| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| 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 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Lateral ventricle dilatati... |
ORPHA:306669 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Depression, Lateral ventricle dilatation,... |
OMIM:615889 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Microcephaly, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration of anterior ... |
OMIM:607596 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Lissencephaly 4 |
|
Short stature, Babinski sign, Growth delay, Colpocephaly, Hypertonia, Cerebellar hypoplasia, Prim... |
OMIM:614019 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
| Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Spasticity, Agenesis of corpus callosu... |
OMIM:600348 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... |
OMIM:608971 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Microcephaly, Basal ganglia gliosis, Inability to walk, Cerebellar gliosis, Partial agene... |
ORPHA:79243 |
| Dural Sinus Malformation |
|
Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Abnormal cerebellum morpholog... |
ORPHA:97339 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Chiari type I malformation, Macrocephaly, Ventriculomegaly, Moyamoya... |
ORPHA:401986 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... |
OMIM:618276 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, Progressive macrocephaly, Truncal ataxia, Cerebral atrophy, Dys... |
ORPHA:135 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Latera... |
ORPHA:77299 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Stroke, Gait dist... |
ORPHA:542310 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Macrocephaly, Ventriculo... |
OMIM:611808 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Depression, Intr... |
ORPHA:136 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast... |
OMIM:613925 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Lateral ventricle dilatation, Gliosis, Myoclonu... |
OMIM:221770 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... |
OMIM:279000 |
| Masa Syndrome |
|
Lower limb spasticity, Short stature, Microcephaly, Hydrocephalus, Spastic paraplegia, Paraplegia... |
OMIM:303350 |
| Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus, Apathy, Macrocephaly |
ORPHA:99966 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Depress... |
OMIM:615362 |
| Martsolf Syndrome 2 |
|
Short stature, Microcephaly, Spastic diplegia, Lateral ventricle dilatation, Brain atrophy |
OMIM:619420 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Progressive microc... |
OMIM:617862 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Microcephaly, Partial agenesis of the corpus callosum, Lateral ... |
OMIM:619517 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-based gait, R... |
OMIM:607136 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Synophrys, Hydrocephalus, Lobar holopros... |
OMIM:609637 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Tetraplegia, Growth delay, Hypertonia, Lethargy, Agenesis of corp... |
OMIM:274270 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Vascular granular osmiophilic ma... |
ORPHA:168486 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Depression, Lower limb hypertonia, ... |
OMIM:618369 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, Depression, Lethargy |
ORPHA:73256 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebral atrophy, Primary microcephaly |
OMIM:618266 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression, Gliosis, Neuronal lo... |
OMIM:143100 |
| Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Microcephaly, Corpus callosum atrophy, Abnormal cer... |
ORPHA:565624 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... |
OMIM:611252 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, Lateral ventricle ... |
OMIM:617397 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Gait disturbance, Stroke, Myoclonus |
ORPHA:324708 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial infections, Neu... |
OMIM:193670 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Microcephaly, Progressive microcephaly, Ventriculomegaly |
OMIM:613402 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral ... |
OMIM:616430 |
| Brain Small Vessel Disease 2 |
|
Spastic tetraplegia, Intracranial hemorrhage, Growth delay, Hemiplegia, Ventriculomegaly |
OMIM:614483 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... |
ORPHA:36382 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Hydrocephalus, Gait disturbance, Microcephaly |
ORPHA:26 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Short stature, Clonus, Microcephaly, Babinski sign, Spastic tetrap... |
OMIM:619847 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Myoclonus, Dyston... |
OMIM:312170 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Corpus callosum atrophy, Rigidity, Depression, Bradykinesia, Gliosis, Gait disturba... |
OMIM:221820 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Secondary microcephaly, Myoclonus, Difficulty walking, Dystonia, Letha... |
OMIM:617829 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Spastic tetraparesis, Microcephaly, Lateral ventricle dilatation, Dystonia, Cerebral cortical atr... |
OMIM:617668 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Lateral ... |
OMIM:256850 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Oromotor apraxia, Hemiparesis, Lateral ... |
ORPHA:300573 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Cerebellar hemisphere hypoplasia, Gliosis, Prim... |
OMIM:615095 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Tremor, Abnormal cerebellum morphology... |
OMIM:300957 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... |
OMIM:618291 |
| Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Highly arched eyebrow, Microcephaly, Pate... |
OMIM:617751 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Neutropenia |
ORPHA:90023 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Chiari type I malformation, Spasticity, ... |
OMIM:619742 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Ventriculome... |
OMIM:618730 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Ataxia, Babinski sign, Scissor gait, Unsteady gait, Diffuse cerebellar atr... |
ORPHA:101010 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Microcephaly, Hydrocephalus, Low anterior hairline, Cerebral atrophy, Retrocerebellar c... |
OMIM:614219 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Growth delay, Cerebellar ... |
ORPHA:488635 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia... |
OMIM:607594 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Microcephaly, Intraventricular hemorrhage, Spastic tetraplegia, Increased CSF lactate, Pr... |
OMIM:619055 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Patent ductus arteriosus, Short stature, Lateral ventricle dilatation |
OMIM:618330 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Microcephaly, Inability to walk, Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:618709 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Unilateral Hemispheric Polymicrogyria |
|
Hemiparesis, Lateral ventricle dilatation |
ORPHA:101071 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Microcephaly, Spastic tetraplegia, Eyelid myoclonus, Growth del... |
ORPHA:208447 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Macrocephaly, Spasticity, Agenesis of cor... |
OMIM:307000 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ... |
OMIM:607317 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
| Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Ataxia, Microcephaly, Inability to walk, Babinski si... |
OMIM:614255 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth retardation, Spasticity, Ce... |
OMIM:617065 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... |
OMIM:610245 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Ataxia, Parkinsonism, Paralysis, CSF pleocytosis,... |
ORPHA:140989 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Leukopenia, Athetosis, Neutropenia... |
OMIM:229050 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a... |
ORPHA:248111 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... |
ORPHA:521406 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Babinski sign, Abnormal pons morphology, Progressive spasticity, Difficulty walking, Cerebellar c... |
ORPHA:171622 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
| Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Spastic tetraparesis, Lateral ventricle dilatation, Hypertonia, Myo... |
ORPHA:284417 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Lower limb spasticity, Microcephaly, Inability to walk, Cerebral atrophy, Upp... |
OMIM:618468 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Severe postnatal growth retardation, Lateral ventricle di... |
ORPHA:3078 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Protein-losing e... |
OMIM:613502 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Low poster... |
OMIM:618606 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Cerebral atrophy... |
OMIM:616034 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Slurred speech, Ventriculomegaly, Gait ataxia |
OMIM:619323 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Brain atrophy, Macrocephaly, Ventriculo... |
OMIM:613603 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells,... |
OMIM:613501 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus, Mild fetal ventriculomegaly, Neonatal death, Lethargy, Agenesis of corp... |
OMIM:610498 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypertonia, Spasticity, Microcephaly |
OMIM:618890 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Tetralogy of F... |
OMIM:250620 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Progressive macrocephaly, Dysmetria, Spasticity, Apathy, Ab... |
OMIM:203450 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Microcephaly, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia... |
OMIM:225753 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Microcephaly, Babinski sign, Limb ataxia, Gait... |
OMIM:614322 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... |
OMIM:613860 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ... |
OMIM:616127 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Trem... |
OMIM:610185 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Microcephaly, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, ... |
OMIM:614959 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Increased CSF valine concentration, Microcephaly, Increased CSF isoleucine concentration,... |
OMIM:246900 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Hypoplasia of the pons, Low anterior hairline, Lateral ventricle dilatation, Spina ... |
OMIM:618736 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Paralysis, Difficulty walking, Increased CSF lactate |
OMIM:613710 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Microlissencephaly |
|
Cerebellar atrophy, Microcephaly, Hypertonia, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1083 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a... |
OMIM:604326 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative ... |
OMIM:617638 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Global brain atrophy, Clumsiness |
ORPHA:324422 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
| Hemimegalencephaly |
|
Abnormal neuron morphology, Hemiparesis, Gliosis, Myoclonus, Macrocephaly, Ventriculomegaly |
ORPHA:99802 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Spina bifi... |
OMIM:616602 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia |
ORPHA:2807 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide,... |
OMIM:620197 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Microcephaly, Babinski sign, Spastic tetraplegia, Gli... |
OMIM:612936 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Growth delay, Choreoatheto... |
ORPHA:765 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Myocardial infarction, Microcephaly, Tremor, Depression, Hyperkinetic movements, U... |
ORPHA:457240 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Babinski sign, Cerebral atrophy, ... |
OMIM:619090 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... |
ORPHA:2182 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Secondary microcephaly, Myoclonus, Ga... |
OMIM:618241 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising susceptibility, HbH hemogl... |
ORPHA:231401 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Limb hypertonia, Colpocephaly, Cerebellar hypoplasia, Difficulty walking, ... |
ORPHA:401815 |
| Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Stroke, Ischemic stroke, Hemiplegia |
OMIM:182410 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Microcephaly, Hydrocephalus, Abnormal pyramidal sign, Cerebral atrophy, Abnorm... |
OMIM:300884 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy |
OMIM:619302 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, La... |
OMIM:608629 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Increased CSF lactate, Growth delay, Bra... |
OMIM:618226 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
| Glycine Encephalopathy 1 |
|
Lethargy, Agenesis of corpus callosum, Myoclonus |
OMIM:605899 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Decreased re... |
OMIM:307200 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Short stature, Neutropenia |
OMIM:610798 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Brain atrophy, Neonatal death, Dec... |
OMIM:610015 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tr... |
ORPHA:25 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... |
ORPHA:397596 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Increased CSF lactate, Myoclonus, Brain atrophy, Macrocephaly, Lethargy, Spasticity |
OMIM:618225 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Short stature, Highly arched eyebrow, Spastic tetraparesis, Inability to walk... |
ORPHA:438178 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Impotence, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Arthritis,... |
OMIM:300310 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cardiac arrest, Basal ganglia gliosis, Cerebral atrophy, Increased CSF lactat... |
OMIM:604377 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial in... |
OMIM:240500 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... |
OMIM:615872 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Dilation of Virchow-Robin spaces, Cerebral palsy, Poor gross motor coordination, Lateral ventricl... |
ORPHA:2148 |
| Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurogenic bladder, Short stature, Microcephaly, Tr... |
ORPHA:263487 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertensi... |
ORPHA:280679 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... |
OMIM:209920 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
| L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Depression, Gait disturbance, Spasticity |
ORPHA:275543 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumoni... |
ORPHA:169160 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebellar atrophy, Cerebral palsy, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Spast... |
OMIM:618973 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Short stature, Dextrotransposition of the great arteries, Ankle clonus, Lateral ventricle dilatat... |
OMIM:619995 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:618801 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:79326 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Spastic tetraparesis, Microcephaly, Inability to walk, Cerebra... |
ORPHA:356961 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Microcephaly |
OMIM:611726 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... |
OMIM:109150 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, Arthritis, T lymphocy... |
OMIM:601457 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Hemiparesis, Microcephaly |
ORPHA:398189 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Microcephaly, Inability to walk, Chorea, Cerebral atrophy,... |
OMIM:614254 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar p... |
OMIM:613908 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Dystonia, Involuntary movements, Microcephaly, Chorea, Cerebral atrophy, Athe... |
OMIM:617493 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the ... |
ORPHA:845 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Lateral ventricle dilatation, Gliosis, Apathy, Apraxia, Neuronal loss in central ne... |
OMIM:607485 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cessation of head growth, Unsteady gait, Gliosis, Gait disturbance, Macrocephaly, Lethargy, Spast... |
OMIM:603896 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Sneddon Syndrome |
|
Tremor, Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Hemiparesis |
ORPHA:820 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjun... |
OMIM:612692 |
| Glutaric Acidemia I |
|
Dystonia, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventr... |
OMIM:231670 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypertonia, Seconda... |
OMIM:618174 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Abnormal pyramidal sign, Brain atrophy, Lethargy, Hypertrophic cardiomyopathy, Ventriculo... |
OMIM:618228 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,... |
OMIM:619389 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Microcephaly, Cardiomyopathy, Hypertonia, Dystonia, Intrauterine growth retardation, Lethargy |
ORPHA:26792 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebellar hypo... |
OMIM:304100 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Growth delay, Dystonia, Spasticity |
OMIM:617899 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Macrocephaly |
OMIM:600721 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Dystonia, Postnatal growth retardation... |
ORPHA:300570 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Lethargy, Intrauterine growth retardation |
ORPHA:79284 |
| Severe Canavan Disease |
|
Inability to walk, Babinski sign, Decerebrate rigidity, Macrocephaly, Lethargy, Spasticity |
ORPHA:314911 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... |
ORPHA:449280 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Growth delay, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:289916 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Ataxia, Cerebral cortical atrophy |
ORPHA:622 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Inability to walk, Agenesis of corpus callosum, Appendicular spasticity |
OMIM:618324 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Low anterior hairline, Hirsutism, C... |
OMIM:619244 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Spastic tetraparesis, Brain atrophy, Microcephaly |
OMIM:618741 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ventriculomegaly, Microcephaly, Neurodegeneration, ... |
OMIM:214150 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Broad-based gait, Short stature, Babinski sign, Abnormal pyramidal si... |
ORPHA:363429 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:224050 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Abnormal cerebellum morphology, Hydrocephalu... |
ORPHA:1532 |
| Malan Overgrowth Syndrome |
|
Low posterior hairline, Lateral ventricle dilatation, Macrocephaly, Episodic ataxia, Ventriculome... |
ORPHA:420179 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus |
OMIM:619470 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Ataxia, Depression, Limb fasciculations, S... |
OMIM:615157 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Short stature, Ataxia, Po... |
ORPHA:1170 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy |
OMIM:618224 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Sepsis, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumon... |
OMIM:617053 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebellar hypoplasia, Cerebral hemorrhage |
OMIM:300049 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depress... |
ORPHA:71517 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Cerebral palsy, Epistaxis, Abnormal cerebral vascular morpholog... |
ORPHA:53719 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Intr... |
OMIM:619922 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Short stature, Microcephaly, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Gliosis, Fasc... |
OMIM:604484 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph... |
OMIM:613811 |
| Medulloblastoma |
|
Ataxia, Cerebellar calcifications, Hydrocephalus, Cerebellar hemorrhage, Progressive macrocephaly... |
ORPHA:616 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Alopecia, Spina bifida, Microcephaly, Postnatal growth retardation, Intraventricu... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Alopecia, Spina bifida, Microcephaly, Postnatal growth retardation, Intraventricu... |
ORPHA:363958 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| X-Linked Intellectual Disability, Wilson Type |
|
Abnormal position of hair whorl, Lateral ventricle dilatation, Growth delay, Microcephaly |
ORPHA:85290 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
| Hydranencephaly |
|
Ventriculomegaly, Abnormal internal carotid artery morphology, Postnatal growth retardation, Dila... |
ORPHA:2177 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Dysmetria, S... |
OMIM:616680 |
| Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia... |
ORPHA:251347 |
| Alexander Disease |
|
Ataxia, Clonus, Sudden cardiac death, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnorma... |
ORPHA:58 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Microcephaly, Tip-toe gait, Difficulty walking, Frequent falls, Ventriculomeg... |
ORPHA:370980 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Cerebral atrophy, Lateral ventricle ... |
OMIM:617296 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Dilation of Virchow-Robin spaces, ... |
ORPHA:544488 |
| Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Vascular dilatation, Ventriculomegaly |
OMIM:602200 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Neutropenia, Recurrent fungal infecti... |
OMIM:614172 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Macrocephaly, Gait d... |
OMIM:617013 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Increased CSF phenylalanine concentration, Hyperkinetic moveme... |
OMIM:233910 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... |
OMIM:616981 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign,... |
OMIM:617225 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Increased CSF lacta... |
OMIM:614946 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gai... |
ORPHA:488627 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... |
ORPHA:244 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spinal cord, Paraparesis, Inability... |
ORPHA:2822 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613808 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Ventriculomegaly, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytos... |
OMIM:610333 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Hsd10 Disease |
|
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Frontotemporal cerebral atr... |
ORPHA:391417 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Ataxia, Microcephaly, Intraventricular hemorrhage, Te... |
ORPHA:420741 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Vascular granular osmiophilic material deposition, Clums... |
ORPHA:79262 |
| Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Intracranial hemorrhage, Hemiparesis, Chiari malformation, Aplasia... |
ORPHA:2481 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Corpus callosum atrophy, Rigidity, Bab... |
OMIM:614877 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Upper mot... |
ORPHA:395 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Alobar holoprosencephaly, Aqueductal stenosis... |
OMIM:619895 |
| 1Q21.1 Microduplication Syndrome |
|
Hypertonia, Hydrocephalus, Tetralogy of Fallot, Macrocephaly |
ORPHA:250994 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spastic tetraplegia, Dystonia, Spa... |
ORPHA:599373 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Decrea... |
OMIM:605407 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... |
OMIM:300845 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity... |
OMIM:615599 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Microcephaly, Increased CSF lactate, Neurodegeneration, Gliosis, Spasticity, ... |
OMIM:616239 |
| Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Gastro... |
ORPHA:443811 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:607091 |
| Ogden Syndrome |
|
Ventriculomegaly, Torticollis, Postnatal growth retardation, Pulmonary artery stenosis, Cerebral ... |
ORPHA:276432 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Spinocerebellar Ataxia Type 43 |
|
Unsteady gait, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Cerebe... |
ORPHA:497764 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Lateral ventricle dilatation, Dystonia, Microcephaly |
OMIM:614105 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Cogwheel r... |
ORPHA:254886 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
| Distal Deletion 10Q |
|
Short stature, Clonus, Ataxia, Microcephaly, Postnatal growth retardation, Patent ductus arterios... |
ORPHA:96148 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Increased CSF ... |
OMIM:615838 |
| Congenital Disorder Of Glycosylation, Type Iiz |
|
Appendicular spasticity, Diffuse cerebellar atrophy, Clonus |
OMIM:620201 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Chronic bronchitis, Ab... |
OMIM:614874 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:94080 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
| Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia |
ORPHA:468661 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Microcephaly, Cardiomyopathy, Gliosis, Hypertrophic cardiomyopathy |
OMIM:615119 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Stroke-like episode,... |
OMIM:619272 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Ventriculomegaly |
OMIM:619561 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Patent ductus arter... |
OMIM:220220 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:79312 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Microcephaly, Sparse... |
OMIM:617193 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Microcephaly, Rigidity, Babinski sign, Hypertonia, Gliosis, Bradycardia, Myoclonic spasms... |
OMIM:614498 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Leth... |
ORPHA:99828 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... |
OMIM:603554 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
| Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... |
OMIM:183090 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebella... |
ORPHA:139485 |
| Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly, Macrocephaly |
ORPHA:2185 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Babinski sign, Increased CSF lactate, Choreoatheto... |
OMIM:619054 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Thick eyebrow, Ventriculomegaly, Ataxia, Microcephaly, Tremor, Inability t... |
OMIM:619229 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Telangiectasia of the skin, Short stature, Absent pubertal growth spurt, Reti... |
ORPHA:438134 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, C... |
OMIM:618321 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Iner... |
ORPHA:216873 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Babinski sign, Spastic dysarthria... |
ORPHA:280763 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Microcephaly, Abnormal pyramidal sign, Hemiparesis, Abnormality of extr... |
ORPHA:352596 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Microcephaly, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Central nervous... |
ORPHA:447788 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Corpus callosum atrophy, Growth delay, Athetosis, Tetra... |
OMIM:619310 |
| Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Microcephaly, Babinski sign, Intracranial hemorrhage, Hype... |
OMIM:309400 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Apathy, Shuff... |
ORPHA:306692 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Persistent fetal circulation, Tricuspid regurgitation, Sparse eyel... |
OMIM:612863 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Dilated cardiomyopathy, Spastic parapleg... |
ORPHA:254913 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance |
ORPHA:79283 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Highly arched... |
OMIM:614424 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... |
ORPHA:98759 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:614935 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic diarr... |
OMIM:616005 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Abnormal pyramidal sign, Spastic gait, Dysmetria, Spastic paraplegia, ... |
OMIM:238970 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Microcephaly, Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral at... |
OMIM:616154 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Hydrocephalus,... |
OMIM:304340 |
| Perching Syndrome |
|
Cyanosis, High palate, Dysphagia |
OMIM:617055 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Superficial Siderosis |
|
Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Abnormal pyramidal sign, Dysme... |
ORPHA:247245 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... |
OMIM:618088 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... |
OMIM:613193 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Inability to walk, Hydrocephalus, Abnormal left ventr... |
OMIM:613155 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... |
ORPHA:98 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Agenesis of corpus callosum, Gliosis, Ventriculomegaly |
OMIM:300215 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Progressive macrocephaly, Abnormal pyramidal sign, Spa... |
ORPHA:363717 |
| Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Postnatal growth retardation, Hydrocephalus, Hypertension, Lower limb hypertonia, L... |
ORPHA:2169 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gliosis, Myoclonus, Gait distur... |
OMIM:168601 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
| Immunodeficiency 102 |
|
Severe varicella zoster infection, Sepsis, Leukopenia, Hypothyroidism, Hepatomegaly, Autoimmune t... |
OMIM:301082 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, Hypertroph... |
OMIM:620270 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Depression, Pseud... |
OMIM:169500 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Gliosis, Falls, Dystoni... |
ORPHA:683 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Synophrys, Lateral ventricle dilatation, Sparse hair, Parietal cortic... |
OMIM:620075 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... |
OMIM:617916 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Short stature, Steatorrhea, Neutropenia |
OMIM:618752 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Depres... |
OMIM:605361 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Microcephaly, Spastic tetraparesis, Spastic tetraplegia, Cereb... |
OMIM:619487 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy, Microcephaly |
OMIM:615596 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Growth delay, Hypertonia, H... |
OMIM:619738 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Growth delay, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Lethargy... |
OMIM:614857 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... |
ORPHA:137898 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
| Craniotelencephalic Dysplasia |
|
Microcephaly, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:1528 |
| Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granules, Thr... |
ORPHA:238459 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Microcephaly, Rigidit... |
OMIM:610127 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Myoclonus, Progressive microcephaly |
OMIM:617507 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Maternal diabetes, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil... |
ORPHA:464370 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Premature graying of hair, Hemophagocytosis, ... |
ORPHA:79477 |
| Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spastic dysarthria, Progressiv... |
ORPHA:101111 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Esophageal stricture, Cheilitis... |
OMIM:615468 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Neurogenic ... |
ORPHA:276244 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, I... |
ORPHA:449285 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Ankle clonu... |
OMIM:607565 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature, Rhizomelia, Microcephaly, Postna... |
OMIM:611209 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... |
OMIM:613154 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retr... |
OMIM:617284 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... |
ORPHA:314632 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, H... |
OMIM:614409 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Short stature, Microcephaly, Low anterior hairline, Cerebral atrophy, Dysmetr... |
ORPHA:320385 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc... |
ORPHA:98850 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait dis... |
ORPHA:98764 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Uns... |
OMIM:616479 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Cyclic Vomiting Syndrome |
|
Ataxia, Microcephaly, Growth delay, Cardiomyopathy, Lethargy |
OMIM:500007 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness |
OMIM:610003 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Aortopulmonary collateral arteries, Sparse eyebrow, Tremor, Lateral ventricle dila... |
OMIM:617557 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Neutrope... |
OMIM:601495 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Chronic diarrhea, Severe v... |
ORPHA:98813 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f... |
OMIM:301020 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur... |
ORPHA:401901 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Increased CSF homovanillic acid concentration,... |
OMIM:613135 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Substantia nigra gliosis, Facia... |
ORPHA:276241 |
| Christianson Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Dystonia, Microcephaly, Gait ataxia, Truncal ataxia, Aplasi... |
ORPHA:85278 |
| Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Babinski sign, Spastic tetraplegia,... |
OMIM:252650 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Dysmetria, Secondary microcephaly, Atrop... |
OMIM:617954 |
| Pick Disease Of Brain |
|
Diminished motivation, Neuronal loss in central nervous system, Gliosis, Apathy |
OMIM:172700 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ... |
ORPHA:251282 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrop... |
OMIM:617710 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Growth delay, Hirsutism |
OMIM:618006 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Meckel diverticulum, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Neut... |
OMIM:616395 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Spastic tetraplegia, Dystonia, Neonatal death, Intrauterine growth retardatio... |
OMIM:618237 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Subarachnoid hemorrhage, ... |
ORPHA:2356 |
| Classic Galactosemia |
|
Speech apraxia, Incoordination, Ataxia, Postural tremor, Dystonia, Clumsiness, Depression, Gait d... |
ORPHA:79239 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus |
OMIM:612016 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Neutropenia |
ORPHA:2643 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Subcortical cerebr... |
ORPHA:33445 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature, Cleft palate |
ORPHA:2901 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemi... |
ORPHA:331206 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... |
OMIM:147060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Low anter... |
OMIM:613153 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Microcephaly, Trem... |
OMIM:312080 |
| Periventricular Nodular Heterotopia 8 |
|
Spasticity, Cerebellar vermis atrophy |
OMIM:618185 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Pneumonia, Eczema, Splenomegaly, Asthma, Ch... |
OMIM:607271 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage, Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spastic... |
ORPHA:88619 |
| Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Liver abscess... |
ORPHA:31202 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb... |
ORPHA:284324 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Cerebellar atrophy, Inability to walk, Growth delay, Secondary microcephaly, Spasticity |
OMIM:617086 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesi... |
OMIM:619955 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Lateral ventricle dilatation, Hypertonia, Pulmonic stenosis |
OMIM:618914 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
| Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Short stature, Cerebral atrophy, Athetosis, Secondary microcephaly, Dystonia,... |
OMIM:617132 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Microcephaly, Sparse eyebrow, Inability to walk, Cerebral atrophy, Lateral ven... |
ORPHA:464738 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial in... |
ORPHA:169090 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Lethargy, Arr... |
ORPHA:99745 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Babinski sign, Spastic tetraplegia, Dysmetria, Secondary microcepha... |
OMIM:618404 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Inability to walk by childho... |
ORPHA:99947 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Dys... |
ORPHA:36238 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, L... |
ORPHA:49827 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obli... |
OMIM:615518 |
| Leigh Syndrome |
|
Chorea, Choreoathetosis, Gliosis, Frontal hirsutism, Agenesis of corpus callosum, Alopecia, Ataxi... |
ORPHA:506 |
| Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Gastroesophageal reflux... |
ORPHA:125 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss... |
OMIM:604218 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, Supernume... |
ORPHA:397715 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Cerebral atrophy, Hypertonia, Hyperkinetic movements, Gait disturbance, Lethargy, Cerebral cortic... |
OMIM:236270 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Lateral ... |
OMIM:619745 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Ataxia, Depression, Difficulty walking, Cerebral cortical atrophy |
OMIM:619425 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Gliosis, Apathy, Shuf... |
ORPHA:411602 |
| Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Highly arched eyebrow, Microcephaly, Cerebral atrophy, Spasticity, Ventriculo... |
OMIM:618008 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... |
OMIM:612541 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Broad-based gait, Anemia, Neutropenia |
OMIM:618067 |
| Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Microcephaly, Synophrys, Partial agenesis of the corpus callosum, Spasticity,... |
OMIM:616212 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Clonus, ... |
ORPHA:370959 |
| Developmental And Epileptic Encephalopathy 41 |
|
Microcephaly, Inability to walk, Babinski sign, Cerebral atrophy, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... |
ORPHA:169079 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Gastroesophageal reflux, Ataxia, Neutropenia |
OMIM:620012 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Clonus, Microcephaly, Chorea,... |
OMIM:612389 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Splenomegaly, Recur... |
OMIM:602450 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degene... |
OMIM:619971 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Pure red c... |
OMIM:613179 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus |
ORPHA:1935 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, CSF pleocytosis, Rigidity, Syncope, Gait disturbance, Increased CSF protein conce... |
OMIM:603472 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Microcephaly, Dilated cardiomyopathy, Lethargy, Arrhythmia, Agenesis of corpus ... |
OMIM:608836 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... |
ORPHA:79097 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Microcephaly, Synophrys, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Intrauterine growth retardation, Short stature, Anemia, Neutropenia |
OMIM:617056 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Dilation of Virchow-Robin spaces, Elongated superior cerebel... |
OMIM:619512 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Cephaloh... |
ORPHA:853 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Microcephaly, Supernumerary nipple, Inability to walk, Synophrys, Hirsutis... |
OMIM:615485 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres... |
ORPHA:496689 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dysto... |
OMIM:612438 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Microcephaly, Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extra... |
OMIM:277470 |
| Aicardi-Goutieres Syndrome 6 |
|
Microcephaly, Tremor, CSF pleocytosis, Rigidity, Increased CSF interferon alpha, Dystonia, Loss o... |
OMIM:615010 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ata... |
OMIM:605259 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... |
OMIM:619705 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Increased ... |
OMIM:618982 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Uns... |
ORPHA:420492 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Hydrocephalus, Hematochezia, Chiari type I malformation, Lateral ventricle dilatat... |
OMIM:619575 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla... |
OMIM:619126 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Cerebellar vermis hypoplasia, Short stature, Patent ductus arteriosus, Hydrocepha... |
OMIM:609757 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Increased CSF lactate, Abnormality of extrapyramidal motor fu... |
OMIM:605711 |
| Leigh Syndrome |
|
Ataxia, Increased CSF lactate, Gliosis, Dystonia, Spasticity, Hypertrichosis |
OMIM:256000 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Titubation, Glios... |
ORPHA:280210 |
| Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... |
ORPHA:98761 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycard... |
OMIM:616299 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Thick hair, Dy... |
ORPHA:357058 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... |
ORPHA:1947 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Oculomotor apraxia, Agenesis of corpus... |
OMIM:619111 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Severe short stature, Ataxia, Microcephaly, Abnormal pyramidal sign, Cerebral... |
OMIM:617951 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Short stature, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Microcephaly, Paraplegia, Cerebral ischemia, Stroke, Lethargy |
ORPHA:927 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Degeneration of the lat... |
OMIM:607259 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm... |
OMIM:607694 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus |
OMIM:619303 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Microcephaly, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dystoni... |
OMIM:300475 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria... |
OMIM:619780 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... |
OMIM:117360 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Axonal degeneration, Babinski sign, Dysm... |
OMIM:302800 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Weaver Syndrome |
|
Patent ductus arteriosus, Slurred speech, Fine hair, Poor fine motor coordination, Lateral ventri... |
OMIM:277590 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... |
OMIM:242700 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Micr... |
ORPHA:335 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Dystonia,... |
OMIM:611390 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, P... |
OMIM:613490 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Thrombocytopenia, Macrothrombocytopenia, Neutropenia, Subcutaneous hemorrhage |
OMIM:603585 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Cerebellar hypoplasia, Brain atrophy, Cerebellar agenesis, Holopr... |
OMIM:617967 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary microcephaly, ... |
ORPHA:397951 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... |
ORPHA:329284 |
| Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Cerebral atrop... |
ORPHA:544469 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Lower limb spasticity, Alopecia, Speech apraxia, Postural tremor, Hypoplasia ... |
ORPHA:412057 |
| Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Methemoglobinemia |
ORPHA:621 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Hemiparesis, Agenesis of corpus callosum |
OMIM:617542 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... |
OMIM:618063 |
| Propionic Acidemia |
|
Short stature, Cerebellar hemorrhage, Cerebral atrophy, Cardiomyopathy, Dystonia, Lethargy, Limb ... |
OMIM:606054 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... |
OMIM:306400 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Diarrhea,... |
OMIM:209950 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Involuntary movements, Microcephaly, Babinski sign, Cerebral atrophy, Sinus b... |
OMIM:618397 |
| Cog8-Cdg |
|
Cerebellar atrophy, Ventriculomegaly, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, ... |
ORPHA:95428 |
| Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-... |
ORPHA:2388 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
| Central Precocious Puberty In Male |
|
Astrocytoma, Hydrocephalus, Abnormality of secondary sexual hair, Hypothalamic hamartoma, Optic n... |
ORPHA:649929 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Short stature, Parkinsonism, B... |
ORPHA:3077 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Atrophy/... |
OMIM:271245 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Dilated cardiomyopathy, Spasticity, Abnormality of extrapyramidal motor function, Myoclon... |
OMIM:614299 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Ataxia, Microcephaly, Cardiomyopathy, Lethargy, Spasticity |
ORPHA:2394 |
| Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Synophrys, Upper motor neuron... |
OMIM:619641 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ... |
OMIM:250790 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Microcephaly, Dysplastic corpus callosum, Abnormal pyramidal s... |
OMIM:614833 |
| Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Microcephaly, Eyelid myoclonus, Frontotemporal cerebral atrophy, Atrophy/Dege... |
OMIM:619606 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Cerebel... |
OMIM:615191 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, ... |
OMIM:225790 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Ventriculomegaly, Short stature, Microcephaly, Spastic tetraplegia, Cerebral ... |
OMIM:615851 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, ... |
ORPHA:289494 |
| Meningococcal Meningitis |
|
Shock, CSF pleocytosis, Stroke, Hypotension, Hypoglycorrhachia, Lethargy, Increased CSF protein c... |
ORPHA:33475 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Neurogenic bladder, Short stature, Microcephaly, Truncal ataxia, Cerebral atr... |
OMIM:613612 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia |
OMIM:617207 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventricul... |
ORPHA:324416 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Unsteady gait, Lateral ventricle dilatation, Macrocephaly |
ORPHA:457279 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy |
OMIM:212840 |
| Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Rec... |
OMIM:616433 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutr... |
OMIM:308240 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Imm... |
OMIM:244400 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Hogue-Janssen Syndrome 2 |
|
Microcephaly, Abnormal hair whorl, Hydrocephalus, Inability to walk, Gait ataxia, Agenesis of cor... |
OMIM:616362 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Hyperton... |
ORPHA:1192 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Metrorrhagia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Ecchymosis,... |
ORPHA:520 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... |
ORPHA:3392 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron de... |
ORPHA:37042 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Chiari malformation, Aortic aneurysm |
ORPHA:261102 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... |
OMIM:615491 |
| Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Depression, Bradykinesia, T-wave in... |
ORPHA:228346 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Lethargy |
ORPHA:254857 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... |
OMIM:615924 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Tachycardia |
ORPHA:276608 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Ataxia, Retinal telangiectasia, Esophageal varix, Prem... |
OMIM:617341 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, High anterior hairline, Ataxia, Sparse lateral eyebrow |
OMIM:618879 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, ... |
OMIM:214500 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria, Growth delay, Spasticit... |
OMIM:618438 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Dilated cardiomyopathy, Short stature, Gait imbalance |
OMIM:618120 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Hemopha... |
OMIM:301078 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Br... |
OMIM:258450 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Short stature, Microcephaly, Lateral ventricle ... |
OMIM:618367 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... |
OMIM:300755 |
| Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Hydrocephalus |
OMIM:129850 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Low anterior hairline, Abnormal pyram... |
OMIM:248500 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Grow... |
OMIM:252160 |
| Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Chiari type I malformation, Agenesis of c... |
OMIM:218350 |
| Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia, Truncus arter... |
OMIM:206700 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Hemiparesis, Arteriovenous mal... |
ORPHA:624 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Hypertrichosis, Microcephaly |
OMIM:201550 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Glioma, Microcephaly, Hydrocephalus, Chiari type I malfor... |
OMIM:241800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Neutropenia, Dysphagia, Loss of ambulation, Intrauterine growth retardation |
OMIM:618253 |
| Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Microcephaly, Athetosis, Cerebral cortical atrophy, Progressive micro... |
OMIM:614559 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Dystonia, Spasticit... |
OMIM:618917 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy, Progressi... |
ORPHA:527497 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Microcephaly, Patent ductus arteriosus, Abnormal pons morphology, Lateral ... |
OMIM:300868 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... |
OMIM:616505 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Re... |
OMIM:227650 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Lethargy, Hypertrophic cardiomyopathy |
OMIM:613561 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Secondary mic... |
OMIM:620352 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I malformatio... |
OMIM:618476 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Short stature, Hydrocephalus, Macrocephaly |
ORPHA:1516 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Thrombocytopenia, Neutropenia, Hepatitis,... |
OMIM:308230 |
| Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:600224 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Splenomegaly, Growth delay, Gastroesophageal reflux |
ORPHA:2414 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Chiari ... |
OMIM:207950 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Tracheoesophageal fistula, Anemi... |
OMIM:277380 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Microcephaly, Cerebral atrophy, Progressive cereb... |
ORPHA:263516 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Premature graying of hair, Le... |
OMIM:613989 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Coarctation of aorta, Lateral ventricle dilatation, Cerebellar hypo... |
ORPHA:1692 |
| Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... |
ORPHA:309162 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Spastic tetraplegia, Macrocephaly |
OMIM:300886 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Ataxia, CSF pleocytosis, Dysmetria, Increased CSF lactate |
OMIM:618384 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:276621 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia,... |
OMIM:610246 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Dyspnea, Meningitis, Diarrhea, Splenomegaly, Uveitis, Rest... |
ORPHA:36412 |
| Filippi Syndrome |
|
Cerebellar atrophy, Microcephaly, Postnatal growth retardation, Dystonia, Sparse hair, Intrauteri... |
OMIM:272440 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N... |
OMIM:275350 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Anemia, Neutropenia,... |
ORPHA:398124 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Chronic infec... |
ORPHA:2357 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Increased CSF lactate, Cardiomyopathy, Stillbirth, Myoclonus, Tongue fasciculations, Neonatal dea... |
OMIM:614922 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Increased CSF lactate, Choreoathetos... |
OMIM:617664 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia |
OMIM:128235 |
| Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Hypoplasia of the pons, Aqueductal stenosis,... |
OMIM:620305 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Progressive microcephaly, Hy... |
OMIM:619071 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, ... |
OMIM:261640 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... |
ORPHA:220497 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Galloway-Mowat Syndrome |
|
Short stature, Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Hypertonia, Intrauterin... |
ORPHA:2065 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
ORPHA:380 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Ataxia, Elevated CSF 4-hydroxybutyric acid concentration, Elevated CSF gamma-... |
OMIM:271980 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Cog7-Cdg |
|
Cerebellar atrophy, Postnatal growth retardation, Subcortical cerebral atrophy, Brain atrophy, Pr... |
ORPHA:79333 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Anemia, Colitis, Hemophagocytosis, Neutropenia, ... |
ORPHA:540 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Neurogenic bladder, Babinski sign, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:513436 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Cerebellar atrophy, Short stature, Inability to walk, Cerebral atrophy, Cerebellar vermis atrophy |
OMIM:616721 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Ileus, Anemia, Coombs-positive hemoly... |
OMIM:304790 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Cerebral atrophy, Dysmetria, Tongue fasc... |
OMIM:618170 |
| Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Hypertonia, Neonatal death |
ORPHA:85212 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Cerebellar atrophy, Rhizomelia, Ataxia, Microcephaly, Tremor, Congestive heart... |
OMIM:616271 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Short stature, Malabsorption, Anemia, Glossoptosis, Neutro... |
ORPHA:47 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Vomitin... |
ORPHA:454836 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Tricuspid regurgitation, Cerebral atrophy, Increased CSF lactate, Lethargy, D... |
OMIM:620306 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Synophrys, Gait disturbance, Hypertrichosis |
ORPHA:85317 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Ventriculomegaly, Cerebral palsy, Short stature, Ataxia, Microceph... |
OMIM:619833 |
| Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... |
OMIM:606763 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Short stature, Ataxia, Postural tremor, Microcephaly, Babinski sign, Lower li... |
OMIM:301072 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Decreased CSF biopterin level, Gliosis, Decreased CSF protein concentration, Athetosis, M... |
ORPHA:404454 |
| Barth Syndrome |
|
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Growth dela... |
OMIM:302060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia, Hypertrophic cardiomyopathy, Ventricu... |
OMIM:618222 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Short stature, Abnormal cerebellum morphology, Babinsk... |
OMIM:275900 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Sparse eyebr... |
OMIM:619869 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Short stature, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor |
OMIM:233400 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasi... |
OMIM:608027 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Secondary microcephaly, Bradycardia, Dystonia, ... |
OMIM:614654 |
| Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Cerebellar vermis hypoplasia, Ventriculomegaly, Exaggerated startle response, Faci... |
OMIM:617281 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Autoimmune he... |
OMIM:618495 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Microcephaly, Tip-toe gait, Difficulty walking, Frequent falls, Ventriculomeg... |
OMIM:606612 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Cerebellar atrophy, Ataxia, Ventriculomegaly, Microcephaly |
OMIM:611182 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia |
OMIM:602390 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Sepsis, Thyr... |
ORPHA:39041 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Pulmonary fibrosis, Testicular atrophy... |
OMIM:618165 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage |
OMIM:243500 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectas... |
OMIM:618523 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebellar hypoplasia, Cerebral hemorrhage |
OMIM:618886 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Secondary microcephaly, Cerebral atrophy |
OMIM:619605 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Lethargy |
ORPHA:27 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Patent ductus arteriosus, Cerebral atrophy, Frontal upsweep of hair, Ventricu... |
OMIM:619797 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... |
OMIM:616100 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:617770 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Ataxia, Hypoplasia of the pons, Synophrys, Hydrocephalus, Spastic paraplegia, C... |
OMIM:614969 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... |
OMIM:250250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Limb ataxia, Gait atax... |
OMIM:208920 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Microcephaly, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619556 |
| Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... |
ORPHA:508093 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of ... |
ORPHA:2585 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Falls, Dystonia, Parkinsonism with favorable ... |
ORPHA:240085 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Recurrent otitis media, Asplenia |
OMIM:618948 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis, Increased CSF protein concentration |
OMIM:608033 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
| Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Limb dystonia, Intrauter... |
OMIM:619125 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis |
ORPHA:1302 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Intrauterine growth retardation, Ventric... |
ORPHA:272 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Bilateral cryptorchidism, Disproportionate short-trunk short stature... |
OMIM:242900 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertoni... |
OMIM:618356 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Cerebellar atrophy, Short stature, Cerebral atrophy, Dysmetria, Primary microcephaly, Intrauterin... |
OMIM:301006 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Testicular atrophy, Oral leukoplakia, Thrombocy... |
OMIM:613987 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Short stature, Jaundice, Growth delay, Iron deficiency anemia, Lymphocytosis, Diffi... |
ORPHA:1667 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Pulmonary embolism, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Dilated card... |
ORPHA:79282 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Gastrointestinal dysmoti... |
ORPHA:90051 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251000 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, A... |
OMIM:600901 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Hirsutism, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Relative macrocephaly, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebellar h... |
OMIM:616354 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia |
ORPHA:88 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell... |
ORPHA:313772 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:614381 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Cerebral corti... |
OMIM:617481 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dy... |
OMIM:609270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Short stature, Cerebral atrophy, Increased CSF lactate, Myoclonus, Elevated C... |
OMIM:619060 |
| Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recurrent vulvov... |
OMIM:614162 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Sparse scalp hair, Cerebellar vermis hypoplasia, Short stature, Sparse eye... |
ORPHA:459061 |
| Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cereb... |
ORPHA:909 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Cerebellar atrophy, Short stature, Microcephaly, Inability to walk, Babinski sign, Spastic parapl... |
OMIM:613744 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Absent vas deferen... |
ORPHA:586 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Stroke, Ataxia |
OMIM:237300 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Tachycardia, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsin... |
ORPHA:79264 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Cerebellar atrophy, Broad-based gait, Mildly reduced left ventricular ejection fraction, Ataxia, ... |
OMIM:618098 |
| Tenorio Syndrome |
|
Ventriculomegaly, Cerebral palsy, Raynaud phenomenon, Hydrocephalus, Clumsiness, Syncope, Gait di... |
OMIM:616260 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Synophrys, Long eyelashes, Lethargy |
OMIM:619064 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unsteady gait, Limb ataxia, Gait at... |
ORPHA:98760 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Hepatomegaly, Malabsorption, Thrombocytopeni... |
OMIM:557000 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Death in infancy, Hepatomegaly, Short stature, Neutropenia, Steatorrhea, High ... |
OMIM:617941 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Neurogenic bladder, Microcephaly, Oromotor apraxia, Growth delay, Spasticity,... |
ORPHA:466934 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... |
ORPHA:79124 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... |
ORPHA:369929 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hydrocephalus, Long eyelashes, Ventriculomegaly |
OMIM:618577 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Short stature, Postnatal growth retardation, Synophrys, Patent duc... |
OMIM:620113 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... |
ORPHA:220493 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, ... |
ORPHA:369939 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Dilation of Virchow-Robin spaces, Dystonia, Cerebral hemorrhage, Retinal arte... |
OMIM:175780 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Vaginal n... |
ORPHA:1018 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Absent outer dynein arms, Asthma, Bronchiec... |
OMIM:616037 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculo... |
OMIM:617633 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Heart murmur, Athetosis, Mitra... |
OMIM:614866 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Postnatal growth retardation, Partial a... |
OMIM:304050 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus, Macrocephaly |
ORPHA:83473 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis, Microcephaly |
ORPHA:357225 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Leukocytosis, Cyanosis |
ORPHA:330012 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Arrhythmia, Ataxia, Macrocephaly |
ORPHA:42 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarrhea, Bronchi... |
OMIM:619445 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Bipolar affective disorder, Atrophy of the spinal cord,... |
ORPHA:329308 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Chorea, Oculomotor apraxia, Spasticity, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:2770 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Synophrys, Hydrocephalus, Cerebral atrophy, Growth delay, Colpocephaly, Agenesis of corpus callos... |
OMIM:620156 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... |
OMIM:620282 |
| Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Short stature, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Cerebral atrophy, Growth delay, Tongue fasciculations, Oculomotor apraxia, Sp... |
OMIM:614678 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Increased CSF lactate, Choreoathetosis, Dystonia, Hypoglycorrha... |
OMIM:612126 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, T... |
OMIM:242860 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Neurogenic bladder, Mild postnatal growth retardation, Dense calcifications in the cere... |
ORPHA:90324 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... |
OMIM:603909 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Ankle clonus, Lethargy, Spasticity |
ORPHA:247525 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251110 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... |
OMIM:610743 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Hypertonia, Lethargy, Bipolar affective disorder, Ataxia, Dilated cardiomyop... |
ORPHA:254892 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencepha... |
ORPHA:588 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Lateral ventricle dilatation, Increased head circumference, Hydrocephalus |
OMIM:612301 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Growth d... |
ORPHA:3095 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis |
OMIM:619607 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Low anterior hairline, Thin eyebrow |
OMIM:619690 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly |
ORPHA:1931 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Growth delay, Increased mean corpuscular volume, Esophagitis, Ne... |
OMIM:612562 |
| Immunodeficiency 77 |
|
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... |
OMIM:619223 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth d... |
OMIM:252150 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the parathyroid gland... |
ORPHA:2552 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Dilated thir... |
ORPHA:314404 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia |
ORPHA:1867 |
| Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Atrophy/Degeneration aff... |
OMIM:613477 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:29072 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Paralysis |
OMIM:616286 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Brittle hair, Short stature, Dystonia, Microcephaly, Poor c... |
OMIM:618891 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hep... |
OMIM:608233 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, Hydrocephalus, Low posterior hairline |
ORPHA:2183 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Synophrys, Growth delay, Long eyelashes, Cerebellar hypoplasia, Intrauterine growth retar... |
ORPHA:238750 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:617915 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, Colitis, B lymphocy... |
OMIM:619281 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst, Primary microcephaly |
ORPHA:293725 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... |
OMIM:618048 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Microcephaly, Sparse e... |
OMIM:617988 |
| Harel-Yoon Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Spasticity, Dystonia, Hypertrophic cardiomyopathy |
OMIM:617183 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Growth dela... |
ORPHA:3240 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Vascular Hyalinosis |
|
Premature graying of hair, Vascular dilatation, Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
| Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Supernumerary nipple, Corpus callosum atrophy, Inability to walk, Babinski si... |
OMIM:617339 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Congestive heart failure, Babinski sign, Unsteady gait, Limb ataxia, ... |
OMIM:619259 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus, Hemiplegia, Gait disturbance |
ORPHA:2181 |
| Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Short stature, Microcephaly, Inability to walk, H... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Short stature, Microcephaly, Inability to walk, H... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Short stature, Microcephaly, Inability to walk, H... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Short stature, Microcephaly, Inability to walk, H... |
ORPHA:93924 |
| Cohen Syndrome |
|
Short stature, High, narrow palate, Neutropenia, Leukopenia, Delayed puberty |
OMIM:216550 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, R... |
OMIM:219700 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Microcephaly |
ORPHA:858 |
| Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Secondary microcephaly |
OMIM:617166 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess |
OMIM:619752 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Microcephaly, Gliosis, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:261652 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Disproportionate short-limb short stature, Dysgenesis of the cerebe... |
OMIM:619479 |
| Osteogenesis Imperfecta |
|
Relative macrocephaly, Aortic regurgitation, Aortic dissection, Short stature, Rhizomelia, Cerebr... |
ORPHA:666 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Synophrys, Growth delay, Biparietal narrowing, Agenes... |
ORPHA:238769 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hypertrophic cardiomyopathy |
OMIM:619386 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Neurodegeneration, Decerebrate rigidity, Pro... |
OMIM:245200 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Microcephaly, Inability to walk, Oculomotor apraxia, Hirsutism, Dysmetria, Cerebellar hyp... |
OMIM:618087 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... |
OMIM:619725 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell c... |
ORPHA:158061 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, A... |
OMIM:227645 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Tongue fasciculations, Fasciculations, Intrau... |
OMIM:618065 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Microcephaly, Patent ductus arteriosus, Lateral ventricl... |
ORPHA:177907 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Synophrys, Unsteady gait, Hirsutism |
OMIM:300861 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
| Susac Syndrome |
|
Lethargy, Apathy, Upper motor neuron dysfunction, Gait ataxia |
ORPHA:838 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Neonatal death, Microcephaly |
OMIM:251230 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... |
ORPHA:60040 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Inability to walk, Cereb... |
OMIM:618877 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depre... |
OMIM:137440 |
| Schimke Immuno-Osseous Dysplasia |
|
Short stature, Thrombocytopenia, Disproportionate short-trunk short stature, Growth delay, Decrea... |
ORPHA:1830 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Hydrocephalus, ... |
ORPHA:1908 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Steppage gait, Ataxia, Cerebral atrophy |
OMIM:607250 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Inability to walk, Anemia, Leukopenia, Death in childhood, Macrogloss... |
OMIM:617303 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Hemiparesis, Stroke, Total a... |
ORPHA:494424 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Agenesis of cerebellar vermis, Sparse eyelashes, Cerebellar vermis hypoplasia,... |
OMIM:210710 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus... |
ORPHA:477774 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Cerebral cortical atrophy, Bradycardia, Cerebral atrophy |
OMIM:609924 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus, Fair hair, Cerebral atrophy |
OMIM:269920 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Unsteady gait, Fetal intraventricular hemorrhage, Spasticity, Limb hypertonia |
OMIM:618480 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea |
OMIM:617577 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Babinski sign, Spastic paraplegia, Upper ... |
OMIM:619686 |
| Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Microcephaly, Choreoathetosis, Coarse hair, Secondary microcephaly, Cerebral ... |
OMIM:619603 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Macroce... |
ORPHA:93274 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Microcephaly, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressi... |
ORPHA:431361 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Microcephaly, Inability to walk, Abnormality of extrapyramidal motor function... |
OMIM:614739 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Short stature, Limb ataxia, Clumsiness, Titubation, Gait ataxia,... |
ORPHA:98768 |
| Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ... |
OMIM:612656 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Microcephaly, Tremor, Involuntary movements, ... |
ORPHA:442835 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Primary microce... |
ORPHA:89844 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Spastic gait, Lower limb hypertonia, ... |
ORPHA:99013 |
| Neurofibromatosis, Type I |
|
Astrocytoma, Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal... |
OMIM:162200 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Cerebellar atrophy, Torticollis, Ataxia, Short stature, Ventriculomegaly, Limb hypertonia |
OMIM:618547 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Dilated cardiomyopathy |
ORPHA:79230 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Short stature, Tremor, Cerebellar vermis atrophy, Gait ataxia, Delayed pub... |
OMIM:300354 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Microcephaly, Secondary microcephaly, Spasticity, Ventric... |
OMIM:616683 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Hepatomegaly, Microcytic anemia, Macroglossia, Difficulty walking, Neutropenia |
OMIM:251900 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Recurrent infections, Reduced spe... |
OMIM:615434 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Tremor, Dysplastic corpus callosum, Hemiparesis, Hypertonia, Secondary microcephaly,... |
OMIM:619737 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Spastic tetraparesis, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Hypertonia, Chia... |
ORPHA:171839 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Athetosis, Cerebellar hypoplasia, Neonatal dea... |
OMIM:311900 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, ... |
OMIM:227646 |
| Cockayne Syndrome |
|
Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Gliosis, Intentio... |
ORPHA:191 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Enterocolitis, Decreased eosinophil count, Lymphopenia, Too... |
ORPHA:2686 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... |
OMIM:617827 |
| Saul-Wilson Syndrome |
|
Prominent superficial veins, Short stature, Progeroid facial appearance, Postnatal growth retarda... |
OMIM:618150 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Cerebral hemorrhage, Abnormal cerebell... |
ORPHA:2495 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Erythema, Inability to walk, Multipl... |
OMIM:225750 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasti... |
OMIM:612716 |
| Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, U... |
ORPHA:48435 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Intrauterine growth retar... |
OMIM:615190 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di... |
ORPHA:39812 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Gait ataxia, Macrocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:616355 |
| Congenital Disorder Of Deglycosylation 1 |
|
Dilation of Virchow-Robin spaces, Involuntary movements, Microcephaly, Decreased CSF albumin conc... |
OMIM:615273 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Short stature, Hydrocephalus, Low posterior hairline, Pulmonic stenosis, Hyper... |
ORPHA:2701 |
| Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Spastic tetraparesis, Microcephaly, Inability to walk, Cerebral atrophy, Gait... |
OMIM:618012 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrotat... |
ORPHA:2326 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... |
ORPHA:90790 |
| Temple Syndrome |
|
Relative macrocephaly, Hydrocephalus, Postnatal growth retardation, Short stature |
ORPHA:254516 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... |
OMIM:608203 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Short stature, Inability to walk, Babinski sign, Low anterior hairline, Spast... |
OMIM:615663 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Microcephaly, Tremor, Chorea, Clumsiness, Growth delay, Choreoathetosis, Abnormal... |
OMIM:615673 |
| Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Cerebellar atrophy, Tricuspid regurgitation, Short stature, Ataxia, Microcephaly, Inability to wa... |
OMIM:619576 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Microcephaly, Inability to walk, Synophrys, Wi... |
OMIM:617804 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Hydrocephalus, Short stature, Microcephaly |
OMIM:300558 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, High palate, Anemia, Neutropenia |
OMIM:614520 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Cerebellar hy... |
OMIM:620327 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... |
ORPHA:158048 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Microcephaly, Axonal degeneration, Increased CSF lactate, Subependymal cysts,... |
OMIM:616811 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... |
ORPHA:95706 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature |
OMIM:241500 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Microcephaly, Broad skull, Patent ductus arteriosus, Hydrocephalus, Heart murmur, ... |
ORPHA:163979 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Cerebellar atrophy, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cer... |
OMIM:614576 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Supernumerary nipple, Hydrocephalus, Fine hair, Gait disturbance, Macrocephaly,... |
ORPHA:1812 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Microcephaly |
OMIM:610006 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... |
ORPHA:98905 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Steatorrhea, Persistence of he... |
OMIM:260400 |
| Halperin-Birk Syndrome |
|
Inability to walk, Spastic tetraplegia, Colpocephaly, Hypertonia, Long eyelashes, Pseudobulbar pa... |
OMIM:618651 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Dystonia, Microcephaly, Chorea, Cerebral atrophy, Opisthotonus, Secondary mic... |
OMIM:616672 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Asthma, ... |
ORPHA:8 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Ventriculomegaly, Superior cerebellar dysplasia, Dandy-Walker malformation |
OMIM:617622 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Clumsiness, Thin eyebr... |
OMIM:619320 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Limb ataxia, Gait ataxia, Spasticity, Ce... |
OMIM:248800 |
| Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Neurogenic bladder, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Growth delay, Steatorrhea, ... |
ORPHA:75233 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Depression, Intracranial hemorrhage, Oral cavity bleeding... |
ORPHA:324636 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abn... |
OMIM:612387 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Cryptorch... |
OMIM:617052 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Gait ataxia, Progressive cerebellar ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy... |
ORPHA:466794 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
| Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Disproportionate short-limb short stature, Macrocephaly,... |
ORPHA:2655 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Highly arched eyebrow, Retinal telangiectasia, Hypoplasia of the pons, Microcephaly, Hydrocephalu... |
OMIM:620157 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C... |
ORPHA:411703 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tremor, Inability to walk, Low anterior hairline, Limb tremor, Agenesis of corpus callosum, Incre... |
OMIM:218000 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy |
OMIM:616719 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Growth delay, Cardio... |
ORPHA:445038 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251100 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Highly arched eyebrow, Microcephaly, Synophrys, Cerebral atrophy, Long eyelas... |
OMIM:619286 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle cl... |
ORPHA:88644 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Short stature, Hypertension, Extra-axial cerebrospinal fluid accumulation, Pa... |
OMIM:617763 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Vomiting, Infectious encephalitis, Na... |
ORPHA:1304 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr... |
ORPHA:1572 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ataxia, Hydrocephalus, Dysmetria, Macrocephaly, Telangiectasia, Myoclonus, Generali... |
ORPHA:93400 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Bradycardia |
ORPHA:95717 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Vacuolated l... |
ORPHA:167 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:615181 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Microcephaly, Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance, Macroc... |
OMIM:613330 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy |
ORPHA:30925 |
| Holocarboxylase Synthetase Deficiency |
|
Growth delay, Lethargy, Alopecia, Ataxia |
ORPHA:79242 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Spastic tetraparesis, Microcephaly |
OMIM:618506 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Ataxia, Dysphagia, Growth delay, Choreoathetosis, Gastroesophageal reflux, Neutropenia |
OMIM:615471 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, In... |
ORPHA:86309 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Short stature, Microcephaly, Growth delay, Intrauterine growth retardation, C... |
OMIM:618347 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Progressive macrocephaly, Concentric hyp... |
OMIM:252010 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Microcephaly, Venous insufficiency, Chorea... |
ORPHA:565 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Microcephaly, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, ... |
OMIM:616586 |
| Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Agenesis of... |
OMIM:615219 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Rectal prolapse, Cyanosis, Gastroesophageal reflux |
OMIM:619793 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Abnormality of th... |
ORPHA:906 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Hypertonia, Secondary microcephaly, Brain atrophy, Intra... |
OMIM:612938 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Progressive macrocephaly, Ventriculomegaly |
OMIM:602501 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Poikiloderma With Neutropenia |
|
Short stature, Splenomegaly, Telangiectasia, Growth delay, Leukopenia, Neutropenia |
OMIM:604173 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:1788 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... |
ORPHA:221139 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly, Gastrointestinal dysmotility, Choreoathetosis, Dysphagia, Loss of ambulation |
ORPHA:391428 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Dextrotransposition of the great arteries, Colpocephaly, Agenesis of corpu... |
OMIM:618619 |
| Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... |
ORPHA:475 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Hypospadias, Pure red cell aplasia, Cleft soft palate, Ery... |
ORPHA:124 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Curly hair, Ventriculomegaly, Transient ischemic attack, Proportionate sho... |
ORPHA:500150 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Gait ataxia, Growth delay,... |
OMIM:103050 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Spastic dysarthria, Steppage gait, Global brain atrophy |
ORPHA:94124 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Gait ataxia, Choreoathetosis, Opisth... |
OMIM:619580 |
| Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Chorea, Babinski sign, Dysmetria, Limb ataxia, Spinocerebellar atrophy,... |
OMIM:164400 |
| Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Lethargy, Hypertrophic cardiomyop... |
OMIM:212140 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Cardiomyopa... |
OMIM:620089 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Progressive micr... |
OMIM:615249 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Cerebral hemorrhage, Synophrys, Subdural hemorrhage, Arterial rupture, Difficulty ... |
ORPHA:536545 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Growth delay, Bradykinesia, Dy... |
ORPHA:70594 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Microcephaly,... |
OMIM:615356 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Increased... |
OMIM:272200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| Scrub Typhus |
|
Abnormal bleeding, Tremor, Myocarditis, Hypotension, Lethargy |
ORPHA:83317 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Intestinal obstruction, Primary testicular failure... |
ORPHA:85450 |
| Desmosterolosis |
|
Severe short stature, Microcephaly, Rigidity, Patent ductus arteriosus, Hydrocephalus, Anomalous ... |
ORPHA:35107 |
| Necrotizing Enterocolitis |
|
Lethargy, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Desmosterolosis |
|
Relative macrocephaly, Rhizomelia, Microcephaly, Patent ductus arteriosus, Partial agenesis of th... |
OMIM:602398 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Bruisi... |
OMIM:612940 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G... |
ORPHA:445062 |
| Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Fine hair, Supr... |
OMIM:181270 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Microcephaly, Cerebellar vermis atrophy, Cerebral atrophy, Progressive microcephaly, Ventriculome... |
OMIM:615760 |
| Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Synophrys, Cerebral atrophy, Dystonia |
OMIM:618729 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Postnat... |
OMIM:300966 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Cerebral atrophy, Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia... |
OMIM:300896 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Astrocytoma, Hydrocephalus, Cerebellar hypoplasia... |
OMIM:613001 |
| Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Long eyelashes, Limb hypertonia |
OMIM:617276 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood... |
ORPHA:70578 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus |
OMIM:618567 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... |
OMIM:620296 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal f... |
ORPHA:537 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... |
ORPHA:163961 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Short stature, Ataxia, Synophrys, Cerebral atrophy, Growth delay, Cervical my... |
OMIM:619260 |
| Dpm1-Cdg |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Secondary microcephaly, Ab... |
ORPHA:79322 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Highly arched eyebrow, Microcephaly, Tremor, Part... |
OMIM:220111 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, V... |
OMIM:619381 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Recurrent bacterial infections, Absent circulating B cells, Eczematoid der... |
OMIM:619693 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
| Episodic Ataxia Type 6 |
|
Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia |
ORPHA:209967 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, N... |
ORPHA:95430 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cerebral hemorrhage, Microcephaly, Patent ductus arteriosus, Unsteady gait, Macrocephaly, Sparse ... |
OMIM:616682 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Vascula... |
ORPHA:168491 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Short st... |
OMIM:613686 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
| Bresek Syndrome |
|
Alopecia, Microcephaly, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation |
ORPHA:85284 |
| Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Microcephaly, Opisthotonus, Lateral ventricle dilatation, Hypertonia |
OMIM:614098 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Erythema, Urticaria, G... |
ORPHA:343 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... |
ORPHA:35069 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Double outlet right ventricle, Low posterior hairline, Pulmonic stenosis, Intraute... |
OMIM:220210 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Purpura |
ORPHA:293173 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly,... |
ORPHA:465508 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Short stature, Microcephaly, Subdural hemorrhage, Hypertonia, Macrocephaly, Intrauterine growth r... |
OMIM:619714 |
| Trisomy 1Q |
|
Hydrocephalus, Patent ductus arteriosus, Cerebellar hypoplasia, Macrocephaly, Agenesis of corpus ... |
ORPHA:261344 |
| Emanuel Syndrome |
|
Ventriculomegaly, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Growth... |
ORPHA:96170 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia |
OMIM:618247 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:212065 |
| Insulinoma |
|
Tremor, Lethargy, Palpitations |
ORPHA:97279 |
| Monosomy 18Q |
|
Left-to-right shunt, Short stature, Astrocytoma, Microcephaly, Left aortic arch with right descen... |
ORPHA:1600 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Poor coordination, Increased CSF lactate, Subependymal cysts, Neurodegenerat... |
ORPHA:478029 |
| Encephalitis Lethargica |
|
Parkinsonism, Tremor, Bradycardia, Lethargy, Increased CSF protein concentration |
ORPHA:83600 |
| Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Short stature, Ataxia, Abnormal eyelash morphology, S... |
ORPHA:381 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Highly arched eyebrow, Microcephaly, Synophrys, Patent ductus arteriosus, Low... |
ORPHA:329224 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Growth delay, Abnormal esophagus morpho... |
OMIM:226600 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... |
ORPHA:99027 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Raynaud phenomenon, Chorea, Vasculitis, Dis... |
ORPHA:1855 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Microcephaly, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Lethargy, Cere... |
OMIM:277400 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Frontal upsweep of hair, Macrocephaly, T... |
OMIM:612582 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Patent ductus arteriosus, Cerebral atrophy, Growth delay, Ventriculomegaly |
OMIM:618659 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... |
ORPHA:2590 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Esophageal varix, Hepatocellular carcinoma, Ecchymo... |
OMIM:619463 |
| Shigellosis |
|
Pneumonia, Abscess, Intestinal perforation, Myocarditis, Peritonitis, Leukocytosis, Thrombocytope... |
ORPHA:810 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Babinski sign, Cardiomyopathy, Mitral regurgit... |
ORPHA:746 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Growth de... |
OMIM:614886 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension, Highly arched... |
ORPHA:1454 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Esophageal varix, Hepatomegaly |
ORPHA:75234 |
| Isolated Complex I Deficiency |
|
Ataxia, Microcephaly, Increased CSF lactate, Intrauterine growth retardation, Hypertrophic cardio... |
ORPHA:2609 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Hypertension, Depression, G... |
ORPHA:93256 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Increased CSF alanine concentration, Increased CSF citrulline concentration, Tremor, Cere... |
ORPHA:3008 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Heart murmur, Mitral regurgitation, Lateral ventricle dilatation, Gliosis, Intraut... |
OMIM:615873 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
| Familial Or Sporadic Hemiplegic Migraine |
|
Cerebellar atrophy, Involuntary movements, CSF pleocytosis, CSF lymphocytic pleiocytosis, Hemipar... |
ORPHA:569 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,... |
ORPHA:99772 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Congestive heart failure, Inability to walk, Cardiomyopathy, Gliosis, Macrocephaly, Arrhythmia |
ORPHA:26791 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... |
ORPHA:2330 |
| Trisomy 17P |
|
Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Low posterior hairline, Gro... |
ORPHA:261290 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
| Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Aplastic anemia, Short stature, Cryptorchidism, Functional abnor... |
ORPHA:221008 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Dysphagia, Hyp... |
OMIM:222300 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia |
OMIM:614306 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Microcephaly, Colpocephaly, Chiari malformation, Intrauterine growth retardation, ... |
OMIM:609053 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatomegaly, Delayed puberty... |
ORPHA:79259 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... |
ORPHA:508542 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia... |
OMIM:610217 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Dystonia, Ataxia, Sparse eyebrow, Tetraplegia, Growth del... |
ORPHA:496641 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Myelomeningocele, Double ... |
OMIM:306955 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Synophrys, Low posterior hairline, Hypertonia, Generalized hirsutism, Hirsutism |
ORPHA:1895 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
OMIM:237310 |
| Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Short stature, Cerebral atrophy, Limb dystonia |
OMIM:620269 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Spasticity, Gait ataxia, Delayed puberty, Hypertrophic cardiomyopathy, Spasti... |
ORPHA:496790 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Progressive microcephaly, ... |
OMIM:617802 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebrospinal fluid morphology, Abnormal ... |
ORPHA:68 |
| Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Abnormality of the mal... |
ORPHA:228123 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Tremor, Lethargy, Alopecia of scalp |
OMIM:201100 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Short stature, Ataxia, Microcephaly, Dilated cardiomyopathy, Cerebellar vermis ... |
OMIM:616541 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Microcephaly, Postnatal growth retardation, Hydrocephalus, Tetra... |
OMIM:257300 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
| Central Diabetes Insipidus |
|
Lethargy, Depression |
ORPHA:178029 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy |
OMIM:274400 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... |
OMIM:203700 |
| Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Depression, Abnormal vestibulo-ocu... |
OMIM:193003 |
| Emanuel Syndrome |
|
Ventriculomegaly, Torticollis, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cerebral at... |
OMIM:609029 |
| Spinocerebellar Ataxia 47 |
|
Ataxia, Short stature, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy |
OMIM:617931 |
| Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Macro... |
ORPHA:59315 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:28 |
| Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Short stature, Microcephaly, Aqueductal stenosis, Patent ductus arteriosu... |
OMIM:154400 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Ataxia, Petechiae |
OMIM:602473 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Cerebellar hy... |
OMIM:253800 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Oculomotor apraxia, Ventriculomegaly |
OMIM:615630 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... |
ORPHA:544482 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Decr... |
OMIM:619573 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonar... |
OMIM:620233 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
| 3C Syndrome |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Pulmonic stenosis, ... |
ORPHA:7 |
| Kabuki Syndrome 1 |
|
Short stature, Highly arched eyebrow, Microcephaly, Sparse eyebrow, Postnatal growth retardation,... |
OMIM:147920 |
| Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruisi... |
OMIM:185070 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Dysphagia |
OMIM:150260 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Growth delay, Holoprosencephaly, Agenesis of corpus call... |
ORPHA:77298 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Cerebellar hypo... |
OMIM:613150 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Microcephaly, Spastic hemiparesis, Dilated cardiomyopathy, Prolonged prot... |
ORPHA:20 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Chiari malformation |
ORPHA:93260 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesi... |
OMIM:168600 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Cohen Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate, Neutropenia... |
ORPHA:193 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Tricuspid regurgitation |
OMIM:263520 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Ata... |
OMIM:615919 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Microcephaly, Reduced left ventricular ejection fraction, Lethargy, Hypertr... |
OMIM:201475 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
| Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait |
ORPHA:37612 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Cerebellar atrophy, Ventriculomegaly, Tricuspid regurgitation, First degree... |
OMIM:620066 |
| Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Oculomotor apraxia, Babinski sign, Ataxia |
OMIM:608703 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Microcephaly, Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral... |
OMIM:617260 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Tarp Syndrome |
|
Broad-based gait, Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Cleft palate, Glossopto... |
ORPHA:2886 |
| Charge Syndrome |
|
Aortic arch aneurysm, Short stature, Highly arched eyebrow, Microcephaly, Aqueductal stenosis, Po... |
ORPHA:138 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Spasticity, Intention tremor |
OMIM:612674 |
| Trichothiodystrophy |
|
Prematurely aged appearance, Cryptorchidism, High, narrow palate, Increased mean corpuscular hemo... |
ORPHA:33364 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Agenesis of c... |
ORPHA:899 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... |
ORPHA:98897 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Short stature, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformati... |
ORPHA:109 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Babinski sign, Limb dysmetria |
OMIM:600223 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Chronic diarrhea, Leukocytosis, Hematochezia, ... |
OMIM:615895 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
| Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Delayed menarche, Intention ... |
OMIM:614871 |
| Trichinellosis |
|
Abnormal cerebrospinal fluid morphology, Babinski sign, Retinal hemorrhage, Central retinal arter... |
ORPHA:863 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb at... |
OMIM:606002 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Lethargy, Tachycardia |
ORPHA:263455 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Cutis marmorata, Eosinophilia, Malabsorption, Urticaria, Gait disturbance... |
ORPHA:183 |
| Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Decreased proportion o... |
OMIM:242840 |
| Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Secondary microcephaly, Myoclonus, Primary mi... |
OMIM:619609 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Right bundle b... |
OMIM:618590 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, ... |
ORPHA:97287 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Inability to walk, Synophrys, Unsteady g... |
OMIM:618443 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,... |
ORPHA:79128 |
| Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Abnormal hair morphology, Abnormal cerebellum morphology, Abnormal ce... |
ORPHA:324737 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cerebellar atrophy, Ataxia, Clumsiness, Depression, Subcortical cerebral at... |
ORPHA:309288 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Short stature, Cryptorchidism, Erythema, Cleft palate, Facial erythema, Growth d... |
ORPHA:221016 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Abnormality of extrapyramidal motor function, Apathy, Hypotension |
ORPHA:178509 |
| Biotinidase Deficiency |
|
Alopecia, Diffuse cerebral atrophy, Ataxia, Lethargy, Diffuse cerebellar atrophy |
OMIM:253260 |
| Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... |
ORPHA:137667 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Cardiomegaly, Recurrent infections, Pulmonary arterial hypertension, Hypot... |
OMIM:601005 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
| Alg1-Cdg |
|
Cerebellar atrophy, Cardiomyopathy, Progressive microcephaly, Cerebral atrophy |
ORPHA:79327 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Abno... |
ORPHA:217260 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Prolonged prothrombin time, Lethargy |
OMIM:616483 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Stroke-like episode, Limb ataxia, Cardiomyop... |
OMIM:105210 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Polycystic ovaries, R... |
ORPHA:2176 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni... |
OMIM:603467 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Cerebellar vermis hypopl... |
OMIM:618460 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:60041 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Vascular ring, Mitral regurgitation, Macrocephaly, Ventriculomegaly |
OMIM:603387 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Angina pectoris, Ataxia, Myocardial infarction, Babinski sign, Abnormal pyram... |
OMIM:213700 |
| Peho Syndrome |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Biparietal narrowing, Atrophy/Degeneration affec... |
ORPHA:2836 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Ventriculomegaly, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Increased ... |
OMIM:617186 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux |
ORPHA:1949 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Hydrocepha... |
ORPHA:3452 |
| Dravet Syndrome |
|
Bradykinesia, Progressive gait ataxia, Cyanotic episode |
ORPHA:33069 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar h... |
ORPHA:3309 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Sparse eyebrow, Tremor, Frontal upsweep of hair, Gliosis, Dystonia, Intrauterine g... |
ORPHA:506358 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Macrocephaly, Intrauterine growth retardation |
OMIM:300863 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Prolonged prothrombin time, Stroke, Episodic ataxia, Lethargy |
OMIM:311250 |
| Q Fever |
|
Respiratory distress, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Hepatomegaly, Ma... |
ORPHA:781 |
| Temple Syndrome |
|
Relative macrocephaly, Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:616222 |
| Immunodeficiency 91 And Hyperinflammation |
|
Death in infancy, Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, ... |
OMIM:619644 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, High palate, Short stature, Neutropenia |
OMIM:618005 |
| 16Q24.3 Microdeletion Syndrome |
|
Abnormal hair pattern, Highly arched eyebrow, Dilated cardiomyopathy, Mitral regurgitation, Colpo... |
ORPHA:261250 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Premature graying of hair, Intracrani... |
ORPHA:363618 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Clonus... |
OMIM:615574 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Portal hypertension, Hydrocephalus, Hemipar... |
ORPHA:974 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Right hemiplegia, Loss o... |
OMIM:607426 |
| Esophageal Atresia |
|
Cyanosis, Abnormal external genitalia, Barrett esophagus, Intestinal malrotation, Pyloric stenosi... |
ORPHA:1199 |
| Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Ataxia |
OMIM:248600 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Esophageal varix, Hepatomegaly |
OMIM:617068 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Jaundice, Esophageal varix, Anemia, Leu... |
ORPHA:64743 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Choreoathetosis, Gait imbalance,... |
ORPHA:64753 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Macrocephaly, Ventriculomegaly |
OMIM:261515 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Microcephaly, Babinski sign, Dystonia, Neonatal death, Spasticity |
OMIM:618186 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Short stature, Hepatocellular carcinoma, Splenomegaly, Neutropenia, Inflammation of... |
OMIM:232220 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis, Truncal ataxia |
OMIM:614407 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Cadds |
|
Cerebellar atrophy, Intrauterine growth retardation, Ventriculomegaly, Dystonia |
ORPHA:369942 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Sparse scalp hair, Pulmonary embolism, Hemiplegia/hemiparesis, Intra... |
ORPHA:394 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Low anterior hairline, Cerebral atrophy, Secondary m... |
OMIM:616875 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Arrhythmia, Dilated cardiomyopathy, Microcephaly |
OMIM:615084 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Depression, Interrupted aor... |
ORPHA:250989 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis, Reduced hematocrit |
ORPHA:79126 |
| Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Liver abscess, Telangiectasia, Hypoxemia, Iron deficiency anemia, Gastro... |
ORPHA:2038 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Lethargy, Cerebral cortical atrophy, Dystonia |
OMIM:277410 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, High palate |
ORPHA:98913 |
| Shukla-Vernon Syndrome |
|
Sparse hair, Broad-based gait, Cerebellar atrophy |
OMIM:301029 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Cyanosis, High palate |
ORPHA:3304 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoeso... |
OMIM:300514 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Paraparesis, Babinski sign, Pa... |
ORPHA:139417 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Coarctation of ao... |
ORPHA:93932 |
| H Syndrome |
|
Histiocytosis, Diabetes mellitus, Psoriasiform dermatitis, Malabsorption, Microcytic anemia, Recu... |
ORPHA:168569 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Patent ductus arteriosus, Rhizomelia, Progressive microcephaly |
OMIM:607143 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Bradycardia |
ORPHA:95716 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Babinski sign, Cerebral atrophy, Ankle clon... |
OMIM:615398 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Thyroiditis, Erythroderma, Tub... |
ORPHA:139402 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Ataxia, Inability to walk, Gastrointestinal dysmotility, Growth delay, Gastroesoph... |
OMIM:617799 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemiparesis, Gait distur... |
ORPHA:98673 |
| Takenouchi-Kosaki Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, P... |
OMIM:616737 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Chiari malforma... |
ORPHA:268810 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Intrauterine growth retardation... |
OMIM:614846 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Microcephaly, Tremor, Paraplegia, Depression, Growth delay, Hypertonia,... |
ORPHA:79254 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Microcephaly, Loss of ability to walk in first decade, Hyperkinetic m... |
OMIM:300243 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Ataxia, Postnatal growth retardation, Splenomegaly, ... |
ORPHA:699 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cerebellar hypoplasia, Abnorma... |
ORPHA:1647 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Severe short stature, Olivopontocerebellar hypoplasia, Hypoplasia of the pons... |
ORPHA:468631 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Clonus, Supernumerary nipple, Sparse eyebrow, Synophrys, Colpocephaly, Lower l... |
ORPHA:477993 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Cerebellar h... |
OMIM:264480 |
| Lowry-Maclean Syndrome |
|
Microcephaly, Hydrocephalus, Coarctation of aorta, Growth delay, Hemiparesis, Generalized hypertr... |
ORPHA:2409 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ... |
ORPHA:70588 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Progressive microcephaly |
OMIM:260565 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Broad-based gait, Short stature, Ataxia, Microcephaly, Hypertonia, Breast a... |
ORPHA:268261 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Recurrent respiratory infections, Abnormal pleura morph... |
ORPHA:36426 |
| Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Aplastic anemia, Short stature, Infertility, Neutropenia, Leukemia, A... |
ORPHA:2909 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspir... |
OMIM:300472 |
| Citrullinemia, Classic |
|
Lethargy, Stroke, Ataxia |
OMIM:215700 |
| Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Congestive ... |
ORPHA:48818 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Microcephaly, Synophrys, Dilated cardiomyopathy, Patent ductus arte... |
OMIM:607872 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... |
ORPHA:60025 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Oculomotor apraxia, Dandy-W... |
OMIM:617822 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Microcephaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Lethargy, Arrhythmia |
ORPHA:159 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Dystonia |
OMIM:618868 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasis, Bronchiolitis obli... |
ORPHA:99921 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, Hydrocephalus, White hair, Hypertonia, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2720 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia |
ORPHA:54251 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Dysphagia, Growth delay, Neutropenia, Neonatal death |
OMIM:617248 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Ataxia, Splenomegaly, Erythema, Anemia, ... |
ORPHA:50918 |
| Rabin-Pappas Syndrome |
|
Highly arched eyebrow, Retinal telangiectasia, Hypoplasia of the pons, Microcephaly, Hydrocephalu... |
OMIM:620155 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Brittle hair, Ataxia, Cerebral atrophy, Spasticity, Depression, Gliosis, Neon... |
OMIM:124000 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Hydrocephalus, Bipari... |
ORPHA:2318 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Arrhythmia |
OMIM:255120 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Dystonia, Ataxia, Abnormal pyramidal sign, Tetraplegia, Atrophy/Degeneration ... |
OMIM:616267 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Short stature, Microcephaly, Cerebral atrophy, Coarctation of aorta, Hyperten... |
OMIM:617729 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis, Cleft palate |
ORPHA:2257 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Purpura |
OMIM:607944 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
| Scholte Syndrome |
|
Cerebellar atrophy, Abnormal pyramidal sign |
OMIM:300977 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Short stature |
OMIM:611590 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Highly arched eyebrow, Microcephaly, Inabili... |
OMIM:620083 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Hydroceph... |
OMIM:608091 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Intrauterine growth retardation, Oral leukopl... |
OMIM:616553 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Short stature, Intracranial hemorrhage, Hypertension, Hirsutism |
ORPHA:90795 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Bilateral Polymicrogyria |
|
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Cerebella... |
ORPHA:268940 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Cyanosis, Ataxia, Tip-toe gait, High palate, Gastroesophageal reflux, Difficulty w... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Waddling gait, Cyanosis, Ataxia, Tip-toe gait, High palate, Gastroesophageal reflux, Difficulty w... |
ORPHA:590 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Rhizomelia, Short stature, Ataxia, Microcephaly, Gait ataxia, Intrauterine gr... |
OMIM:617164 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Short stature, Microcephaly, Ventriculomegaly |
OMIM:610651 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Dry hair, Short stature, Ataxia, Microcephaly, Tremor, Cerebral atrophy, Hype... |
OMIM:216400 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia, Short stepp... |
OMIM:168605 |
| Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... |
ORPHA:412217 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Irregular ... |
ORPHA:264580 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, Neo... |
OMIM:619859 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para... |
OMIM:232300 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Ataxia, Lethargy, Trichorrhexis nodosa, Elevated CSF argininosuccinic aci... |
OMIM:207900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Proportionate short stature, Dilated cardiomyopathy, Prolonged prothrombin... |
ORPHA:71212 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus call... |
OMIM:619103 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature, Spasticity |
ORPHA:1946 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Intra... |
ORPHA:525731 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Congestive heart failure, Hydrocephalus, Disproportionate short... |
OMIM:616482 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Thick hair, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth dela... |
OMIM:617675 |
| 15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Brain atrophy, Macrocephaly, Pulmon... |
ORPHA:314585 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Menometrorrhagia, Malabsorption, Neutropenia, Bruising susceptibility |
ORPHA:79430 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Elevated hemoglobin A1c, Hypogonadotropic hypogonadism, Ataxia, Postnatal growth r... |
OMIM:616113 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Congestive heart failure, Hydrocephalus, Neurodegeneration, ... |
OMIM:309900 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Cerebellar atrophy, Spastic tetraparesis, Microcephaly, Cerebral atrophy, Hypertonia |
OMIM:601110 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Short stature, Ataxia |
ORPHA:31 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Cerebellar vermis atr... |
OMIM:614575 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Ventriculomegaly, Short stature, Ataxia, Microcephaly, Spastic tetraplegia, C... |
OMIM:251300 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Arrhythmia, Dilated cardiomyopathy, Microcephaly |
ORPHA:352447 |
| Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Lethargy, Abnormal pyramidal sign, Ataxia |
OMIM:201470 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Gliosis, Macrocephaly |
OMIM:231680 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Short stature, Babinski sign, Cerebral atrophy, Gait ataxia, Atrophy/Degenera... |
OMIM:616192 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Macrocephaly, Lethal short-limbed short stature, Ventric... |
ORPHA:1860 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate,... |
OMIM:105650 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation |
ORPHA:163966 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Progressi... |
ORPHA:415 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature, Macrocephaly |
ORPHA:53 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebell... |
OMIM:614643 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Microcephaly, Tremor, Atrophy of the spinal cord, Inability to walk, Babinski... |
ORPHA:466768 |
| Cholesteryl Ester Storage Disease |
|
Death in infancy, Hepatomegaly, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenome... |
OMIM:278000 |
| Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Short stature, Microcephaly, Junctional ectopic tachycardia, Hydrocephalus, Col... |
OMIM:309801 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Short stature, Microcephaly, Limb ataxia, Truncal ataxia, Cerebellar vermis atr... |
OMIM:617101 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... |
OMIM:305400 |
| Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Neurogenic bladder, Short stature, Congestive heart failure, Low anterior hai... |
OMIM:608779 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
| Double Outlet Right Ventricle |
|
Cyanosis, Short stature, Intestinal malrotation, Submucous cleft hard palate, Cleft palate |
ORPHA:3426 |
| Hurler Syndrome |
|
Cerebral palsy, Angina pectoris, Short stature, Hydrocephalus, Abnormal pyramidal sign, Depressio... |
ORPHA:93473 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum, Ataxia, Macrocephaly |
ORPHA:65285 |
| Chops Syndrome |
|
Gastroparesis, Cryptorchidism, High, narrow palate, Splenomegaly, Anomalous pulmonary venous retu... |
OMIM:616368 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Dysphagia, Growth delay, Abnormal esopha... |
ORPHA:89842 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Vomiting, Dysphagia, Testicular atrophy, Podagra |
OMIM:300322 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Ataxia, Microcephaly, Hydrocephalus, Arteriosclerosis, Spasticity |
ORPHA:220295 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Hirsutism, Card... |
OMIM:253220 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Clonus, Microcephaly, Hydrocephalus, Spastic tetraplegia, Cerebral atrophy, Growth... |
OMIM:259720 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Disproportionate short-limb short stature, Macrocephaly, Neonatal death, Lethal sh... |
OMIM:187600 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... |
ORPHA:740 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Anal stenosis, Au... |
OMIM:251260 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Short stature, Patent ductus arteriosus, Hydrocephalus, Meningocele, Chiari t... |
OMIM:130720 |
| Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Lethargy, Gastrointestinal hemorrhage, Melena |
ORPHA:319218 |
| Stt3B-Cdg |
|
Cerebellar atrophy, Intrauterine growth retardation, Microcephaly |
ORPHA:370924 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Short stature, Microcephaly, Hydrocephalus, Gait disturbance, Dilated thir... |
ORPHA:500055 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Dystonia, Highly arched eyebrow, Sparse eyebrow, Cerebral atrophy, Hypertonia... |
OMIM:619124 |
| Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Abnormal CSF ornithine concentration, Mi... |
ORPHA:2203 |
| Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus |
ORPHA:352582 |
| Isotretinoin-Like Syndrome |
|
Microcephaly, Postnatal growth retardation, Patent ductus arteriosus, Hydrocephalus, Abnormal aor... |
ORPHA:2306 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Intrauterine growth retardation, Microcephaly |
OMIM:615597 |
| Multiple Sulfatase Deficiency |
|
Short stature, Microcephaly, Hydrocephalus, Coarse hair, Macrocephaly, Thick eyebrow |
ORPHA:585 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Hypopigmentation of hair, Ventriculomegaly |
ORPHA:398079 |
| Citrullinemia Type Ii |
|
Tremor, Lethargy, Delayed menarche, Mania |
ORPHA:247585 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Growth delay, Hypotension, Lethargy |
ORPHA:427 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hydrocephalus, Macrocephaly |
ORPHA:53271 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus, Growth delay, Microcephaly |
OMIM:617244 |
| Cholera |
|
Tachycardia, Hypovolemic shock, Stroke, Hypotension, Lethargy |
ORPHA:173 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Short stature, Microcephaly, Myelomeningocele, Hydrocephalus, Cerebral atroph... |
OMIM:311200 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Lethargy, Hypopigmentation of hair, Short stature, Ventriculomegaly |
ORPHA:398069 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Age... |
OMIM:243605 |
| Orofaciodigital Syndrome Viii |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:300484 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Gait ataxia, Spastic dysarthria, Spinocerebellar atrophy, Progressiv... |
ORPHA:95433 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Short stature |
ORPHA:2089 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Hypoxemia, Right ventricular hypertrophy |
ORPHA:860 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:310400 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Spastic tetraparesis, Progressive spastic paraparesis, Growth... |
ORPHA:496756 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
| Aicardi-Goutières Syndrome |
|
Tremor, Abnormal pyramidal sign, Chronic CSF lymphocytosis, Hypertonia, Extrapyramidal muscular r... |
ORPHA:51 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Macrocephaly |
OMIM:616294 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Short stature |
ORPHA:3085 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Lethargy |
OMIM:609015 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Short stature, Abnormal eyelash morphology, Hydrocephalus, Low p... |
ORPHA:1340 |
| Slc39A8-Cdg |
|
Cerebellar atrophy, Short stature, Inability to walk, Increased CSF lactate, Disproportionate sho... |
ORPHA:468699 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Spasticity, Hypertonia, Microcephaly |
ORPHA:544503 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Biotinidase Deficiency |
|
Alopecia, Ataxia, Myelopathy, Spastic paraparesis, Lethargy |
ORPHA:79241 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Ataxia |
ORPHA:1861 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Abnormal mitochondrial shape |
OMIM:610773 |
| Cardiofaciocutaneous Syndrome 1 |
|
Relative macrocephaly, Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyela... |
OMIM:115150 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Synophrys, Hypertonia, Intention tremor, Ataxia, Depression, Delayed puberty, Aortic regu... |
OMIM:619475 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Sinusitis, Chronic diarrhea, Bronchiectasis, Abnormal spe... |
OMIM:208900 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Hepatosplenomegaly |
OMIM:618955 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Ataxia, Highly arched eyebrow, Microcephaly, Hypoplasia of the pons, Inabilit... |
OMIM:618143 |
| Renal Hypoplasia, Bilateral |
|
Growth delay, Hypertension, Short stature, Lethargy |
ORPHA:97362 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis, Erythema, Furrowed tongue, Geographic tongue |
OMIM:614204 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Highly arched eyeb... |
ORPHA:309282 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Microcephaly,... |
ORPHA:543470 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy... |
ORPHA:646 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadochokine... |
OMIM:277460 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Hypertension, Short stature, Gliosis |
OMIM:120330 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:2180 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly, Intrauterine growth retardation |
ORPHA:3376 |
| Pitt-Hopkins Syndrome |
|
Ataxia, Aganglionic megacolon, Hiatus hernia, Postnatal growth retardation, Cryptorchidism, Gait ... |
ORPHA:2896 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Rhizomelia, Aganglionic megacolon, Malabsorption, Disproportionate short-limb short... |
ORPHA:175 |
| Poems Syndrome |
|
Hypogonadism, Erectile dysfunction, Thrombocytosis, Acrocyanosis, Polycythemia, Visceromegaly |
ORPHA:2905 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Ataxia, Microcephaly, Postnatal growth retardation, S... |
ORPHA:168577 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Microcephaly, Rigidity, Hirsutism, Progressive spastic quadriplegia... |
ORPHA:521426 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Macrocephaly, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, J... |
ORPHA:131 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Esop... |
ORPHA:1775 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Opisthotonus |
OMIM:210200 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Retinal telangiectasia, Postnatal growth retardation, Tremor, Abnormal pyr... |
OMIM:612199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Microcephaly, Meningoencephalocele, Hydrocephalus, Cer... |
OMIM:236670 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Tricuspid regurgitation, Synophrys, Normal pressure hydrocephalus, Bradycardia, Ne... |
OMIM:620351 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, ... |
ORPHA:2839 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Dilation of Virchow-Robin spaces, Supernumerary nipple, Highly arched eyebrow |
OMIM:619951 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Hematochezia, Stroke-like episode |
ORPHA:79095 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Pulmonary artery s... |
ORPHA:261537 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Low anterior hairline, Dystonic gait, Cerebral atrophy, Diffuse cerebell... |
ORPHA:480898 |
| Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy |
OMIM:614482 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Alopecia, Cerebral palsy, Opisthotonus |
OMIM:210210 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Macrocephaly, I... |
OMIM:616914 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia |
OMIM:244460 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Global brain atrophy, Microcephaly |
OMIM:608776 |
| Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Brittle hair, Ataxia, Cerebral atrophy, Growth delay, Cardiomyopathy |
OMIM:616084 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Slurred speech, De... |
ORPHA:90062 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum |
ORPHA:157 |
| East Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Difficulty walking, Action tremor |
ORPHA:199343 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Abnormal cerebellum morphology, Growth delay, Bradycardia, Lethargy, Agenesis... |
ORPHA:226307 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Esop... |
OMIM:615688 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... |
ORPHA:54028 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Sparse eyebrow, Gait ataxia, Macrocephaly, Cereb... |
OMIM:617011 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Apert Syndrome |
|
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Agenesis of... |
ORPHA:228308 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth re... |
OMIM:618541 |
| Cimdag Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Chorea, Cerebral atrophy, Pontocere... |
OMIM:619273 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ventriculomegaly, Ataxia, Thick hair, Synophrys, Hydrocephalus, Abnormal pyra... |
ORPHA:581 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gastroparesis, Primary amenorrhe... |
OMIM:157640 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Short stature, Partial agenesis of the corpus callosum, Hydrocephalus, Fin... |
OMIM:305450 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Hepatomegaly |
OMIM:613730 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Chiari type I malformation, Agenesis of corpus callosum, Agenesis o... |
ORPHA:261552 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Cerebellar atrophy, Short stature, Cerebral atrophy |
OMIM:268020 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Dysphagia, Stridor, Gastroesophageal reflux,... |
OMIM:230900 |
| Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis |
ORPHA:2004 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis |
OMIM:261680 |
| Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Thick eyebrow, Short stature, Synophrys, Macrocephaly, Asymmetric septal hype... |
OMIM:252940 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Short stature, Poor motor coordination, Microcephaly, Dysplastic c... |
OMIM:613406 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Hepatocellular carcinoma, Inflammation of th... |
OMIM:232240 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Macrocephaly at birth, Cerebellar atrophy, Ventriculomegaly, Tremor, Synophrys, Patent ductus art... |
ORPHA:280633 |
| 7Q11.23 Microduplication Syndrome |
|
Short stature, Sparse anterior scalp hair, Patent ductus arteriosus, Hydrocephalus, Unsteady gait... |
ORPHA:96121 |
| Myasthenia Gravis |
|
Hemolytic anemia, Acrocyanosis, Pure red cell aplasia, Dysphagia |
ORPHA:589 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardia, Lethargy, Abnormal ... |
ORPHA:97214 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Pneumonia, Chilblains, Pancytopeni... |
OMIM:615846 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia, Hypertonia |
OMIM:253270 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Cutis marmorata |
OMIM:616589 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Tachycardia |
OMIM:229700 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Growth delay, Clumsiness, Bradycardia, Lethargy |
ORPHA:90674 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Olivopontocerebellar hypoplasia, Abnormal hair whorl, Hydrocephalus, Hypoplastic aortic arch, Age... |
ORPHA:457284 |
| Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Lethargy |
OMIM:215600 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Hurler Syndrome |
|
Aortic regurgitation, Short stature, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Neurode... |
OMIM:607014 |
| Immunodeficiency 47 |
|
Normocytic anemia, Hepatomegaly, Accessory spleen, Splenomegaly, Chronic diarrhea, Recurrent infe... |
OMIM:300972 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus, Persistent left superior vena cava, Transposition of the great art... |
OMIM:314390 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Hiatus hernia, Malrotation of colon, Cryptorchidism, High, narrow palate,... |
OMIM:122470 |
| Mucopolysaccharidosis Type 1 |
|
Short stature, Congestive heart failure, Hydrocephalus, Hemiplegia/hemiparesis, Low anterior hair... |
ORPHA:579 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Short stature, Ataxia, Microcephaly, Tremor, Unst... |
OMIM:614947 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Hypoxemia, Intrauterine growth retardation, Right ventricul... |
ORPHA:555874 |
| Proteus-Like Syndrome |
|
Venous insufficiency, Hydrocephalus, Communicating hydrocephalus, Macrocephaly |
ORPHA:2969 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy |
OMIM:253700 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Transposition of the great arteries, Intrauterine growth retardation... |
ORPHA:1780 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia... |
ORPHA:247691 |
| Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
| Episodic Ataxia, Type 2 |
|
Episodic ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dystonia |
OMIM:108500 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gast... |
ORPHA:95455 |
| Mevalonic Aciduria |
|
Cerebellar atrophy, Agenesis of cerebellar vermis, Short stature, Ataxia, Microcephaly, Cerebral ... |
OMIM:610377 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Erythema |
ORPHA:829 |
| Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Premature ovarian insufficiency, Hypospadias, Allergic rhinitis, Recurrent vir... |
OMIM:176690 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Cardiomegaly |
ORPHA:439 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Macroglossia, Abnormality of ... |
ORPHA:354 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... |
OMIM:254900 |
| Posterior Urethral Valve |
|
Postnatal growth retardation, Hypertension, Lethargy |
ORPHA:93110 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Patent ductus ar... |
OMIM:602535 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Cerebral atrophy, Extra-axial cerebrospinal fluid accum... |
OMIM:618426 |
| Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil mor... |
ORPHA:171 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Neutropenia, Micropenis |
ORPHA:163956 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus, Cerebral cortical atrophy, Highly arched eyebrow |
OMIM:239300 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Sparse eyelashes, Sparse eyebrow, ... |
OMIM:605627 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Tremor, Patent ductus arteriosus, Cerebral atrophy, Choreoathetosis, Macrocep... |
OMIM:614080 |
| Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections |
ORPHA:182 |
| Craniopharyngioma |
|
Myocardial infarction, Proportionate short stature, Postnatal growth retardation, Hydrocephalus, ... |
ORPHA:54595 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Glomerulonephritis, Decreased response to growth hormone stimulation test, Thromboc... |
ORPHA:470 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating leptin ... |
ORPHA:2298 |
| Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia, Macrocephaly |
ORPHA:15 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Thick hair, Congestive heart failure, Patent ductus arterio... |
ORPHA:505248 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Postnatal growth retardation, Spina bifida occulta, Microcephaly |
OMIM:193700 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:604121 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflux, High pala... |
OMIM:619488 |
| Holoprosencephaly 13, X-Linked |
|
Microcephaly, Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Double outlet rig... |
OMIM:301043 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... |
ORPHA:70 |
| 6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Low anterior hairline, Dysmetria, Gait ataxia, Colpocephaly, Cerebellar hy... |
ORPHA:75857 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Highly arched eyebrow, Microcephaly, Spina bifida, Synophrys, Hydroceph... |
OMIM:613776 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Vascular dilatation |
OMIM:219730 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Bradykinesia, Dysdiadochokinesis, Gait di... |
ORPHA:309854 |
| Holoprosencephaly |
|
Encephalocele, Dandy-Walker malformation, Dystonia, Highly arched eyebrow, Microcephaly, Synophry... |
ORPHA:2162 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... |
OMIM:618249 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Highly arched eyebrow, Microcephaly, Sparse eyebrow, Postna... |
ORPHA:487796 |
| Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Short stature, Microcephaly, Patent ductus arterios... |
OMIM:270400 |
| Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Intrauterine growth retardation... |
ORPHA:314588 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Lethargy, Depression |
ORPHA:99832 |
| Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Short stature, Hydrocephalus, Disproportionate short-trunk short stature... |
OMIM:253200 |
| Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Short stature, Postnatal growth retardation, Patent ductus arter... |
ORPHA:1272 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Dysmetria, Cerebellar hypopl... |
OMIM:619708 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Microcephaly, Hydrocephalus, Hirsutism |
ORPHA:1865 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Short stature, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Macroglossi... |
OMIM:208400 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:620343 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Cerebellar vermis atrophy |
OMIM:618793 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski sign, Abnormal pyramida... |
ORPHA:447753 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Hepatomegaly, Left ventricular hypertrophy, Aspiration pneumonia |
OMIM:619167 |
| Apert Syndrome |
|
Overriding aorta, Hydrocephalus, Chiari type I malformation, Rhizomelic arm shortening, Cerebella... |
OMIM:101200 |
| Gaucher Disease |
|
Abnormal bleeding, Short stature, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Depressi... |
ORPHA:355 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Hydrocephalus, Neonatal short-limb short stature, Hirsutism |
OMIM:224400 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia |
ORPHA:314655 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Short stature, Microcephaly, Pulmonary artery stenosis, Unilateral vocal cord... |
OMIM:301030 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Short stature, Ataxia, Hypertension, Dysdiadochokinesis, Intention tremor |
OMIM:612780 |
| Noonan Syndrome 7 |
|
Short stature, Growth delay, Dysphagia, Impaired oropharyngeal swallow response, Abnormal esophag... |
OMIM:613706 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Polysplenia |
OMIM:616749 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Short stature, Cerebral cortical atrophy |
ORPHA:1834 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Spasticity, Prolonged prothrombin time, Secondary microcephaly, Cerebellar hy... |
OMIM:618329 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Vascular dilat... |
OMIM:249000 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callos... |
OMIM:612651 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Patent ductus arteriosus, Hydrocephalus, Chiari malformation, Bruising susceptibility |
OMIM:618162 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Synophrys, Low anterior hairline, Ceph... |
OMIM:619841 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis, Macrocephaly |
OMIM:259700 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Neutropenia |
OMIM:271510 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Inability to walk, Gait ataxia, Tongue fasciculations, Head tremor, Facial pa... |
ORPHA:99949 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Paralysis, Hydrocephalus, Spastic paraplegia,... |
ORPHA:2072 |
| Stt3A-Cdg |
|
Cerebellar atrophy, Microcephaly |
ORPHA:370921 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Short stature, Microcephaly, Cerebral atrophy, Hippocampal atrophy, Limb hype... |
OMIM:618922 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Mac... |
OMIM:269860 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Short stature, Telangiectasia of the skin, Hydrocephalus, Growth delay, Cerebral cortical atrophy... |
OMIM:616007 |
| Late-Onset Isolated Acth Deficiency |
|
Lethargy, Orthostatic hypotension, Hypotension |
ORPHA:199299 |
| Knobloch Syndrome 1 |
|
Cerebellar atrophy, Occipital encephalocele, Ataxia, Microcephaly, Patent ductus arteriosus, Spin... |
OMIM:267750 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Speech apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Short stature... |
OMIM:617330 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Dysphagi... |
ORPHA:2745 |
| Holoprosencephaly 7 |
|
Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hydro... |
OMIM:610828 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Short stature, Ataxia, Postnatal growth retardation, Dysmetria, Secondary mic... |
OMIM:616263 |
| Argininemia |
|
Cerebellar atrophy, Postnatal growth retardation, Progressive spastic quadriplegia, Spastic parap... |
OMIM:207800 |
| Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Vomiting, Protein-losin... |
OMIM:619991 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Tremor, Pulmonary artery stenosis, Hydrocephalus, Growth delay, Macr... |
ORPHA:667 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Microcephaly |
ORPHA:2075 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Tremor, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiom... |
OMIM:610505 |
| Cockayne Syndrome B |
|
Dry hair, Severe short stature, Ataxia, Cerebellar calcifications, Microcephaly, Abnormal hair mo... |
OMIM:133540 |
| Marden-Walker Syndrome |
|
Severe short stature, Microcephaly, Hydrocephalus, Growth delay, Cerebellar hypoplasia, Intrauter... |
ORPHA:2461 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Secondary microcephaly, Opisthotonus |
OMIM:619685 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hematemesis, Splenomegaly, Esophageal varix, Pulmonary hypoplasia... |
OMIM:263200 |
| Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Glioma, Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Ependymoma, Unste... |
ORPHA:637 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Spasticity, Growth delay, Secondary microcephaly |
ORPHA:485421 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... |
ORPHA:79404 |
| Trisomy 8P |
|
Dandy-Walker malformation, Microcephaly, Hydrocephalus, Heart murmur, Low posterior hairline, Tet... |
ORPHA:264450 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Respiratory insufficiency, High palate, Vomiting, Mastocytosis |
ORPHA:2135 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta |
ORPHA:268249 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia |
ORPHA:2119 |
| Spinocerebellar Ataxia Type 7 |
|
Cerebellar atrophy, Ataxia, Congestive heart failure, Babinski sign, Cerebral atrophy, Dysmetria,... |
ORPHA:94147 |
| Coach Syndrome 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Esophageal varix, Growth delay |
OMIM:216360 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diver... |
ORPHA:141127 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondary microcephaly, Holoprosen... |
OMIM:618820 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta |
ORPHA:2437 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Abnormal hair pattern, Highly arched eyebrow, Microcephaly, Spastic tetraparesis, Pate... |
ORPHA:495818 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Thoracic aortic aneurysm, Postnatal growth retardation, Hydrocephalus, Ascending tub... |
ORPHA:536467 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia |
ORPHA:90673 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Short stature, Ataxia, Microcytic anemia, Protruding tongue, Leukocyt... |
ORPHA:99843 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Meconium ileus, Cyanosis, Difficulty walking |
OMIM:617239 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Gastroesophageal reflux, Hepatic hemangioma, Dysphagia, Penile hypospadias, Recurre... |
ORPHA:73230 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Hematemesis, Hypersplenism, Leukocy... |
ORPHA:480520 |
| Fucosidosis |
|
Hepatomegaly, Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
| Lathosterolosis |
|
Microcephaly, Meningocele, Chiari malformation, Biparietal narrowing, Myoclonus, Intrauterine gro... |
ORPHA:46059 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Gastritis |
ORPHA:31826 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
| Osteopathia Striata With Cranial Sclerosis |
|
Short stature, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Hydrocephalus, ... |
OMIM:300373 |
| Familial Dysautonomia |
|
Ataxia, Growth delay, Gastroesophageal reflux, Gait disturbance, Acrocyanosis |
ORPHA:1764 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Incoordination, Short stature, Microcephaly, Hypoplasia of the pons, Subcorti... |
ORPHA:468678 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Facial paralysis |
OMIM:259710 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cryptor... |
ORPHA:2273 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum, Aplasia ... |
OMIM:300291 |
| Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Macrocephaly |
ORPHA:2268 |
| Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Low anterior hairline, Macrocephaly, F... |
OMIM:260660 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Postnatal growth retardation,... |
ORPHA:3472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Prominent scalp veins, Dandy-Walke... |
OMIM:264090 |
| Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Ataxia, ST segment depression, Hypotension, Abnormal T-... |
ORPHA:466650 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Cyanosis, Aplasia of the uterus |
OMIM:619879 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Hajdu-Cheney Syndrome |
|
Mitral stenosis, Short stature, Synophrys, Patent ductus arteriosus, Low anterior hairline, Hydro... |
ORPHA:955 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Generalized abnormality of skin, Esophageal varix, Hepatosplenomegaly |
ORPHA:367 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Recurrent urinary tract infections, Cholangiocarcin... |
ORPHA:731 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Small scrotum, Pancytopenia, Intestinal malrotation, Tachypne... |
OMIM:613658 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Cerebellar atrophy, Cerebral atrophy |
OMIM:616266 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Short stature, Microcephaly, Postnatal growth retardation, Hydrocephalus, Low ... |
ORPHA:235 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Episodic vomiting, ... |
ORPHA:330021 |
| Costello Syndrome |
|
Curly hair, Short stature, Enlarged cerebellum, Hydrocephalus, Cerebral atrophy, Chiari type I ma... |
OMIM:218040 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
| Kabuki Syndrome |
|
Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Coarctation of aorta, Long eye... |
ORPHA:2322 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Plague |
|
Respiratory distress, Chapped lip, Hepatomegaly, Glossitis, Skin rash, Erythema nodosum, Lymphade... |
ORPHA:707 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Abnormality of secondary sexual hair, Delayed puberty |
ORPHA:91348 |
| Glycogen Storage Disease Iv |
|
Esophageal varix, Hepatosplenomegaly |
OMIM:232500 |
| Jacobsen Syndrome |
|
Microcephaly, Abnormal eyelash morphology, Hydrocephalus, Holoprosencephaly, Macrocephaly, Intrau... |
OMIM:147791 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Generalized hirsutism |
ORPHA:626 |
| Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Prominent superficial veins, Absent nipple, Tricuspid regurgitation, Cerebella... |
OMIM:612289 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Lethargy, Intrauterine growth retardation |
OMIM:617156 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Chiari type I malformation, Hydrocephalus, Aortic aneurysm, Microcephaly |
OMIM:182212 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Relative macrocephaly, Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Tre... |
OMIM:300967 |
| Dextrocardia |
|
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries |
ORPHA:1666 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
| Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Macrocephaly |
OMIM:100800 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Cerebellar vermis atrophy |
ORPHA:163681 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Alopecia, Short stature, Arterial tortuosity, Pa... |
OMIM:619472 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Hydro... |
OMIM:261740 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Short stature, Trichiasis, Highly arched eyebrow, Cardiac ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Short stature, Trichiasis, Highly arched eyebrow, Cardiac ... |
ORPHA:353277 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Cyanosis, Cardiomegaly |
ORPHA:3427 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short stature, Rhizomelia, Hydrocephalus, Low posterior hairline, Aortic root aneurysm, Thick eye... |
OMIM:245600 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Short stature, Ataxia, Hydrocephalus, Arterial stenosis, Hyp... |
ORPHA:636 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Splenomegaly, Leukocytosis, Esophag... |
ORPHA:53035 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor... |
OMIM:101800 |
| Alg9-Cdg |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Tricuspid regurgitation, Rhizomelia, Cere... |
ORPHA:79328 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti... |
ORPHA:449395 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Hypopnea, Restrictive ventilatory defect, C... |
OMIM:619482 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Chiari type I malformation, Hypertonia, Sparse hair, Agenesis of corpus callos... |
ORPHA:3455 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Tremor, Choreoathetosis, Myoclonus, D... |
ORPHA:1934 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Ventriculomegaly |
OMIM:618188 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Sparse eyebrow, Gait ataxia, Cerebellar hypoplasia... |
ORPHA:457359 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature |
OMIM:602361 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Inflammation of t... |
ORPHA:3243 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Bipolar affective disorder, Short stature, Spina bifida, Microcephal... |
ORPHA:567 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Transient neutropenia, Chronic neutropenia, Enlarged kidney |
ORPHA:500095 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Hydrocephalus |
ORPHA:1555 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
| Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... |
OMIM:609192 |
| Coffin-Siris Syndrome |
|
Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent infections, ... |
ORPHA:1465 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Chiari malformation, Ventriculomegaly, Macrocephaly |
ORPHA:77301 |
| Raine Syndrome |
|
Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Neonatal death |
OMIM:259775 |
| Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Short stature, Gliosis |
OMIM:618846 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Right bundle branch block, Ascending tubular aorta aneurysm, Gliosis, H... |
OMIM:617403 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly |
ORPHA:1335 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Absent nipple, Hydrocephalus |
OMIM:104350 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Int... |
ORPHA:353281 |
| Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Leukocytosis, Sepsis, Vomiting, Aspiration pneumonia, Dysphagia, Thrombocytos... |
ORPHA:94093 |
| Hereditary Fructose Intolerance |
|
Growth delay, Lethargy |
ORPHA:469 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Severe short stature, Microcephaly, Abnormal eyelash morphology, Hydroce... |
ORPHA:2556 |
| Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Ependymoma, Depression, Melena, Hypertension, Lethargy |
ORPHA:652 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Recurrent aspiration pneumonia, Cleft palate, Duodenal atresia |
OMIM:247200 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Hamartoma of tongue, Esophageal diverticulum, Uterus didelphy... |
OMIM:617925 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Microcephaly, Hydrocephalus, Intrauterine growth retardation, Cerebellar... |
OMIM:619321 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Crohn's disease |
OMIM:249100 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
| Holoprosencephaly 9 |
|
Short stature, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosence... |
OMIM:610829 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1064 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Microcephaly, Mitral regurgitation, Chiari malformation, Ventriculom... |
ORPHA:2462 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig cells, Testicul... |
ORPHA:3063 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly |
OMIM:617809 |
| Orofaciodigital Syndrome Ix |
|
High palate, Recurrent aspiration pneumonia, Cleft palate |
OMIM:258865 |
| Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Transient neutropenia |
OMIM:617107 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Esophageal varix, Pulmonary arterial hypertension, Right ventricular... |
OMIM:616028 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Acrocyanosis, Gastroesophageal reflux |
OMIM:223900 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Hardikar Syndrome |
|
Cholangitis, Vomiting, Hepatomegaly, Cleft soft palate, Pulmonary artery stenosis, Partial anomal... |
OMIM:301068 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Cerebellar vermis atrophy, Hypoplastic nipples, Dandy-Walker malformation, Microcephaly |
OMIM:156610 |
| Fanconi Anemia |
|
Short stature, Spina bifida, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Growth delay,... |
ORPHA:84 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis, Calcification of the aorta |
OMIM:231005 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis |
OMIM:277320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Spasticity, Cerebellar hypoplasia, Myoclonus, Cerebellar cyst, Ventr... |
OMIM:253280 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythe... |
ORPHA:221 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Severe short stature, Agenesis of corpus callosum, Macrocephaly |
ORPHA:2658 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Focal Dermal Hypoplasia |
|
Brittle hair, Short stature, Supernumerary nipple, Microcephaly, Hydrocephalus, Myelomeningocele,... |
OMIM:305600 |
| Mend Syndrome |
|
Short stature, Hydrocephalus, Hypertonia, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
| Mend Syndrome |
|
Short stature, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation, Limb hypertonia |
ORPHA:401973 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Low posterior hai... |
ORPHA:261337 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia |
ORPHA:2166 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
| Hajdu-Cheney Syndrome |
|
Short stature, Short nail, Synophrys, Patent ductus arteriosus, Hirsutism, Hydrocephalus, Long ey... |
OMIM:102500 |
| Peters-Plus Syndrome |
|
Rhizomelia, Microcephaly, Postnatal growth retardation, Patent ductus arteriosus, Hydrocephalus, ... |
OMIM:261540 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
| African Trypanosomiasis |
|
Tremor, Choreoathetosis, Abnormal EKG, Alopecia, Abnormal central motor function, Paralysis, Apat... |
ORPHA:3385 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Lethargy, Bradycardia |
OMIM:218700 |
| Knobloch Syndrome |
|
Abnormal hair morphology, Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
| Coffin-Siris Syndrome 12 |
|
Sparse scalp hair, Short stature, Highly arched eyebrow, Microcephaly, Synophrys, Low anterior ha... |
OMIM:619325 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Sclerosing cholangitis, Esophageal varix, Bile duct proliferation, Hepatomegaly |
OMIM:619662 |
| Wolf-Hirschhorn Syndrome |
|
Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Low posterior hairline, Growth... |
OMIM:194190 |
| Glycerol Kinase Deficiency |
|
Growth delay, Lethargy, Short stature |
OMIM:307030 |
| Sponastrime Dysplasia |
|
Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-limb short stature, Neutropen... |
ORPHA:93357 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
ORPHA:90652 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Cyanosis |
ORPHA:99106 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Hypertension, Chiari malformation, Stillbirth, Delayed puberty, Hirsutism |
ORPHA:95699 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hypertension, Stroke, Budd-Chiari syndrome, Lethargy |
ORPHA:447 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614083 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... |
OMIM:616268 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Short stature, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis, Macr... |
ORPHA:363700 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Absence Of The Pulmonary Artery |
|
Growth delay, Cyanosis, Cardiomegaly, Hypocapnia |
ORPHA:980 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Restrictive cardiomyopathy, Patent ductus arteriosus, Global brain atrophy |
ORPHA:369837 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Lethargy |
OMIM:229600 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal giant-cell astrocytoma, Depression, Hypertension, Pu... |
ORPHA:805 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Cerebellar atrophy, Patent ductus arteriosus, Partial anomalous pulmo... |
OMIM:270100 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Periodontitis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short statu... |
OMIM:163950 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
| Peters Plus Syndrome |
|
Short stature, Rhizomelia, Microcephaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:709 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Diarrhea, Vacuolated lymphocytes, P... |
ORPHA:275761 |
| Split Cord Malformation |
|
Neurogenic bladder, Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, ... |
ORPHA:573278 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Short stature, Celiac disease, Gastrointestinal dysmotility, Delayed puberty |
ORPHA:293987 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Esophageal stenosis, Adrenal insufficiency, Dysphagia, Achalasia |
OMIM:615510 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Precocious puberty, Cryptorchidism, Abnormality ... |
ORPHA:438213 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Dysphagia, Anemia, Hepa... |
OMIM:277900 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Glossoptosis, Macrogl... |
ORPHA:444077 |
| Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Short stature, Highly arched eyebrow, Hydrocephalus, Frontal upsweep of hair, ... |
ORPHA:221120 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Macrocephaly |
OMIM:109400 |
| Truncus Arteriosus |
|
Cyanosis, Cardiomegaly, Hypoplasia of the thymus, Intrauterine growth retardation, Right ventricu... |
ORPHA:3384 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Extrapyramidal muscular rigidity, Ataxia, Postural tremor, Un... |
ORPHA:67036 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
| Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
| Campomelic Dysplasia |
|
Relative macrocephaly, Short nail, Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportiona... |
OMIM:114290 |
| Arima Syndrome |
|
Hepatomegaly, Ataxia, Esophageal varix, Growth delay, Anemia |
OMIM:243910 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
| Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Abnormal eyebrow morphology, Hydrocephalus, Short stature |
ORPHA:1106 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal prolapse, Cervical insuffi... |
ORPHA:287 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Short stature, Peripheral arterial stenosis, Growth delay, Cardiomyo... |
ORPHA:580 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Meckel Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ma... |
ORPHA:564 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Short nail, Supernumerary nipple, Patent ductus arteriosus, Hydroce... |
OMIM:312870 |
| Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocephalus, Macrocepha... |
ORPHA:3310 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Intrauterine growth retardation, Severe short stature, Microcephaly |
OMIM:210730 |
| Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis |
ORPHA:268943 |
| Monosomy 22Q13.3 |
|
Long eyelashes, Macrocephaly, Agenesis of corpus callosum, Thick eyebrow, Cerebellar cortical atr... |
ORPHA:48652 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Recurrent Staphylococcus aureus i... |
ORPHA:642 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Hydrocephalus, Chiari malformation, Severe intrauterine grow... |
OMIM:218600 |
| Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
| Pmm2-Cdg |
|
Pericarditis, Cerebellar vermis hypoplasia, Angina pectoris, Ataxia, Abnormality of coordination,... |
ORPHA:79318 |
| Hydrolethalus Syndrome 1 |
|
Anencephaly, Stillbirth, Severe hydrocephalus, Intrauterine growth retardation, Agenesis of corpu... |
OMIM:236680 |
| Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
| Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Hydrocephalus, Stillbirth, Cerebellar hypoplasia |
OMIM:208150 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Short stature, Rectal prolapse, Narrow palate, High palate, Uterine prolapse, Ac... |
OMIM:303600 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Synophrys, Short stature, Hydrocephalus, Gait disturbance |
ORPHA:3042 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Malabsorption, Gastrointestinal dysmotility, Cystocele, Anore... |
ORPHA:285 |
| Senior-Boichis Syndrome |
|
Esophageal varix, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Neonatal respiratory distress, Apnea, Decreased response to growth hormone stim... |
OMIM:619503 |
| Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Dysph... |
OMIM:219800 |
| Goodpasture Syndrome |
|
Cyanosis, Anemia |
OMIM:233450 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Widow's peak, Hydrocephalus, Stillbirt... |
OMIM:304120 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Microcephaly, Absent eyelashes, Myelomeningocele, Hydrocephalus, E... |
OMIM:219000 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:606170 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the adrenal glands, Abnormal parotid gland morphology, Abnor... |
ORPHA:252164 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Cleft palate, Congenital hypothyroidism, Narrow palate... |
ORPHA:79500 |
| Aortic Arch Interruption |
|
Left ventricular hypertrophy, Cyanosis |
ORPHA:2299 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Roberts-Sc Phocomelia Syndrome |
|
Microcephaly, Postnatal growth retardation, Patent ductus arteriosus, Frontal encephalocele, Hydr... |
OMIM:268300 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Yellow Fever |
|
Neutrophilia, Hematemesis, Leukocytosis, Jaundice, Pancreatic hyperplasia, Thrombocytopenia |
ORPHA:99829 |
| Oeis Complex |
|
Myelomeningocele, Chiari malformation, Hydrocephalus |
OMIM:258040 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... |
OMIM:164210 |
| Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly, Microcephaly |
OMIM:107480 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Cardiomegaly |
ORPHA:51608 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
| Yunis-Varon Syndrome |
|
Absent nipple, Hypospadias, Cryptorchidism, Pyloric stenosis, High palate, Hypoplastic nipples, A... |
OMIM:216340 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Cyanosis, Cardiomegaly |
ORPHA:99125 |
| Cancer-Associated Retinopathy |
|
Diffuse cerebellar atrophy |
ORPHA:71505 |
