, Hyperkinetic movements, Gait disturbance,... |
ORPHA:457240 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension |
ORPHA:820 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypertonia, Microcephaly, Dystonia, Intrauterine growth retardation, Cardiomyopathy, Lethargy |
ORPHA:26792 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Infertility, Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent... |
OMIM:300991 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis |
OMIM:619470 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... |
OMIM:616291 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Lethargy |
ORPHA:79284 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Broad-based gait, Growth delay, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmet... |
ORPHA:363429 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebral atrophy, Microcephaly, Spasticity, Cerebellar atrophy, Growth delay, Dystonia |
OMIM:617899 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... |
ORPHA:275872 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Ciliary Dyskinesia, Primary, 32 |
|
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, R... |
OMIM:616481 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Cerebellar atrophy... |
OMIM:619389 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... |
ORPHA:352596 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... |
OMIM:619302 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Coma, Microcephaly, Corpus callosum atrophy, Tetraparesis, Athetosis, Cerebellar atrophy,... |
OMIM:619310 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dystonia, Lethargy |
OMIM:618224 |
| Ciliary Dyskinesia, Primary, 26 |
|
Bronchiectasis, Infertility, Respiratory insufficiency due to defective ciliary clearance, Chroni... |
OMIM:615500 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ataxia, Increased CSF lactate, Short stature, Microcephaly, Abnor... |
OMIM:614947 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Chorea, Hypertrophic cardiomyopathy, Lethargy |
OMIM:618683 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance,... |
OMIM:604484 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Short stature, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebra... |
OMIM:300845 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Short stature, Intention tremor, Gait ataxia, Spasticity, Cerebell... |
OMIM:608029 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
| Severe Canavan Disease |
|
Macrocephaly, Inability to walk, Decerebrate rigidity, Babinski sign, Spasticity, Lethargy |
ORPHA:314911 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Cerebral cortical atrophy, Lethargy |
ORPHA:622 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Short stature, Cerebellar vermis hypoplasi... |
ORPHA:1532 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Microcephaly, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Gliosis, Brain atrophy, Microcephaly, Neurodegeneration, Cerebellar hypoplasia, Diffus... |
OMIM:214150 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Di... |
ORPHA:1170 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Brain atrophy, Babinski sign, Cerebellar atrophy, Progressive microcephaly, Dystonia, Let... |
OMIM:618226 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... |
ORPHA:52901 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Coma, Stroke, Microcephaly, Delirium, Confusion, Cerebral ischemia, Par... |
ORPHA:927 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Mirage Syndrome |
|
Adrenal insufficiency, Gastroesophageal reflux, Lymphopenia, Hypergonadotropic hypogonadism, Hypo... |
OMIM:617053 |
| Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Tremor, Inability to walk, Ventriculomegaly |
OMIM:619561 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia, Cerebellar vermis atrophy |
ORPHA:458798 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism |
ORPHA:3000 |
