Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity |
OMIM:608236 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:608323 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity |
OMIM:620111 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased distal ... |
OMIM:601098 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Decreased nerve conduction velocity, Motor conduction block, Abnormal nerve conduction velocity |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign |
OMIM:162500 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology |
OMIM:605253 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... |
ORPHA:206594 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures |
ORPHA:36913 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity |
OMIM:615376 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Abnormal peripheral action p... |
ORPHA:457205 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity |
OMIM:608895 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity |
OMIM:613287 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity |
ORPHA:99944 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials |
OMIM:608673 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:118210 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity |
OMIM:618404 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity |
OMIM:606595 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
ORPHA:101081 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Optic atr... |
OMIM:609260 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Decreased nerve conduction velocity, Abnormal motor evoked potentials |
ORPHA:99939 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity |
OMIM:600361 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, Decreased amplit... |
ORPHA:90103 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618184 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity |
ORPHA:101082 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Decrea... |
ORPHA:48818 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity |
OMIM:609311 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Leuk... |
ORPHA:94093 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:600882 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity |
OMIM:614932 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity |
OMIM:605588 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity |
OMIM:605285 |
Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity |
OMIM:620068 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94089 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity |
OMIM:615284 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Motor conduction block |
ORPHA:99948 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:85446 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... |
OMIM:218000 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity |
OMIM:607734 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity |
OMIM:607831 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity |
ORPHA:101077 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity |
OMIM:618138 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Krabbe Disease |
|
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy |
OMIM:245200 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:603472 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity |
OMIM:180800 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... |
ORPHA:99953 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... |
OMIM:606070 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:99950 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity |
OMIM:613724 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Decreased nerve conduction velocity |
ORPHA:435387 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:79444 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:201300 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... |
ORPHA:247234 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:214400 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity |
ORPHA:3115 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dyst... |
ORPHA:79443 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Akinesia, Dystonia |
OMIM:300894 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia |
ORPHA:240071 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Abnormal motor nerve conduction velocity |
OMIM:614399 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity |
OMIM:607250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity |
ORPHA:319514 |
Perry Syndrome |
|
Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Degeneration of anterior horn cells |
OMIM:604320 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity |
OMIM:618356 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity |
OMIM:614436 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Decreased nerve conduction velocity |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:616688 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:612674 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity |
OMIM:118220 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia |
OMIM:606693 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity |
ORPHA:1933 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:162400 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:619026 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity |
OMIM:604563 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia |
ORPHA:93325 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:256600 |
Manganese Poisoning |
|
Akinesia, Postural tremor, Gait disturbance, Dystonia |
ORPHA:306682 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity |
OMIM:619851 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression |
OMIM:615368 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615419 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity |
OMIM:118200 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:145900 |
Sialidosis Type 1 |
|
Decreased nerve conduction velocity, EEG abnormality |
ORPHA:812 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... |
ORPHA:157215 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia |
OMIM:618249 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials |
ORPHA:98755 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Akinesia, Hypochromic microcytic anemia, Hyperalaninemia, Anemia |
OMIM:619147 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity |
OMIM:614895 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, EEG abnormality, Optic disc pallor, Hypsarrhythmia |
ORPHA:565624 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:98856 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Facial palsy |
OMIM:608804 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Facial diplegia |
ORPHA:329478 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia |
ORPHA:97349 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:616192 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity |
OMIM:603516 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:256840 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... |
OMIM:241530 |
Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia |
ORPHA:213 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased compound muscle ... |
OMIM:602433 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Optic atrophy, EEG with focal sharp waves, Facial diplegia, Decreased sen... |
OMIM:617302 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction |
ORPHA:48431 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity |
OMIM:615490 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:264700 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Decreased sensory ne... |
OMIM:164400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Decreased compound muscle action potential amplitude, Facial palsy |
OMIM:603511 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Optic atrophy,... |
ORPHA:1187 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity |
OMIM:302800 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atrophy |
ORPHA:206436 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy |
OMIM:601152 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
ORPHA:298 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity |
OMIM:604168 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia |
ORPHA:101085 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Optic atrophy |
OMIM:609033 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:250100 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618733 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Difficulty walking, Hypophosphatemia |
OMIM:277440 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity |
OMIM:616652 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618186 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity |
OMIM:610532 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Anemia |
OMIM:608013 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Poikilocytosis, Dystonia |
OMIM:618947 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Congenital Myopathy 12 |
|
Abnormal circulating creatine kinase concentration, Akinesia |
OMIM:612540 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309256 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:477817 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... |
OMIM:229300 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:610651 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypocalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:289157 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:270550 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309263 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy |
ORPHA:101076 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Tremor, Blepharospasm, Choreoathetosis, Gait disturbance, Dystonia |
OMIM:234200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... |
ORPHA:845 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy |
OMIM:615663 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude |
OMIM:618279 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Lymphop... |
OMIM:127550 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy |
OMIM:614863 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Hypomagnesemia, Hypophosph... |
ORPHA:699 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... |
ORPHA:456312 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy |
ORPHA:320375 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
OMIM:214500 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... |
ORPHA:35069 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterior horn motor neurons, ... |
ORPHA:79139 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity |
OMIM:261515 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:249 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity |
ORPHA:90658 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude |
OMIM:620080 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction |
ORPHA:168563 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity |
ORPHA:88628 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Optic atrophy |
ORPHA:95 |
Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:167 |
Wilson Disease |
|
Decreased nerve conduction velocity |
OMIM:277900 |
Cockayne Syndrome B |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:133540 |
Cockayne Syndrome A |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:216400 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia |
ORPHA:562 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Anemia |
ORPHA:86309 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity |
ORPHA:512 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials |
ORPHA:36386 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Cystinosis, Nephropathic |
|
Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne... |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi... |
ORPHA:534 |
Cockayne Syndrome |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, EEG abnormality, Abnormality of the auto... |
ORPHA:79138 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Mucopolysaccharidosis Type 2 |
|
Decreased nerve conduction velocity, Papilledema, Optic atrophy |
ORPHA:580 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93473 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Facial paralysis, Optic atrophy |
ORPHA:99949 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:90321 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity |
OMIM:606002 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity |
ORPHA:2912 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity |
OMIM:615273 |
African Trypanosomiasis |
|
Akinesia, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Gait disturbance, Difficulty... |
ORPHA:3385 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Decreased serum iron, Inability to walk, Dystonia... |
ORPHA:438213 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:285 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Abnormality of peripheral nerve conduction |
ORPHA:90324 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormality of the autonomic nervous system, Abnormality of peripheral nerve conduction, Orthosta... |
ORPHA:642 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction |
OMIM:601992 |
Choreoacanthocytosis |
|
Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials |
ORPHA:2388 |