Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R... |
OMIM:613280 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Growth delay, Athetosis, Spasticity, Hypopigmentation of the skin |
OMIM:257800 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, U... |
OMIM:614602 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Increased circulating ferritin concentration, Ele... |
OMIM:615517 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Impo... |
OMIM:606069 |
Gemignani Syndrome |
|
Short stature, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Hypopigmented skin patche... |
ORPHA:2074 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... |
OMIM:607624 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Abnormal circulating creatine kinase... |
ORPHA:521411 |
Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Decreased circulating copper concentration, Early balding |
OMIM:121270 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Increased c... |
OMIM:235200 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray... |
ORPHA:33445 |
Cog2-Cdg |
|
Spastic tetraplegia, Decreased circulating ceruloplasmin concentration, Decreased circulating cop... |
ORPHA:435934 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Hyposerinemia |
OMIM:614023 |
Dyschromatosis Universalis Hereditaria |
|
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... |
ORPHA:241 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Familial Benign Copper Deficiency |
|
Early balding, Decreased circulating copper concentration, Short stature |
ORPHA:1551 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide... |
ORPHA:369 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Paraplegia, Gait disturbance, Spasticity, Hyperpigmentation of the skin |
ORPHA:2819 |
Porphyria Cutanea Tarda |
|
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Hyperpigmentat... |
OMIM:176100 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Huppke-Brendel Syndrome |
|
Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
OMIM:614482 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... |
OMIM:616719 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... |
ORPHA:263501 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis |
OMIM:271500 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Hepatocellu... |
ORPHA:465508 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... |
ORPHA:309854 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia, Iris... |
ORPHA:79476 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Generalized hyperpigmentation, Increased circulating ferritin conc... |
ORPHA:79230 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Distal sensory impairment |
OMIM:614369 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Hepatic... |
OMIM:613489 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Urocanase Deficiency |
|
Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... |
OMIM:613490 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Cholestasis, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentatio... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Cholestasis, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentatio... |
ORPHA:71526 |
Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intrauterine growth retardation, He... |
OMIM:222470 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Hepatic failure, Short stature, Portal hypertension |
OMIM:210050 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... |
OMIM:601847 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se... |
OMIM:603358 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:614743 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... |
ORPHA:79397 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation... |
ORPHA:177910 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism |
ORPHA:2786 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... |
OMIM:277900 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... |
OMIM:614307 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Elevated hepatic tr... |
ORPHA:75563 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Low anterior hairline, Hypertrichosis, Amenorrhea, Low poster... |
ORPHA:528 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Hypertonia, Hyperphenylalaninemia, He... |
ORPHA:79254 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemi... |
OMIM:278000 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... |
OMIM:207800 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia |
OMIM:615361 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Hepatic steatosis, V... |
ORPHA:101330 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Inability to walk, Sacral hypertrichosis, High nonceruloplasmin-bound seru... |
ORPHA:457351 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Primary amenorrhea, Hyperuricemia,... |
OMIM:604367 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, ... |
ORPHA:84064 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil... |
OMIM:211600 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Obesity, Hypopigmentation of the skin, Iris h... |
ORPHA:411515 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks, Eosinophilia |
OMIM:614323 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo... |
OMIM:612716 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... |
OMIM:618387 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Growth de... |
OMIM:216360 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, Secondary amenorrhe... |
ORPHA:79083 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Hypopigm... |
OMIM:269920 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Short stature, Decreased fertility, Delayed puberty, Generalized hyp... |
ORPHA:1816 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:264580 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, He... |
ORPHA:231226 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:213200 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular... |
OMIM:256810 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co... |
OMIM:620306 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut... |
OMIM:615387 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... |
ORPHA:298 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation, Intrauterine growth r... |
OMIM:615010 |
Generalized Eruptive Histiocytosis |
|
Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Paronychia, Decreased serum zinc, Alop... |
OMIM:201100 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Transaldolase Deficiency |
|
Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Cirrhosis,... |
ORPHA:101028 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Saccharopinuria |
|
Short stature, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sen... |
ORPHA:3124 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... |
OMIM:215700 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hypopigmented skin patches, Ridged fingernail, Fingernail dysplas... |
ORPHA:2251 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Babinsk... |
OMIM:309400 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Hyperhidrosis, Dysdiadochokinesi... |
OMIM:618049 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... |
OMIM:610185 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Intrauterine growth retardation, Ataxia, Limb dystonia |
OMIM:620270 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Failure to thrive, Short stature, Ataxia... |
ORPHA:100 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic... |
ORPHA:254704 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly... |
ORPHA:231214 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:614742 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... |
ORPHA:14 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Jaundice,... |
ORPHA:79477 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Ataxia, Abnormal eyelash morphology, Si... |
ORPHA:381 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatos... |
OMIM:606003 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... |
OMIM:604290 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... |
ORPHA:1454 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Ataxi... |
ORPHA:98907 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Spasticity, Ataxia, Tremor |
OMIM:278780 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Somatic sensory dysfunction, Abnormal circulating po... |
ORPHA:79473 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Growth delay, Nail dystrophy, Cirrhosis, Testicular atrophy |
OMIM:613987 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ... |
OMIM:615980 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... |
ORPHA:254881 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating copper concentra... |
ORPHA:139417 |
Interstitial Lung Disease 2 |
|
Cirrhosis |
OMIM:178500 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Intrauterine g... |
OMIM:618541 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Roifman Syndrome |
|
Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenomegaly, Hippocampal atrophy |
ORPHA:353298 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive |
OMIM:602579 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin... |
ORPHA:367 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... |
OMIM:614831 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... |
ORPHA:30391 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnormal lymphocyte mor... |
ORPHA:39041 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... |
OMIM:208920 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Short stature |
OMIM:610798 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Roifman Syndrome |
|
Splenomegaly, Hepatomegaly, Prominent eyelashes, Eosinophilia |
OMIM:616651 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H... |
OMIM:603554 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Nail pits, Premature ... |
OMIM:127550 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Decre... |
OMIM:614867 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... |
ORPHA:391417 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Failure to thrive, Hypopigmentation of the skin, Ap... |
ORPHA:261304 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Adams-Oliver Syndrome |
|
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Hemipar... |
ORPHA:974 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Low posterior hairline, Azoospermia, Hepatic failure, Hypopigmentation of the skin |
ORPHA:261519 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Generalized hyperpigmentation, Hypertriglyceridemia, Cirrhosis,... |
ORPHA:79086 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Blue irides, Hyperphenylalaninemia, Generalized hypopigmentation,... |
OMIM:261600 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Ataxia |
OMIM:172850 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Absce... |
ORPHA:400 |
Mednik Syndrome |
|
Cholestasis, Growth delay, Hepatic fibrosis, Increased circulating very long-chain fatty acid con... |
OMIM:609313 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Coombs-positive... |
OMIM:304790 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly |
OMIM:232500 |
4H Leukodystrophy |
|
Dystonia, Short stature, Abnormality of thyroid physiology, Decreased response to growth hormone ... |
ORPHA:289494 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated ci... |
OMIM:276700 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly |
OMIM:618999 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Ataxia, Elevated... |
OMIM:615673 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Gait imbalance, Hypopigmentation of ... |
ORPHA:411511 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles |
OMIM:601706 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Thick hair, Elevated circulating creatine kinase concentration, Ataxia, Tremor, In... |
OMIM:617675 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Frontal upsweep of hair, Ataxia |
OMIM:300983 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Progressive gait ataxia,... |
OMIM:105830 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Obesity, Myoclonus, Gait imbalance, H... |
ORPHA:98794 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ataxia, Hypokalemia, Hyp... |
ORPHA:699 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... |
OMIM:616795 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... |
ORPHA:848 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased live... |
ORPHA:70472 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine ... |
OMIM:617744 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Spastic paraplegia, Blue irides, Hypopigmented skin patches, Prematu... |
OMIM:148820 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Short stature, Hyp... |
ORPHA:1775 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, Spasticity, Failure to thr... |
OMIM:616539 |
Wrinkly Skin Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Slurred speech, Progressive cerebell... |
ORPHA:2834 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche |
ORPHA:330050 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Cryptorchidism, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia,... |
OMIM:614969 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature, Hypopigmented skin patches, Hepatitis, Weight loss, Hypocalcemia, Failur... |
ORPHA:47 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... |
ORPHA:1170 |
Immunodeficiency 56 |
|
Hepatic failure, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection |
OMIM:615207 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Hyperhidrosis, Growth delay, Bradykinesia, D... |
ORPHA:70594 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, ... |
OMIM:602450 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Brittle hair, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hypo... |
OMIM:236200 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... |
OMIM:159950 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Leukodystrophy, Hypomyelinating, 6 |
|
Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the... |
ORPHA:167 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Dysmetria, Delayed puber... |
OMIM:607694 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, Babin... |
OMIM:301072 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Bloom Syndrome |
|
Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in fem... |
OMIM:210900 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Al-Raqad Syndrome |
|
Inability to walk, Hypopigmentation of the skin, Gait ataxia |
OMIM:616459 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:64753 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Obesity |
OMIM:620195 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... |
ORPHA:77293 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Alopecia |
OMIM:608118 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr... |
OMIM:304150 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Sclerosing cholangitis, C... |
OMIM:308230 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hypopigmentation of hair, Ataxia, Tremor, Splenomegaly, Jaundice, Silver-gray hair,... |
OMIM:214500 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... |
OMIM:183090 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Small for gestational age, Short stature, Porta... |
OMIM:613658 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia |
OMIM:256500 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... |
OMIM:308300 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Xerostomia, Cirrhosis |
ORPHA:779 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Diffuse cerebral atrophy, Malformation of the hepatic ductal plate... |
ORPHA:84081 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Hypopigmented skin patches, Irregular hyperpigmentation, Ab... |
ORPHA:2584 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Slc35A2-Cdg |
|
Elevated hepatic transaminase, Increased circulating thyroglobulin level, Failure to thrive in in... |
ORPHA:356961 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Short stature, Macronodular cirrhosis |
OMIM:215250 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia... |
ORPHA:293173 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly |
ORPHA:87876 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron, Overweight, Oromotor apraxia, Frontal upsweep of hair, Spasticity, Failure ... |
ORPHA:391372 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... |
ORPHA:171 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n... |
ORPHA:57777 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis... |
OMIM:269200 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:612953 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin... |
ORPHA:541423 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H... |
ORPHA:228426 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Growth delay, Cirrhosis, Delayed puberty, Biliary trac... |
ORPHA:77259 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Short stature, Cryptorchidism, Spotty hypopigmentatio... |
ORPHA:1867 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te... |
OMIM:616586 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... |
ORPHA:199299 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Short stature, Growth delay, Hypophosphatemic rickets, Hypopigmentation of the skin |
OMIM:163200 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance, Hyperhidrosis |
ORPHA:29822 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypogonadotropic hypogonadism, Im... |
OMIM:176270 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
O'Sullivan-Mcleod Syndrome |
|
Atrophy of the spinal cord, Eosinophilia |
ORPHA:99965 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Ataxia, Reticulated skin pigm... |
OMIM:305000 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Short stature, Elevated ci... |
OMIM:615356 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Tremor, Inability to walk, Obesity, Myoclonus, Delayed menarche, Fair h... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Gaucher Disease |
|
Hepatomegaly, Short stature, Ataxia, Elevated circulating C-reactive protein concentration, Tremo... |
ORPHA:355 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Short stature, Ataxia, Premature graying of hai... |
ORPHA:3322 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro... |
OMIM:616353 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... |
ORPHA:464 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Tremor, Oromotor apraxia, Primary hypothyroidism, H... |
ORPHA:300536 |
Alg3-Cdg |
|
Spastic tetraparesis, Hypertonia, Decreased liver function, Dystonia, Hypopigmentation of the skin |
ORPHA:79321 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia... |
OMIM:312170 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,... |
ORPHA:1807 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Male infertility, Failure to thrive in infa... |
OMIM:219800 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Obe... |
ORPHA:3077 |
Ataxia-Telangiectasia |
|
Failure to thrive, Dystonia, Short stature, Ataxia, Elevated circulating alpha-fetoprotein concen... |
OMIM:208900 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ... |
OMIM:313200 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Slc39A8-Cdg |
|
Abnormal blood zinc concentration, Failure to thrive in infancy, Short stature, Inability to walk... |
ORPHA:468699 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... |
ORPHA:69087 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Localized Epidermolysis Bullosa Simplex |
|
Paresthesia, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys... |
OMIM:614381 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Xeroderma Pigmentosum, Complementation Group F |
|
Short stature, Ataxia, Tremor, Numerous pigmented freckles, Decreased body weight, Freckling |
OMIM:278760 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Micronodular cirrhosis, Hemiparesis, Apraxia |
OMIM:192315 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis, Weight loss |
OMIM:613239 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Paralysis, Microvesic... |
OMIM:203700 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Dystrophic fingernails, Eosinophilia |
ORPHA:2314 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, White hair, Ocular albinism, Hypertonia, Generalized hypopigmentation, Iri... |
ORPHA:2720 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypertonia, Gait disturbance, Multiple cafe... |
ORPHA:3214 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Hypopigmented skin patches, Delayed puberty |
ORPHA:1825 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... |
ORPHA:765 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss of eyelashes,... |
OMIM:263700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Primary amenorrhea, Gr... |
ORPHA:502423 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... |
OMIM:616505 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titub... |
OMIM:312080 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphocytosis |
ORPHA:139402 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired temperature sensation, Cryptorc... |
ORPHA:398079 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... |
OMIM:617988 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... |
ORPHA:79095 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Alopecia, Pre... |
ORPHA:881 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Ataxia, Aplasia/Hypoplasia of the pancreas, Abno... |
ORPHA:456312 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... |
OMIM:618156 |
Cystathioninuria |
|
Cystathioninemia, Tremor |
ORPHA:212 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased ... |
OMIM:608594 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Sparse eyelashes, Alopecia totalis, Small for gestational age, Short stature, Sparse ... |
ORPHA:2909 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age... |
ORPHA:98754 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis |
ORPHA:525 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Short s... |
ORPHA:221008 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Concave nail, Tremor, Cryptorchidism, Blue irides, Fine hair, Gr... |
OMIM:300978 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... |
ORPHA:999 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,... |
ORPHA:3261 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age... |
ORPHA:98793 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Tremor, Cryptorchidism, Trun... |
OMIM:300957 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age... |
ORPHA:177904 |
Attenuated Chédiak-Higashi Syndrome |
|
Incoordination, Ocular albinism, Hypertonia, Abnormality of extrapyramidal motor function, Genera... |
ORPHA:352723 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Small for gestational age... |
ORPHA:177901 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Cerebral cortical atrophy |
ORPHA:1164 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Growth delay, Decreased circulating carnitine concentration, Decreased seru... |
ORPHA:89842 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Short stature, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Small nai... |
OMIM:251300 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Eosinophilia, Hypopigmented skin patches |
ORPHA:183 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Short stature, Ataxia, Postnatal growth retardation, Wei... |
OMIM:212750 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Increase... |
ORPHA:398069 |
Typhoid |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia |
ORPHA:99745 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Severe short stature, Hypopigmented skin patches |
ORPHA:3239 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Pancreatic islet-cell hyperplasia, Hyperhidrosis |
ORPHA:276608 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... |
OMIM:118450 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Blue irides, Obesity, Red hair, Mild short stature, Fair hair, Intrauterine growt... |
OMIM:614613 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Tremor, Failure to thrive, Decreased body mass i... |
ORPHA:370079 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Tremor, Splenomegaly, Nail dystrophy, Irregular hyperpigmentation |
ORPHA:3162 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Abnorm... |
ORPHA:163746 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ... |
ORPHA:98870 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Elevated hemoglobin A1c, Ataxia, Postnatal growth retardation, Central hypothyroid... |
OMIM:616113 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Intrauterine gro... |
OMIM:617710 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Hypercalcemia, Weight loss |
ORPHA:94080 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Synophrys, Abnormality of skin pigmentation, Hypertonia, Hepatic steatosis, Hypopigmentat... |
OMIM:619475 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... |
ORPHA:79430 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi... |
ORPHA:3260 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, P... |
ORPHA:125 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Cryptorchidism, Hypopig... |
OMIM:609136 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Fail... |
ORPHA:556037 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Short stature, Cryptorchidism, Growth de... |
ORPHA:221016 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Impaired temperature sensation, Cryptorchidism, Primary ... |
ORPHA:739 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Tremor, Opisthotonus, Growth delay, Choreoathetosis, Hyperkinetic movements, ... |
OMIM:616271 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Fail... |
ORPHA:556030 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... |
ORPHA:508533 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Growth delay, Cholestatic liver diseas... |
OMIM:270400 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Splenomegaly, Gr... |
OMIM:252500 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Dysmetria |
OMIM:615578 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Cholestasis, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Gait disturban... |
ORPHA:457485 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem... |
ORPHA:845 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Increased body weight, Low posterior hai... |
OMIM:300860 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, A... |
ORPHA:3008 |
Hartnup Disease |
|
Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Ataxia |
ORPHA:2116 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Macronodula... |
OMIM:620005 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Ataxia, Hypermelanotic macule... |
ORPHA:90321 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth... |
ORPHA:2686 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Fine hair, ... |
OMIM:612199 |
Epidermal Nevus Syndrome |
|
Progressive spastic paraparesis, Babinski sign, Hypertonia, Hypopigmentation of the skin, Hyperpi... |
ORPHA:35125 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypogonadism, Hypopigmented skin patches |
ORPHA:3143 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... |
ORPHA:90363 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi... |
OMIM:619534 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... |
OMIM:219700 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Paresthesia, Hypopigmented skin patches |
ORPHA:2875 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
12Q14 Microdeletion Syndrome |
|
Short stature, Hyperpigmentation of the skin, Tremor, Abnormality of the spleen, Synophrys, Intra... |
ORPHA:94063 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Hypopigmented skin patches, Spastic diplegia, Opisthotonus, Ankl... |
ORPHA:206436 |
Vici Syndrome |
|
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Postnatal... |
OMIM:242840 |
Kallmann Syndrome |
|
Decreased testicular size, Dyspareunia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchi... |
ORPHA:478 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Short stature, Iris transillumination defect, Decreased body weight |
OMIM:617306 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Sparse eyebrow, Early balding, Hypopigme... |
ORPHA:2067 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Cryptorchidism, Hyperammonemia, Growth delay, Intentio... |
OMIM:614052 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai... |
ORPHA:512 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Hypopigmented skin patches, Spastic diplegia,... |
ORPHA:2715 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha... |
OMIM:614077 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Generalized hypopi... |
OMIM:619321 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Vocal cord paralysis, Abnormality of skin pigmentation, Prematu... |
OMIM:619488 |
Hyperlysinemia |
|
Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,... |
ORPHA:2203 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Sarcoidosis |
|
Hepatomegaly, Alopecia, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Throm... |
ORPHA:797 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Cholecystitis, Hype... |
ORPHA:69665 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Xerostomia, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Tremor, Splenomegaly, Thyrotoxicosis with diffuse go... |
ORPHA:525731 |
Vici Syndrome |
|
Hypopigmentation of the skin, Short stature, Abnormality of retinal pigmentation |
ORPHA:1493 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Delayed puberty, Intrauterine growth retardation, Gen... |
ORPHA:3121 |
Cryptococcosis |
|
Peritonitis, Lymphoid leukemia, Cerebral cortical atrophy, Cirrhosis |
ORPHA:1546 |
Coccidioidomycosis |
|
Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Granulom... |
ORPHA:228123 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Tremor, Cryptorchidism, Jaundice, Hypertonia, Hypoproteinemia |
OMIM:608093 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna... |
OMIM:227810 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss of ambulation... |
OMIM:607426 |
Hepatoerythropoietic Porphyria |
|
Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Loss of eyelashes, Sple... |
ORPHA:95159 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnorm... |
ORPHA:678 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonadism, Obesity, Intrauterine gro... |
ORPHA:177907 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Ataxia, Cryptorchidism, Ocular albinism, Abnormal pyrami... |
ORPHA:2719 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Hypohidrosis, Bradykinesia |
OMIM:146500 |
Xeroderma Pigmentosum |
|
Alopecia, Short stature, Hypermelanotic macule, Ataxia, Cryptorchidism, Hypopigmented skin patche... |
ORPHA:910 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Hepatosple... |
OMIM:608233 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Pancreatitis, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H... |
OMIM:610505 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... |
OMIM:619632 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Cryptorchidism, Hypopigmented s... |
ORPHA:1647 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Ataxia, Tremor, Splenomegaly, Spasti... |
OMIM:613179 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Tremor, Synophrys, Gait ataxia, Failure to thrive |
ORPHA:476126 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Cachexia, Melanocytic nevus, Multiple cafe-au... |
ORPHA:1969 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Alström Syndrome |
|
Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature,... |
ORPHA:64 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Dystonia |
ORPHA:330021 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Harrod Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Hypopigmented skin patches, Cryptorchidism |
ORPHA:2115 |
Congenital Erythropoietic Porphyria |
|
Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Loss of eyelashes, Sple... |
ORPHA:79277 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gait ataxia, Limb ... |
ORPHA:646 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Brushfield spots, Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the... |
ORPHA:1784 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypo... |
OMIM:619991 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail |
ORPHA:1295 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cirrhosis, Failure to thrive, Decreased ... |
ORPHA:586 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis, Hypopigmenta... |
OMIM:301066 |
Mosaic Trisomy 8 |
|
Short stature, Cryptorchidism, Hypopigmented skin patches, Hypopigmentation of the skin, Decrease... |
ORPHA:96061 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, Spotty hypopi... |
OMIM:615789 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia, Hyperhidrosis |
ORPHA:28378 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ab... |
ORPHA:449395 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Mixed hypo- and hyperpigmentation of the ski... |
ORPHA:79456 |
Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Eosinophilia, Abnormal pancreas morphology, Cholangitis |
ORPHA:449432 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp |
OMIM:618373 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Intellectual Disability And Myopathy Syndrome |
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Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Elevated hepatic transaminase, Resting tremor, Hyperthyroidism, Ataxia, Elevated circulating crea... |
ORPHA:254892 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Serotonin Syndrome |
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Clonus, Tremor, Rigidity, Hyperhidrosis, Hypertonia, Myoclonus, Hepatic failure |
ORPHA:43116 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Speech apraxia, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Postnata... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Speech apraxia, Alopecia, Slender build, Small for gestational age, Testicular neoplasm, Postnata... |
ORPHA:363958 |
Carney Complex, Type 1 |
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Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Tremor, Vocal cord paralysis, Hypercalcemia, Weight loss |
ORPHA:276621 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Sparse scalp hair, Hypercholesterolemia, Hypoammonemia, Short stature, Clonus, Cryp... |
ORPHA:534 |
Crouzon Syndrome |
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Hypopigmented skin patches, Melanocytic nevus |
ORPHA:207 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus |
OMIM:619424 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Elevated circulati... |
ORPHA:94093 |
Pitt-Hopkins Syndrome |
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Ataxia, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Hypopigmented skin pa... |
ORPHA:2896 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal... |
ORPHA:449563 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Disproportionate short stature, Hypopigmented skin patches, Fine hair, Truncal obesity, Multiple ... |
ORPHA:2637 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Autoimmune Polyendocrinopathy Type 1 |
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Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Acute Radiation Syndrome |
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Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
Triosephosphate Isomerase Deficiency |
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Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cholecystitis, Prolonged neonatal jaundi... |
OMIM:615512 |
Methylmalonic Aciduria, Cbla Type |
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Methylmalonic acidemia, Hepatomegaly, Tremor, Hyperammonemia, Hyperglycinemia, Failure to thrive |
OMIM:251100 |
Cockayne Syndrome A |
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Hepatomegaly, Dry hair, Short stature, Ataxia, Tremor, Splenomegaly, Retinal pigment epithelial m... |
OMIM:216400 |
Diaphanospondylodysostosis |
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Intrauterine growth retardation, Hypoplastic fingernail, Abnormal liver lobulation, Disproportion... |
OMIM:608022 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Abnormality of hair texture, Tremor, Splenomegaly, Growth delay, Hypocalcemia, Hypo... |
ORPHA:667 |
Atypical Werner Syndrome |
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Abnormal hair whorl, Premature graying of hair, Hepatic steatosis, Alopecia, Premature ovarian in... |
ORPHA:79474 |
Cockayne Syndrome B |
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Hepatomegaly, Dry hair, Severe short stature, Ataxia, Small for gestational age, Abnormal hair mo... |
OMIM:133540 |
Xeroderma Pigmentosum, Complementation Group C |
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Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Lymphatic Filariasis |
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Hypereosinophilia, Hyperpigmentation of the skin |
ORPHA:2035 |
Acute Intermittent Porphyria |
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Hyponatremia, Somatic sensory dysfunction, Tremor, Pseudobulbar paralysis, Respiratory paralysis,... |
ORPHA:79276 |
Curry-Jones Syndrome |
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Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Tremor, Kinetic tremor |
OMIM:190310 |
Neurofibromatosis Type 1 |
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Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short... |
ORPHA:636 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Tremor, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal jaundice, Inc... |
OMIM:274150 |
Eec Syndrome |
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Slow-growing hair, Short stature, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrop... |
ORPHA:1896 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Sparse scalp hair, Postnatal growth retardation, Disproportionate short stature, Areas of hypopig... |
OMIM:210720 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ... |
OMIM:604292 |
Localized Scleroderma |
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Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... |
ORPHA:90289 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
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Hypopigmentation of the skin |
OMIM:620237 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail, Intrauterine growth retardation |
ORPHA:99776 |
Mismatch Repair Cancer Syndrome 1 |
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Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin |
OMIM:276300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse scalp hair, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse ... |
OMIM:129900 |
Focal Dermal Hypoplasia |
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Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Supernumerary nipple, Cryptor... |
OMIM:305600 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Elevated cir... |
ORPHA:466677 |
Epidermodysplasia Verruciformis |
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Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Sotos Syndrome |
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Hypercalcemia, Tremor, Sparse anterior scalp hair, Cryptorchidism, Poor coordination, Decreased f... |
ORPHA:821 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased serum iron |
OMIM:616959 |
Mend Syndrome |
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Short stature, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty h... |
ORPHA:401973 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Hepatomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Duane Retraction Syndrome |
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Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... |
ORPHA:233 |
Fanconi Anemia |
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Short stature, Cryptorchidism, Hypopigmented skin patches, Weight loss, Abnormality of skin pigme... |
ORPHA:84 |
X-Linked Intellectual Disability, Snyder Type |
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Short stature, Involuntary movements, Sparse eyebrow, Inability to walk, Synophrys, Patchy hypo- ... |
ORPHA:3063 |
X-Linked Intellectual Disability, Nascimento Type |
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Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Abnormal hair whorl, Synophrys, Patchy hypo- ... |
ORPHA:163956 |
African Trypanosomiasis |
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Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Alopecia, Abnormal central motor ... |
ORPHA:3385 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Dystonia, Small for gestational age, Ataxia, Highly arched eyebrow, Tremor, Microvesicular hepati... |
OMIM:220111 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Short stature, Hypermelanotic macule, Spastic diplegia, Hypopigmented skin patches on arms, Progr... |
OMIM:607944 |
3-Methylglutaconic Aciduria, Type Viii |
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Clonus, Tremor, Jaundice, Growth delay, Hypertonia, Dystonia, Neonatal death, Failure to thrive |
OMIM:617248 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem... |
OMIM:600376 |
Menkes Disease |
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Hypopigmentation of hair, Chorea, Hypertonia, Prolonged neonatal jaundice, Sparse hair, Woolly ha... |
ORPHA:565 |
Familial Tumoral Calcinosis |
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Splenomegaly, Hepatomegaly, Hypopigmented skin patches |
ORPHA:53715 |
22Q11.2 Deletion Syndrome |
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Short stature, Splenomegaly, Cryptorchidism, Hypopigmented skin patches, Obesity, Hypocalcemia, C... |
ORPHA:567 |
Hereditary Acrokeratotic Poikiloderma |
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Short stature, Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophi... |
ORPHA:2907 |
Cushing Disease |
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Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment... |
ORPHA:96253 |
Cowden Syndrome |
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Short stature, Ataxia, Hypopigmented skin patches, Melanocytic nevus, Multiple cafe-au-lait spots... |
ORPHA:201 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Hypereosinophilia, Hirsutism |
OMIM:619472 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem... |
OMIM:187300 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Mosaic Trisomy 20 |
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Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin,... |
ORPHA:1724 |
Systemic Sclerosis |
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Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Spotty hyp... |
ORPHA:90291 |
Brittle Cornea Syndrome |
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Gait disturbance, Abnormality of hair pigmentation |
ORPHA:90354 |
Chromomycosis |
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Hypopigmented skin patches |
ORPHA:182 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Growth delay, Decreased plasma total carnitine, Decreased serum zinc, Nail dystrophy, Delayed pub... |
ORPHA:79408 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Broad-based gait, Short stature, Involuntary movements, Decreased s... |
ORPHA:438213 |
Pemphigus Erythematosus |
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Hypopigmented skin patches |
ORPHA:79480 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Failure to thrive, Severe short stature, Abnormal eyelash mo... |
ORPHA:2556 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Rhizomelia, Supernumerary nipple, Mesomelic/rhizom... |
OMIM:601803 |
Mend Syndrome |
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Short stature, Cryptorchidism, Spotty hypopigmentation, Hypertonia, Failure to thrive |
OMIM:300960 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Elevated hepatic transaminase, Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the ski... |
ORPHA:95455 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair |
ORPHA:1974 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Pancreatic adenocarcinoma, Pancreatoblastoma, Leukocytosis, Hirsutism, Decreas... |
ORPHA:99889 |
Tetragametic Chimerism |
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Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches |
ORPHA:199310 |
Paroxysmal Nocturnal Hemoglobinuria |
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Decreased serum iron, Jaundice, Impotence, Unconjugated hyperbilirubinemia, Increased blood urea ... |
ORPHA:447 |
Dermatomyositis |
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Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail |
ORPHA:221 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Ataxia, Abnormality of coordination... |
ORPHA:79318 |
Kindler Syndrome |
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Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation |
OMIM:173650 |