Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Peroxisome Biogenesis Disorder 8B |
|
Very long chain fatty acid accumulation, Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrop... |
OMIM:614877 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Tremor |
OMIM:615945 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... |
OMIM:616053 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Spastic paraplegia |
OMIM:608220 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Tremor, Abnormal pyramidal sign, Gait ataxia, Limb dystonia, Hepatic steatosis, ... |
ORPHA:363400 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... |
OMIM:615768 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... |
ORPHA:363710 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Short sta... |
ORPHA:314811 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Seizure, Dystoni... |
ORPHA:67046 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi... |
ORPHA:314978 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Seizure, Rec... |
ORPHA:79299 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Abnormal pyramidal sign, Dysmetria, Truncal at... |
OMIM:616948 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal ... |
ORPHA:171706 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... |
OMIM:607250 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria |
OMIM:617917 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations |
OMIM:608030 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progress... |
ORPHA:284332 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Seizure, Abnormality of the liver, Unconjugated hyperbilirubin... |
ORPHA:79234 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Epilepsia partialis continua, Hypergonadotropic hypogonadism, Elevated circul... |
OMIM:271245 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor |
OMIM:253550 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity... |
OMIM:240900 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Gait disturbance, Myoclon... |
OMIM:221770 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Short stature, Hype... |
ORPHA:369 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Decreased response to growth hormone stimulation test, S... |
OMIM:300148 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Seizure, H... |
ORPHA:26792 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Short stature, Hypogonadotropic hypogo... |
OMIM:604168 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Ataxia, Cryptor... |
ORPHA:3363 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp... |
ORPHA:101097 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... |
ORPHA:521406 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Nausea, Paraplegia, Neuronal loss in central nervous system, Periphe... |
ORPHA:71211 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Optic atrophy, Seizure, Hypertonia, Neurodegeneration, Vomiting, Progre... |
OMIM:245200 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Seizure, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:620010 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Distal se... |
OMIM:616287 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,... |
ORPHA:98756 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce... |
OMIM:213200 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Babinski sign, Impaired distal vibration sensation, Hand tremor, Distal ... |
OMIM:618279 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... |
ORPHA:276152 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Atax... |
ORPHA:453533 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619386 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Gener... |
ORPHA:289504 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysmetria,... |
OMIM:617916 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce... |
ORPHA:33445 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, Dysphagia, Loss of ambulation, CNS dem... |
OMIM:249900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am... |
ORPHA:2394 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Dystonia, Hypoglycemia, At... |
OMIM:246900 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... |
ORPHA:314802 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Abnormal intestine morphology, Vomiting, Failure to thrive |
OMIM:606528 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... |
ORPHA:206594 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Ataxia, Optic atrophy, Impa... |
OMIM:609033 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity |
OMIM:617892 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... |
OMIM:180800 |
Null Syndrome |
|
Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Pr... |
ORPHA:280234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Hypoglycemia, Rigidity, Inability to walk, Delayed myelination, Optic atrophy... |
OMIM:618241 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Gait disturbance, Impaired distal ta... |
OMIM:618400 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S... |
OMIM:145900 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:617872 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creati... |
OMIM:208920 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Impaired oropharynge... |
ORPHA:98916 |
Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Death in infancy, Spa... |
OMIM:616299 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Zollinger-Ellison syndrome, Increased glucagon level... |
ORPHA:438274 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... |
OMIM:277900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,... |
OMIM:614831 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, High, narrow palate, Knee flexion contracture... |
ORPHA:79322 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Hypoargininemia, Abnormal circulating glycine concentration, Abnormal circulating t... |
ORPHA:79096 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig... |
ORPHA:98759 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Seizure, Abno... |
OMIM:614739 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Very long chain fatty acid accumulation, Hoffmann sign, Dys... |
ORPHA:139396 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai... |
OMIM:601098 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Cog8-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Atrophy/Degeneration aff... |
ORPHA:95428 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Short stature, Tremor, Oromotor apraxia, CNS hypomy... |
ORPHA:300536 |
Pyruvate Carboxylase Deficiency |
|
Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Vomiting, Hyperglycemia, Hypoglutaminemia, H... |
ORPHA:3008 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor... |
ORPHA:206448 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive |
OMIM:610090 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Tremor, Flexion contracture, Optic atroph... |
OMIM:609260 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized... |
OMIM:614487 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Short stature |
ORPHA:366 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Incoor... |
ORPHA:79239 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating creatine kinase concentration, Clonus, Gastrointestinal dysmotility, Hypogly... |
ORPHA:480864 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Increased C... |
ORPHA:276575 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath... |
OMIM:205400 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... |
ORPHA:79263 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... |
OMIM:612319 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... |
OMIM:615157 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Seizure, Leukodystrophy,... |
OMIM:266150 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... |
OMIM:615035 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Severe demyelination of the white matter, Hyperhomocystinemia, Ataxia, Seizure... |
ORPHA:79282 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Hypoglycemia, Camptodactyly of finger, Hypogonadotropic hypogonadism, Ataxia, Abno... |
ORPHA:48431 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Diffuse hepatic steatosis, Very long chain fatty aci... |
OMIM:264470 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Impaired vibratory sensation, Clonus, Hiatus hernia, Babinski sign, Impaired proprioception, Seiz... |
ORPHA:101009 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Increased C-peptide level, Hypogl... |
ORPHA:276556 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased cerebral lipofuscin, Hyperprolinemia, Cerebral atrophy, Seizure, Neonatal death, Hypera... |
OMIM:615918 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Seizure, Pancreatic islet... |
ORPHA:276608 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Postnatal growth retardation, Ankle clonus, Chronic constipation, Seizure,... |
OMIM:301094 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogona... |
ORPHA:79237 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Hypoglycemia, Ataxia, Mult... |
OMIM:617710 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... |
OMIM:606483 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Delayed myelination, Unsteady gait, Gait ataxia, Seizure, Recurrent hypoglycemia, Gastroesophagea... |
OMIM:618158 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Cerebellar vermis hypoplasia, Generalized-onset seizure, Tremor, Flexion contrac... |
OMIM:212065 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Atrophy/Dege... |
OMIM:617862 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Babinski sign, Dysmetria, Limb... |
ORPHA:284324 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen... |
ORPHA:2932 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... |
OMIM:615185 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin... |
OMIM:616733 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... |
ORPHA:314632 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Miscarriage, Insulin resistance, Insulin-resist... |
OMIM:613877 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Diabetes mellitus, Short stature, Atrophy of the spinal cord, Atrophy/Degener... |
ORPHA:445062 |
D-Glyceric Aciduria |
|
Delayed CNS myelination, Hypoglycemia, Optic nerve hypoplasia, Bilateral tonic-clonic seizure, Pa... |
OMIM:220120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Increased connective tissue, Impaired pain sensation, Flexion contracture, Impaired... |
OMIM:607684 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... |
ORPHA:330050 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ... |
OMIM:607706 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Generalized myoclonic seizure, Facial palsy, Elevated circulating crea... |
OMIM:159950 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Seizure, Decreased liver function, Dysgenesis of the cerebellar vermis, Spasticity,... |
ORPHA:67048 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreo... |
OMIM:231670 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,... |
OMIM:601596 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Seizure, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesis, Babinski sign, ... |
ORPHA:171629 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... |
ORPHA:14 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Cerebral dysmyelination, Portal hypertension, Cryptorchidism, Hepatosplenomegaly, Seizure... |
OMIM:609136 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Hypermethioninemia, Dystonia |
OMIM:250850 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Delayed CNS myelination, Epileptic spasm, Hypoglycemia, Focal-onset... |
ORPHA:3006 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Spastic tetraplegi... |
OMIM:300438 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Hypoglycem... |
ORPHA:391408 |
Cach Syndrome |
|
Flexion contracture, Dysmetria, Vomiting, Nonketotic hyperglycinemia, Hepatosplenomegaly, Seizure... |
ORPHA:135 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Cerebral atrophy, Seizure, High palate... |
OMIM:269920 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia |
OMIM:300857 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... |
OMIM:118200 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Dystonia, Hypoglycemia, Spastic tetraparesis, Gastrointestinal dysmotil... |
ORPHA:391428 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Ataxia, ... |
OMIM:616263 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Diarrhea, Increased muscle glycogen cont... |
OMIM:261750 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee flexion ... |
OMIM:608836 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... |
OMIM:604360 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso... |
ORPHA:99953 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go... |
ORPHA:436182 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi... |
OMIM:601847 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:171863 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Optic atrophy, Hyperammonemia, Seizure, Status epileptic... |
OMIM:618253 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Abnorma... |
ORPHA:565624 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Brad... |
OMIM:300423 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... |
OMIM:608709 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation, Seizure, Hi... |
ORPHA:231140 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal sensory impairment, Steppage gait, Dysphagia, Peripheral demyelination, Axonal degeneratio... |
OMIM:607736 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... |
OMIM:611890 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Death in early adulthood, Dystonia, Short stature, Hypogonadotropic hypogonad... |
OMIM:607694 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Short stature, Absent pubertal growth spurt, Delayed periph... |
ORPHA:464282 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Seizure, Hypoglycemia |
ORPHA:35701 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr... |
ORPHA:412066 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Spinocerebellar Ataxia 29 |
|
Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadoch... |
OMIM:117360 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy... |
ORPHA:255182 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastrointestinal dysmotility, Gastroesophageal reflux, Macrovesicular hepatic steatosis, Vomiting... |
ORPHA:298 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Tremor, Chorea, Achalasia, Hepatic steatosis,... |
OMIM:615356 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... |
OMIM:616437 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Mild postnatal growth reta... |
ORPHA:456312 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Cerebral atrophy, Hyperammonemia, Seizure, Vomiting, H... |
OMIM:606054 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase... |
ORPHA:52430 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati... |
ORPHA:95716 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Short stature, Decreased response to growth hormone stimulation tes... |
ORPHA:289494 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Generalized-onset seizure, Tremor, Microvesicular hepatic steatosis... |
OMIM:220111 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... |
ORPHA:528 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:245400 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Abnormality of th... |
ORPHA:95715 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Spa... |
ORPHA:329284 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia, Spasticity |
OMIM:617810 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Premature thelarche, Oral-pharyngeal dysphagi... |
OMIM:616878 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Ankle clo... |
OMIM:617435 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Broad-based gait, Failure to thrive in infancy, Elevated c... |
OMIM:618805 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Fructose And Galactose Intolerance |
|
Seizure, Hypoglycemia |
OMIM:229500 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Bilateral cryp... |
OMIM:619685 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Dec... |
ORPHA:247585 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Leigh Syndrome |
|
Multiple joint contractures, Gastrointestinal dysmotility, Chorea, Choreoathetosis, Leukodystroph... |
ORPHA:506 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Cog7-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Eleva... |
ORPHA:79333 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Bilateral ton... |
OMIM:201475 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:100989 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Gastroesophageal reflu... |
OMIM:619971 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... |
OMIM:613986 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai... |
OMIM:609311 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Infantile spasms, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Seizure, ... |
ORPHA:263410 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Optic at... |
OMIM:261680 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Kinetic tremor, Cryptorchidism, Delayed myelination, Tr... |
OMIM:616817 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Elevated circulating long... |
OMIM:614886 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... |
OMIM:311070 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Abnormal... |
OMIM:169500 |
Bachmann-Bupp Syndrome |
|
Lower limb spasticity, Hypoglycemia, Large for gestational age, Cryptorchidism, High palate, Hype... |
OMIM:619075 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Seizure, Hypoglycemia |
OMIM:614741 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Optic atrophy, Hyperammonemia, Seizure, Dystonia, Hypera... |
OMIM:614702 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... |
OMIM:270550 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Short stature, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage... |
OMIM:608340 |
Myopathy With Extrapyramidal Signs |
|
Elevated circulating creatine kinase concentration, Clonus, Tremor, Chorea, Choreoathetosis, Cere... |
OMIM:615673 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Flexion contracture, Babinski sign, Spastic tetraplegia, Dysmetria,... |
OMIM:618404 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... |
OMIM:609270 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stature, Postnatal gr... |
OMIM:616113 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Delayed ... |
OMIM:214150 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Ataxia, Seizure, Hype... |
OMIM:248600 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... |
OMIM:183090 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Optic atrophy, Myoclonic seizure... |
OMIM:618329 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelin... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Distal... |
OMIM:615376 |
Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:619055 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... |
ORPHA:890 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Short stature, Ketotic ... |
ORPHA:2089 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... |
OMIM:182815 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Inability to... |
ORPHA:199343 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Hepatomegaly, Death in infancy, Hypoglycemia, Elevated circulating aspartate ... |
OMIM:608779 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Delayed CNS myelination, Dystonia, Bilateral tonic-clonic seizure, Involuntar... |
OMIM:617493 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Neonatal hyperbilirubinemia, R... |
ORPHA:90674 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R... |
OMIM:613280 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Short stature, Impaired pain sensation, Abnormal cerebellum... |
ORPHA:1532 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:171612 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration,... |
OMIM:616479 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Intrauterin... |
OMIM:618958 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Inability to walk, Chorea, Seizure, Gastroesophageal reflux, Decrea... |
ORPHA:70472 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Ataxia, Splenome... |
OMIM:603553 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Gallbladder dysfu... |
OMIM:250100 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil... |
OMIM:211600 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Death in infancy, Microvesicu... |
OMIM:613070 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Claw hand deformity, Paralysis, Decreased number of large peripheral myelinated nerve fibers, Dis... |
OMIM:605285 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... |
OMIM:616230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Ataxia, Splenomegaly, Hyperprolinemia, Status epilept... |
OMIM:619046 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Reactive hypoglycemia, Fasting hyperinsulinemia, Generalized non-motor... |
ORPHA:35878 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... |
OMIM:610600 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental perip... |
ORPHA:255210 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Cimdag Syndrome |
|
Hepatomegaly, Death in early adulthood, Cerebellar vermis hypoplasia, Lipodystrophy, Ataxia, Micr... |
OMIM:619273 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, High, narrow palate, Clonic seizure, Hypertonia, High palate, Vomiting, Leukodystrophy, H... |
OMIM:619475 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Seizure, Hepatic steatosis |
ORPHA:79087 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly... |
ORPHA:79240 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Death in infancy, Hypoglycemia, Conjugated hyper... |
OMIM:617156 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:617049 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Dystonia, Cerebral cortical hemia... |
ORPHA:306669 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Diarrhea, Seizure, Vomiting, Hyperuric... |
ORPHA:348 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Dystonia, Ataxia, Action tremor, Bilateral ... |
ORPHA:66634 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Tr... |
OMIM:210000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion co... |
OMIM:618120 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Focal-onset seizure, Elevated circulating phytani... |
OMIM:614307 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Cerebral dys... |
ORPHA:101070 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Ataxia, Splenomegaly, Cerebral atrophy, CNS demy... |
OMIM:272200 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Dysphagia, Abn... |
ORPHA:247604 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hemiplegia/hemiparesis, Seizure, Trans... |
ORPHA:156 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Seizure, Hypoglycemia |
ORPHA:2022 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Short stature, Hyperlipidemia, Seizure, Hyperuricemia |
ORPHA:364 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gest... |
OMIM:557000 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... |
ORPHA:572798 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Seizure, Vomiting, Hyperuricemia, Myoclonus, Death in... |
OMIM:246450 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain... |
OMIM:608703 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Failure to thrive, Agenesis of cerebellar ... |
OMIM:609069 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Ankle flexion contracture, Distal sensory impairment, Axonal loss, Distal arthrogryposis, Periphe... |
OMIM:611228 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Hypouricemia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cere... |
OMIM:252160 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, C... |
OMIM:616672 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Truncal ataxia |
ORPHA:98764 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Conjugated h... |
OMIM:613404 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthoton... |
OMIM:616271 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevate... |
OMIM:614298 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Elevated hepatic transaminase, Limb joint contracture, Failure to thrive in i... |
ORPHA:356961 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Hypothyroidism, Hepatomegaly, Seizure, Acholic stools, Decreased l... |
ORPHA:30391 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Falls, Myoclo... |
ORPHA:2382 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Seizure, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:370022 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis |
OMIM:620137 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... |
DECIPHER:29 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Gastrointestinal dysmotility, Rigidity, Optic atrop... |
ORPHA:391417 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Gastroesophageal reflux, Hypocalcemia, Hypoalbuminemia, Vomiting, Hepatic steatosis,... |
OMIM:613658 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnorm... |
ORPHA:3032 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Opisthotonus, Acute hepatic steatosis, Seizure, Vomiting, Fai... |
OMIM:210200 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r... |
OMIM:607791 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... |
ORPHA:228360 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia, Cerebral cortical atrophy |
OMIM:300983 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal... |
OMIM:610100 |
Tenorio Syndrome |
|
Hypoinsulinemia, Cerebral palsy, Hypoglycemia, Clumsiness, Macroglossia, Seizure, Gastroesophagea... |
OMIM:616260 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Clonus, Abnormal spinal cord morphology, Babinski sign, Spastic paraplegia, Spasticity, Progressi... |
ORPHA:139578 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypothyroidism, Abnormal pyramidal sign, Cereb... |
ORPHA:445038 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Seizure, Atrop... |
OMIM:617954 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Multiple Endocrine Neoplasia, Type I |
|
Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Prolactinoma, Carcinoid tumor, Incr... |
OMIM:131100 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic disc pallor, Generalized-onset seizure, Short stature, Facial palsy, Clonus, ... |
OMIM:259720 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... |
OMIM:619279 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Hypoplasia of the pons, High, narrow palate... |
OMIM:608027 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creati... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creati... |
OMIM:618839 |
Propionic Acidemia |
|
Hepatomegaly, Constipation, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Generalized-onset seizure, Conjugated hyperbilirubinemia, High palate, Intrahepatic biliary dysge... |
OMIM:614866 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Diarrhe... |
ORPHA:39812 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Tremo... |
OMIM:614018 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Segmental peripheral demyelination/remyelination, Impaired distal propriocep... |
OMIM:601455 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... |
ORPHA:329249 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial... |
OMIM:618184 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Peripheral demyelination, Distal sensory impairment |
ORPHA:99944 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai... |
OMIM:600882 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Ataxi... |
ORPHA:2609 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidism, Hyponatremia, He... |
ORPHA:199299 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Impaired proprioception, Steatorrh... |
ORPHA:71 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology, Growth delay, Seizure, Hypertonia, Spasticity |
ORPHA:411493 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Intestinal perforation, Hematemesis, Abnormal conus... |
ORPHA:464321 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Tremor, Hypoplasia of the brainstem, Myoclonus, Death in childhood, Failure to thrive |
OMIM:619651 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Clonic seizure, Foc... |
OMIM:620275 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Elevated circulating creatine kinase concentration, Distal sensory impairmen... |
OMIM:614455 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Death in childhood, Chor... |
OMIM:619422 |
Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Impaired distal proprioception, Decreased number of large peripheral myelinated n... |
ORPHA:99948 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased fecal hardero... |
OMIM:618892 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Clonus, Hiatus hernia, Spastic paraplegia, B... |
OMIM:609727 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Delayed CNS myelination, Hypoglycemia, Hyperammonemia, Vomi... |
OMIM:251000 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ataxia, Steppage gait,... |
ORPHA:101085 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Seizure, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Vomiting, Eleva... |
OMIM:619991 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... |
ORPHA:69665 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic failure, Diarrhea, Death in childhood, Hepatic fibrosis, P... |
OMIM:602579 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bil... |
OMIM:612736 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Abnormal brainstem ... |
ORPHA:79279 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Ataxia, CNS demyelination, Fat malabsorption, Peripheral demyelination |
OMIM:200100 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... |
OMIM:606353 |
Ravine Syndrome |
|
Decreased body weight, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the ... |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Spasticity, Dense calcificat... |
ORPHA:542310 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Small for gestational age, Cleft palate, Hypoglycemia |
ORPHA:231147 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... |
ORPHA:2088 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Decre... |
ORPHA:79319 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:100999 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Short stature, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cr... |
OMIM:617053 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Donohue Syndrome |
|
Postnatal growth retardation, Adipose tissue loss, Precocious puberty, Hyperinsulinemia, Cholesta... |
OMIM:246200 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, Nausea, He... |
ORPHA:53035 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Seizure, Thyroid carcinoma,... |
ORPHA:210548 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Hypertyrosinemia, Hyp... |
OMIM:124000 |
Malonyl-Coa Decarboxylase Deficiency |
|
Delayed CNS myelination, Hypoglycemia, Short stature, Diarrhea, Chronic constipation, Seizure, Vo... |
OMIM:248360 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Delayed CNS myelination, Multifocal seizures, Bilateral tonic-clonic seizure,... |
OMIM:619606 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,... |
OMIM:605588 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... |
ORPHA:320355 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Hype... |
OMIM:607080 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Axonal loss, Hypotriglyceridemia, Hepatomegaly, Microno... |
ORPHA:404454 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Elevated ... |
ORPHA:370959 |
Houge-Janssens Syndrome 1 |
|
Multifocal seizures, Hypoglycemia, Pyloric stenosis, Chronic diarrhea, Gait ataxia, Seizure, Intr... |
OMIM:616355 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoa... |
OMIM:618877 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, High, narrow palate, Abnormal panc... |
ORPHA:2849 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Dystonia, Hypoglycemia, Pate... |
ORPHA:17 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Small for gestational age,... |
OMIM:208085 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hypoalbuminemia, Hypothyroidism, Hepatic steatosis, Hepatomegaly, D... |
OMIM:619487 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Seizure, Hypoalbuminemia, Adrenal ins... |
OMIM:617575 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hepatomegaly, Optic disc pallor, Death in infancy, Hypoglycemia, Ataxia, Opti... |
OMIM:252010 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Glycosuria, Neonatal death, Elevated circulating ... |
OMIM:231680 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Hypogonadotropic hypogonadism, Ataxia, Tremor, Optic... |
OMIM:614381 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Vomiting, Ketotic hypoglycemia, Decreased circu... |
ORPHA:79159 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Intrahepatic cholestasis, Optic a... |
OMIM:606812 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Reduced radioactive iodin... |
ORPHA:90673 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, ... |
ORPHA:541423 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Decreased circulating T4 concentration, Cryptorchidism, Diarrhea,... |
OMIM:608104 |
Lissencephaly Due To Lis1 Mutation |
|
Cerebellar vermis hypoplasia, Infantile spasms, Focal motor seizure, Tetraplegia, Opisthotonus, P... |
ORPHA:95232 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Sei... |
OMIM:616483 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... |
OMIM:619355 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, CNS h... |
OMIM:610532 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Diarrhea, Hyperammonemia, Weight loss, Spasticity, Seizure, V... |
ORPHA:134 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... |
OMIM:616505 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Bowel incontinence, Truncal titubation, Abnormal spinal cord morphology, Axonal degenerat... |
ORPHA:88628 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Tremor, Fascicula... |
ORPHA:99965 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... |
OMIM:615643 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Inability to walk, Flexio... |
OMIM:218000 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulati... |
OMIM:620300 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... |
OMIM:256850 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Delayed CNS myelination, Short stature, Ataxia, Conjugated hyperbilirubinemia, Sple... |
OMIM:608885 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Hepatic failure |
ORPHA:664 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Diabetes mellitus, Short stature, Ataxia, Tremor, Polycystic ovari... |
ORPHA:100 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardati... |
OMIM:610198 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures, Vomiting, Leyd... |
ORPHA:361 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hypothyroidism, Hepatosplenom... |
OMIM:619013 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Elevated circulating acylcar... |
OMIM:615838 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dy... |
ORPHA:254881 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Laron Syndrome |
|
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... |
ORPHA:633 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Delayed myelination, CNS hypomyelination, Seizure, Stillbirth, De... |
OMIM:614922 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... |
ORPHA:36387 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinem... |
ORPHA:3085 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Photosensitive myoclonic sei... |
ORPHA:1192 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Short stature, Ataxia, Hypomagnesemia, Seizure, Hypokalemia, Hyperaldosteroni... |
OMIM:612780 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Delayed CNS myelination, Short stature, Postnatal growth retardation, Splenomegaly,... |
OMIM:620210 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Short stature, Generalized non-motor (absence) seizure,... |
OMIM:616033 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Sp... |
ORPHA:529665 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Tremor, Dysmetria, Dec... |
ORPHA:845 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Saccharopinuria |
|
Short stature, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Distal sen... |
ORPHA:3124 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem M... |
ORPHA:83597 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Nonketotic hype... |
ORPHA:401866 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Dilated... |
ORPHA:276244 |
Bangstad Syndrome |
|
Short stature, Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries... |
ORPHA:1227 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Hiatus hernia... |
OMIM:601162 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Short stature, Involuntary movements, Bilateral tonic-clonic seizur... |
OMIM:618325 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Septo-optic dysplasia, Hypoglycemia, Short stature... |
ORPHA:95496 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... |
ORPHA:94086 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Elevated circulating creatine kinase concentration, I... |
OMIM:613155 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired propr... |
OMIM:606002 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoath... |
OMIM:261640 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, E... |
ORPHA:157 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar... |
ORPHA:234 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Hyperlipidemia, Delayed... |
OMIM:232200 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Dysmetria... |
ORPHA:502423 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Seizure, Vomiting, Adrenal insuffic... |
OMIM:240200 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Seizure, Hypogonadism, Myoclonus, Dysp... |
ORPHA:97229 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... |
OMIM:616586 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor... |
OMIM:128100 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Diffuse cerebral atrophy, Elevated circulating creatine kinase concentration, Tongue fasciculatio... |
OMIM:617193 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypouricemia, Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth d... |
OMIM:252150 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Seizure, Vomiting, Hepatic steatosis |
OMIM:201450 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Bilateral tonic-clonic seizure, Chore... |
ORPHA:369840 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno... |
ORPHA:98907 |
19P13.12 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Precocious puberty, Cryptorchidism, Hyperlipidemia, ... |
ORPHA:254346 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... |
OMIM:619484 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circulating cortisol level, ... |
OMIM:620305 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Hepatic steatosis, Hypothyroidism, He... |
ORPHA:79259 |
Superficial Siderosis |
|
Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Vomi... |
ORPHA:247245 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Death in infancy, Dystonia, Tremor, Inability to walk, Optic atrophy, Spastic... |
OMIM:617664 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding... |
OMIM:615284 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Intest... |
ORPHA:79324 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Seizure, Gastroes... |
OMIM:613477 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Abnormality of the spleen, Chorea, Panhypopituitarism, Gastroeso... |
ORPHA:2162 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Demyelinating sensory neuropathy, Impaired distal proprioception, Demyelin... |
ORPHA:320365 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Elevated circulating alpha-fe... |
OMIM:616267 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... |
ORPHA:79095 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal circulating reni... |
OMIM:202200 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hypothyroidism, Hepatic steatosis, Hepatomegaly,... |
OMIM:615846 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Abnormal brain... |
ORPHA:300573 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... |
ORPHA:95699 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Elevated circulatin... |
OMIM:607426 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Small for gestational age, Short stature, Hypoglycemia |
ORPHA:231137 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Writer's cramp, Involuntary movements, C... |
ORPHA:157846 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Peripheral dysm... |
ORPHA:101082 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Tremor, Loss of facial adipose tissue, Hepatomegaly, Short statu... |
OMIM:216400 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Death in infancy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting th... |
OMIM:614946 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr... |
ORPHA:96180 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Short stature, Sp... |
OMIM:232220 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Diabetes mellitus, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Optic... |
ORPHA:98673 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ataxia,... |
ORPHA:20 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Peripheral dysmyelination, Neuronal loss i... |
OMIM:260565 |
Atypical Rett Syndrome |
|
Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s... |
ORPHA:3095 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Seizure, Cholestatic liver disease, Failure to thrive, Hypoketotic hy... |
ORPHA:5 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... |
OMIM:610217 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment |
OMIM:601382 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Generalized-onset seizure, Hypergonadotropic hyp... |
OMIM:619737 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Conjugated hyperbilirubinemia, Hepatic fibros... |
OMIM:619534 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Celiac disease, Conjugated hyperbi... |
ORPHA:186 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Tremor, Death in childhood, Loss of facial adipose tissue, Hepat... |
OMIM:133540 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Hypothyroidism, Enlarged ovaries, Sh... |
ORPHA:769 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Intestinal perforation, Peritonitis, Ab... |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, CNS hypomy... |
OMIM:616239 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Abnormal pyramidal sign, Cerebral atrop... |
OMIM:256600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hepatic steatosis, Bloody diarrhea |
OMIM:615119 |
Japanese Encephalitis |
|
Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Vomiting, Respiratory paralysis, Hyponatremia,... |
ORPHA:79139 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi... |
OMIM:300055 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... |
ORPHA:98908 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss... |
ORPHA:1332 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Glycogen Storage Disease Ixd |
|
Increased muscle glycogen content, Hypoglycemia, Elevated circulating creatine kinase concentrati... |
OMIM:300559 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Adrenoleukodystrophy |
|
Incoordination, Bowel incontinence, Paraparesis, Spastic paraplegia, Primary adrenal insufficienc... |
OMIM:300100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay,... |
OMIM:615453 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Seizure, Abnormal intestine morphology, Failure to ... |
ORPHA:977 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, High palate... |
OMIM:619004 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... |
OMIM:617106 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated... |
OMIM:617253 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Papilledema, Intestinal pseudo-obstruction, Short stature, Severe ... |
OMIM:309900 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Seizure, Tip-toe ga... |
ORPHA:746 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Cerebral palsy, Hypoglycemia, Hyperammonemia, Opisthotonus, Seizure, Vomiti... |
OMIM:210210 |
Ogden Syndrome |
|
Generalized-onset seizure, Maternal diabetes, Microvesicular hepatic steatosis, Hypertonia, High ... |
OMIM:300855 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Seizu... |
ORPHA:163961 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Dystonia, Microvesicular hepatic steatosis, Diarrhea, Tetraplegia, Hepatosplenomega... |
OMIM:618278 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
OMIM:248370 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Hypoplasia of th... |
ORPHA:467166 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Delayed CNS myelination, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:614924 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Seizure, Vomi... |
ORPHA:436271 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Jaundice, Hyperlip... |
ORPHA:444490 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Bilateral tonic-clonic seiz... |
ORPHA:457240 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Ataxia, Tremo... |
OMIM:617675 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy,... |
OMIM:617248 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Impaired pain sensation |
ORPHA:99014 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Hypoplasia of the pons, Tremor, Clonic sei... |
OMIM:615574 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
ORPHA:766 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Increased circulating free fatty acid level, Diarrhea, Tetraplegia, Seizure, Vo... |
OMIM:610768 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Short stature, Elevated hemoglobin A1c, Babinski sign, Cerebral atrophy, Gait... |
OMIM:616192 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja... |
OMIM:611881 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short stature, Ataxia, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, Del... |
ORPHA:168577 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Pain insensitivity, Hypoglycemia, Bilateral tonic-clonic seizure, Infantile spasms, ... |
OMIM:620224 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anteriorly placed anus,... |
ORPHA:280195 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Tongue atrophy, Frequ... |
ORPHA:99949 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Short stature, Intestinal malrotation, Tremor, Abnormality of the spleen, Chia... |
ORPHA:94063 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypop... |
OMIM:619556 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms... |
ORPHA:25 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Chronic constipation, Seizure, Gastroesophageal reflux, Progressive spasticit... |
OMIM:301032 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Jaundice, Increased muscle glycogen content, ... |
OMIM:232800 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Very long chain fatty acid accumulation, Cerebral dysmyelination,... |
ORPHA:139399 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Postnatal growth retardation, Cryptorch... |
ORPHA:397590 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation... |
ORPHA:508 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Elevated ci... |
ORPHA:90038 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:608594 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Generalized-onset seizure, Large for gestational age, Cryptorchidism, Focal-... |
ORPHA:457485 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Short... |
OMIM:616026 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Patent ductus arteriosus, Tip-toe gait, High palate, Hypothyroidism, Neonatal hype... |
ORPHA:293939 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:615960 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Hypothyroidism, Weight loss, Hepatosplenomegaly, Hyper... |
OMIM:613673 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dys... |
ORPHA:2388 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa... |
ORPHA:168563 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Spastic paraplegia, Babinski sign, Seizure, Abnormal CNS myelination, D... |
ORPHA:477673 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Delayed CNS myelination, Elevated hemoglobin A1c, Malabsorption, Tremor, Babinski sign, Glucose i... |
OMIM:616539 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, D... |
ORPHA:91547 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Sp... |
ORPHA:363722 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Short stature, Intestinal malrotation, Supernumerary nipple, Delayed peri... |
OMIM:605039 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Bowel incontinence, Degeneration of the lateral corticospinal trac... |
ORPHA:100993 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Patent ductus arteriosus, Hepatic steatosis, Obesity |
OMIM:615996 |
Immunodeficiency, Common Variable, 10 |
|
Frequent Giardia lamblia infestation, Hypoglycemia, Decreased response to growth hormone stimulat... |
OMIM:615577 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cerebellar vermis hypoplasia, Ata... |
OMIM:216360 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:269700 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... |
OMIM:300957 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... |
OMIM:620327 |
Tick-Borne Encephalitis |
|
Generalized-onset seizure, Elevated circulating C-reactive protein concentration, Tremor, Vomitin... |
ORPHA:297 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Growth delay, Hepatic steatos... |
OMIM:231530 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Ataxia, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chroni... |
ORPHA:457279 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Gracile Syndrome |
|
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Cirrhosis, E... |
ORPHA:53693 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Dysphagia, Failure to thrive, Limb ... |
OMIM:617162 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Retinitis Pigmentosa |
|
Optic atrophy, Obesity, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabet... |
ORPHA:791 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Elevated circulating creatinine concentration, Vomiting,... |
ORPHA:542323 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Hyperhomocystinemia, Seizure, High palate, Hypermethioninemia, Failure to thrive... |
OMIM:236200 |
Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestas... |
OMIM:207800 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum... |
OMIM:261515 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... |
ORPHA:159 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Cerebral atrophy, ... |
OMIM:607330 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Postnatal... |
OMIM:619489 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age, Cryptorchidism, Seizure, Umbilical hernia |
OMIM:616638 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Spasticity, Gait ataxia, Dysdiadoc... |
ORPHA:247234 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... |
ORPHA:447788 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based... |
OMIM:615490 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Short stature, Stomatitis, Ataxia, Celiac disease, Postnatal growt... |
OMIM:212750 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased HDL choleste... |
ORPHA:412 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Bowel incontinence, Rigidity, Dysesthesia, Abnormal brainstem morphology, D... |
ORPHA:93256 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglyc... |
ORPHA:436174 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
Acute Bilirubin Encephalopathy |
|
Cerebral palsy, Seizure, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Seizure, Hypertonia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia,... |
ORPHA:529808 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... |
ORPHA:309854 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, ... |
ORPHA:521219 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Melena, Increased serum iron, Increased total iron ... |
ORPHA:98870 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Seizure, Failure to thrive, H... |
OMIM:615438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concent... |
OMIM:613153 |
Sotos Syndrome |
|
Cryptorchidism, High, narrow palate, Poor coordination, Patent ductus arteriosus, Increased body ... |
OMIM:117550 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Gastroesophageal reflux, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, Nocturnal ... |
OMIM:619229 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia... |
OMIM:266200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Hypoglycemia, Microvesicular hepatic steatosis, ... |
OMIM:611126 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Multiple lipomas, Choreoat... |
ORPHA:765 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Diffuse cerebral atrophy, Short ... |
ORPHA:263487 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Mild postnatal growth retardation, Splenomegaly, Hyperbi... |
OMIM:224120 |
Timothy Syndrome |
|
Hypoglycemia, Patent ductus arteriosus, Seizure, Hypocalcemia, Hypothyroidism |
OMIM:601005 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Short stature, Female hypogonadism, Elevated circulating alpha-fetoprotein con... |
OMIM:208900 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Chiari type I malforma... |
OMIM:618476 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Nausea, Reactive hypoglycemia, Jaundice, Diarrhea, Hypermagnesemia, Growth delay, S... |
ORPHA:469 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Seizure, Hypoglycemia |
OMIM:610006 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Gastr... |
ORPHA:478029 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Optic atrophy, Truncal ataxia, Death in childhood, Seizure, High palate, De... |
OMIM:220110 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Dystonia, Infantile spasms, Diarrhea, Chorea, Spastic tetraplegia, ... |
OMIM:618321 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Hypothyroidism, Optic atrophy, Cerebral at... |
OMIM:222300 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Gastrointestinal dysmotility, Chiari type I malformation, Hypertonia, G... |
OMIM:270400 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida... |
ORPHA:447753 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Short stature, Patent ductus arteriosus, Seizure, High palate, Intrauterine growth ... |
OMIM:618005 |
Cholera |
|
Hyponatremia, Hypoglycemia, Achlorhydria, Miscarriage, Diarrhea, Abnormal blood ion concentration... |
ORPHA:173 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion co... |
OMIM:300868 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... |
OMIM:146500 |
20Q11.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Myoclonic seizure, Cervical ... |
OMIM:617186 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetrapares... |
ORPHA:268940 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Diffuse cerebral atrophy, Malformation of the hepatic ductal plate... |
ORPHA:84081 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Angelman Syndrome |
|
Tremor, Gastroesophageal reflux, Vomiting, Ataxia, Cerebral dysmyelination, Obesity, Seizure, Con... |
ORPHA:72 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Cranial nerve compression, Babinski sign, V... |
ORPHA:268882 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Patent ductus arteriosus, Seizure, Intrauterine growth retardation, Febrile seizure... |
OMIM:617190 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:52368 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Death in infancy, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, S... |
OMIM:210710 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Hypoglycemia, Short stature, Cachexia, Abno... |
ORPHA:109 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Pro... |
ORPHA:646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607831 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... |
OMIM:612164 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Malabsorption, Chronic diarrhea, High palate, Recurren... |
OMIM:233600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Inguinal hernia, Small for gestational age, Gastroparesis, Ataxia, Tremor, Crypt... |
OMIM:614052 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, H... |
ORPHA:90062 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cerebellar vermis hypoplasia, Ataxi... |
ORPHA:1454 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Hepatomegaly, Papilledema, Ab... |
ORPHA:3385 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, En... |
ORPHA:90796 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hypoglycemia, Malabsorption, Chorea, Atypical scarr... |
ORPHA:565 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration,... |
OMIM:615181 |
Gm1 Gangliosidosis |
|
Tremor, Gastroesophageal reflux, Ganglioside accumulation, Decerebrate rigidity, Short stature, A... |
ORPHA:354 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular... |
OMIM:313200 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Dandy-Walker malformation, Broad-based gait, Bilateral tonic-clonic seiz... |
OMIM:617988 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Seizure, Optic atrophy, Hypoglycemia |
OMIM:608688 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... |
ORPHA:221091 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Degcags Syndrome |
|
Hepatomegaly, Small for gestational age, Jejunal atresia, Hiatus hernia, Protruding tongue, Crypt... |
OMIM:619488 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:289548 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflam... |
OMIM:232240 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Delayed CNS myelination, Splenomegaly, Patent ductus arteriosus, Flexion contractur... |
OMIM:617303 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han... |
OMIM:162400 |
Yellow Fever |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
ORPHA:99829 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Vomiting, Hyponatremia... |
ORPHA:275761 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... |
ORPHA:314404 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circu... |
ORPHA:95613 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... |
OMIM:168600 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Vomi... |
ORPHA:168558 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypoglycemia, Rhizomelia, Cryptorchidism, Patent ductus arteriosus, Hy... |
OMIM:607143 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... |
ORPHA:96182 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Growth delay, Hepatic steatosis |
ORPHA:96168 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Hypoglycemia, Decreased response to growth hormone stimulation test, Short st... |
OMIM:616007 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Calcinosis, Splenomegal... |
OMIM:613471 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Small for gestational age, Ankle flexion contra... |
ORPHA:464311 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Optic atrophy, Cleft palate, Polycystic ovaries, Seizure, Vomiting, H... |
ORPHA:137675 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Spinal cord compre... |
ORPHA:231222 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Diarrhea, Decreased serum zinc, Hypogo... |
OMIM:201100 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature |
ORPHA:369873 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Chiari type I malformation, Hypert... |
ORPHA:3455 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Death in c... |
OMIM:243800 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Multifocal seizures, Hypoglycemia, Precocious puberty, Obesity, Cleft palate, Hepat... |
OMIM:301066 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Short stature, Cholangitis, Rhizome... |
OMIM:613610 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Foot joint contracture, Scarr... |
ORPHA:90321 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu... |
OMIM:619573 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Cerebe... |
ORPHA:163979 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal brainstem MRI signal intensity, Diarrhea, Abnormal pyramidal sign, Seizure, Abno... |
ORPHA:51188 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Hepatoblastoma, Hypothyroidism, Hepat... |
ORPHA:116 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts,... |
OMIM:208500 |
Rh Deficiency Syndrome |
|
Miscarriage, Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Intrauterine growth retardation, R... |
ORPHA:71275 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
OMIM:615919 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Diarrhea, Elevated circulating creatinine concentration, Hyperi... |
ORPHA:230 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
47,Xyy Syndrome |
|
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Abnormal brainstem morp... |
ORPHA:8 |
Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Simple febrile sei... |
ORPHA:2203 |
Oculodentodigital Dysplasia |
|
Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morphology, Ataxia, Optic atrophy, ... |
ORPHA:2710 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Precocious puberty, Seizure, Myoclonus, Episod... |
ORPHA:1934 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia, Cerebral cortical atrophy |
ORPHA:2158 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Apl... |
ORPHA:93111 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Vomiting, Premature adrenarche, Hyponatremia, Short stature... |
ORPHA:90794 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Abnormal brains... |
ORPHA:370997 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Flexion contrac... |
OMIM:619321 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... |
ORPHA:477817 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Hypoglycemia, Elevated ... |
ORPHA:99826 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia,... |
OMIM:213300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Increased connective tissue, Abnormal brainstem MRI signal intensity, Protruding to... |
ORPHA:258 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Flexion contracture, Dysmetria, Gastro... |
ORPHA:98889 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Portal vein thrombosis, Splenomegaly, Increased circulating ferritin... |
ORPHA:3202 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic... |
ORPHA:525731 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:220386 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbra... |
ORPHA:68 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Cleft palate |
ORPHA:494 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short statu... |
OMIM:300998 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Seizure, Hypoglycemia |
OMIM:229700 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Te... |
OMIM:263570 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia, Limb... |
OMIM:105210 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Ataxia, Pa... |
ORPHA:167 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Short stature, Abnormal circulating l... |
ORPHA:79474 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Optic disc colobo... |
OMIM:608091 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Seizure, High palate,... |
OMIM:223360 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, CNS hypomyelination, Macroglossia, Seizure, High palate,... |
OMIM:614501 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Delayed CNS myelination, Epileptic spasm, Cerebral atrophy, Seizure, High palate, Cerebellar hypo... |
OMIM:300896 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Infantile spa... |
OMIM:618733 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Bowel incontinence, Abnormal stomach morphology, Tremor, Abnorm... |
ORPHA:512 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Bowel incontinence, Clonus, Aqueductal stenosis, Precoci... |
ORPHA:58 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Infantile spasms, Tremor, Cryptorchidism, Jaundice, Flexion contra... |
OMIM:608093 |
Apparent Mineralocorticoid Excess |
|
Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard... |
ORPHA:320 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Death in infancy, Dystonia, Ataxia, Elevated circulating creatine kin... |
OMIM:610505 |
Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia, Dystonia, Neuronal loss in central nervous system,... |
ORPHA:683 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Cleft pa... |
ORPHA:220497 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Hypothyroidism, Hep... |
ORPHA:1606 |
Perlman Syndrome |
|
Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, C... |
OMIM:267000 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... |
ORPHA:300385 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Death in childhood, Hepat... |
OMIM:609313 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, Abnormal brainstem morphology, Seizure, Hypertonia, High palate, Aplasia/H... |
ORPHA:2720 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Pmm2-Cdg |
|
Cerebellar vermis hypoplasia, Multiple joint contractures, Elevated circulating thyroid-stimulati... |
ORPHA:79318 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of... |
OMIM:610688 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... |
OMIM:618500 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Intestinal malrotation, Asplenia, Cryptorchidism, Patent d... |
ORPHA:99776 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystrophy, Hypothy... |
ORPHA:51 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,... |
OMIM:210900 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Ce... |
OMIM:615530 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypoplasia of the pons, Cryptorchidism, Patent ductus arteriosus, Seizure, Chronic constipation, ... |
ORPHA:163956 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Hypothyroidism, Optic disc col... |
OMIM:620186 |
Dpagt1-Cdg |
|
Tremor, Flexion contracture, Hypertonia, Diffuse optic disc pallor, Hepatomegaly, Ataxia, Focal m... |
ORPHA:86309 |
Alkuraya-Kucinskas Syndrome |
|
Seizure, Hypoplasia of the brainstem, High palate, Cerebellar hypoplasia, Kinked brainstem, Campt... |
OMIM:617822 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Cleft palate, Seizure, High palate, Decreased body w... |
OMIM:300867 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... |
ORPHA:240094 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Death in infancy, Hypoglycemia, Camptodactyly of fing... |
ORPHA:373 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... |
OMIM:234200 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Cleft pa... |
ORPHA:220493 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Anal stenosis, Congenital diaphragmatic hernia, Large for gestational age, Tr... |
OMIM:614080 |
Alternating Hemiplegia Of Childhood |
|
Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyramidal sign,... |
ORPHA:2131 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Anteriorly placed anus, Decreased circulating renin level, ... |
OMIM:201750 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Decreased number of large peripheral myelinated nerve fibers, Diarrhea, Elevated ... |
OMIM:223900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99226 |
Turner Syndrome |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:881 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... |
ORPHA:320375 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cryptor... |
OMIM:236670 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Hemiparesis, Seizure |
OMIM:617542 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Scarring alopecia of scalp, Flexion contracture, Severe postnatal growth retardati... |
ORPHA:35173 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g... |
OMIM:300908 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Abnormal cerebellum m... |
ORPHA:637 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Death in infancy, Elevated circulating creatine kinase concentration, Parti... |
OMIM:613150 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contracture, Hepatosplenomega... |
OMIM:607014 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory im... |
ORPHA:99956 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... |
OMIM:611560 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:90695 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Tremor, Optic atrophy, Abnormal pyramidal si... |
OMIM:612199 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Hamartoma of tongue, Bilateral cryptorchidis... |
ORPHA:2754 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Tremor, Hyperammonemia, Seizure, Vomiting, Hyperglycinemia,... |
OMIM:251100 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Tremor, Babinski sign, Spastic paraplegia, Cerebral atro... |
ORPHA:83629 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Short statur... |
OMIM:176270 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... |
ORPHA:79244 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Moderate postnatal growth retardation, Abnormal circ... |
ORPHA:69076 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar... |
OMIM:601104 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Jaundice, Seizure, Neurodegeneration, Gait disturbance |
OMIM:214500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Tremor, Cranial ner... |
ORPHA:276621 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Congenital Erythropoietic Porphyria |
|
Scarring, Increased stool urobilinogen concentration, Increased connective tissue, Splenomegaly, ... |
ORPHA:79277 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, High palate, Cerebellar h... |
ORPHA:457359 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Tr... |
ORPHA:478 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Jaundice, Insulin-dependent but ketosis-res... |
ORPHA:103918 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Clonus, Facial palsy, Elevated circulating creatine kinase concen... |
OMIM:619424 |
Costello Syndrome |
|
Hypoglycemia, Short stature, Pyloric stenosis, Achilles tendon contracture, Cerebral atrophy, Chi... |
OMIM:218040 |
Mucopolysaccharidosis, Type Vii |
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Hepatomegaly, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, Fl... |
OMIM:253220 |
Hereditary Pheochromocytoma-Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Tremor, Cranial ner... |
ORPHA:29072 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased number of peripheral myelinated nerve fibers, Gastroesophageal reflux, Painless fractur... |
OMIM:201300 |
Triosephosphate Isomerase Deficiency |
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Optic disc pallor, Death in infancy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cer... |
OMIM:615512 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Elevated cir... |
ORPHA:466677 |
Diaphanospondylodysostosis |
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Inguinal hernia, Disproportionate short-trunk short stature, Cleft palate, Abnormal liver lobulat... |
OMIM:608022 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... |
OMIM:619503 |
Rh-Null, Regulator Type |
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Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadi... |
ORPHA:91347 |
Acute Intermittent Porphyria |
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Hyponatremia, Somatic sensory dysfunction, Tremor, Diarrhea, Ileus, Seizure, Pseudobulbar paralys... |
ORPHA:79276 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Listeriosis |
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Somatic sensory dysfunction, Liver abscess, Miscarriage, Ataxia, Abnormal brainstem MRI signal in... |
ORPHA:533 |
Atelis Syndrome 2 |
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Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Lethal Congenital Contracture Syndrome 1 |
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Neonatal death, Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons |
OMIM:253310 |
Paroxysmal Nocturnal Hemoglobinuria |
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Esophageal spasms, Decreased serum iron, Jaundice, Odynophagia, Increased blood urea nitrogen, Gl... |
ORPHA:447 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Severe short stature, Foot joint contracture, Abnormal midbrain morphology, Infa... |
ORPHA:444072 |
Sotos Syndrome |
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Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Gastroesophageal reflux, Hypothyroidis... |
ORPHA:821 |
Gaucher Disease |
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Hepatomegaly, Death in infancy, Short stature, Ataxia, Elevated circulating C-reactive protein co... |
ORPHA:355 |
Duplication Of The Pituitary Gland |
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Lower limb spasticity, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morp... |
ORPHA:314621 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia |
OMIM:301083 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Splenomegaly, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Familial Cerebral Saccular Aneurysm |
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Hemiparesis, Seizure, Abnormal brainstem morphology |
ORPHA:231160 |
Monocarboxylate Transporter 1 Deficiency |
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Ketotic hypoglycemia |
OMIM:616095 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Patent ductus arteriosus, High palate, Joint contracture of the 5th finger, Gastroesophageal refl... |
OMIM:619934 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet... |
ORPHA:1578 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cryptorchidism, Panc... |
OMIM:130650 |
Primary Fanconi Renotubular Syndrome |
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Hypoglycemia, Hypouricemia, Bicarbonaturia, Weight loss, Hypophosphatemia, Decreased circulating ... |
ORPHA:3337 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal brainstem MRI signal intensity, Seizure, Failure to thrive, Leukodystrophy |
ORPHA:444013 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas... |
ORPHA:96253 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Involuntary m... |
ORPHA:90068 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology |
ORPHA:83468 |
Williams Syndrome |
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Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse, Dysmetria, Gastroeso... |
ORPHA:904 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
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Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Sarcoidosis |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Sca... |
ORPHA:797 |
Oculopharyngodistal Myopathy 1 |
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Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Tremor, Weight loss, Hi... |
OMIM:164310 |
Primary Sjögren Syndrome |
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Somatic sensory dysfunction, Chronic active hepatitis, Abnormal cerebellum morphology, Abnormal s... |
ORPHA:289390 |
Friedreich Ataxia 2 |
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Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul... |
OMIM:601992 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:1848 |
Primrose Syndrome |
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Hip contracture, Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Elevated circu... |
OMIM:259050 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia |
OMIM:130600 |
Osteogenesis Imperfecta |
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Flexion contracture, Brain stem compression, Loss of ambulation, Short stature, Abnormal dental e... |
ORPHA:666 |
Holoprosencephaly 1 |
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Hypoglycemia, Short stature, Adrenal hypoplasia, Seizure, Cerebellar hypoplasia, Diabetes insipid... |
OMIM:236100 |
Nijmegen Breakage Syndrome |
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Anal stenosis, Short stature, Diarrhea, Cleft palate, Neurodegeneration, Intrauterine growth reta... |
OMIM:251260 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Delayed peripheral myelination, Cleft palate, Intrauterine growth retardation, Microglossia, Fail... |
ORPHA:364577 |
Paget Disease Of Bone 2, Early-Onset |
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Brain stem compression, Paraparesis, Hypercalcemia, Tetraparesis |
OMIM:602080 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
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Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Corneal scarring |
OMIM:256800 |
Limb Body Wall Complex |
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Ventral hernia, Spina bifida, Congenital diaphragmatic hernia, Abnormal spinal cord morphology, C... |
ORPHA:2369 |
Tetrasomy 9P |
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Absent gallbladder, Median cleft lip and palate, Abnormal dental enamel morphology, Cryptorchidis... |
ORPHA:3310 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Macroglossia, Seizure, Neonatal hypoglycemia |
OMIM:261740 |
Mosaic Trisomy 20 |
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Cryptorchidism, Abnormal spinal cord morphology, Cleft palate, Chronic constipation, Intrauterine... |
ORPHA:1724 |
Achondroplasia |
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Brain stem compression, Neonatal short-limb short stature, Rhizomelia, Death in infancy |
OMIM:100800 |
Homozygous Familial Hypercholesterolemia |
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Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ... |
ORPHA:391665 |