| Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Diffuse swelling of cerebral white matter, Cerebral atrophy, ... |
OMIM:613925 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... |
OMIM:619177 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... |
OMIM:618745 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... |
OMIM:617862 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... |
ORPHA:399808 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... |
ORPHA:284388 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... |
ORPHA:300573 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... |
ORPHA:306669 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... |
OMIM:613402 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... |
OMIM:611252 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Immunodeficiency 51 |
|
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
| Brain Small Vessel Disease 3 |
|
Cerebral atrophy, Cerebral hemorrhage, Spastic tetraplegia, Cerebral calcification, Leukoencephal... |
OMIM:618360 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Ma... |
OMIM:618709 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Secondary microcephaly, Hemiparesis, Ataxia, Paralysis, Confusion,... |
OMIM:606777 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Reduced consciousness/confusion, Ataxia, Hemiplegia/hemiparesis, Cerebral calcifi... |
ORPHA:99966 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Loss of consciousness, Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral wh... |
ORPHA:136 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Hypertonia, Ce... |
OMIM:618730 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... |
OMIM:618433 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... |
OMIM:617959 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Dystonia, Gliosis, Increased CSF lactate, Cerebellar cyst, Hypoplasia of t... |
ORPHA:79243 |
| Dystonia 23 |
|
Axial dystonia, Arrhythmia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atro... |
OMIM:614860 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Vegetative state, Atrophy/Degeneration affecting the brainstem, Cerebell... |
ORPHA:77299 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... |
ORPHA:363654 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Growth delay, Polymicr... |
OMIM:614483 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Progressive leukoenceph... |
OMIM:615889 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Megalencephaly, Autosomal Dominant |
|
Macrocephaly, Megalencephaly, Hydrocephalus |
OMIM:155350 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:615268 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign, Cerebellar cortical atrophy... |
ORPHA:171622 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Ce... |
OMIM:618468 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Megalencephaly, Polymicrogyria, Macrocephaly, Hydrocephalus |
OMIM:615938 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Gliosis, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity |
OMIM:618369 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... |
OMIM:618276 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Leukoenc... |
OMIM:300660 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Short stature, Atrophy/Degenera... |
OMIM:616192 |
| Mental Retardation, Autosomal Dominant 48 |
|
Highly arched eyebrow, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebella... |
OMIM:617751 |
| Methanol Poisoning |
|
Basal ganglia necrosis, Coma, Bilateral basal ganglia lesions, Abnormal caudate nucleus morpholog... |
ORPHA:31825 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Toe walking, Deep white matter hypodensities, Corpus callosum atrophy, Hyp... |
ORPHA:565624 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Gait ataxia, Apraxia, Gliosis, Limb ataxia, Chorea, Ataxia, Bradykinesia, Confusion, Ce... |
OMIM:607136 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Lethargy, Apraxia, Choreoathetosis, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis,... |
ORPHA:71277 |
| Masa Syndrome |
|
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Short stature, Macroc... |
OMIM:303350 |
| Cerebral Cavernous Malformations 3 |
|
Abnormal cerebral morphology, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Macrocephaly, Hemimegalencep... |
OMIM:615937 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Cerebral atrophy, Growth delay, Hyperactivity, Tetraplegia, Microcephaly, A... |
OMIM:274270 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly, Macroc... |
OMIM:611808 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Paraparesis, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, ... |
ORPHA:140989 |
| Phosphoserine Phosphatase Deficiency |
|
Hypertonia, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micr... |
OMIM:614023 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... |
ORPHA:204 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atrophy, Progressive i... |
ORPHA:521406 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Macrocephaly, Hydroceph... |
OMIM:300864 |
| Immunodeficiency 61 |
|
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Malabsorption, Recurrent bacterial inf... |
OMIM:300310 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Basal ganglia cysts, Episodic ataxia, Lethargy, Increased CSF lactate, Ventriculomegaly... |
OMIM:312170 |
| Alexander Disease |
|
Progressive macrocephaly, Ataxia, Increased CSF protein, Hydrocephalus, Spasticity |
OMIM:203450 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Myoclonus, Secondary microceph... |
OMIM:617829 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Spastic paraplegia, Gliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atro... |
OMIM:612936 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Clonus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Tetraplegia, Micro... |
OMIM:614959 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... |
ORPHA:98797 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia,... |
OMIM:604213 |
| Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Gait disturbance, Lethargy, Hydrocephalus |
ORPHA:26 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, ... |
OMIM:614322 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... |
ORPHA:98762 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... |
OMIM:608971 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Subdural hemorrhage, Increased head circumference, T2 hypointense basal ganglia, Rigidi... |
ORPHA:25 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Ventriculomegaly, Cerebellar hypoplasia, Polymicrogyria, Cerebral hemorrhage, Petechiae... |
OMIM:617397 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Ventriculomegaly, Cerebral atrophy, Growth delay, Cerebellar atrophy, Atrophy/Degenerati... |
OMIM:614946 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... |
OMIM:617013 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ventriculomegaly, Abnormal cerebral white matter morphology, Ataxi... |
ORPHA:248111 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids |
|
Apraxia, Gliosis, Abnormal cerebral white matter morphology, Bradykinesia, Leukoencephalopathy, R... |
OMIM:221820 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:98798 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent bacterial infectio... |
OMIM:613501 |
| Nescav Syndrome |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Babinski sign... |
OMIM:614255 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Cerebral atrophy, Ataxia, Synophrys, Cereb... |
OMIM:617804 |
| Cach Syndrome |
|
T2 hypointense thalamus, Progressive macrocephaly, Truncal ataxia, Limb ataxia, Growth delay, Cer... |
ORPHA:135 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... |
ORPHA:208447 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... |
ORPHA:178469 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Diarrhea, Chronic sinusitis, Recurrent ... |
OMIM:613502 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neutropenia, Sinusitis, C... |
OMIM:601495 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Growth delay, Cerebellar hypoplas... |
ORPHA:488635 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Anemia, ... |
OMIM:615234 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... |
OMIM:611726 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... |
OMIM:614372 |
| Hemimegalencephaly |
|
Pachygyria, Gliosis, Ventriculomegaly, Hemiparesis, Polymicrogyria, Hyperintensity of cerebral wh... |
ORPHA:99802 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Microcephaly, Spasticity |
OMIM:617899 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... |
OMIM:615362 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Pachygyria, Gliosis, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasi... |
ORPHA:168486 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Macrocephaly, Subcortical band heterotopia, Agen... |
OMIM:600348 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... |
OMIM:213200 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Recurrent candida infections |
OMIM:269840 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613500 |
| Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... |
ORPHA:101071 |
| Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Stroke, Cerebral hemorrhage, Myoclonus, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Spasticity, Cerebellar atrophy, Polymicrogyr... |
OMIM:618973 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Coma, Tremor, Hemiparesis, Ataxia, Confusion, Drowsiness, Cerebellar atrophy |
OMIM:141500 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... |
OMIM:310350 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Cerebellar atrophy, Waddling gait, Babinski sign, Short stature, Microcephaly, ... |
OMIM:619090 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Lethargy, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, S... |
OMIM:617105 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Gliosis, Incoordination, Chorea, Ventriculomegaly, Gait disturbance, Poo... |
ORPHA:157941 |
| Developmental And Epileptic Encephalopathy 37 |
|
Choreoathetosis, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Cerebellar atrophy, ... |
OMIM:616981 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... |
ORPHA:70592 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Abnormal cerebellar vermis morphology, Type II lissencephaly, Spastic diplegia, Postnat... |
ORPHA:300570 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral calcification |
OMIM:116860 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... |
OMIM:616948 |
| Central Neurocytoma |
|
Coma, Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Abnormal lateral ve... |
ORPHA:73256 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis, Hypertonia, Cerebellar hypoplasia, Spasticity, Loss of Purkinje cells in the cerebellar ... |
OMIM:225753 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Clonus, Increased CSF lactate, Neonatal death, Spastic tetraplegia, ... |
OMIM:619055 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Moderate Hemophilia A |
|
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... |
ORPHA:169805 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Abetal34V Amyloidosis |
|
Coma, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke |
ORPHA:324703 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... |
OMIM:300423 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Agenesis of corpu... |
OMIM:610245 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Infertility, Abnormal sperm morphology |
OMIM:615081 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Gliosis, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cerebral white matter m... |
OMIM:300957 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... |
OMIM:618090 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cereb... |
OMIM:618606 |
| Dandy-Walker Syndrome |
|
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... |
OMIM:220200 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... |
OMIM:610185 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Unsteady gait, Spastic gait, ... |
ORPHA:101010 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... |
OMIM:600143 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar ... |
ORPHA:468661 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... |
OMIM:617475 |
| Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... |
OMIM:612444 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Ventriculomegaly, Abnormal pyramidal sign, Brain atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Neutropenia, Eosinophilia |
OMIM:257100 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Tremor, Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, C... |
ORPHA:572798 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Dilation of lateral ventricles |
ORPHA:141091 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Hypertonia, Cerebellar vermis hypoplasia, Spastic tetraparesis... |
ORPHA:284417 |
| Severe Canavan Disease |
|
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Babinski sign, Decere... |
ORPHA:314911 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Lethargy, Abnormal corpus striatu... |
ORPHA:2177 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Highly arched eyebrow, Growth delay, Spastic tetraparesis, Cerebellar atrophy,... |
ORPHA:438178 |
| Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Bronchiectasis, Recurrent upper respiratory tra... |
OMIM:193670 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls |
OMIM:615945 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hypertension, Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... |
OMIM:612692 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Cerebellar cyst, Difficulty walking, Abnormal cerebral white matter morphology, Ventr... |
ORPHA:370980 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia, Short stature |
ORPHA:90023 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, E... |
ORPHA:352596 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech |
ORPHA:98766 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Spastic paraplegia, Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis, M... |
OMIM:307000 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... |
OMIM:261550 |
| Young Syndrome |
|
Recurrent bronchitis, Azoospermia, Bronchiectasis, Recurrent sinopulmonary infections, Congenital... |
OMIM:279000 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Pineocytoma |
|
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus |
ORPHA:251912 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... |
OMIM:607594 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal pyramidal sign, Microcep... |
OMIM:300884 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity |
OMIM:617018 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebellar atrophy, C... |
OMIM:610333 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Clumsiness, Intracranial hemorrhage, Abnormal cerebral white matter morphology, ... |
ORPHA:447788 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia |
OMIM:610021 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Synophrys, Broad eyebrow, Cerebellar atrophy, Periventricular leukomalacia, Microcephaly |
OMIM:618302 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia, Cyanosis |
OMIM:613977 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Cerebral cortical atrophy, Lethargy, Ataxia |
ORPHA:622 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Wolff-Parkinson-White syndrome, Increased CSF lactate, Abnormal cerebral ... |
OMIM:614947 |
| Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Paralysis, Dilatati... |
ORPHA:36382 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity |
OMIM:611105 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Cerebellar hypoplasia, Dilation of lateral ventricles, Brain atrophy, Dilated fourth ... |
ORPHA:3078 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:423296 |
| Hemophilia A |
|
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... |
ORPHA:98878 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Abnormal... |
OMIM:221770 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Tremor, Increased CSF lactate, Abnormal pyramidal sign, Progressive cerebellar ataxia, ... |
ORPHA:139485 |
| Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Lethargy, Tremor, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait dis... |
ORPHA:765 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... |
OMIM:604326 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Intention tremor, Cerebellar hypopla... |
OMIM:224050 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Chorea, Cere... |
OMIM:613811 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... |
ORPHA:98756 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Recurr... |
OMIM:618449 |
| Huntington Disease |
|
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in centra... |
OMIM:143100 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Low anterior hairline, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of... |
OMIM:618736 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... |
OMIM:614868 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Dysmetria, Steppage gait |
OMIM:618387 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Abnormal cerebell... |
ORPHA:2703 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Hypertonia, Microcephaly, Dilation of lateral ventricles, Spas... |
OMIM:618890 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:212840 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Global brain atrophy, Abnorma... |
ORPHA:275872 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... |
ORPHA:280763 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Coma, Ischemic stroke, Increased CSF lactate, ST segment depression, Hypopituitarism, Hypertensio... |
ORPHA:90065 |
| Leukoencephalopathy With Vanishing White Matter |
|
Lethargy, Gliosis, Gait disturbance, Unsteady gait, Cessation of head growth, Leukoencephalopathy... |
OMIM:603896 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... |
ORPHA:496756 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
|
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism |
OMIM:229070 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly |
OMIM:608278 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Slurred speech |
OMIM:619323 |
| Abeta Amyloidosis, Italian Type |
|
Coma, Cerebral hemorrhage, Stroke |
ORPHA:324713 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Microcephaly, Cerebellar atrophy, Spastic tetraparesis, Brain atrophy |
OMIM:618741 |
| Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... |
ORPHA:397946 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Lethargy, Ataxia, Brain atrophy, Cerebellar atrophy, Leukoencephalopathy, Babinski sign... |
OMIM:618226 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Gait ataxia, Tremor, Spasticity |
ORPHA:217012 |
| Glycine Encephalopathy |
|
Myoclonus, Lethargy, Agenesis of corpus callosum, Hyperactivity |
OMIM:605899 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology, Coma, Gliosis, Choroid hemorrhage, Gait disturbance, Hyperton... |
ORPHA:88619 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... |
ORPHA:1170 |
| Arnold-Chiari Malformation Type Ii |
|
Neurogenic bladder, Hydrocephalus, Difficulty walking, Paraparesis, Ventriculomegaly, Spasticity,... |
ORPHA:1136 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Growth delay, Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent... |
OMIM:618438 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Lethargy, Hypertonia, Intrauterine growth retardation, Microcephaly, Cardiomyopathy |
ORPHA:26792 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Dec... |
ORPHA:101150 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Infertility, Abnormal sperm morphology |
OMIM:608653 |
| Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis, Rigidity, Clonus, Hypertonia, Bradycardia, Babinski sign, Microcephaly, Myoclonic spasms... |
OMIM:614498 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... |
OMIM:243700 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar dysp... |
ORPHA:457240 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... |
OMIM:600116 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Difficulty walking, Cerebral cortical atrophy, Spastic gait, Lowe... |
ORPHA:401820 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Premature graying of hair, Hypertension, Delayed puberty, C... |
ORPHA:280679 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... |
OMIM:617916 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Microcephaly, Gliosis, Cardiomyopathy |
OMIM:615119 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Cerebral calcification, Hydro... |
ORPHA:85335 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy, Hemiparesis, Gliosis |
OMIM:613002 |
| Slc35A2-Cdg |
|
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... |
ORPHA:356961 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Microcephaly, Hemiparesis, Hydrocephalus |
ORPHA:398189 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Abnormality of extrapyramidal motor function, Growth delay, Cerebral atrophy, Abnormal pyramidal ... |
OMIM:616271 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Subependymal cysts, Macrocephaly, Multifocal cerebral white... |
OMIM:600721 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Abnormal pyram... |
OMIM:617225 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Clonus, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebell... |
OMIM:612389 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... |
ORPHA:2148 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... |
ORPHA:255 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... |
ORPHA:572 |
| Cog5-Cdg |
|
Neurogenic bladder, Truncal ataxia, Cerebral white matter atrophy, Brain atrophy, Cerebellar atro... |
ORPHA:263487 |
| Hsd10 Disease |
|
Tremor, Choreoathetosis, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Ataxia, Frontot... |
ORPHA:391417 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar... |
ORPHA:401815 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthosta... |
ORPHA:2822 |
| Menkes Disease |
|
Sparse hair, Intracranial hemorrhage, Hypertonia, Short stature, Intrauterine growth retardation,... |
OMIM:309400 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... |
OMIM:614831 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Mic... |
OMIM:610127 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Attention deficit hyperactivity disorder, Sparse eyebrow, Absent eyelashes, Sparse eyelashes, Abs... |
ORPHA:544488 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Gait ataxia, Tremor, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... |
OMIM:607317 |
| Peho-Like Syndrome |
|
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atrophy, Polymicrogyr... |
OMIM:617507 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Low anterior hairline, Gait ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebell... |
ORPHA:320385 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... |
OMIM:613860 |
| Cd8 Deficiency, Familial |
|
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... |
OMIM:608957 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Hirsutism, Cerebellar atr... |
OMIM:618006 |
| Sneddon Syndrome |
|
Hemiplegia, Tremor, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Increased CSF lactate, Lethargy, Paralysis |
OMIM:613710 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Premature graying of hair, Cerebral hemorrhage, Stroke-like episode, Abnorma... |
OMIM:300845 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, He... |
ORPHA:2182 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia |
OMIM:614082 |
| Hydrocephalus With Cerebellar Agenesis |
|
Cerebellar agenesis, Hydrocephalus |
OMIM:307010 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... |
OMIM:611390 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia, Ankle clon... |
OMIM:617435 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Bra... |
ORPHA:79263 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... |
OMIM:159550 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin inf... |
ORPHA:217390 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... |
OMIM:615768 |
| Lissencephaly 5 |
|
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615191 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... |
ORPHA:98759 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Neurodegeneration, Absent pubertal growth spurt, Telangiectasia of the skin, Cerebel... |
ORPHA:438134 |
| Hemochromatosis, Type 3 |
|
Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism |
OMIM:604250 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:613163 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Myopathy, Hypoglycemia |
ORPHA:366 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Long eyelashes, Cerebral calcification, Myoclonus, Microcephaly, Hydrocephalus,... |
OMIM:617281 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Ventriculomegaly, Abnormal cerebral white matter morphology, Excessive daytime somnolen... |
ORPHA:2169 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615957 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly |
OMIM:603552 |
| Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Waddling gait, Int... |
OMIM:617557 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Ventriculomegaly, Gait disturbance, Ataxia, Increased CSF protein, Leukoencephalopathy, C... |
OMIM:603472 |
| Glutamine Deficiency, Congenital |
|
Hypoplasia of the corpus callosum, Brain atrophy, Subependymal cysts, Neonatal death, Bradycardia... |
OMIM:610015 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Neurofibrillary tangles, Gliosis, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, ... |
OMIM:607485 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... |
ORPHA:363710 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... |
OMIM:300894 |
| Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm |
OMIM:618734 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Recurrent... |
ORPHA:911 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Immunodeficiency 55 |
|
Short stature, Neutropenia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:617827 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... |
OMIM:105550 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... |
ORPHA:331235 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Clumsiness, Intraventricular hemorrhage, Abnormal cerebral white mat... |
ORPHA:420741 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Hyperactivity |
OMIM:609924 |
| Papilloma Of Choroid Plexus |
|
Hemiplegia/hemiparesis, Hypertonia, Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Malan Overgrowth Syndrome |
|
Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Macrocephaly, Low posterior... |
ORPHA:420179 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
ORPHA:211017 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Abnormal periventricular white matter morphology, Gliosis, Abnormal cerebral white matter morphol... |
OMIM:277470 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Ataxia |
OMIM:266130 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... |
OMIM:307200 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... |
OMIM:617672 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Dilati... |
ORPHA:488627 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke |
OMIM:603284 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... |
ORPHA:169160 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Intrauterine growth retardation, Micro... |
OMIM:615095 |
| Isolated Agammaglobulinemia |
|
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Otitis media, T... |
ORPHA:229717 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... |
OMIM:612319 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Abnormal periventricular white matter morphology, Spastic paraparesis, Abnormal cerebra... |
ORPHA:395 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic sinusitis, Wheezing, Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, C... |
OMIM:613807 |
| Alg13-Cdg |
|
Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy |
ORPHA:324422 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Hypoplasia of the corpus callosum, Dilation of lateral ventricles |
OMIM:616816 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Upper limb spasticity, Increased CSF lactate, Cerebral atrophy, Cerebellar hypoplasia, Cerebellar... |
OMIM:611523 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic paraplegia, Cerebral atrophy, Limb hypertonia, Dilation of lateral ventricles, Partial ag... |
OMIM:617296 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Cerebellar at... |
OMIM:618404 |
| Scedosporiosis |
|
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pulmonary tuberculosis, Pneumonia, ... |
ORPHA:449280 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Short nose, Pneumonia, Recurrent infections, High palate, Anteverted nares, Chronic bronchitis, D... |
OMIM:614069 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Clumsiness, Global brain atrophy, Diffuse spongiform leukoencephalopathy, Spastic h... |
ORPHA:282166 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication, Abnormal cere... |
ORPHA:254886 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Bruising suscepti... |
ORPHA:231401 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Ventriculomegaly, Brain atrophy, Hydranencephaly, Macrocephaly, Hydrocephalus,... |
OMIM:617967 |
| Ciliary Dyskinesia, Primary, 34 |
|
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... |
OMIM:617091 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hemochromatosis, Type 2A |
|
Infertility, Lethargy, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hypo... |
OMIM:602390 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood, Severe short stature |
OMIM:302000 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Tremor, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the co... |
OMIM:617248 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... |
ORPHA:320391 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... |
OMIM:616291 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia o... |
ORPHA:85278 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Spasticity, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Parti... |
OMIM:304100 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Short stature, Microcephaly, Rigid... |
OMIM:612438 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Coma, Delirium, Lethargy, Ataxia, Stroke, Confusion, Drowsiness, Cerebral ischemia, Stereotypy, M... |
ORPHA:927 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... |
OMIM:615157 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Difficulty walking, Hypoplasia of the corpus callosum, Intention tremor, Cerebellar ... |
ORPHA:98 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Ventriculomegaly, Lethargy, Agenesis of corpus callosum |
OMIM:610498 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Recurrent viral infections, Pneumonia, Recurre... |
ORPHA:486 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Immunodeficiency 32B |
|
Bronchiectasis, Pneumonia, Splenomegaly, Recurrent infections, Sinusitis, Recurrent respiratory i... |
OMIM:226990 |
| Caribbean Parkinsonism |
|
Dystonia, Apraxia, Orthostatic hypotension, Progressive gait ataxia, Ventriculomegaly, Midline br... |
ORPHA:97355 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration |
OMIM:610951 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Skin rash, Recurrent bacterial skin infections, Cough, Decreased proportion of CD4-positive helpe... |
ORPHA:276 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Death in infancy, Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Cerebral hemorrhage, Stroke |
OMIM:105150 |
